RUSC1 (RUN and SH3 domain containing 1) - Rat Genome Database

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Gene: RUSC1 (RUN and SH3 domain containing 1) Homo sapiens
Analyze
Symbol: RUSC1
Name: RUN and SH3 domain containing 1
RGD ID: 1349680
HGNC Page HGNC:17153
Description: Predicted to enable actin binding activity. Involved in protein polyubiquitination. Located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AP-4 complex accessory subunit RUSC1; DKFZp761A1822; NESCA; new molecule containing SH3 at the carboxy-terminus; RUN and SH3 domain-containing protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381155,320,894 - 155,331,118 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1155,320,894 - 155,331,114 (+)EnsemblGRCh38hg38GRCh38
GRCh371155,290,685 - 155,300,909 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361153,557,264 - 153,567,533 (+)NCBINCBI36Build 36hg18NCBI36
Build 341152,107,440 - 152,113,976NCBI
Celera1128,363,782 - 128,374,051 (+)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1126,652,942 - 126,663,296 (+)NCBIHuRef
CHM1_11156,686,081 - 156,696,350 (+)NCBICHM1_1
T2T-CHM13v2.01154,459,434 - 154,469,658 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function
actin binding  (IEA,ISS)
protein binding  (IPI)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10760598   PMID:12477932   PMID:14702039   PMID:15024033   PMID:15146197   PMID:15489334   PMID:16303743   PMID:16344560   PMID:18029348   PMID:19365808   PMID:21516116   PMID:21832049  
PMID:21873635   PMID:22404429   PMID:22821014   PMID:25416956   PMID:26496610   PMID:28986522   PMID:30262884   PMID:30569097   PMID:31067453   PMID:31391242   PMID:31515488   PMID:32296183  
PMID:32814053   PMID:33961781   PMID:34048366   PMID:34369648   PMID:35559673  


Genomics

Comparative Map Data
RUSC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381155,320,894 - 155,331,118 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1155,320,894 - 155,331,114 (+)EnsemblGRCh38hg38GRCh38
GRCh371155,290,685 - 155,300,909 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361153,557,264 - 153,567,533 (+)NCBINCBI36Build 36hg18NCBI36
Build 341152,107,440 - 152,113,976NCBI
Celera1128,363,782 - 128,374,051 (+)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1126,652,942 - 126,663,296 (+)NCBIHuRef
CHM1_11156,686,081 - 156,696,350 (+)NCBICHM1_1
T2T-CHM13v2.01154,459,434 - 154,469,658 (+)NCBIT2T-CHM13v2.0
Rusc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39388,991,282 - 89,000,670 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl388,991,288 - 89,000,618 (-)EnsemblGRCm39 Ensembl
GRCm38389,083,975 - 89,093,363 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl389,083,981 - 89,093,311 (-)EnsemblGRCm38mm10GRCm38
MGSCv37388,887,899 - 88,897,285 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36389,169,908 - 89,179,217 (-)NCBIMGSCv36mm8
Celera389,122,668 - 89,132,054 (-)NCBICelera
Cytogenetic Map3F1NCBI
cM Map339.01NCBI
Rusc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82176,785,711 - 176,794,981 (-)NCBIGRCr8
mRatBN7.22174,487,921 - 174,497,266 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2174,486,665 - 174,507,776 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.02188,394,114 - 188,403,391 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02207,806,473 - 207,815,974 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42181,157,849 - 181,167,536 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2168,432,165 - 168,441,279 (-)NCBICelera
Cytogenetic Map2q34NCBI
Rusc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555451,765,800 - 1,773,889 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555451,765,364 - 1,773,889 (+)NCBIChiLan1.0ChiLan1.0
RUSC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2194,513,392 - 94,523,637 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1194,244,718 - 94,254,964 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01130,665,390 - 130,675,635 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11134,270,420 - 134,280,592 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1134,270,420 - 134,280,592 (+)Ensemblpanpan1.1panPan2
RUSC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1742,232,791 - 42,240,862 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl742,233,156 - 42,241,345 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha741,723,723 - 41,731,683 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0742,101,999 - 42,109,959 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl742,102,000 - 42,109,075 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1741,881,877 - 41,889,835 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0741,935,655 - 41,943,611 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0742,219,647 - 42,227,604 (-)NCBIUU_Cfam_GSD_1.0
Rusc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505825,778,226 - 25,787,715 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365804,808,546 - 4,818,221 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365804,808,620 - 4,818,097 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RUSC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl494,489,207 - 94,499,256 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1494,489,202 - 94,499,993 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24103,280,858 - 103,291,688 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RUSC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1208,504,123 - 8,514,113 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl208,503,727 - 8,513,519 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660387,841,479 - 7,851,435 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rusc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624885949,542 - 957,142 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RUSC1
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q22(chr1:155182457-155787428)x3 copy number gain See cases [RCV000051164] Chr1:155182457..155787428 [GRCh38]
Chr1:155154933..155757219 [GRCh37]
Chr1:153421557..154023843 [NCBI36]
Chr1:1q22
uncertain significance
NM_001039517.1(RUSC1-AS1):c.413T>A (p.Leu138Gln) single nucleotide variant Malignant melanoma [RCV000064193] Chr1:155321076 [GRCh38]
Chr1:155290867 [GRCh37]
Chr1:153557491 [NCBI36]
Chr1:1q22
not provided
GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3 copy number gain See cases [RCV000140157] Chr1:155006546..155464263 [GRCh38]
Chr1:154979022..155434054 [GRCh37]
Chr1:153245646..153700678 [NCBI36]
Chr1:1q21.3-22
uncertain significance
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 copy number gain See cases [RCV000139902] Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1
pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 copy number gain not provided [RCV000585385] Chr1:153751465..156660462 [GRCh37]
Chr1:1q21.3-23.1
likely pathogenic
NC_000001.11:g.(?_155324845)_(155482449_?)del deletion not provided [RCV000816637] Chr1:155324845..155482449 [GRCh38]
Chr1:155294636..155452240 [GRCh37]
Chr1:1q22
pathogenic
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1
likely pathogenic
GRCh37/hg19 1q22(chr1:155282294-155383478)x1 copy number loss See cases [RCV000446785] Chr1:155282294..155383478 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001105203.2(RUSC1):c.2264C>T (p.Pro755Leu) single nucleotide variant not specified [RCV004284173] Chr1:155326982 [GRCh38]
Chr1:155296773 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.1387C>G (p.Pro463Ala) single nucleotide variant not specified [RCV004286392] Chr1:155324874 [GRCh38]
Chr1:155294665 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.2705T>C (p.Leu902Pro) single nucleotide variant not specified [RCV004286678] Chr1:155330567 [GRCh38]
Chr1:155300358 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001105203.2(RUSC1):c.1516C>T (p.Arg506Trp) single nucleotide variant not specified [RCV004331064] Chr1:155325161 [GRCh38]
Chr1:155294952 [GRCh37]
Chr1:1q22
uncertain significance
NC_000001.11:g.(?_155282411)_(155323834_?)del deletion not provided [RCV000816636] Chr1:155282411..155323834 [GRCh38]
Chr1:155252202..155293625 [GRCh37]
Chr1:1q22
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NC_000001.10:g.(?_154141761)_(156851434_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV001990060] Chr1:154141761..156851434 [GRCh37]
Chr1:1q21.3-23.1
uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1
uncertain significance
NM_001105203.2(RUSC1):c.1489A>G (p.Lys497Glu) single nucleotide variant not specified [RCV004320052] Chr1:155325134 [GRCh38]
Chr1:155294925 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.340C>G (p.Pro114Ala) single nucleotide variant not specified [RCV004170107] Chr1:155322113 [GRCh38]
Chr1:155291904 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.2191G>A (p.Glu731Lys) single nucleotide variant not specified [RCV004131113] Chr1:155326909 [GRCh38]
Chr1:155296700 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.1384G>A (p.Val462Ile) single nucleotide variant not specified [RCV004238978] Chr1:155324871 [GRCh38]
Chr1:155294662 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.2038G>A (p.Ala680Thr) single nucleotide variant not specified [RCV004189337] Chr1:155326756 [GRCh38]
Chr1:155296547 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.1530G>C (p.Gln510His) single nucleotide variant not specified [RCV004108043] Chr1:155325175 [GRCh38]
Chr1:155294966 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.1390G>A (p.Gly464Arg) single nucleotide variant not specified [RCV004185220] Chr1:155324877 [GRCh38]
Chr1:155294668 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.2549G>A (p.Arg850Gln) single nucleotide variant not specified [RCV004179998] Chr1:155330411 [GRCh38]
Chr1:155300202 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.1674C>G (p.Ser558Arg) single nucleotide variant not specified [RCV004158468] Chr1:155325456 [GRCh38]
Chr1:155295247 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.1619C>T (p.Ala540Val) single nucleotide variant not specified [RCV004194667] Chr1:155325401 [GRCh38]
Chr1:155295192 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.1542G>T (p.Leu514Phe) single nucleotide variant not specified [RCV004096813] Chr1:155325324 [GRCh38]
Chr1:155295115 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.1753C>T (p.Arg585Cys) single nucleotide variant not specified [RCV004277531] Chr1:155325611 [GRCh38]
Chr1:155295402 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.2467C>T (p.Arg823Trp) single nucleotide variant not specified [RCV004269961] Chr1:155328202 [GRCh38]
Chr1:155297993 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1
pathogenic
NM_001105203.2(RUSC1):c.2438C>T (p.Pro813Leu) single nucleotide variant not specified [RCV004347133] Chr1:155328173 [GRCh38]
Chr1:155297964 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.2123G>T (p.Gly708Val) single nucleotide variant not specified [RCV004351105] Chr1:155326841 [GRCh38]
Chr1:155296632 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.1425T>G (p.Ser475Arg) single nucleotide variant not specified [RCV004337944] Chr1:155324912 [GRCh38]
Chr1:155294703 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.1956G>C (p.Gln652His) single nucleotide variant not specified [RCV004365355] Chr1:155326674 [GRCh38]
Chr1:155296465 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.213C>T (p.Cys71=) single nucleotide variant not provided [RCV003409096] Chr1:155321986 [GRCh38]
Chr1:155291777 [GRCh37]
Chr1:1q22
likely benign
NM_001105203.2(RUSC1):c.1086G>A (p.Ser362=) single nucleotide variant not provided [RCV003409097] Chr1:155322859 [GRCh38]
Chr1:155292650 [GRCh37]
Chr1:1q22
likely benign
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1 copy number loss not specified [RCV003986928] Chr1:154302443..156868186 [GRCh37]
Chr1:1q21.3-23.1
pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
NM_001105203.2(RUSC1):c.2548C>T (p.Arg850Trp) single nucleotide variant not specified [RCV004447065] Chr1:155330410 [GRCh38]
Chr1:155300201 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.2304G>C (p.Glu768Asp) single nucleotide variant not specified [RCV004447061] Chr1:155327022 [GRCh38]
Chr1:155296813 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.1497C>G (p.Ile499Met) single nucleotide variant not specified [RCV004447057] Chr1:155325142 [GRCh38]
Chr1:155294933 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.2468G>A (p.Arg823Gln) single nucleotide variant not specified [RCV004447063] Chr1:155328203 [GRCh38]
Chr1:155297994 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.2137G>C (p.Ala713Pro) single nucleotide variant not specified [RCV004447060] Chr1:155326855 [GRCh38]
Chr1:155296646 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.1756C>G (p.Leu586Val) single nucleotide variant not specified [RCV004447059] Chr1:155325614 [GRCh38]
Chr1:155295405 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.1388C>T (p.Pro463Leu) single nucleotide variant not specified [RCV004447056] Chr1:155324875 [GRCh38]
Chr1:155294666 [GRCh37]
Chr1:1q22
uncertain significance
NM_001105203.2(RUSC1):c.2482G>A (p.Glu828Lys) single nucleotide variant not specified [RCV004447064] Chr1:155328217 [GRCh38]
Chr1:155298008 [GRCh37]
Chr1:1q22
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4908
Count of miRNA genes:903
Interacting mature miRNAs:1067
Transcripts:ENST00000292254, ENST00000368347, ENST00000368349, ENST00000368352, ENST00000368354, ENST00000462780, ENST00000467820, ENST00000468764, ENST00000471876, ENST00000473331, ENST00000479924, ENST00000484664, ENST00000485924, ENST00000489860, ENST00000490373, ENST00000492536, ENST00000497930
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human

Markers in Region
RH91444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,300,740 - 155,300,869UniSTSGRCh37
Build 361153,567,364 - 153,567,493RGDNCBI36
Celera1128,373,882 - 128,374,011RGD
Cytogenetic Map1q21-q22UniSTS
HuRef1126,663,127 - 126,663,256UniSTS
GeneMap99-GB4 RH Map1557.59UniSTS
SHGC-2651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,290,283 - 155,290,453UniSTSGRCh37
Build 361153,556,907 - 153,557,077RGDNCBI36
Celera1128,363,425 - 128,363,595RGD
Cytogenetic Map1q21-q22UniSTS
Cytogenetic Map1q22UniSTS
HuRef1126,652,585 - 126,652,755UniSTS
RH68206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,290,292 - 155,290,447UniSTSGRCh37
Build 361153,556,916 - 153,557,071RGDNCBI36
Celera1128,363,434 - 128,363,589RGD
Cytogenetic Map1q21-q22UniSTS
Cytogenetic Map1q22UniSTS
HuRef1126,652,594 - 126,652,749UniSTS
RUSC1_9384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,300,227 - 155,301,049UniSTSGRCh37
Build 361153,566,851 - 153,567,673RGDNCBI36
Celera1128,373,369 - 128,374,191RGD
HuRef1126,662,614 - 126,663,436UniSTS
RH12028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,300,312 - 155,300,477UniSTSGRCh37
Build 361153,566,936 - 153,567,101RGDNCBI36
Celera1128,373,454 - 128,373,619RGD
Cytogenetic Map1q21-q22UniSTS
HuRef1126,662,699 - 126,662,864UniSTS
GeneMap99-GB4 RH Map1557.59UniSTS
NCBI RH Map11214.9UniSTS
SHGC-32326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,300,371 - 155,300,495UniSTSGRCh37
Build 361153,566,995 - 153,567,119RGDNCBI36
Celera1128,373,513 - 128,373,637RGD
Cytogenetic Map1q21-q22UniSTS
HuRef1126,662,758 - 126,662,882UniSTS
GeneMap99-GB4 RH Map1538.49UniSTS
Whitehead-RH Map1672.3UniSTS
NCBI RH Map11140.9UniSTS
D15S1171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,290,213 - 155,290,392UniSTSGRCh37
Build 361153,556,837 - 153,557,016RGDNCBI36
Celera1128,363,355 - 128,363,534RGD
Cytogenetic Map1q21-q22UniSTS
Cytogenetic Map1q22UniSTS
HuRef1126,652,515 - 126,652,694UniSTS
GeneMap99-G3 RH Map15958.0UniSTS
RH79692  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21-q22UniSTS
HuRef1126,663,027 - 126,663,275UniSTS
GeneMap99-GB4 RH Map1538.83UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2404 1832 1326 250 865 92 3562 1092 3149 313 1165 1584 171 1164 2020 3
Low 33 1157 400 373 1084 373 794 1102 582 106 290 26 4 1 40 768 2 1
Below cutoff 1 1 2 1 2 5 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001105203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001105204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001105205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007058572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB026894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ004124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX402179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN305634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA099897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA131200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA751328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000292254   ⟹   ENSP00000292254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,324,577 - 155,331,114 (+)Ensembl
Ensembl Acc Id: ENST00000368347   ⟹   ENSP00000357331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,323,937 - 155,331,114 (+)Ensembl
Ensembl Acc Id: ENST00000368349   ⟹   ENSP00000357333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,324,513 - 155,331,112 (+)Ensembl
Ensembl Acc Id: ENST00000368352   ⟹   ENSP00000357336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,320,894 - 155,331,114 (+)Ensembl
Ensembl Acc Id: ENST00000368354   ⟹   ENSP00000357338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,320,896 - 155,331,112 (+)Ensembl
Ensembl Acc Id: ENST00000462780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,324,441 - 155,330,729 (+)Ensembl
Ensembl Acc Id: ENST00000467820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,323,012 - 155,326,734 (+)Ensembl
Ensembl Acc Id: ENST00000468764   ⟹   ENSP00000482109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,324,527 - 155,326,730 (+)Ensembl
Ensembl Acc Id: ENST00000471876   ⟹   ENSP00000482409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,324,539 - 155,331,114 (+)Ensembl
Ensembl Acc Id: ENST00000473331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,325,243 - 155,326,884 (+)Ensembl
Ensembl Acc Id: ENST00000479924   ⟹   ENSP00000480831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,324,523 - 155,328,275 (+)Ensembl
Ensembl Acc Id: ENST00000485924   ⟹   ENSP00000481669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,325,567 - 155,327,132 (+)Ensembl
Ensembl Acc Id: ENST00000489860   ⟹   ENSP00000479495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,324,278 - 155,326,922 (+)Ensembl
Ensembl Acc Id: ENST00000490373   ⟹   ENSP00000484026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,324,522 - 155,330,730 (+)Ensembl
Ensembl Acc Id: ENST00000492536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,324,519 - 155,326,815 (+)Ensembl
Ensembl Acc Id: ENST00000497930   ⟹   ENSP00000479858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,320,894 - 155,331,114 (+)Ensembl
Ensembl Acc Id: ENST00000696599   ⟹   ENSP00000512744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,320,894 - 155,331,114 (+)Ensembl
RefSeq Acc Id: NM_001105203   ⟹   NP_001098673
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,320,894 - 155,331,114 (+)NCBI
GRCh371155,290,640 - 155,300,909 (+)RGD
Build 361153,557,264 - 153,567,533 (+)NCBI Archive
Celera1128,363,782 - 128,374,051 (+)RGD
HuRef1126,652,942 - 126,663,296 (+)ENTREZGENE
CHM1_11156,686,081 - 156,696,350 (+)NCBI
T2T-CHM13v2.01154,459,434 - 154,469,654 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001105204   ⟹   NP_001098674
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,320,894 - 155,331,114 (+)NCBI
GRCh371155,290,640 - 155,300,909 (+)RGD
Build 361153,557,264 - 153,567,533 (+)NCBI Archive
Celera1128,363,782 - 128,374,051 (+)RGD
HuRef1126,652,942 - 126,663,296 (+)ENTREZGENE
CHM1_11156,686,081 - 156,696,350 (+)NCBI
T2T-CHM13v2.01154,459,434 - 154,469,654 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001105205   ⟹   NP_001098675
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,323,937 - 155,331,118 (+)NCBI
GRCh371155,290,640 - 155,300,909 (+)RGD
Build 361153,560,352 - 153,567,533 (+)NCBI Archive
Celera1128,363,782 - 128,374,051 (+)RGD
HuRef1126,652,942 - 126,663,296 (+)ENTREZGENE
CHM1_11156,689,169 - 156,696,350 (+)NCBI
T2T-CHM13v2.01154,462,477 - 154,469,658 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278227   ⟹   NP_001265156
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,323,937 - 155,331,118 (+)NCBI
GRCh371155,290,640 - 155,300,909 (+)NCBI
HuRef1126,652,942 - 126,663,296 (+)NCBI
CHM1_11156,689,169 - 156,696,350 (+)NCBI
T2T-CHM13v2.01154,462,477 - 154,469,658 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278228   ⟹   NP_001265157
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,323,937 - 155,331,118 (+)NCBI
GRCh371155,290,640 - 155,300,909 (+)NCBI
HuRef1126,652,942 - 126,663,296 (+)NCBI
CHM1_11156,689,169 - 156,696,350 (+)NCBI
T2T-CHM13v2.01154,462,477 - 154,469,658 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278229   ⟹   NP_001265158
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,323,937 - 155,331,118 (+)NCBI
GRCh371155,290,640 - 155,300,909 (+)NCBI
HuRef1126,652,942 - 126,663,296 (+)NCBI
CHM1_11156,689,169 - 156,696,350 (+)NCBI
T2T-CHM13v2.01154,462,477 - 154,469,658 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278230   ⟹   NP_001265159
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,324,507 - 155,331,114 (+)NCBI
GRCh371155,290,640 - 155,300,909 (+)NCBI
HuRef1126,652,942 - 126,663,296 (+)NCBI
CHM1_11156,689,627 - 156,696,350 (+)NCBI
T2T-CHM13v2.01154,463,047 - 154,469,654 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014328   ⟹   NP_055143
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,323,937 - 155,331,118 (+)NCBI
GRCh371155,290,640 - 155,300,909 (+)RGD
Build 361153,560,842 - 153,567,533 (+)NCBI Archive
Celera1128,363,782 - 128,374,051 (+)RGD
HuRef1126,652,942 - 126,663,296 (+)ENTREZGENE
CHM1_11156,689,169 - 156,696,350 (+)NCBI
T2T-CHM13v2.01154,462,477 - 154,469,658 (+)NCBI
Sequence:
RefSeq Acc Id: NR_103478
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,324,507 - 155,331,114 (+)NCBI
GRCh371155,290,640 - 155,300,909 (+)NCBI
HuRef1126,652,942 - 126,663,296 (+)NCBI
CHM1_11156,689,627 - 156,696,350 (+)NCBI
T2T-CHM13v2.01154,463,047 - 154,469,654 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006711254   ⟹   XP_006711317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,320,894 - 155,331,118 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006711256   ⟹   XP_006711319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,320,894 - 155,331,118 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006711257   ⟹   XP_006711320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,323,711 - 155,331,118 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000891   ⟹   XP_016856380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,321,591 - 155,331,118 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416644   ⟹   XP_047272600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,320,894 - 155,331,118 (+)NCBI
RefSeq Acc Id: XM_047416653   ⟹   XP_047272609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,323,937 - 155,331,118 (+)NCBI
RefSeq Acc Id: XM_054335726   ⟹   XP_054191701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01154,459,434 - 154,469,658 (+)NCBI
RefSeq Acc Id: XM_054335727   ⟹   XP_054191702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01154,459,434 - 154,469,658 (+)NCBI
RefSeq Acc Id: XM_054335728   ⟹   XP_054191703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01154,462,251 - 154,469,658 (+)NCBI
RefSeq Acc Id: XM_054335729   ⟹   XP_054191704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01154,462,477 - 154,469,658 (+)NCBI
RefSeq Acc Id: XR_007058572
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,320,894 - 155,325,349 (+)NCBI
RefSeq Acc Id: XR_008485982
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01154,459,434 - 154,463,889 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001098673 (Get FASTA)   NCBI Sequence Viewer  
  NP_001098674 (Get FASTA)   NCBI Sequence Viewer  
  NP_001098675 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265156 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265157 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265158 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265159 (Get FASTA)   NCBI Sequence Viewer  
  NP_055143 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711317 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711319 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711320 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856380 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272600 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272609 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191701 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191702 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191703 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191704 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH01045 (Get FASTA)   NCBI Sequence Viewer  
  AAH04293 (Get FASTA)   NCBI Sequence Viewer  
  AAH52277 (Get FASTA)   NCBI Sequence Viewer  
  BAA77507 (Get FASTA)   NCBI Sequence Viewer  
  BAG37144 (Get FASTA)   NCBI Sequence Viewer  
  BAG52045 (Get FASTA)   NCBI Sequence Viewer  
  BAG54191 (Get FASTA)   NCBI Sequence Viewer  
  BAG60880 (Get FASTA)   NCBI Sequence Viewer  
  CAB45702 (Get FASTA)   NCBI Sequence Viewer  
  CAE45718 (Get FASTA)   NCBI Sequence Viewer  
  CAF86864 (Get FASTA)   NCBI Sequence Viewer  
  CAH18462 (Get FASTA)   NCBI Sequence Viewer  
  EAW53069 (Get FASTA)   NCBI Sequence Viewer  
  EAW53070 (Get FASTA)   NCBI Sequence Viewer  
  EAW53071 (Get FASTA)   NCBI Sequence Viewer  
  EAW53072 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000292254
  ENSP00000292254.4
  ENSP00000357331
  ENSP00000357331.4
  ENSP00000357333
  ENSP00000357333.4
  ENSP00000357336
  ENSP00000357336.5
  ENSP00000357338
  ENSP00000357338.3
  ENSP00000479495.1
  ENSP00000479858.2
  ENSP00000480831
  ENSP00000480831.1
  ENSP00000481669.1
  ENSP00000482109.1
  ENSP00000482409.1
  ENSP00000484026.1
  ENSP00000512744
  ENSP00000512744.1
GenBank Protein Q9BVN2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001098673   ⟸   NM_001105203
- Peptide Label: isoform a
- UniProtKB: Q9UPY4 (UniProtKB/Swiss-Prot),   Q5T9V2 (UniProtKB/Swiss-Prot),   Q5T9V1 (UniProtKB/Swiss-Prot),   Q5T9V0 (UniProtKB/Swiss-Prot),   Q5T9U9 (UniProtKB/Swiss-Prot),   B3KWM9 (UniProtKB/Swiss-Prot),   Q9Y4T5 (UniProtKB/Swiss-Prot),   Q9BVN2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001098674   ⟸   NM_001105204
- Peptide Label: isoform b
- UniProtKB: Q9BVN2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001098675   ⟸   NM_001105205
- Peptide Label: isoform c
- UniProtKB: Q9BVN2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_055143   ⟸   NM_014328
- Peptide Label: isoform d
- UniProtKB: Q9BVN2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265157   ⟸   NM_001278228
- Peptide Label: isoform f
- UniProtKB: Q9BVN2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265158   ⟸   NM_001278229
- Peptide Label: isoform g
- UniProtKB: A0A087WX95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265156   ⟸   NM_001278227
- Peptide Label: isoform e
- UniProtKB: B4DQB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265159   ⟸   NM_001278230
- Peptide Label: isoform d
- UniProtKB: Q9BVN2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006711317   ⟸   XM_006711254
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3SIT1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711319   ⟸   XM_006711256
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006711320   ⟸   XM_006711257
- Peptide Label: isoform X4
- UniProtKB: Q9BVN2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856380   ⟸   XM_017000891
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3SIT1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000292254   ⟸   ENST00000292254
Ensembl Acc Id: ENSP00000480831   ⟸   ENST00000479924
Ensembl Acc Id: ENSP00000484026   ⟸   ENST00000490373
Ensembl Acc Id: ENSP00000482109   ⟸   ENST00000468764
Ensembl Acc Id: ENSP00000479858   ⟸   ENST00000497930
Ensembl Acc Id: ENSP00000482409   ⟸   ENST00000471876
Ensembl Acc Id: ENSP00000481669   ⟸   ENST00000485924
Ensembl Acc Id: ENSP00000357336   ⟸   ENST00000368352
Ensembl Acc Id: ENSP00000357338   ⟸   ENST00000368354
Ensembl Acc Id: ENSP00000357331   ⟸   ENST00000368347
Ensembl Acc Id: ENSP00000357333   ⟸   ENST00000368349
Ensembl Acc Id: ENSP00000479495   ⟸   ENST00000489860
Ensembl Acc Id: ENSP00000512744   ⟸   ENST00000696599
RefSeq Acc Id: XP_047272600   ⟸   XM_047416644
- Peptide Label: isoform X3
- UniProtKB: Q9UPY4 (UniProtKB/Swiss-Prot),   Q9BVN2 (UniProtKB/Swiss-Prot),   Q5T9V2 (UniProtKB/Swiss-Prot),   Q5T9V1 (UniProtKB/Swiss-Prot),   Q5T9V0 (UniProtKB/Swiss-Prot),   Q5T9U9 (UniProtKB/Swiss-Prot),   B3KWM9 (UniProtKB/Swiss-Prot),   Q9Y4T5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047272609   ⟸   XM_047416653
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054191701   ⟸   XM_054335726
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3SIT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191702   ⟸   XM_054335727
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054191703   ⟸   XM_054335728
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054191704   ⟸   XM_054335729
- Peptide Label: isoform X5
Protein Domains
RUN   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BVN2-F1-model_v2 AlphaFold Q9BVN2 1-902 view protein structure

Promoters
RGD ID:6786759
Promoter ID:HG_KWN:5393
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001105203,   NM_001105204
Position:
Human AssemblyChrPosition (strand)Source
Build 361153,556,646 - 153,557,482 (+)MPROMDB
RGD ID:6786172
Promoter ID:HG_KWN:5394
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000292253,   NM_001105205,   NM_014328,   OTTHUMT00000039073,   OTTHUMT00000039388,   OTTHUMT00000039391,   OTTHUMT00000039392,   OTTHUMT00000039393,   OTTHUMT00000039394,   OTTHUMT00000039395,   OTTHUMT00000039396,   OTTHUMT00000039397,   OTTHUMT00000039398,   OTTHUMT00000039399,   UC001FKN.2,   UC001FKO.2,   UC001FKQ.2,   UC001FKR.2,   UC001FKS.2,   UC009WQN.1,   UC009WQO.1,   UC009WQP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361153,557,996 - 153,562,557 (+)MPROMDB
RGD ID:6857486
Promoter ID:EPDNEW_H1907
Type:initiation region
Name:RUSC1_2
Description:RUN and SH3 domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1908  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,323,925 - 155,323,985EPDNEW
RGD ID:6857574
Promoter ID:EPDNEW_H1908
Type:initiation region
Name:RUSC1_1
Description:RUN and SH3 domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1907  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,324,507 - 155,324,567EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17153 AgrOrtholog
COSMIC RUSC1 COSMIC
Ensembl Genes ENSG00000160753 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000292254 ENTREZGENE
  ENST00000292254.8 UniProtKB/Swiss-Prot
  ENST00000368347 ENTREZGENE
  ENST00000368347.8 UniProtKB/Swiss-Prot
  ENST00000368349 ENTREZGENE
  ENST00000368349.8 UniProtKB/Swiss-Prot
  ENST00000368352 ENTREZGENE
  ENST00000368352.10 UniProtKB/Swiss-Prot
  ENST00000368354 ENTREZGENE
  ENST00000368354.7 UniProtKB/Swiss-Prot
  ENST00000468764.5 UniProtKB/TrEMBL
  ENST00000471876 ENTREZGENE
  ENST00000471876.5 UniProtKB/TrEMBL
  ENST00000479924 ENTREZGENE
  ENST00000479924.5 UniProtKB/TrEMBL
  ENST00000485924.2 UniProtKB/TrEMBL
  ENST00000489860.5 UniProtKB/TrEMBL
  ENST00000490373.5 UniProtKB/TrEMBL
  ENST00000497930.6 UniProtKB/TrEMBL
  ENST00000696599 ENTREZGENE
  ENST00000696599.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.900 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160753 GTEx
HGNC ID HGNC:17153 ENTREZGENE
Human Proteome Map RUSC1 Human Proteome Map
InterPro Run_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Run_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RUN_RUSC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RUSC1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23623 UniProtKB/Swiss-Prot
NCBI Gene 23623 ENTREZGENE
OMIM 617318 OMIM
PANTHER RUN AND SH3 DOMAIN CONTAINING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RUN AND SH3 DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RUN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134947113 PharmGKB
PRINTS SH3DOMAIN UniProtKB/TrEMBL
PROSITE RUN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RUN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF140741 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WVK5_HUMAN UniProtKB/TrEMBL
  A0A087WW20_HUMAN UniProtKB/TrEMBL
  A0A087WX95 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WYB2_HUMAN UniProtKB/TrEMBL
  A0A087WYU8_HUMAN UniProtKB/TrEMBL
  A0A087WZ68_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIT1 ENTREZGENE, UniProtKB/TrEMBL
  B3KWM9 ENTREZGENE
  B4DQB8 ENTREZGENE, UniProtKB/TrEMBL
  Q5T9U9 ENTREZGENE
  Q5T9V0 ENTREZGENE
  Q5T9V1 ENTREZGENE
  Q5T9V2 ENTREZGENE
  Q68CX2_HUMAN UniProtKB/TrEMBL
  Q9BVN2 ENTREZGENE
  Q9UPY4 ENTREZGENE
  Q9Y4T5 ENTREZGENE
  RUSC1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KWM9 UniProtKB/Swiss-Prot
  Q5T9U9 UniProtKB/Swiss-Prot
  Q5T9V0 UniProtKB/Swiss-Prot
  Q5T9V1 UniProtKB/Swiss-Prot
  Q5T9V2 UniProtKB/Swiss-Prot
  Q9UPY4 UniProtKB/Swiss-Prot
  Q9Y4T5 UniProtKB/Swiss-Prot