SNRNP40 (small nuclear ribonucleoprotein U5 subunit 40) - Rat Genome Database

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Gene: SNRNP40 (small nuclear ribonucleoprotein U5 subunit 40) Homo sapiens
Analyze
Symbol: SNRNP40
Name: small nuclear ribonucleoprotein U5 subunit 40
RGD ID: 1606327
HGNC Page HGNC:30857
Description: Enables RNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Located in cytosol and nuclear speck. Part of U2-type catalytic step 2 spliceosome and U4/U6 x U5 tri-snRNP complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 38 kDa-splicing factor; 40K; FLJ41108; HPRP8BP; MGC1910; Prp8-binding protein; PRP8BP; PRPF8BP; RP11-490K7.3; small nuclear ribonucleoprotein 40kDa (U5); small nuclear ribonucleoprotein, U5 40kDa subunit; SPF38; U5 small nuclear ribonucleoprotein 40 kDa protein; U5 snRNP 40 kDa protein; U5 snRNP-specific 40 kDa protein (hPrp8-binding); U5-40K; U5-40kD protein; WD repeat domain 57 (U5 snRNP specific); WD repeat-containing protein 57; WDR57
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SNRNP40P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38131,259,568 - 31,296,788 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl131,259,568 - 31,296,788 (-)EnsemblGRCh38hg38GRCh38
GRCh37131,732,415 - 31,769,635 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36131,505,002 - 31,542,231 (-)NCBINCBI36Build 36hg18NCBI36
Celera129,988,910 - 30,026,143 (-)NCBICelera
Cytogenetic Map1p35.2NCBI
HuRef129,838,837 - 29,876,344 (-)NCBIHuRef
CHM1_1131,848,319 - 31,885,550 (-)NCBICHM1_1
T2T-CHM13v2.0131,111,784 - 31,149,010 (-)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

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2479028   PMID:9731529   PMID:9774689   PMID:10788320   PMID:11971955   PMID:11991638   PMID:12226669   PMID:12477932   PMID:15489334   PMID:15506927   PMID:16159877   PMID:16169070  
PMID:16429158   PMID:16710414   PMID:16723661   PMID:17041588   PMID:17353931   PMID:18029348   PMID:18212063   PMID:19322201   PMID:19615732   PMID:20360068   PMID:20467437   PMID:21654808  
PMID:21832049   PMID:21873635   PMID:22174317   PMID:22199357   PMID:22658674   PMID:22939629   PMID:22990118   PMID:23084401   PMID:23455491   PMID:23602568   PMID:24332808   PMID:24457600  
PMID:24711643   PMID:24981860   PMID:25544563   PMID:25948554   PMID:26186194   PMID:26299517   PMID:26344197   PMID:26496610   PMID:26673895   PMID:27138336   PMID:27684187   PMID:28076346  
PMID:28302793   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28878014   PMID:29298432   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29773831   PMID:29802200   PMID:29884807  
PMID:30021884   PMID:30209976   PMID:30404004   PMID:30425250   PMID:30463901   PMID:30804502   PMID:30833792   PMID:30884312   PMID:30890647   PMID:30948266   PMID:30975767   PMID:31046837  
PMID:31076518   PMID:31091453   PMID:31343991   PMID:31553912   PMID:31586073   PMID:31796584   PMID:31980649   PMID:32203420   PMID:32416067   PMID:32707033   PMID:32780723   PMID:32814053  
PMID:33144569   PMID:33239621   PMID:33306668   PMID:33536335   PMID:33729478   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34133714   PMID:34189442   PMID:34373451   PMID:34551306  
PMID:34597346   PMID:35013218   PMID:35235311   PMID:35241646   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35831314   PMID:35850772   PMID:35906200   PMID:35915203   PMID:35944360  
PMID:36215168   PMID:36244648   PMID:36526897   PMID:36537216   PMID:36634849   PMID:37054626   PMID:37071682   PMID:37317656   PMID:37689310   PMID:37827155   PMID:38113892   PMID:38172120  
PMID:38697112  


Genomics

Comparative Map Data
SNRNP40
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38131,259,568 - 31,296,788 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl131,259,568 - 31,296,788 (-)EnsemblGRCh38hg38GRCh38
GRCh37131,732,415 - 31,769,635 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36131,505,002 - 31,542,231 (-)NCBINCBI36Build 36hg18NCBI36
Celera129,988,910 - 30,026,143 (-)NCBICelera
Cytogenetic Map1p35.2NCBI
HuRef129,838,837 - 29,876,344 (-)NCBIHuRef
CHM1_1131,848,319 - 31,885,550 (-)NCBICHM1_1
T2T-CHM13v2.0131,111,784 - 31,149,010 (-)NCBIT2T-CHM13v2.0
Snrnp40
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394130,253,925 - 130,283,826 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4130,253,925 - 130,283,819 (+)EnsemblGRCm39 Ensembl
GRCm384130,360,132 - 130,390,033 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4130,360,132 - 130,390,026 (+)EnsemblGRCm38mm10GRCm38
MGSCv374130,037,379 - 130,067,281 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364130,037,379 - 130,067,281 (+)NCBIMGSCv36mm8
Celera4128,693,024 - 128,724,145 (+)NCBICelera
Cytogenetic Map4D2.2NCBI
cM Map463.43NCBI
Snrnp40
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85147,984,758 - 148,017,932 (+)NCBIGRCr8
mRatBN7.25142,700,632 - 142,733,776 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5142,700,534 - 142,733,776 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5145,399,899 - 145,433,055 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05147,169,704 - 147,202,862 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05147,166,681 - 147,199,678 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05148,577,498 - 148,610,658 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5148,577,332 - 148,610,639 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05152,294,724 - 152,327,111 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45149,388,592 - 149,422,973 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15149,398,415 - 149,425,950 (+)NCBI
Celera5141,166,979 - 141,199,871 (+)NCBICelera
Cytogenetic Map5q36NCBI
Snrnp40
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554529,759,452 - 9,793,105 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554529,759,452 - 9,793,105 (-)NCBIChiLan1.0ChiLan1.0
SNRNP40
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21195,536,864 - 195,574,025 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11194,655,594 - 194,692,819 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0130,539,536 - 30,576,753 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1131,559,860 - 31,597,076 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl131,559,860 - 31,597,076 (-)Ensemblpanpan1.1panPan2
SNRNP40
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1269,721,065 - 69,761,306 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl269,721,087 - 69,804,165 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha266,299,527 - 66,339,486 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0270,285,409 - 70,325,441 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl270,285,431 - 70,325,441 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1267,121,212 - 67,161,195 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0268,117,918 - 68,157,891 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0269,117,581 - 69,157,599 (+)NCBIUU_Cfam_GSD_1.0
Snrnp40
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505848,664,879 - 48,700,078 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647414,488,327 - 14,524,883 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647414,489,657 - 14,524,858 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SNRNP40
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl687,839,337 - 87,879,570 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1687,838,894 - 87,879,623 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2681,545,687 - 81,586,288 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SNRNP40
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120101,540,827 - 101,580,298 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20101,540,948 - 101,580,542 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603315,081,984 - 15,133,462 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Snrnp40
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476414,621,002 - 14,649,695 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476414,620,494 - 14,649,768 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SNRNP40
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3 copy number gain See cases [RCV000051801] Chr1:26963045..32279045 [GRCh38]
Chr1:27289536..32744646 [GRCh37]
Chr1:27162123..32517233 [NCBI36]
Chr1:1p36.11-35.2
pathogenic
GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3 copy number gain See cases [RCV000051802] Chr1:31122108..32402160 [GRCh38]
Chr1:31594955..32867761 [GRCh37]
Chr1:31367542..32640348 [NCBI36]
Chr1:1p35.2-35.1
pathogenic
GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1 copy number loss See cases [RCV000053802] Chr1:30766758..33359428 [GRCh38]
Chr1:31239605..33825029 [GRCh37]
Chr1:31012192..33597616 [NCBI36]
Chr1:1p35.2-35.1
pathogenic
GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1 copy number loss See cases [RCV000135447] Chr1:28424867..33122854 [GRCh38]
Chr1:28751378..33588455 [GRCh37]
Chr1:28623965..33361042 [NCBI36]
Chr1:1p35.3-35.1
pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3 copy number gain See cases [RCV000142920] Chr1:30864842..32021241 [GRCh38]
Chr1:31337689..32486842 [GRCh37]
Chr1:31110276..32259429 [NCBI36]
Chr1:1p35.2
uncertain significance
GRCh38/hg38 1p35.2(chr1:30811959-31402772)x1 copy number loss See cases [RCV000142718] Chr1:30811959..31402772 [GRCh38]
Chr1:31284806..31872758 [GRCh37]
Chr1:31057393..31648206 [NCBI36]
Chr1:1p35.2
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
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_004814.3(SNRNP40):c.353A>G (p.Asn118Ser) single nucleotide variant not specified [RCV004321828] Chr1:31291925 [GRCh38]
Chr1:31764772 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.578C>T (p.Thr193Met) single nucleotide variant not specified [RCV004290318] Chr1:31281450 [GRCh38]
Chr1:31754297 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.605A>G (p.Asn202Ser) single nucleotide variant not specified [RCV004304496] Chr1:31281423 [GRCh38]
Chr1:31754270 [GRCh37]
Chr1:1p35.2
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
GRCh37/hg19 1p35.2-34.3(chr1:31562164-37421958)x3 copy number gain not provided [RCV000748949] Chr1:31562164..37421958 [GRCh37]
Chr1:1p35.2-34.3
pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3 copy number gain not provided [RCV001005079] Chr1:30819875..34380419 [GRCh37]
Chr1:1p35.2-35.1
likely pathogenic
GRCh37/hg19 1p35.2(chr1:31766058-31921862)x1 copy number loss not provided [RCV001827729] Chr1:31766058..31921862 [GRCh37]
Chr1:1p35.2
uncertain significance
GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121) copy number gain not specified [RCV002052559] Chr1:27543877..32819121 [GRCh37]
Chr1:1p36.11-35.1
uncertain significance
NM_004814.3(SNRNP40):c.83C>T (p.Ala28Val) single nucleotide variant not specified [RCV004307342] Chr1:31296669 [GRCh38]
Chr1:31769516 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.561C>G (p.Ile187Met) single nucleotide variant not specified [RCV004169450] Chr1:31281467 [GRCh38]
Chr1:31754314 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.161C>T (p.Ser54Phe) single nucleotide variant not specified [RCV004163865] Chr1:31293329 [GRCh38]
Chr1:31766176 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.265C>G (p.Leu89Val) single nucleotide variant not specified [RCV004153510] Chr1:31293225 [GRCh38]
Chr1:31766072 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.738A>C (p.Glu246Asp) single nucleotide variant not specified [RCV004088385] Chr1:31271416 [GRCh38]
Chr1:31744263 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.38C>T (p.Pro13Leu) single nucleotide variant not specified [RCV004278383] Chr1:31296714 [GRCh38]
Chr1:31769561 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.964A>G (p.Lys322Glu) single nucleotide variant not specified [RCV004270282] Chr1:31261589 [GRCh38]
Chr1:31734436 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.583C>A (p.Gln195Lys) single nucleotide variant not specified [RCV004279580] Chr1:31281445 [GRCh38]
Chr1:31754292 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.103G>C (p.Gly35Arg) single nucleotide variant not specified [RCV004306589] Chr1:31296649 [GRCh38]
Chr1:31769496 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.701A>G (p.His234Arg) single nucleotide variant not specified [RCV004356404] Chr1:31271453 [GRCh38]
Chr1:31744300 [GRCh37]
Chr1:1p35.2
uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1
pathogenic
NM_004814.3(SNRNP40):c.140C>T (p.Ala47Val) single nucleotide variant not specified [RCV004464387] Chr1:31296612 [GRCh38]
Chr1:31769459 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.149C>T (p.Pro50Leu) single nucleotide variant not specified [RCV004464388] Chr1:31293341 [GRCh38]
Chr1:31766188 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.20G>T (p.Arg7Leu) single nucleotide variant not specified [RCV004464389] Chr1:31296732 [GRCh38]
Chr1:31769579 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.134T>C (p.Leu45Pro) single nucleotide variant not specified [RCV004464386] Chr1:31296618 [GRCh38]
Chr1:31769465 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.880T>G (p.Ser294Ala) single nucleotide variant not specified [RCV004464391] Chr1:31267911 [GRCh38]
Chr1:31740758 [GRCh37]
Chr1:1p35.2
uncertain significance
NM_004814.3(SNRNP40):c.327T>A (p.Ser109Arg) single nucleotide variant not specified [RCV004670336] Chr1:31291951 [GRCh38]
Chr1:31764798 [GRCh37]
Chr1:1p35.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:906
Count of miRNA genes:441
Interacting mature miRNAs:468
Transcripts:ENST00000263694, ENST00000373720, ENST00000446633, ENST00000463988, ENST00000474025, ENST00000486941, ENST00000489853, ENST00000491106
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human

Markers in Region
AL034116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37131,754,859 - 31,754,992UniSTSGRCh37
Build 36131,527,446 - 31,527,579RGDNCBI36
Celera130,011,356 - 30,011,489RGD
Cytogenetic Map1p35.2UniSTS
HuRef129,861,544 - 29,861,677UniSTS
RH103029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37131,732,523 - 31,732,650UniSTSGRCh37
Build 36131,505,110 - 31,505,237RGDNCBI36
Celera129,989,018 - 29,989,144RGD
Cytogenetic Map1p35.2UniSTS
HuRef129,838,945 - 29,839,071UniSTS
GeneMap99-GB4 RH Map194.52UniSTS
SHGC-154524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37131,766,128 - 31,766,436UniSTSGRCh37
Build 36131,538,715 - 31,539,023RGDNCBI36
Celera130,022,627 - 30,022,935RGD
Cytogenetic Map1p35.2UniSTS
HuRef129,872,827 - 29,873,135UniSTS
TNG Radiation Hybrid Map114800.0UniSTS
SHGC-74523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37131,748,698 - 31,748,859UniSTSGRCh37
Build 36131,521,285 - 31,521,446RGDNCBI36
Celera130,005,192 - 30,005,353RGD
Cytogenetic Map1p35.2UniSTS
HuRef129,855,125 - 29,855,286UniSTS
TNG Radiation Hybrid Map114784.0UniSTS
GeneMap99-GB4 RH Map198.53UniSTS
NCBI RH Map1165.8UniSTS
D1S3561  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p35.2UniSTS
GeneMap99-GB4 RH Map198.53UniSTS
NCBI RH Map1165.8UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000263694   ⟹   ENSP00000263694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl131,259,568 - 31,296,788 (-)Ensembl
Ensembl Acc Id: ENST00000373720   ⟹   ENSP00000362825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl131,259,710 - 31,269,666 (-)Ensembl
Ensembl Acc Id: ENST00000463988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl131,292,844 - 31,296,782 (-)Ensembl
Ensembl Acc Id: ENST00000474025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl131,271,208 - 31,289,419 (-)Ensembl
Ensembl Acc Id: ENST00000486941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl131,259,673 - 31,261,822 (-)Ensembl
Ensembl Acc Id: ENST00000489853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl131,259,674 - 31,282,483 (-)Ensembl
Ensembl Acc Id: ENST00000491106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl131,259,786 - 31,261,077 (-)Ensembl
RefSeq Acc Id: NM_004814   ⟹   NP_004805
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38131,259,568 - 31,296,788 (-)NCBI
GRCh37131,732,415 - 31,769,644 (-)RGD
Build 36131,505,002 - 31,542,231 (-)NCBI Archive
Celera129,988,910 - 30,026,143 (-)RGD
HuRef129,838,837 - 29,876,344 (-)ENTREZGENE
CHM1_1131,848,319 - 31,885,550 (-)NCBI
T2T-CHM13v2.0131,111,784 - 31,149,010 (-)NCBI
Sequence:
RefSeq Acc Id: NP_004805   ⟸   NM_004814
- UniProtKB: O75938 (UniProtKB/Swiss-Prot),   B4DQJ1 (UniProtKB/Swiss-Prot),   O95320 (UniProtKB/Swiss-Prot),   Q96DI7 (UniProtKB/Swiss-Prot),   A0MNP2 (UniProtKB/TrEMBL),   B2R9I9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000362825   ⟸   ENST00000373720
Ensembl Acc Id: ENSP00000263694   ⟸   ENST00000263694

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96DI7-F1-model_v2 AlphaFold Q96DI7 1-357 view protein structure

Promoters
RGD ID:6854780
Promoter ID:EPDNEW_H555
Type:initiation region
Name:SNRNP40_1
Description:small nuclear ribonucleoprotein U5 subunit 40
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38131,296,782 - 31,296,842EPDNEW
RGD ID:6786910
Promoter ID:HG_KWN:1738
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:ENST00000373714,   NM_004814,   OTTHUMT00000010663,   OTTHUMT00000010664,   OTTHUMT00000010666,   OTTHUMT00000010667,   UC001BSQ.1,   UC009VTU.1,   UC009VTV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36131,541,216 - 31,542,587 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30857 AgrOrtholog
COSMIC SNRNP40 COSMIC
Ensembl Genes ENSG00000060688 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000263694 ENTREZGENE
  ENST00000263694.9 UniProtKB/Swiss-Prot
  ENST00000373720.3 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000060688 GTEx
HGNC ID HGNC:30857 ENTREZGENE
Human Proteome Map SNRNP40 Human Proteome Map
InterPro G-protein_beta_WD-40_rep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  U5_snRNP_Component UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9410 ENTREZGENE
OMIM 607797 OMIM
PANTHER U5 SMALL NUCLEAR RIBONUCLEOPROTEIN 40 KDA PROTEIN UniProtKB/Swiss-Prot
  U5 SMALL NUCLEAR RIBONUCLEOPROTEIN 40 KDA PROTEIN UniProtKB/Swiss-Prot
  U5 SMALL NUCLEAR RIBONUCLEOPROTEIN 40 KDA PROTEIN UniProtKB/TrEMBL
  U5 SMALL NUCLEAR RIBONUCLEOPROTEIN 40 KDA PROTEIN UniProtKB/TrEMBL
Pfam WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164726132 PharmGKB
PRINTS GPROTEINBRPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0MNP2 ENTREZGENE, UniProtKB/TrEMBL
  B2R9I9 ENTREZGENE, UniProtKB/TrEMBL
  B4DQJ1 ENTREZGENE
  O75938 ENTREZGENE
  O95320 ENTREZGENE
  Q96DI7 ENTREZGENE
  Q9NSS8_HUMAN UniProtKB/TrEMBL
  SNR40_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DQJ1 UniProtKB/Swiss-Prot
  O75938 UniProtKB/Swiss-Prot
  O95320 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 SNRNP40  small nuclear ribonucleoprotein U5 subunit 40  SNRNP40  small nuclear ribonucleoprotein, U5 40kDa subunit  Symbol and/or name change 5135510 APPROVED
2015-11-10 SNRNP40  small nuclear ribonucleoprotein, U5 40kDa subunit  SNRNP40  small nuclear ribonucleoprotein 40kDa (U5)  Symbol and/or name change 5135510 APPROVED