RSPO1 (R-spondin 1) - Rat Genome Database

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Gene: RSPO1 (R-spondin 1) Homo sapiens
Analyze
Symbol: RSPO1
Name: R-spondin 1
RGD ID: 1603515
HGNC Page HGNC:21679
Description: Enables G protein-coupled receptor binding activity. Involved in positive regulation of canonical Wnt signaling pathway; positive regulation of protein phosphorylation; and regulation of receptor internalization. Predicted to be located in extracellular region. Predicted to be active in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CRISTIN3; FLJ40906; hRspo1; R-spondin homolog; R-spondin-1; R-spondin1; roof plate-specific spondin; roof plate-specific spondin-1; RP11-566C13.1; RSPO
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
GRCh38137,611,350 - 37,634,892 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl137,611,350 - 37,634,892 (-)EnsemblGRCh38hg38GRCh38
GRCh37138,076,951 - 38,100,564 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36137,849,538 - 37,873,078 (-)NCBINCBI36Build 36hg18NCBI36
Celera136,354,952 - 36,378,499 (-)NCBICelera
Cytogenetic Map1p34.3NCBI
HuRef136,194,247 - 36,217,890 (-)NCBIHuRef
CHM1_1138,193,128 - 38,216,770 (-)NCBICHM1_1
T2T-CHM13v2.0137,476,097 - 37,499,638 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
extracellular region  (IEA,NAS,TAS)
extracellular space  (IBA,ISO)
nucleus  (IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Altered R-spondin 1/CART neurocircuit in the hypothalamus contributes to hyperphagia in diabetes. Li JY, etal., J Neurophysiol. 2019 Mar 1;121(3):928-939. doi: 10.1152/jn.00413.2018. Epub 2019 Jan 16.
2. The complex world of WNT receptor signalling. Niehrs C Nat Rev Mol Cell Biol. 2012 Dec;13(12):767-79. doi: 10.1038/nrm3470. Epub 2012 Nov 15.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:14732490   PMID:15489334   PMID:16109882   PMID:16306530   PMID:16344560   PMID:16710414   PMID:17041600   PMID:17400545   PMID:17804805   PMID:18085567  
PMID:18242177   PMID:18250097   PMID:18250098   PMID:18400942   PMID:19376480   PMID:19857464   PMID:20442404   PMID:21252233   PMID:21297984   PMID:21693646   PMID:21727895   PMID:21873635  
PMID:21909076   PMID:22439850   PMID:22575959   PMID:22615920   PMID:22815884   PMID:22895193   PMID:22982762   PMID:23044875   PMID:23617070   PMID:23756651   PMID:23756652   PMID:23809763  
PMID:23891289   PMID:23903657   PMID:24050775   PMID:24144296   PMID:24165923   PMID:24225776   PMID:24349440   PMID:24373193   PMID:24431302   PMID:24639526   PMID:25218283   PMID:25480784  
PMID:25504990   PMID:25825523   PMID:25865226   PMID:26040030   PMID:26186194   PMID:26485405   PMID:26764097   PMID:27270435   PMID:27314333   PMID:27572318   PMID:27604691   PMID:28219935  
PMID:28514442   PMID:29079780   PMID:29262419   PMID:29695632   PMID:29752411   PMID:29769720   PMID:29886802   PMID:30021884   PMID:30096312   PMID:30398036   PMID:30572097   PMID:32761137  
PMID:32814053   PMID:33109540   PMID:33961781   PMID:35854363   PMID:36755192   PMID:38183076  


Genomics

Comparative Map Data
RSPO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38137,611,350 - 37,634,892 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl137,611,350 - 37,634,892 (-)EnsemblGRCh38hg38GRCh38
GRCh37138,076,951 - 38,100,564 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36137,849,538 - 37,873,078 (-)NCBINCBI36Build 36hg18NCBI36
Celera136,354,952 - 36,378,499 (-)NCBICelera
Cytogenetic Map1p34.3NCBI
HuRef136,194,247 - 36,217,890 (-)NCBIHuRef
CHM1_1138,193,128 - 38,216,770 (-)NCBICHM1_1
T2T-CHM13v2.0137,476,097 - 37,499,638 (-)NCBIT2T-CHM13v2.0
Rspo1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394124,880,197 - 124,902,895 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4124,880,223 - 124,902,892 (+)EnsemblGRCm39 Ensembl
GRCm384124,986,401 - 125,009,102 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4124,986,430 - 125,009,099 (+)EnsemblGRCm38mm10GRCm38
MGSCv374124,663,674 - 124,686,343 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364124,488,734 - 124,511,403 (+)NCBIMGSCv36mm8
Celera4123,309,280 - 123,331,929 (+)NCBICelera
Cytogenetic Map4D2.2NCBI
cM Map457.96NCBI
Rspo1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85142,536,162 - 142,557,611 (+)NCBIGRCr8
mRatBN7.25137,251,629 - 137,273,273 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5137,251,659 - 137,272,933 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5139,955,621 - 139,976,971 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05141,725,633 - 141,746,983 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05141,732,808 - 141,754,160 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05142,986,526 - 143,007,847 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5142,986,526 - 143,007,831 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05146,755,088 - 146,776,423 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45144,332,302 - 144,353,646 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5135,769,647 - 135,791,192 (+)NCBICelera
Cytogenetic Map5q36NCBI
Rspo1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545215,415,932 - 15,435,656 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545215,415,417 - 15,435,616 (-)NCBIChiLan1.0ChiLan1.0
RSPO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21189,204,370 - 189,227,895 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11188,333,438 - 188,356,126 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0136,885,176 - 36,907,821 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1138,233,693 - 38,256,903 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl138,231,764 - 38,256,903 (-)Ensemblpanpan1.1panPan2
RSPO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1154,857,887 - 4,876,077 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl154,856,853 - 4,876,800 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha155,109,926 - 5,122,478 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0154,992,103 - 5,010,264 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl154,992,117 - 5,010,264 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1154,856,312 - 4,868,879 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0154,922,700 - 4,935,264 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0154,939,342 - 4,951,919 (+)NCBIUU_Cfam_GSD_1.0
Rspo1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505854,002,026 - 54,021,671 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647419,827,669 - 19,842,726 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647419,826,808 - 19,846,453 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RSPO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl693,665,121 - 93,685,197 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1693,664,839 - 93,690,328 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
RSPO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12095,232,114 - 95,255,160 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2095,237,071 - 95,255,932 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603321,556,202 - 21,575,925 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rspo1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476420,341,756 - 20,359,279 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476420,342,629 - 20,363,498 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RSPO1
66 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001242908.2(RSPO1):c.108dup (p.Ser37Glufs*9) duplication Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome [RCV000001670] Chr1:37616661..37616662 [GRCh38]
Chr1:38082333..38082334 [GRCh37]
Chr1:1p34.3		 pathogenic
NM_001242908.2(RSPO1):c.-288-413_94+1957del deletion Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome [RCV000001671] Chr1:37627611..37630362 [GRCh38]
Chr1:38093283..38096034 [GRCh37]
Chr1:1p34.3		 pathogenic
NM_001242908.2(RSPO1):c.286+1G>A single nucleotide variant Palmoplantar hyperkeratosis and true hermaphroditism [RCV000001672] Chr1:37616483 [GRCh38]
Chr1:38082155 [GRCh37]
Chr1:1p34.3		 pathogenic
GRCh38/hg38 1p34.3(chr1:37443860-37704418)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053658]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053658]|See cases [RCV000053658] Chr1:37443860..37704418 [GRCh38]
Chr1:37909461..38170090 [GRCh37]
Chr1:37682048..37942677 [NCBI36]
Chr1:1p34.3		 benign
GRCh37/hg19 1p34.3(chr1:38005705-38077489)x3 copy number gain See cases [RCV000446942] Chr1:38005705..38077489 [GRCh37]
Chr1:1p34.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001038633.3(RSPO1):c.666T>G (p.Asn222Lys) single nucleotide variant Malignant melanoma [RCV000064754] Chr1:37612881 [GRCh38]
Chr1:38078553 [GRCh37]
Chr1:37851140 [NCBI36]
Chr1:1p34.3		 not provided
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
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 1p34.3(chr1:37766562-38727114)x3 copy number gain See cases [RCV000511268] Chr1:37766562..38727114 [GRCh37]
Chr1:1p34.3		 likely benign
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
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
NM_001242908.2(RSPO1):c.719G>A (p.Arg240Gln) single nucleotide variant not provided [RCV000878130] Chr1:37612828 [GRCh38]
Chr1:38078500 [GRCh37]
Chr1:1p34.3		 benign
NM_001242908.2(RSPO1):c.286+34C>T single nucleotide variant not provided [RCV001676573] Chr1:37616450 [GRCh38]
Chr1:38082122 [GRCh37]
Chr1:1p34.3		 benign
NM_001242908.2(RSPO1):c.*234AC[13] microsatellite not provided [RCV001617291] Chr1:37612499..37612500 [GRCh38]
Chr1:38078171..38078172 [GRCh37]
Chr1:1p34.3		 benign
NM_001242908.2(RSPO1):c.626-37T>A single nucleotide variant not provided [RCV001609564] Chr1:37612958 [GRCh38]
Chr1:38078630 [GRCh37]
Chr1:1p34.3		 benign
NM_001242908.2(RSPO1):c.94+204T>C single nucleotide variant not provided [RCV001595230] Chr1:37629364 [GRCh38]
Chr1:38095036 [GRCh37]
Chr1:1p34.3		 benign
NM_001242908.2(RSPO1):c.287-60G>T single nucleotide variant not provided [RCV001720535] Chr1:37614393 [GRCh38]
Chr1:38080065 [GRCh37]
Chr1:1p34.3		 benign
NM_001242908.2(RSPO1):c.286+33G>A single nucleotide variant not provided [RCV001713702] Chr1:37616451 [GRCh38]
Chr1:38082123 [GRCh37]
Chr1:1p34.3		 benign
NM_001242908.2(RSPO1):c.-288-339G>T single nucleotide variant not provided [RCV001670552] Chr1:37630288 [GRCh38]
Chr1:38095960 [GRCh37]
Chr1:1p34.3		 benign
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
NM_001242908.2(RSPO1):c.95-34C>G single nucleotide variant not provided [RCV001672049] Chr1:37616709 [GRCh38]
Chr1:38082381 [GRCh37]
Chr1:1p34.3		 benign
NM_001242908.2(RSPO1):c.*127T>C single nucleotide variant not provided [RCV001687635] Chr1:37612628 [GRCh38]
Chr1:38078300 [GRCh37]
Chr1:1p34.3		 benign
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 1p34.3(chr1:38031972-38105212)x3 copy number gain not provided [RCV000736461] Chr1:38031972..38105212 [GRCh37]
Chr1:1p34.3		 benign
NM_001242908.2(RSPO1):c.658C>T (p.Arg220Trp) single nucleotide variant not provided [RCV000878485] Chr1:37612889 [GRCh38]
Chr1:38078561 [GRCh37]
Chr1:1p34.3		 likely benign|conflicting interpretations of pathogenicity
NM_001242908.2(RSPO1):c.553G>T (p.Gly185Trp) single nucleotide variant not provided [RCV000981677] Chr1:37613776 [GRCh38]
Chr1:38079448 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001242908.2(RSPO1):c.315C>A (p.Cys105Ter) single nucleotide variant Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal [RCV001337103] Chr1:37614305 [GRCh38]
Chr1:38079977 [GRCh37]
Chr1:1p34.3		 pathogenic
NM_001242908.2(RSPO1):c.-288-183G>A single nucleotide variant not provided [RCV001617634] Chr1:37630132 [GRCh38]
Chr1:38095804 [GRCh37]
Chr1:1p34.3		 benign
NM_001242908.2(RSPO1):c.199A>G (p.Asn67Asp) single nucleotide variant not provided [RCV001770834] Chr1:37616571 [GRCh38]
Chr1:38082243 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.741GCA[5] (p.Gln251dup) microsatellite not provided [RCV002074373]|not specified [RCV001822810] Chr1:37612794..37612795 [GRCh38]
Chr1:38078466..38078467 [GRCh37]
Chr1:1p34.3		 benign
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NM_001242908.2(RSPO1):c.115G>A (p.Ala39Thr) single nucleotide variant Inborn genetic diseases [RCV004043014]|Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome [RCV002503673]|not provided [RCV001934152] Chr1:37616655 [GRCh38]
Chr1:38082327 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.432T>A (p.Ser144Arg) single nucleotide variant not provided [RCV001903736] Chr1:37614188 [GRCh38]
Chr1:38079860 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.481A>G (p.Lys161Glu) single nucleotide variant not provided [RCV002013706] Chr1:37613848 [GRCh38]
Chr1:38079520 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.484A>C (p.Lys162Gln) single nucleotide variant not provided [RCV002084190] Chr1:37613845 [GRCh38]
Chr1:38079517 [GRCh37]
Chr1:1p34.3		 benign
NM_001242908.2(RSPO1):c.608G>A (p.Arg203Lys) single nucleotide variant Inborn genetic diseases [RCV002990012] Chr1:37613721 [GRCh38]
Chr1:38079393 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.659G>A (p.Arg220Gln) single nucleotide variant Inborn genetic diseases [RCV002749573] Chr1:37612888 [GRCh38]
Chr1:38078560 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.417C>G (p.Thr139=) single nucleotide variant RSPO1-related disorder [RCV003943548]|not provided [RCV002913505] Chr1:37614203 [GRCh38]
Chr1:38079875 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001242908.2(RSPO1):c.45G>A (p.Thr15=) single nucleotide variant not provided [RCV003019574] Chr1:37629617 [GRCh38]
Chr1:38095289 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001242908.2(RSPO1):c.115G>C (p.Ala39Pro) single nucleotide variant not provided [RCV002976101] Chr1:37616655 [GRCh38]
Chr1:38082327 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.639G>A (p.Arg213=) single nucleotide variant not provided [RCV002928959] Chr1:37612908 [GRCh38]
Chr1:38078580 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001242908.2(RSPO1):c.507G>A (p.Arg169=) single nucleotide variant not provided [RCV003025058] Chr1:37613822 [GRCh38]
Chr1:38079494 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001242908.2(RSPO1):c.461C>T (p.Ser154Phe) single nucleotide variant not provided [RCV003092051] Chr1:37613868 [GRCh38]
Chr1:38079540 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.294G>C (p.Lys98Asn) single nucleotide variant Inborn genetic diseases [RCV002878416] Chr1:37614326 [GRCh38]
Chr1:38079998 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.60C>T (p.Ser20=) single nucleotide variant not provided [RCV002714873] Chr1:37629602 [GRCh38]
Chr1:38095274 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.464C>T (p.Pro155Leu) single nucleotide variant not provided [RCV002725464] Chr1:37613865 [GRCh38]
Chr1:38079537 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.346G>A (p.Glu116Lys) single nucleotide variant Inborn genetic diseases [RCV003204267] Chr1:37614274 [GRCh38]
Chr1:38079946 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.129C>G (p.Gly43=) single nucleotide variant not provided [RCV003714290] Chr1:37616641 [GRCh38]
Chr1:38082313 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001242908.2(RSPO1):c.252C>T (p.Phe84=) single nucleotide variant not provided [RCV003557919] Chr1:37616518 [GRCh38]
Chr1:38082190 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001242908.2(RSPO1):c.391G>A (p.Glu131Lys) single nucleotide variant not provided [RCV003699967] Chr1:37614229 [GRCh38]
Chr1:38079901 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.286+11G>T single nucleotide variant not provided [RCV003735739] Chr1:37616473 [GRCh38]
Chr1:38082145 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001242908.2(RSPO1):c.620C>T (p.Pro207Leu) single nucleotide variant Inborn genetic diseases [RCV004454615] Chr1:37613709 [GRCh38]
Chr1:38079381 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.128G>A (p.Gly43Asp) single nucleotide variant Inborn genetic diseases [RCV004454612] Chr1:37616642 [GRCh38]
Chr1:38082314 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.585G>T (p.Glu195Asp) single nucleotide variant Inborn genetic diseases [RCV004454613] Chr1:37613744 [GRCh38]
Chr1:38079416 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.44C>T (p.Thr15Met) single nucleotide variant Inborn genetic diseases [RCV004962412] Chr1:37629618 [GRCh38]
Chr1:38095290 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001242908.2(RSPO1):c.728A>C (p.Lys243Thr) single nucleotide variant Inborn genetic diseases [RCV004962417] Chr1:37612819 [GRCh38]
Chr1:38078491 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.529C>T (p.Arg177Cys) single nucleotide variant Inborn genetic diseases [RCV004962414] Chr1:37613800 [GRCh38]
Chr1:38079472 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.704C>T (p.Ala235Val) single nucleotide variant Inborn genetic diseases [RCV004962415] Chr1:37612843 [GRCh38]
Chr1:38078515 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.68G>T (p.Gly23Val) single nucleotide variant Inborn genetic diseases [RCV004962416] Chr1:37629594 [GRCh38]
Chr1:38095266 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.*234AC[12] microsatellite not provided [RCV001696578] Chr1:37612499..37612500 [GRCh38]
Chr1:38078171..38078172 [GRCh37]
Chr1:1p34.3		 benign
GRCh37/hg19 1p34.3(chr1:36041366-39112237) copy number loss not specified [RCV002053236] Chr1:36041366..39112237 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.231G>A (p.Pro77=) single nucleotide variant not provided [RCV002119330] Chr1:37616539 [GRCh38]
Chr1:38082211 [GRCh37]
Chr1:1p34.3		 likely benign
NC_000001.10:g.(?_38003349)_(38273852_?)dup duplication not provided [RCV003122704] Chr1:38003349..38273852 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.445G>A (p.Glu149Lys) single nucleotide variant not provided [RCV002297020] Chr1:37613884 [GRCh38]
Chr1:38079556 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.394G>C (p.Gly132Arg) single nucleotide variant Inborn genetic diseases [RCV003260780] Chr1:37614226 [GRCh38]
Chr1:38079898 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.505C>T (p.Arg169Trp) single nucleotide variant not provided [RCV002620061] Chr1:37613824 [GRCh38]
Chr1:38079496 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.672C>A (p.Asn224Lys) single nucleotide variant Inborn genetic diseases [RCV002893395] Chr1:37612875 [GRCh38]
Chr1:38078547 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.615G>A (p.Pro205=) single nucleotide variant not provided [RCV002624824] Chr1:37613714 [GRCh38]
Chr1:38079386 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001242908.2(RSPO1):c.254del (p.Asp85fs) deletion Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome [RCV003338098]|RSPO1-related disorder [RCV003946497] Chr1:37616516 [GRCh38]
Chr1:38082188 [GRCh37]
Chr1:1p34.3		 likely pathogenic|uncertain significance
NM_001242908.2(RSPO1):c.92G>A (p.Arg31Gln) single nucleotide variant Inborn genetic diseases [RCV003342569] Chr1:37629570 [GRCh38]
Chr1:38095242 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.454G>A (p.Glu152Lys) single nucleotide variant Inborn genetic diseases [RCV003358588] Chr1:37613875 [GRCh38]
Chr1:38079547 [GRCh37]
Chr1:1p34.3		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
NM_001242908.2(RSPO1):c.4C>A (p.Arg2=) single nucleotide variant not provided [RCV003661073] Chr1:37629658 [GRCh38]
Chr1:38095330 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001242908.2(RSPO1):c.516C>T (p.Ser172=) single nucleotide variant not provided [RCV003554922] Chr1:37613813 [GRCh38]
Chr1:38079485 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001242908.2(RSPO1):c.585del (p.Thr196fs) deletion not provided [RCV003681257] Chr1:37613744 [GRCh38]
Chr1:38079416 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.661G>A (p.Glu221Lys) single nucleotide variant Inborn genetic diseases [RCV004661038] Chr1:37612886 [GRCh38]
Chr1:38078558 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.418A>G (p.Met140Val) single nucleotide variant Inborn genetic diseases [RCV004661037] Chr1:37614202 [GRCh38]
Chr1:38079874 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.116C>T (p.Ala39Val) single nucleotide variant Inborn genetic diseases [RCV004661036] Chr1:37616654 [GRCh38]
Chr1:38082326 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001242908.2(RSPO1):c.339G>A (p.Lys113=) single nucleotide variant RSPO1-related disorder [RCV004759279] Chr1:37614281 [GRCh38]
Chr1:38079953 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001242908.2(RSPO1):c.314G>A (p.Cys105Tyr) single nucleotide variant Inborn genetic diseases [RCV004962413] Chr1:37614306 [GRCh38]
Chr1:38079978 [GRCh37]
Chr1:1p34.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3670
Count of miRNA genes:448
Interacting mature miRNAs:481
Transcripts:ENST00000356545, ENST00000373059, ENST00000401068, ENST00000401069, ENST00000401070, ENST00000401071
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
597103639GWAS1199713_Hcorneal topography QTL GWAS1199713 (human)7e-100corneal topography13762705137627052Human
597048947GWAS1145021_Hintraocular pressure measurement QTL GWAS1145021 (human)4e-12intraocular pressure measurement13762705137627052Human
597171743GWAS1267817_Hprotein measurement QTL GWAS1267817 (human)3e-50protein measurement13761384537613846Human
597104159GWAS1200233_Hcorneal topography QTL GWAS1200233 (human)6e-22corneal topography13762705137627052Human
597021439GWAS1117513_Hovarian serous carcinoma QTL GWAS1117513 (human)8e-08ovarian serous carcinoma13763074937630750Human
406947279GWAS596255_Hmalignant epithelial tumor of ovary QTL GWAS596255 (human)1e-08malignant epithelial tumor of ovary13761645037616451Human
597213046GWAS1309120_Hintraocular pressure measurement QTL GWAS1309120 (human)1e-09intraocular pressure measurement13762705137627052Human
407028141GWAS677117_Haxial length measurement QTL GWAS677117 (human)4e-13axial length measurement13762705137627052Human
597165544GWAS1261618_Hopen-angle glaucoma QTL GWAS1261618 (human)1e-13open-angle glaucoma13762592537625926Human
597158182GWAS1254256_Hopen-angle glaucoma QTL GWAS1254256 (human)1e-14open-angle glaucoma13762592537625926Human
597104163GWAS1200237_Hcorneal topography QTL GWAS1200237 (human)4e-10corneal topography13762705137627052Human
597035715GWAS1131789_Hintraocular pressure measurement QTL GWAS1131789 (human)1e-09intraocular pressure measurement13762592537625926Human
406948313GWAS597289_Hmalignant epithelial tumor of ovary QTL GWAS597289 (human)1e-11malignant epithelial tumor of ovary13761645037616451Human
597104398GWAS1200472_Hcorneal topography QTL GWAS1200472 (human)8e-27corneal topography13762705137627052Human
597021356GWAS1117430_Hovarian serous carcinoma QTL GWAS1117430 (human)0.0000002ovarian serous carcinoma13763074937630750Human
597021353GWAS1117427_Hovarian carcinoma QTL GWAS1117427 (human)1e-09ovarian carcinoma13763074937630750Human


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
1183 2322 2443 2010 4312 1426 1918 2 462 927 300 2172 5359 5173 14 3149 1 743 1658 1350 164 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001038633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK098225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA438631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB273983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ165084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ165085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ318235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH797330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF573688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000356545   ⟹   ENSP00000348944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl137,611,350 - 37,634,892 (-)Ensembl
Ensembl Acc Id: ENST00000401068   ⟹   ENSP00000383846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl137,611,812 - 37,634,616 (-)Ensembl
Ensembl Acc Id: ENST00000612451   ⟹   ENSP00000479832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl137,611,350 - 37,634,665 (-)Ensembl
Ensembl Acc Id: ENST00000615459   ⟹   ENSP00000481178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl137,611,350 - 37,634,665 (-)Ensembl
RefSeq Acc Id: NM_001038633   ⟹   NP_001033722
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,611,350 - 37,634,892 (-)NCBI
GRCh37138,076,821 - 38,100,595 (-)NCBI
Build 36137,849,538 - 37,873,078 (-)NCBI Archive
HuRef136,194,247 - 36,217,890 (-)ENTREZGENE
CHM1_1138,193,128 - 38,216,770 (-)NCBI
T2T-CHM13v2.0137,476,097 - 37,499,638 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242908   ⟹   NP_001229837
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,611,350 - 37,634,892 (-)NCBI
GRCh37138,076,821 - 38,100,595 (-)NCBI
HuRef136,194,247 - 36,217,890 (-)ENTREZGENE
CHM1_1138,193,128 - 38,216,770 (-)NCBI
T2T-CHM13v2.0137,476,097 - 37,499,638 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242909   ⟹   NP_001229838
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,611,350 - 37,634,892 (-)NCBI
GRCh37138,076,821 - 38,100,595 (-)NCBI
HuRef136,194,247 - 36,217,890 (-)ENTREZGENE
CHM1_1138,193,128 - 38,216,770 (-)NCBI
T2T-CHM13v2.0137,476,097 - 37,499,638 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242910   ⟹   NP_001229839
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,611,350 - 37,634,892 (-)NCBI
GRCh37138,076,821 - 38,100,595 (-)NCBI
HuRef136,194,247 - 36,217,890 (-)ENTREZGENE
CHM1_1138,193,128 - 38,216,770 (-)NCBI
T2T-CHM13v2.0137,476,097 - 37,499,638 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710583   ⟹   XP_006710646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,611,350 - 37,634,892 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054336134   ⟹   XP_054192109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0137,476,097 - 37,499,638 (-)NCBI
RefSeq Acc Id: NP_001229838   ⟸   NM_001242909
- Peptide Label: isoform 2
- UniProtKB: Q2MKA7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229839   ⟸   NM_001242910
- Peptide Label: isoform 3 precursor
- UniProtKB: Q2MKA7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229837   ⟸   NM_001242908
- Peptide Label: isoform 1 precursor
- UniProtKB: Q5T0F2 (UniProtKB/Swiss-Prot),   Q14C72 (UniProtKB/Swiss-Prot),   Q0H8S6 (UniProtKB/Swiss-Prot),   A2A420 (UniProtKB/Swiss-Prot),   Q8N7L5 (UniProtKB/Swiss-Prot),   Q2MKA7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001033722   ⟸   NM_001038633
- Peptide Label: isoform 1 precursor
- UniProtKB: Q5T0F2 (UniProtKB/Swiss-Prot),   Q14C72 (UniProtKB/Swiss-Prot),   Q0H8S6 (UniProtKB/Swiss-Prot),   A2A420 (UniProtKB/Swiss-Prot),   Q8N7L5 (UniProtKB/Swiss-Prot),   Q2MKA7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006710646   ⟸   XM_006710583
- Peptide Label: isoform X1
- UniProtKB: Q5T0F2 (UniProtKB/Swiss-Prot),   Q14C72 (UniProtKB/Swiss-Prot),   Q0H8S6 (UniProtKB/Swiss-Prot),   A2A420 (UniProtKB/Swiss-Prot),   Q8N7L5 (UniProtKB/Swiss-Prot),   Q2MKA7 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000383846   ⟸   ENST00000401068
Ensembl Acc Id: ENSP00000479832   ⟸   ENST00000612451
Ensembl Acc Id: ENSP00000481178   ⟸   ENST00000615459
Ensembl Acc Id: ENSP00000348944   ⟸   ENST00000356545
RefSeq Acc Id: XP_054192109   ⟸   XM_054336134
- Peptide Label: isoform X1
- UniProtKB: Q5T0F2 (UniProtKB/Swiss-Prot),   Q2MKA7 (UniProtKB/Swiss-Prot),   Q14C72 (UniProtKB/Swiss-Prot),   Q0H8S6 (UniProtKB/Swiss-Prot),   A2A420 (UniProtKB/Swiss-Prot),   Q8N7L5 (UniProtKB/Swiss-Prot)
Protein Domains
TSP type-1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q2MKA7-F1-model_v2 AlphaFold Q2MKA7 1-263 view protein structure

Promoters
RGD ID:6855012
Promoter ID:EPDNEW_H671
Type:initiation region
Name:RSPO1_2
Description:R-spondin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H672  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,634,643 - 37,634,703EPDNEW
RGD ID:6855014
Promoter ID:EPDNEW_H672
Type:initiation region
Name:RSPO1_1
Description:R-spondin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H671  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,634,890 - 37,634,950EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21679 AgrOrtholog
COSMIC RSPO1 COSMIC
Ensembl Genes ENSG00000169218 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000356545 ENTREZGENE
  ENST00000356545.7 UniProtKB/Swiss-Prot
  ENST00000401068 ENTREZGENE
  ENST00000401068.1 UniProtKB/Swiss-Prot
  ENST00000612451 ENTREZGENE
  ENST00000612451.4 UniProtKB/Swiss-Prot
  ENST00000615459 ENTREZGENE
  ENST00000615459.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.20.100.10 UniProtKB/Swiss-Prot
  Hormone Receptor, Insulin-like Growth Factor Receptor 1, Chain A, domain 2 UniProtKB/Swiss-Prot
GTEx ENSG00000169218 GTEx
HGNC ID HGNC:21679 ENTREZGENE
Human Proteome Map RSPO1 Human Proteome Map
InterPro Furin_repeat UniProtKB/Swiss-Prot
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot
  R-spondin UniProtKB/Swiss-Prot
  Rspo_Fu-CRD_dom UniProtKB/Swiss-Prot
  TSP1_rpt UniProtKB/Swiss-Prot
  TSP1_rpt_sf UniProtKB/Swiss-Prot
KEGG Report hsa:284654 UniProtKB/Swiss-Prot
NCBI Gene 284654 ENTREZGENE
OMIM 609595 OMIM
PANTHER NEUROHYPOPHYSIAL HORMONES, N-TERMINAL DOMAIN CONTAINING PROTEIN UniProtKB/Swiss-Prot
  PTHR46987:SF5 UniProtKB/Swiss-Prot
Pfam Furin-like_2 UniProtKB/Swiss-Prot
PharmGKB PA142670967 PharmGKB
PROSITE TSP1 UniProtKB/Swiss-Prot
SMART SM00261 UniProtKB/Swiss-Prot
  TSP1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57184 UniProtKB/Swiss-Prot
  SSF82895 UniProtKB/Swiss-Prot
UniProt A2A420 ENTREZGENE
  Q0H8S6 ENTREZGENE
  Q14C72 ENTREZGENE
  Q2MKA7 ENTREZGENE
  Q5T0F2 ENTREZGENE
  Q8N7L5 ENTREZGENE
  RSPO1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A2A420 UniProtKB/Swiss-Prot
  Q0H8S6 UniProtKB/Swiss-Prot
  Q14C72 UniProtKB/Swiss-Prot
  Q5T0F2 UniProtKB/Swiss-Prot
  Q8N7L5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 RSPO1  R-spondin 1  RSPO1  R-spondin homolog (Xenopus laevis)  Symbol and/or name change 5135510 APPROVED