RBP1 (retinol binding protein 1) - Rat Genome Database

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Gene: RBP1 (retinol binding protein 1) Homo sapiens
Analyze
Symbol: RBP1
Name: retinol binding protein 1
RGD ID: 732391
HGNC Page HGNC:9919
Description: Enables all-trans-retinol binding activity. Involved in lipid homeostasis and vitamin A metabolic process. Located in cytosol; lipid droplet; and nucleoplasm. Implicated in multiple myeloma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cellular retinol binding protein 1; cellular retinol-binding protein I; CRABP-I; CRBP; CRBP-I; CRBP1; CRBPI; hCRBP1; RBPC; retinol binding protein 1, cellular; retinol-binding protein 1; retinol-binding protein 1, cellular
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383139,517,438 - 139,539,742 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3139,517,434 - 139,539,829 (-)EnsemblGRCh38hg38GRCh38
GRCh373139,236,280 - 139,258,584 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363140,718,970 - 140,741,175 (-)NCBINCBI36Build 36hg18NCBI36
Build 343140,718,977 - 140,741,188NCBI
Celera3137,659,177 - 137,681,571 (-)NCBICelera
Cytogenetic Map3q23NCBI
HuRef3136,611,722 - 136,634,115 (-)NCBIHuRef
CHM1_13139,199,741 - 139,222,138 (-)NCBICHM1_1
T2T-CHM13v2.03142,264,863 - 142,287,171 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2,4-trimethylbenzene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
2-bromohexadecanoic acid  (ISO)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
9-cis-retinoic acid  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinal  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP,ISO)
ammonium chloride  (ISO)
arotinoid acid  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
chrysene  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clofibric acid  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
coumarin  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
dexamethasone  (ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (EXP,ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glyphosate  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
hydrazine  (ISO)
inulin  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
methidathion  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-acetyl-beta-D-glucosamine  (EXP)
N-acetyl-D-glucosamine  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP,ISO)
nimesulide  (ISO)
nitrofen  (ISO)
ozone  (ISO)
p-tert-Amylphenol  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parathion  (EXP)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
PhIP  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
propanal  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
SB 431542  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sunitinib  (EXP)
terbufos  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tolcapone  (ISO)
toluene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell body  (IEA,ISO)
cytoplasm  (IEA)
cytosol  (IBA,IDA,IEA,TAS)
lipid droplet  (IDA,IEA)
nucleoplasm  (IDA)
nucleus  (IBA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Immunolocalization of retinoic acid biosynthesis systems in selected sites in rat. Everts HB, etal., Exp Cell Res. 2005 Aug 15;308(2):309-19.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Global methylation analysis identifies prognostically important epigenetically inactivated tumor suppressor genes in multiple myeloma. Kaiser MF, etal., Blood. 2013 Jul 11;122(2):219-26. doi: 10.1182/blood-2013-03-487884. Epub 2013 May 22.
4. Key enzymes of the retinoid (visual) cycle in vertebrate retina. Kiser PD, etal., Biochim Biophys Acta. 2012 Jan;1821(1):137-51. Epub 2011 Apr 5.
5. Physiological insights into all-trans-retinoic acid biosynthesis. Napoli JL Biochim Biophys Acta. 2012 Jan;1821(1):152-67. Epub 2011 May 19.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenzanthracene. Shan L, etal., Carcinogenesis. 2002 Oct;23(10):1561-8.
Additional References at PubMed
PMID:1322170   PMID:1332671   PMID:1654334   PMID:2856408   PMID:2992469   PMID:3356192   PMID:3472205   PMID:7556191   PMID:7666002   PMID:8889548   PMID:9005841   PMID:9452451  
PMID:9858824   PMID:10203351   PMID:11118440   PMID:11274389   PMID:12111198   PMID:12477932   PMID:12631600   PMID:12826154   PMID:12883492   PMID:15009723   PMID:15094224   PMID:15175163  
PMID:15451426   PMID:15608670   PMID:15632377   PMID:15865448   PMID:16344560   PMID:16479010   PMID:17593084   PMID:18193082   PMID:18343808   PMID:19052772   PMID:19288010   PMID:19819239  
PMID:19913121   PMID:19965581   PMID:20403997   PMID:20628086   PMID:21042705   PMID:21067480   PMID:21148318   PMID:21368206   PMID:21382444   PMID:21873635   PMID:21988832   PMID:22049223  
PMID:22449228   PMID:22945948   PMID:23414180   PMID:23890161   PMID:23987825   PMID:24040446   PMID:24269351   PMID:24324551   PMID:24981860   PMID:24982334   PMID:25143356   PMID:25189618  
PMID:25720522   PMID:25879031   PMID:26186194   PMID:26217791   PMID:26900151   PMID:28057518   PMID:28291773   PMID:28514442   PMID:29567208   PMID:29720147   PMID:29791485   PMID:30171051  
PMID:30556317   PMID:32296183   PMID:32587255   PMID:32687490   PMID:32909215   PMID:33596420   PMID:33853758   PMID:33961781   PMID:34775955   PMID:34866280   PMID:34990753   PMID:35253263  
PMID:35269414  


Genomics

Comparative Map Data
RBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383139,517,438 - 139,539,742 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3139,517,434 - 139,539,829 (-)EnsemblGRCh38hg38GRCh38
GRCh373139,236,280 - 139,258,584 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363140,718,970 - 140,741,175 (-)NCBINCBI36Build 36hg18NCBI36
Build 343140,718,977 - 140,741,188NCBI
Celera3137,659,177 - 137,681,571 (-)NCBICelera
Cytogenetic Map3q23NCBI
HuRef3136,611,722 - 136,634,115 (-)NCBIHuRef
CHM1_13139,199,741 - 139,222,138 (-)NCBICHM1_1
T2T-CHM13v2.03142,264,863 - 142,287,171 (-)NCBIT2T-CHM13v2.0
Rbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39998,305,014 - 98,328,604 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl998,305,014 - 98,328,628 (+)EnsemblGRCm39 Ensembl
GRCm38998,422,961 - 98,446,551 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl998,422,961 - 98,446,575 (+)EnsemblGRCm38mm10GRCm38
MGSCv37998,323,380 - 98,346,970 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36998,232,313 - 98,255,903 (+)NCBIMGSCv36mm8
Celera997,975,569 - 97,999,047 (+)NCBICelera
Cytogenetic Map9E3.3NCBI
cM Map951.36NCBI
Rbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88107,904,589 - 107,926,109 (+)NCBIGRCr8
mRatBN7.2899,025,218 - 99,046,740 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl899,025,206 - 99,046,743 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8104,694,098 - 104,715,613 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08102,893,354 - 102,914,875 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08100,735,862 - 100,757,379 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08106,449,321 - 106,470,842 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8106,449,321 - 106,470,842 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08105,891,160 - 105,912,681 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48103,605,870 - 103,627,390 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18103,625,419 - 103,646,845 (+)NCBI
Celera898,434,714 - 98,456,228 (+)NCBICelera
RH 3.4 Map81051.49RGD
Cytogenetic Map8q31NCBI
Rbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555086,046,316 - 6,072,288 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555086,046,738 - 6,072,202 (+)NCBIChiLan1.0ChiLan1.0
RBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22137,431,555 - 137,453,940 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13137,436,285 - 137,458,668 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03136,554,315 - 136,576,682 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13144,153,937 - 144,176,209 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3144,153,937 - 144,176,209 (-)Ensemblpanpan1.1panPan2
RBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12335,677,844 - 35,698,194 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2335,679,176 - 35,698,363 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2335,665,589 - 35,686,876 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02336,214,587 - 36,235,924 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12335,896,788 - 35,918,084 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02335,970,311 - 35,991,556 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02336,212,783 - 36,234,124 (-)NCBIUU_Cfam_GSD_1.0
Rbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560274,860,890 - 74,886,796 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365401,600,398 - 1,626,652 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365401,600,673 - 1,626,573 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1380,380,962 - 80,407,458 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11380,380,958 - 80,407,328 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21388,047,841 - 88,073,765 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RBP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11551,011,664 - 51,033,963 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604123,988,481 - 24,010,687 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rbp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473016,091,863 - 16,119,591 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473016,091,863 - 16,119,591 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RBP1
114 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q22.1-23(chr3:132690641-141064444)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|See cases [RCV000051570] Chr3:132690641..141064444 [GRCh38]
Chr3:132409485..140783286 [GRCh37]
Chr3:133892175..142265976 [NCBI36]
Chr3:3q22.1-23		 pathogenic
GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1 copy number loss See cases [RCV000051572] Chr3:135227451..145870770 [GRCh38]
Chr3:134946293..145588557 [GRCh37]
Chr3:136428983..147071247 [NCBI36]
Chr3:3q22.2-24		 pathogenic
GRCh38/hg38 3q23(chr3:139525129-140095577)x3 copy number gain See cases [RCV000051536] Chr3:139525129..140095577 [GRCh38]
Chr3:139243971..139814419 [GRCh37]
Chr3:140726661..141297109 [NCBI36]
Chr3:3q23		 uncertain significance
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
NM_002899.5(RBP1):c.387_400del (p.Lys131fs) deletion Leber congenital amaurosis [RCV000144471]|not provided [RCV002514775] Chr3:139538819..139538832 [GRCh38]
Chr3:139257661..139257674 [GRCh37]
Chr3:3q23		 uncertain significance
GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1 copy number loss See cases [RCV000134711] Chr3:137932000..144468739 [GRCh38]
Chr3:137650842..144187581 [GRCh37]
Chr3:139133532..145670271 [NCBI36]
Chr3:3q22.3-24		 pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 copy number loss See cases [RCV000136558] Chr3:129817243..143381624 [GRCh38]
Chr3:129536086..143100466 [GRCh37]
Chr3:131018776..144583156 [NCBI36]
Chr3:3q22.1-24		 pathogenic
GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3 copy number gain See cases [RCV000136768] Chr3:138629115..140055056 [GRCh38]
Chr3:138347957..139773898 [GRCh37]
Chr3:139830647..141256588 [NCBI36]
Chr3:3q22.3-23		 pathogenic
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1		 pathogenic|likely benign
GRCh38/hg38 3q23(chr3:139468925-140102684)x3 copy number gain See cases [RCV000138884] Chr3:139468925..140102684 [GRCh38]
Chr3:139187767..139821526 [GRCh37]
Chr3:140670457..141304216 [NCBI36]
Chr3:3q23		 uncertain significance
GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1 copy number loss See cases [RCV000139135] Chr3:137991123..143618786 [GRCh38]
Chr3:137709965..143337628 [GRCh37]
Chr3:139192655..144820318 [NCBI36]
Chr3:3q22.3-24		 pathogenic
GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1 copy number loss See cases [RCV000140453] Chr3:134333553..141701458 [GRCh38]
Chr3:134052395..141420300 [GRCh37]
Chr3:135535085..142902990 [NCBI36]
Chr3:3q22.2-23		 pathogenic
GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1 copy number loss See cases [RCV000140995] Chr3:129817243..141425155 [GRCh38]
Chr3:129536086..141143997 [GRCh37]
Chr3:131018776..142626687 [NCBI36]
Chr3:3q22.1-23		 pathogenic
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23		 uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q23(chr3:139466635-140108900)x3 copy number gain See cases [RCV000142322] Chr3:139466635..140108900 [GRCh38]
Chr3:139185477..139827742 [GRCh37]
Chr3:140668167..141310432 [NCBI36]
Chr3:3q23		 uncertain significance
GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1 copy number loss See cases [RCV000143634] Chr3:132716978..144784743 [GRCh38]
Chr3:132435822..144503585 [GRCh37]
Chr3:133918512..145986275 [NCBI36]
Chr3:3q22.1-24		 pathogenic
GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3 copy number gain See cases [RCV000239877] Chr3:135935129..141867748 [GRCh37]
Chr3:3q22.3-23		 likely pathogenic
GRCh37/hg19 3q23(chr3:139185477-139832220)x3 copy number gain See cases [RCV000511779] Chr3:139185477..139832220 [GRCh37]
Chr3:3q23		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3 copy number gain not provided [RCV000682308] Chr3:138023193..140565017 [GRCh37]
Chr3:3q22.3-23		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q22.2-24(chr3:135288025-146874012) copy number gain not provided [RCV000767703] Chr3:135288025..146874012 [GRCh37]
Chr3:3q22.2-24		 pathogenic
GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3 copy number gain not provided [RCV000846949] Chr3:135186881..140826836 [GRCh37]
Chr3:3q22.2-23		 uncertain significance
GRCh37/hg19 3q23(chr3:139185788-139827742)x3 copy number gain not provided [RCV000846549] Chr3:139185788..139827742 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.126T>C (p.Cys42=) single nucleotide variant not provided [RCV003104676] Chr3:139539593 [GRCh38]
Chr3:139258435 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.334A>G (p.Met112Val) single nucleotide variant not provided [RCV000975014] Chr3:139538885 [GRCh38]
Chr3:139257727 [GRCh37]
Chr3:3q23		 benign
GRCh37/hg19 3q23(chr3:139171944-139827713)x3 copy number gain not provided [RCV001005473] Chr3:139171944..139827713 [GRCh37]
Chr3:3q23		 uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
GRCh37/hg19 3q23(chr3:138737687-142053396)x1 copy number loss not provided [RCV001259239] Chr3:138737687..142053396 [GRCh37]
Chr3:3q23		 pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
NM_002899.5(RBP1):c.366C>G (p.Asn122Lys) single nucleotide variant not provided [RCV002005299] Chr3:139538853 [GRCh38]
Chr3:139257695 [GRCh37]
Chr3:3q23		 uncertain significance
GRCh37/hg19 3q23(chr3:139185478-139827713)x3 copy number gain not provided [RCV001833051] Chr3:139185478..139827713 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.320A>G (p.Gln107Arg) single nucleotide variant not provided [RCV002013652] Chr3:139538899 [GRCh38]
Chr3:139257741 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.92C>A (p.Ala31Asp) single nucleotide variant not provided [RCV002050627] Chr3:139539627 [GRCh38]
Chr3:139258469 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.448A>G (p.Ser150Gly) single nucleotide variant not provided [RCV001881927] Chr3:139518513 [GRCh38]
Chr3:139237355 [GRCh37]
Chr3:3q23		 uncertain significance
NC_000003.11:g.(?_137781658)_(139258560_?)dup duplication not provided [RCV001920549] Chr3:137781658..139258560 [GRCh37]
Chr3:3q22.3-23		 uncertain significance
NM_002899.5(RBP1):c.438+3G>A single nucleotide variant not provided [RCV001997055] Chr3:139538778 [GRCh38]
Chr3:139257620 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.167G>T (p.Trp56Leu) single nucleotide variant not provided [RCV001959390] Chr3:139539552 [GRCh38]
Chr3:139258394 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.427C>T (p.Arg143Cys) single nucleotide variant not provided [RCV002017068] Chr3:139538792 [GRCh38]
Chr3:139257634 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.117del (p.Ser40fs) deletion not provided [RCV001938025] Chr3:139539602 [GRCh38]
Chr3:139258444 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.539T>C (p.Leu180Pro) single nucleotide variant Inborn genetic diseases [RCV002564369]|not provided [RCV001993090] Chr3:139518422 [GRCh38]
Chr3:139237264 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.150C>T (p.Arg50=) single nucleotide variant not provided [RCV002124892] Chr3:139539569 [GRCh38]
Chr3:139258411 [GRCh37]
Chr3:3q23		 benign
NM_002899.5(RBP1):c.456C>T (p.Asp152=) single nucleotide variant not provided [RCV002209581] Chr3:139518505 [GRCh38]
Chr3:139237347 [GRCh37]
Chr3:3q23		 benign
NM_002899.5(RBP1):c.53C>T (p.Pro18Leu) single nucleotide variant not provided [RCV002092624] Chr3:139539666 [GRCh38]
Chr3:139258508 [GRCh37]
Chr3:3q23		 benign
NM_002899.5(RBP1):c.260-20C>G single nucleotide variant not provided [RCV002124538] Chr3:139538979 [GRCh38]
Chr3:139257821 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.501T>C (p.Arg167=) single nucleotide variant not provided [RCV002132827] Chr3:139518460 [GRCh38]
Chr3:139237302 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.27C>G (p.Arg9=) single nucleotide variant not provided [RCV002169279] Chr3:139539692 [GRCh38]
Chr3:139258534 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.540+20C>G single nucleotide variant not provided [RCV002177303] Chr3:139518401 [GRCh38]
Chr3:139237243 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.192A>G (p.Pro64=) single nucleotide variant not provided [RCV002177381] Chr3:139539527 [GRCh38]
Chr3:139258369 [GRCh37]
Chr3:3q23		 benign
NM_002899.5(RBP1):c.438+20T>C single nucleotide variant not provided [RCV002100803] Chr3:139538761 [GRCh38]
Chr3:139257603 [GRCh37]
Chr3:3q23		 benign
NM_002899.5(RBP1):c.240G>A (p.Glu80=) single nucleotide variant not provided [RCV002181218] Chr3:139539479 [GRCh38]
Chr3:139258321 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.438+13G>C single nucleotide variant not provided [RCV002101413] Chr3:139538768 [GRCh38]
Chr3:139257610 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.129C>T (p.Pro43=) single nucleotide variant not provided [RCV002184021] Chr3:139539590 [GRCh38]
Chr3:139258432 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.490_492del (p.Lys164del) deletion not provided [RCV003118215] Chr3:139518469..139518471 [GRCh38]
Chr3:139237311..139237313 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.65T>A (p.Leu22Gln) single nucleotide variant not provided [RCV003118254] Chr3:139539654 [GRCh38]
Chr3:139258496 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.592T>A (p.Ter198Arg) single nucleotide variant not provided [RCV003118815] Chr3:139517629 [GRCh38]
Chr3:139236471 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.25C>T (p.Arg9Cys) single nucleotide variant not provided [RCV003119154] Chr3:139539694 [GRCh38]
Chr3:139258536 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.130G>A (p.Gly44Ser) single nucleotide variant not provided [RCV003121105] Chr3:139539589 [GRCh38]
Chr3:139258431 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.385G>A (p.Val129Ile) single nucleotide variant Inborn genetic diseases [RCV003262664] Chr3:139538834 [GRCh38]
Chr3:139257676 [GRCh37]
Chr3:3q23		 uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_002899.5(RBP1):c.32G>C (p.Gly11Ala) single nucleotide variant not provided [RCV002971352] Chr3:139539687 [GRCh38]
Chr3:139258529 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.211T>G (p.Trp71Gly) single nucleotide variant Inborn genetic diseases [RCV002841417] Chr3:139539508 [GRCh38]
Chr3:139258350 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV002615243] Chr3:139539718 [GRCh38]
Chr3:139258560 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.438+17A>C single nucleotide variant not provided [RCV003034653] Chr3:139538764 [GRCh38]
Chr3:139257606 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.378C>T (p.Asp126=) single nucleotide variant not provided [RCV002618672] Chr3:139538841 [GRCh38]
Chr3:139257683 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.218T>C (p.Met73Thr) single nucleotide variant not provided [RCV002795100] Chr3:139539501 [GRCh38]
Chr3:139258343 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.1A>C (p.Met1Leu) single nucleotide variant not provided [RCV002775341] Chr3:139539718 [GRCh38]
Chr3:139258560 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.502G>A (p.Gly168Ser) single nucleotide variant not provided [RCV002996208] Chr3:139518459 [GRCh38]
Chr3:139237301 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.416G>T (p.Gly139Val) single nucleotide variant not provided [RCV002730795] Chr3:139538803 [GRCh38]
Chr3:139257645 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.436A>G (p.Met146Val) single nucleotide variant not provided [RCV002837827] Chr3:139538783 [GRCh38]
Chr3:139257625 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.315C>T (p.Ile105=) single nucleotide variant not provided [RCV002617259] Chr3:139538904 [GRCh38]
Chr3:139257746 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.9T>C (p.Pro3=) single nucleotide variant not provided [RCV002617617] Chr3:139539710 [GRCh38]
Chr3:139258552 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.179del (p.Leu60fs) deletion not provided [RCV002571903] Chr3:139539540 [GRCh38]
Chr3:139258382 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.259+14G>A single nucleotide variant not provided [RCV002706624] Chr3:139539446 [GRCh38]
Chr3:139258288 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.405G>T (p.Glu135Asp) single nucleotide variant not provided [RCV002949017] Chr3:139538814 [GRCh38]
Chr3:139257656 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.220T>C (p.Leu74=) single nucleotide variant not provided [RCV002885886] Chr3:139539499 [GRCh38]
Chr3:139258341 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.295C>A (p.Leu99Met) single nucleotide variant Inborn genetic diseases [RCV003273985]|not provided [RCV002706036] Chr3:139538924 [GRCh38]
Chr3:139257766 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.125G>A (p.Cys42Tyr) single nucleotide variant not provided [RCV002637004] Chr3:139539594 [GRCh38]
Chr3:139258436 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.531G>A (p.Glu177=) single nucleotide variant not provided [RCV002756753] Chr3:139518430 [GRCh38]
Chr3:139237272 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.88C>T (p.Arg30Trp) single nucleotide variant not provided [RCV002638687] Chr3:139539631 [GRCh38]
Chr3:139258473 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.99C>G (p.His33Gln) single nucleotide variant not provided [RCV002592763] Chr3:139539620 [GRCh38]
Chr3:139258462 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.110G>A (p.Ser37Asn) single nucleotide variant not provided [RCV003037499] Chr3:139539609 [GRCh38]
Chr3:139258451 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.500G>A (p.Arg167His) single nucleotide variant Inborn genetic diseases [RCV002661692]|not provided [RCV003565574] Chr3:139518461 [GRCh38]
Chr3:139237303 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.288C>G (p.Ala96=) single nucleotide variant not provided [RCV002928906] Chr3:139538931 [GRCh38]
Chr3:139257773 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.259+4A>T single nucleotide variant not provided [RCV002876794] Chr3:139539456 [GRCh38]
Chr3:139258298 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.11C>G (p.Pro4Arg) single nucleotide variant Inborn genetic diseases [RCV002742343] Chr3:139539708 [GRCh38]
Chr3:139258550 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.171C>T (p.Leu57=) single nucleotide variant not provided [RCV002790992] Chr3:139539548 [GRCh38]
Chr3:139258390 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.511C>T (p.Gln171Ter) single nucleotide variant not provided [RCV002575317] Chr3:139518450 [GRCh38]
Chr3:139237292 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.104dup (p.Arg36fs) duplication not provided [RCV003042573] Chr3:139539614..139539615 [GRCh38]
Chr3:139258456..139258457 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.510C>T (p.Thr170=) single nucleotide variant not provided [RCV002623816] Chr3:139518451 [GRCh38]
Chr3:139237293 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.10C>A (p.Pro4Thr) single nucleotide variant not provided [RCV002625595] Chr3:139539709 [GRCh38]
Chr3:139258551 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.206G>A (p.Gly69Glu) single nucleotide variant not provided [RCV002786150] Chr3:139539513 [GRCh38]
Chr3:139258355 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.37C>T (p.Pro13Ser) single nucleotide variant not provided [RCV002745496] Chr3:139539682 [GRCh38]
Chr3:139258524 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.110G>C (p.Ser37Thr) single nucleotide variant not provided [RCV002623352] Chr3:139539609 [GRCh38]
Chr3:139258451 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.45C>T (p.Val15=) single nucleotide variant not provided [RCV002626160] Chr3:139539674 [GRCh38]
Chr3:139258516 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.557G>C (p.Gly186Ala) single nucleotide variant not provided [RCV003090935] Chr3:139517664 [GRCh38]
Chr3:139236506 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.196G>T (p.Asp66Tyr) single nucleotide variant not provided [RCV002650830] Chr3:139539523 [GRCh38]
Chr3:139258365 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.153G>A (p.Pro51=) single nucleotide variant not provided [RCV002630936] Chr3:139539566 [GRCh38]
Chr3:139258408 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.243G>A (p.Glu81=) single nucleotide variant not provided [RCV002600236] Chr3:139539476 [GRCh38]
Chr3:139258318 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.14C>G (p.Ala5Gly) single nucleotide variant not provided [RCV002876983] Chr3:139539705 [GRCh38]
Chr3:139258547 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.341T>C (p.Ile114Thr) single nucleotide variant not provided [RCV003047537] Chr3:139538878 [GRCh38]
Chr3:139257720 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.179T>A (p.Leu60His) single nucleotide variant not provided [RCV002856750] Chr3:139539540 [GRCh38]
Chr3:139258382 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.119_120delinsAA (p.Ser40Lys) indel not provided [RCV002810633] Chr3:139539599..139539600 [GRCh38]
Chr3:139258441..139258442 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.138C>G (p.Leu46=) single nucleotide variant not provided [RCV003064147] Chr3:139539581 [GRCh38]
Chr3:139258423 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.537C>G (p.His179Gln) single nucleotide variant not provided [RCV002988715] Chr3:139518424 [GRCh38]
Chr3:139237266 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.138C>T (p.Leu46=) single nucleotide variant not provided [RCV002671339] Chr3:139539581 [GRCh38]
Chr3:139258423 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.257T>G (p.Leu86Arg) single nucleotide variant not provided [RCV002939053] Chr3:139539462 [GRCh38]
Chr3:139258304 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.406G>A (p.Asp136Asn) single nucleotide variant not provided [RCV003030551] Chr3:139538813 [GRCh38]
Chr3:139257655 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.94G>A (p.Ala32Thr) single nucleotide variant not provided [RCV002584335] Chr3:139539625 [GRCh38]
Chr3:139258467 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.128C>T (p.Pro43Leu) single nucleotide variant not provided [RCV002635771] Chr3:139539591 [GRCh38]
Chr3:139258433 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.540+5G>T single nucleotide variant not provided [RCV002584150] Chr3:139518416 [GRCh38]
Chr3:139237258 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.562G>T (p.Val188Phe) single nucleotide variant not provided [RCV003050862] Chr3:139517659 [GRCh38]
Chr3:139236501 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.277C>A (p.Arg93Ser) single nucleotide variant not provided [RCV002583218] Chr3:139538942 [GRCh38]
Chr3:139257784 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.369C>T (p.Tyr123=) single nucleotide variant not provided [RCV002585310] Chr3:139538850 [GRCh38]
Chr3:139257692 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.530A>G (p.Glu177Gly) single nucleotide variant Inborn genetic diseases [RCV002587235]|not provided [RCV002587234] Chr3:139518431 [GRCh38]
Chr3:139237273 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.587T>A (p.Val196Glu) single nucleotide variant not provided [RCV002589377] Chr3:139517634 [GRCh38]
Chr3:139236476 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.150_151delinsTG (p.Pro51Ala) indel not provided [RCV002587576] Chr3:139539568..139539569 [GRCh38]
Chr3:139258410..139258411 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.541-18C>T single nucleotide variant not provided [RCV002635622] Chr3:139517698 [GRCh38]
Chr3:139236540 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.465G>T (p.Lys155Asn) single nucleotide variant not provided [RCV002586086] Chr3:139518496 [GRCh38]
Chr3:139237338 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.347C>T (p.Thr116Met) single nucleotide variant Inborn genetic diseases [RCV003204106] Chr3:139538872 [GRCh38]
Chr3:139257714 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.121C>T (p.Arg41Cys) single nucleotide variant not provided [RCV003873905] Chr3:139539598 [GRCh38]
Chr3:139258440 [GRCh37]
Chr3:3q23		 uncertain significance
Single allele deletion not provided [RCV003448666] Chr3:137912620..141811656 [GRCh37]
Chr3:3q22.3-23		 pathogenic
NM_002899.5(RBP1):c.188T>C (p.Met63Thr) single nucleotide variant not provided [RCV003824568] Chr3:139539531 [GRCh38]
Chr3:139258373 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.46G>A (p.Ala16Thr) single nucleotide variant not provided [RCV003830634] Chr3:139539673 [GRCh38]
Chr3:139258515 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.524G>T (p.Gly175Val) single nucleotide variant not provided [RCV003697772] Chr3:139518437 [GRCh38]
Chr3:139237279 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.59G>T (p.Ser20Ile) single nucleotide variant not provided [RCV003726482] Chr3:139539660 [GRCh38]
Chr3:139258502 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.333T>C (p.His111=) single nucleotide variant not provided [RCV003674227] Chr3:139538886 [GRCh38]
Chr3:139257728 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.64C>T (p.Leu22=) single nucleotide variant not provided [RCV003815015] Chr3:139539655 [GRCh38]
Chr3:139258497 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.439-4G>T single nucleotide variant not provided [RCV003669648] Chr3:139518526 [GRCh38]
Chr3:139237368 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.246C>T (p.Tyr82=) single nucleotide variant not provided [RCV003559623] Chr3:139539473 [GRCh38]
Chr3:139258315 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.134G>T (p.Ser45Ile) single nucleotide variant not provided [RCV003717762] Chr3:139539585 [GRCh38]
Chr3:139258427 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.439A>G (p.Thr147Ala) single nucleotide variant not provided [RCV003731499] Chr3:139518522 [GRCh38]
Chr3:139237364 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.457G>T (p.Gly153Ter) single nucleotide variant not provided [RCV003860946] Chr3:139518504 [GRCh38]
Chr3:139237346 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.409C>G (p.Leu137Val) single nucleotide variant not provided [RCV003555846] Chr3:139538810 [GRCh38]
Chr3:139257652 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.127C>T (p.Pro43Ser) single nucleotide variant not provided [RCV003710492] Chr3:139539592 [GRCh38]
Chr3:139258434 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.491A>C (p.Lys164Thr) single nucleotide variant not provided [RCV003711339] Chr3:139518470 [GRCh38]
Chr3:139237312 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.228C>A (p.Asn76Lys) single nucleotide variant not provided [RCV003678056] Chr3:139539491 [GRCh38]
Chr3:139258333 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.161C>A (p.Ala54Asp) single nucleotide variant not provided [RCV003719091] Chr3:139539558 [GRCh38]
Chr3:139258400 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.260-20C>T single nucleotide variant not provided [RCV003869341] Chr3:139538979 [GRCh38]
Chr3:139257821 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.16G>A (p.Gly6Ser) single nucleotide variant not provided [RCV003822830] Chr3:139539703 [GRCh38]
Chr3:139258545 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.540+5G>A single nucleotide variant not provided [RCV003868975] Chr3:139518416 [GRCh38]
Chr3:139237258 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.460G>C (p.Asp154His) single nucleotide variant not provided [RCV003869073] Chr3:139518501 [GRCh38]
Chr3:139237343 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.519C>T (p.Ile173=) single nucleotide variant not provided [RCV003555452] Chr3:139518442 [GRCh38]
Chr3:139237284 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.144G>A (p.Pro48=) single nucleotide variant not provided [RCV003711249] Chr3:139539575 [GRCh38]
Chr3:139258417 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.127C>G (p.Pro43Ala) single nucleotide variant not provided [RCV003842995] Chr3:139539592 [GRCh38]
Chr3:139258434 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.210C>T (p.Tyr70=) single nucleotide variant not provided [RCV003728161] Chr3:139539509 [GRCh38]
Chr3:139258351 [GRCh37]
Chr3:3q23		 likely benign
NM_002899.5(RBP1):c.258C>G (p.Leu86=) single nucleotide variant not provided [RCV003674950] Chr3:139539461 [GRCh38]
Chr3:139258303 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.427C>G (p.Arg143Gly) single nucleotide variant not provided [RCV003857341] Chr3:139538792 [GRCh38]
Chr3:139257634 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.17G>A (p.Gly6Asp) single nucleotide variant not provided [RCV003728549] Chr3:139539702 [GRCh38]
Chr3:139258544 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.443C>T (p.Thr148Ile) single nucleotide variant not provided [RCV003681659] Chr3:139518518 [GRCh38]
Chr3:139237360 [GRCh37]
Chr3:3q23		 uncertain significance
NM_002899.5(RBP1):c.438+13G>T single nucleotide variant not provided [RCV003708914] Chr3:139538768 [GRCh38]
Chr3:139257610 [GRCh37]
Chr3:3q23		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1842
Count of miRNA genes:963
Interacting mature miRNAs:1121
Transcripts:ENST00000232219, ENST00000474490, ENST00000483943, ENST00000487424, ENST00000492918
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.

Markers in Region
D3S3890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373139,236,320 - 139,236,436UniSTSGRCh37
Build 363140,719,010 - 140,719,126RGDNCBI36
Celera3137,659,221 - 137,659,337RGD
Cytogenetic Map3q23UniSTS
HuRef3136,611,766 - 136,611,882UniSTS
Stanford-G3 RH Map36241.0UniSTS
NCBI RH Map31205.7UniSTS
GeneMap99-G3 RH Map36711.0UniSTS
WI-16259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373139,236,299 - 139,236,403UniSTSGRCh37
Build 363140,718,989 - 140,719,093RGDNCBI36
Celera3137,659,200 - 137,659,304RGD
Cytogenetic Map3q23UniSTS
HuRef3136,611,745 - 136,611,849UniSTS
GeneMap99-GB4 RH Map3497.38UniSTS
Whitehead-RH Map3638.6UniSTS
SHGC-57604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373139,245,032 - 139,245,126UniSTSGRCh37
Build 363140,727,722 - 140,727,816RGDNCBI36
Celera3137,667,933 - 137,668,027RGD
Cytogenetic Map3q23UniSTS
HuRef3136,620,478 - 136,620,572UniSTS


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 7
Medium 742 520 926 408 192 320 531 418 2102 125 1086 400 99 1 107 143 3
Low 1616 1753 781 205 608 134 3647 1681 1612 256 335 1141 75 1054 2574 1 2
Below cutoff 42 625 17 10 880 10 144 86 7 23 16 44 43 70 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA887145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC046134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI130945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI359782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW451931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU734286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX092411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN479224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB324655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC356836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC394326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W72800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000232219   ⟹   ENSP00000232219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,517,434 - 139,539,829 (-)Ensembl
RefSeq Acc Id: ENST00000474490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,517,434 - 139,518,635 (-)Ensembl
RefSeq Acc Id: ENST00000483943   ⟹   ENSP00000424813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,524,407 - 139,539,719 (-)Ensembl
RefSeq Acc Id: ENST00000487424   ⟹   ENSP00000427492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,525,699 - 139,539,688 (-)Ensembl
RefSeq Acc Id: ENST00000492918   ⟹   ENSP00000429166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,526,405 - 139,539,829 (-)Ensembl
RefSeq Acc Id: ENST00000617459   ⟹   ENSP00000477621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,525,785 - 139,539,829 (-)Ensembl
RefSeq Acc Id: ENST00000619087   ⟹   ENSP00000482165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,517,438 - 139,539,636 (-)Ensembl
RefSeq Acc Id: ENST00000672186   ⟹   ENSP00000500931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,517,438 - 139,539,742 (-)Ensembl
RefSeq Acc Id: NM_001130992   ⟹   NP_001124464
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,526,013 - 139,539,742 (-)NCBI
GRCh373139,236,276 - 139,258,671 (-)ENTREZGENE
HuRef3136,611,722 - 136,634,115 (-)ENTREZGENE
CHM1_13139,208,712 - 139,222,138 (-)NCBI
T2T-CHM13v2.03142,273,440 - 142,287,171 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001130993   ⟹   NP_001124465
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,524,411 - 139,539,742 (-)NCBI
GRCh373139,236,276 - 139,258,671 (-)ENTREZGENE
HuRef3136,611,722 - 136,634,115 (-)ENTREZGENE
CHM1_13139,208,092 - 139,222,138 (-)NCBI
T2T-CHM13v2.03142,271,838 - 142,287,171 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365940   ⟹   NP_001352869
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,517,438 - 139,539,636 (-)NCBI
T2T-CHM13v2.03142,264,863 - 142,287,065 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002899   ⟹   NP_002890
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,517,438 - 139,539,742 (-)NCBI
GRCh373139,236,276 - 139,258,671 (-)ENTREZGENE
Build 363140,718,970 - 140,741,175 (-)NCBI Archive
HuRef3136,611,722 - 136,634,115 (-)ENTREZGENE
CHM1_13139,199,741 - 139,222,138 (-)NCBI
T2T-CHM13v2.03142,264,863 - 142,287,171 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_002890   ⟸   NM_002899
- Peptide Label: isoform a
- UniProtKB: A0A0A0MQT0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001124465   ⟸   NM_001130993
- Peptide Label: isoform c
- UniProtKB: P09455 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001124464   ⟸   NM_001130992
- Peptide Label: isoform b
- UniProtKB: P09455 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001352869   ⟸   NM_001365940
- Peptide Label: isoform d
- UniProtKB: P09455 (UniProtKB/Swiss-Prot),   F2Z2F2 (UniProtKB/Swiss-Prot),   E7EWV0 (UniProtKB/Swiss-Prot),   B7Z7A0 (UniProtKB/Swiss-Prot),   A8K2Q0 (UniProtKB/Swiss-Prot),   Q6FGX8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000429166   ⟸   ENST00000492918
RefSeq Acc Id: ENSP00000232219   ⟸   ENST00000232219
RefSeq Acc Id: ENSP00000424813   ⟸   ENST00000483943
RefSeq Acc Id: ENSP00000477621   ⟸   ENST00000617459
RefSeq Acc Id: ENSP00000427492   ⟸   ENST00000487424
RefSeq Acc Id: ENSP00000482165   ⟸   ENST00000619087
RefSeq Acc Id: ENSP00000500931   ⟸   ENST00000672186
Protein Domains
Cytosolic fatty-acid binding proteins

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P09455-F1-model_v2 AlphaFold P09455 1-135 view protein structure

Promoters
RGD ID:6865828
Promoter ID:EPDNEW_H6079
Type:initiation region
Name:RBP1_1
Description:retinol binding protein 1
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
GRCh383139,539,636 - 139,539,696EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9919 AgrOrtholog
COSMIC RBP1 COSMIC
Ensembl Genes ENSG00000114115 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000232219.6 UniProtKB/TrEMBL
  ENST00000483943.6 UniProtKB/TrEMBL
  ENST00000487424.2 UniProtKB/TrEMBL
  ENST00000492918 ENTREZGENE
  ENST00000492918.1 UniProtKB/Swiss-Prot
  ENST00000617459 ENTREZGENE
  ENST00000617459.4 UniProtKB/Swiss-Prot
  ENST00000619087 ENTREZGENE
  ENST00000619087.5 UniProtKB/Swiss-Prot
  ENST00000672186 ENTREZGENE
  ENST00000672186.1 UniProtKB/TrEMBL
Gene3D-CATH 2.40.128.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000114115 GTEx
HGNC ID HGNC:9919 ENTREZGENE
Human Proteome Map RBP1 Human Proteome Map
InterPro Calycin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CRBP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fatty_acid-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ILBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipocln_cytosolic_FA-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5947 UniProtKB/Swiss-Prot
NCBI Gene 5947 ENTREZGENE
OMIM 180260 OMIM
PANTHER PTHR11955 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11955:SF56 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lipocalin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34286 PharmGKB
PRINTS FATTYACIDBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FABP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50814 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MQT0 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MTB9_HUMAN UniProtKB/TrEMBL
  A8K2Q0 ENTREZGENE
  B7Z7A0 ENTREZGENE
  E7EWV0 ENTREZGENE
  F2Z2F2 ENTREZGENE
  H0YAK8_HUMAN UniProtKB/TrEMBL
  P09455 ENTREZGENE
  Q6FGX8 ENTREZGENE
  RET1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K2Q0 UniProtKB/Swiss-Prot
  B7Z7A0 UniProtKB/Swiss-Prot
  E7EWV0 UniProtKB/Swiss-Prot
  F2Z2F2 UniProtKB/Swiss-Prot
  Q6FGX8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 RBP1  retinol binding protein 1  RBP1  retinol binding protein 1, cellular  Symbol and/or name change 5135510 APPROVED