RAB5A (RAB5A, member RAS oncogene family) - Rat Genome Database

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Gene: RAB5A (RAB5A, member RAS oncogene family) Homo sapiens
Analyze
Symbol: RAB5A
Name: RAB5A, member RAS oncogene family
RGD ID: 1342715
HGNC Page HGNC:9783
Description: Enables GDP binding activity; GTP binding activity; and GTPase activity. Involved in several processes, including amyloid-beta clearance by transcytosis; early endosome to late endosome transport; and regulation of exocytosis. Located in several cellular components, including cytoplasmic side of early endosome membrane; nucleoplasm; and terminal bouton.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: RAB5; RAS-associated protein RAB5A; ras-related protein Rab-5A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100420673  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38319,947,097 - 19,985,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl319,947,097 - 19,985,175 (+)EnsemblGRCh38hg38GRCh38
GRCh37319,988,589 - 20,026,667 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36319,963,760 - 20,001,647 (+)NCBINCBI36Build 36hg18NCBI36
Build 34319,963,762 - 20,001,647NCBI
Celera319,929,100 - 19,967,199 (+)NCBICelera
Cytogenetic Map3p24.3NCBI
HuRef319,928,511 - 19,966,511 (+)NCBIHuRef
CHM1_1319,940,747 - 19,978,758 (+)NCBICHM1_1
T2T-CHM13v2.0319,951,230 - 19,989,247 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-ethoxyethanol  (ISO)
2-methoxyethanol  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
beauvericin  (EXP)
benzo[a]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
bisphenol F  (ISO)
bortezomib  (EXP)
caffeine  (EXP)
chromium(6+)  (EXP)
crocidolite asbestos  (ISO)
Cuprizon  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
Di-n-octyl phthalate  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
enniatin  (EXP)
enzyme inhibitor  (EXP)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
haloperidol  (EXP)
ivermectin  (EXP)
melittin  (EXP)
Mesaconitine  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
methyl methanesulfonate  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nefazodone  (ISO)
nitrates  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
rotenone  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
tamibarotene  (EXP)
tamoxifen  (EXP)
taurine  (EXP)
thiram  (EXP)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Rab proteins in endocytosis and Glut4 trafficking. Kaddai V, etal., Acta Physiol (Oxf). 2008 Jan;192(1):75-88.
3. Overview of macroautophagy regulation in mammalian cells. Mehrpour M, etal., Cell Res. 2010 Jul;20(7):748-62. Epub 2010 Jun 15.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. GLUT4 translocation: the last 200 nanometers. Watson RT and Pessin JE, Cell Signal. 2007 Nov;19(11):2209-17. Epub 2007 Jun 21.
Additional References at PubMed
PMID:1516130   PMID:1999336   PMID:2493636   PMID:2501306   PMID:7957092   PMID:7991565   PMID:8294464   PMID:8521472   PMID:8831575   PMID:9045618   PMID:9524117   PMID:9697774  
PMID:9730828   PMID:10329441   PMID:10491193   PMID:10512627   PMID:10720461   PMID:10722846   PMID:10818110   PMID:11062261   PMID:11076863   PMID:11099046   PMID:11493665   PMID:11536198  
PMID:11682489   PMID:11703925   PMID:11718716   PMID:11733506   PMID:11788822   PMID:11792815   PMID:11870209   PMID:11884531   PMID:12034881   PMID:12147258   PMID:12359748   PMID:12432064  
PMID:12433916   PMID:12477932   PMID:12612085   PMID:12668728   PMID:12761223   PMID:12783862   PMID:12832475   PMID:12972505   PMID:14600265   PMID:14613930   PMID:14617813   PMID:14644159  
PMID:14669515   PMID:14978216   PMID:15014045   PMID:15016378   PMID:15023538   PMID:15078902   PMID:15207266   PMID:15328530   PMID:15377662   PMID:15378032   PMID:15388334   PMID:15489334  
PMID:15489336   PMID:15782196   PMID:16034420   PMID:16141272   PMID:16344560   PMID:16354686   PMID:16381901   PMID:16525121   PMID:16554017   PMID:16622416   PMID:16754960   PMID:16890161  
PMID:16902405   PMID:16923123   PMID:17081065   PMID:17173037   PMID:17301141   PMID:17301152   PMID:17353931   PMID:17403676   PMID:17473071   PMID:17524504   PMID:17562788   PMID:17581628  
PMID:17611268   PMID:18005733   PMID:18022941   PMID:18034774   PMID:18498773   PMID:18725540   PMID:18755741   PMID:18767904   PMID:18957427   PMID:18974049   PMID:18982021   PMID:19032933  
PMID:19118546   PMID:19126785   PMID:19322201   PMID:19372461   PMID:19376974   PMID:19398555   PMID:19460345   PMID:19620308   PMID:19656886   PMID:19723633   PMID:19759177   PMID:19795375  
PMID:19819222   PMID:19830447   PMID:19913121   PMID:19923319   PMID:19966785   PMID:20376209   PMID:20412119   PMID:20457610   PMID:20458337   PMID:20472552   PMID:20534488   PMID:20558162  
PMID:20628086   PMID:20847427   PMID:20926780   PMID:20943774   PMID:21068542   PMID:21104291   PMID:21203429   PMID:21252234   PMID:21266579   PMID:21300063   PMID:21378754   PMID:21423773  
PMID:21500550   PMID:21640764   PMID:21645192   PMID:21655223   PMID:21669283   PMID:21835792   PMID:21849022   PMID:21873635   PMID:21895870   PMID:21987812   PMID:21988832   PMID:22178872  
PMID:22341461   PMID:22431521   PMID:22547071   PMID:22558309   PMID:22768177   PMID:22833562   PMID:22939629   PMID:22942286   PMID:22952906   PMID:23048039   PMID:23086000   PMID:23182941  
PMID:23291133   PMID:23382462   PMID:23393387   PMID:23434372   PMID:23454239   PMID:23536683   PMID:23606746   PMID:23687301   PMID:23733193   PMID:23813952   PMID:23815289   PMID:23824909  
PMID:23940042   PMID:24102721   PMID:24334765   PMID:24440914   PMID:24466349   PMID:24576301   PMID:24587345   PMID:24644286   PMID:24659799   PMID:24662486   PMID:24727246   PMID:24788845  
PMID:24848261   PMID:24872409   PMID:24891604   PMID:24980434   PMID:25049275   PMID:25107275   PMID:25152371   PMID:25179218   PMID:25198863   PMID:25281560   PMID:25483964   PMID:25496667  
PMID:25566515   PMID:25711083   PMID:25737280   PMID:25763873   PMID:25869668   PMID:25900982   PMID:25915798   PMID:26005850   PMID:26061722   PMID:26112597   PMID:26168723   PMID:26181205  
PMID:26186194   PMID:26194181   PMID:26195760   PMID:26261586   PMID:26344197   PMID:26344766   PMID:26355680   PMID:26430212   PMID:26443539   PMID:26473288   PMID:26496610   PMID:26528697  
PMID:26582392   PMID:26618866   PMID:26680696   PMID:27023526   PMID:27342126   PMID:27432908   PMID:27462432   PMID:27556945   PMID:27607061   PMID:27666726   PMID:27764233   PMID:27867015  
PMID:28090783   PMID:28103577   PMID:28243729   PMID:28264927   PMID:28455099   PMID:28514442   PMID:28575494   PMID:28634871   PMID:28650718   PMID:28650977   PMID:28675297   PMID:28742203  
PMID:28834690   PMID:28849149   PMID:28867190   PMID:28899395   PMID:28968219   PMID:29053956   PMID:29065764   PMID:29127297   PMID:29128334   PMID:29229926   PMID:29360040   PMID:29361527  
PMID:29469808   PMID:29507755   PMID:29568061   PMID:29626103   PMID:29740032   PMID:29743547   PMID:29868450   PMID:29893854   PMID:30111582   PMID:30333257   PMID:30463901   PMID:30575818  
PMID:30655611   PMID:30659094   PMID:30765602   PMID:30804014   PMID:31091453   PMID:31221728   PMID:31298480   PMID:31337623   PMID:31358736   PMID:31536960   PMID:31558725   PMID:31586073  
PMID:31705388   PMID:31811856   PMID:31980649   PMID:32203420   PMID:32296183   PMID:32304339   PMID:32344865   PMID:32457219   PMID:32560826   PMID:32597834   PMID:32807901   PMID:32814053  
PMID:32913203   PMID:33092247   PMID:33095475   PMID:33137306   PMID:33306668   PMID:33341673   PMID:33416169   PMID:33692360   PMID:33831402   PMID:33845483   PMID:33961781   PMID:34079125  
PMID:34129971   PMID:34281589   PMID:34383013   PMID:34732716   PMID:34826799   PMID:35017116   PMID:35032548   PMID:35271311   PMID:35343654   PMID:35831314   PMID:35944360   PMID:36168628  
PMID:36215168   PMID:36244648   PMID:36424410   PMID:36438897   PMID:36604604   PMID:36610398   PMID:36810288   PMID:36882040   PMID:37054706   PMID:37203239   PMID:37225719   PMID:37267906  
PMID:37314216   PMID:37322017   PMID:37423034   PMID:37725090   PMID:37797694   PMID:37820061   PMID:37827155   PMID:38109552   PMID:38282155   PMID:38470169   PMID:38847490  


Genomics

Comparative Map Data
RAB5A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38319,947,097 - 19,985,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl319,947,097 - 19,985,175 (+)EnsemblGRCh38hg38GRCh38
GRCh37319,988,589 - 20,026,667 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36319,963,760 - 20,001,647 (+)NCBINCBI36Build 36hg18NCBI36
Build 34319,963,762 - 20,001,647NCBI
Celera319,929,100 - 19,967,199 (+)NCBICelera
Cytogenetic Map3p24.3NCBI
HuRef319,928,511 - 19,966,511 (+)NCBIHuRef
CHM1_1319,940,747 - 19,978,758 (+)NCBICHM1_1
T2T-CHM13v2.0319,951,230 - 19,989,247 (+)NCBIT2T-CHM13v2.0
Rab5a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391753,786,262 - 53,814,706 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1753,786,262 - 53,814,708 (+)EnsemblGRCm39 Ensembl
GRCm381753,479,234 - 53,507,678 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1753,479,234 - 53,507,680 (+)EnsemblGRCm38mm10GRCm38
MGSCv371753,618,559 - 53,647,003 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361752,944,163 - 52,972,607 (+)NCBIMGSCv36mm8
Celera1756,925,059 - 56,953,192 (+)NCBICelera
Cytogenetic Map17CNCBI
cM Map1727.82NCBI
Rab5a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr896,720,057 - 6,749,456 (+)NCBIGRCr8
mRatBN7.296,483,906 - 6,512,877 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl96,484,469 - 6,512,873 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx97,630,486 - 7,658,751 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0912,788,023 - 12,816,289 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0911,952,310 - 11,980,643 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.095,910 - 6,065 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.095,572 - 5,722 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.491,492,864 - 1,516,405NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.191,492,865 - 1,516,405NCBI
Cytogenetic Map9q11NCBI
Rab5a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495543011,991,548 - 12,040,003 (+)NCBIChiLan1.0ChiLan1.0
RAB5A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2219,913,592 - 19,951,348 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1319,918,359 - 19,956,115 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0319,866,110 - 19,903,701 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1320,197,067 - 20,234,579 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl320,197,067 - 20,234,579 (+)Ensemblpanpan1.1panPan2
RAB5A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12323,303,650 - 23,333,571 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2323,304,940 - 23,332,206 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2323,330,152 - 23,357,439 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02323,790,486 - 23,820,520 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2323,788,850 - 23,819,221 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12323,503,982 - 23,531,284 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02323,569,385 - 23,596,703 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02323,815,500 - 23,842,853 (-)NCBIUU_Cfam_GSD_1.0
Rab5a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118179,099,612 - 179,128,766 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647312,238,156 - 12,269,089 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647312,238,226 - 12,267,339 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAB5A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl136,905,390 - 6,941,423 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1136,905,302 - 6,940,165 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
RAB5A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11564,678,910 - 64,715,228 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1564,682,723 - 64,713,928 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604137,700,148 - 37,736,488 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rab5a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248215,271,246 - 5,311,469 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RAB5A
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p24.3(chr3:18179713-22678013)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051507]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051507]|See cases [RCV000051507] Chr3:18179713..22678013 [GRCh38]
Chr3:18221205..22719504 [GRCh37]
Chr3:18196209..22694508 [NCBI36]
Chr3:3p24.3
pathogenic
GRCh38/hg38 3p24.3(chr3:18253476-20137057)x3 copy number gain See cases [RCV000051439] Chr3:18253476..20137057 [GRCh38]
Chr3:18294968..20178549 [GRCh37]
Chr3:18269972..20153553 [NCBI36]
Chr3:3p24.3
uncertain significance
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2
pathogenic
GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3 copy number gain See cases [RCV000051721] Chr3:19915382..25537973 [GRCh38]
Chr3:19956874..25579464 [GRCh37]
Chr3:19931878..25554468 [NCBI36]
Chr3:3p24.3-24.2
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1
pathogenic
GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4 copy number gain See cases [RCV000143767] Chr3:14360747..21656134 [GRCh38]
Chr3:14402247..21697626 [GRCh37]
Chr3:14377251..21672630 [NCBI36]
Chr3:3p25.1-24.3
pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2
pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1
pathogenic
GRCh38/hg38 3p24.3(chr3:18366779-20647947)x1 copy number loss See cases [RCV000136545] Chr3:18366779..20647947 [GRCh38]
Chr3:18408271..20689439 [GRCh37]
Chr3:18383275..20664443 [NCBI36]
Chr3:3p24.3
uncertain significance
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1
pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3
pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2
pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 copy number gain not provided [RCV000682249] Chr3:16923595..45249923 [GRCh37]
Chr3:3p24.3-21.31
pathogenic
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 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p25.2-24.2(chr3:13276005-24295240)x3 copy number gain not provided [RCV000742260] Chr3:13276005..24295240 [GRCh37]
Chr3:3p25.2-24.2
pathogenic
NM_004162.5(RAB5A):c.567A>G (p.Pro189=) single nucleotide variant not provided [RCV000954394] Chr3:19983742 [GRCh38]
Chr3:20025234 [GRCh37]
Chr3:3p24.3
benign
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2
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 3p24.3(chr3:19961330-20231519)x3 copy number gain not provided [RCV000742285] Chr3:19961330..20231519 [GRCh37]
Chr3:3p24.3
benign
Single allele deletion 3p- syndrome [RCV002280352] Chr3:13371737..20095506 [GRCh38]
Chr3:3p25.1-24.3
pathogenic
GRCh37/hg19 3p24.3(chr3:19833713-20933527)x3 copy number gain not provided [RCV000849357] Chr3:19833713..20933527 [GRCh37]
Chr3:3p24.3
uncertain significance
GRCh37/hg19 3p24.3-24.1(chr3:19064852-26448689)x1 copy number loss not provided [RCV000848353] Chr3:19064852..26448689 [GRCh37]
Chr3:3p24.3-24.1
pathogenic
NM_004162.5(RAB5A):c.*1094C>G single nucleotide variant not provided [RCV001535087] Chr3:19984917 [GRCh38]
Chr3:20026409 [GRCh37]
Chr3:3p24.3
benign
NM_004162.5(RAB5A):c.325G>A (p.Ala109Thr) single nucleotide variant not specified [RCV004258738] Chr3:19976056 [GRCh38]
Chr3:20017548 [GRCh37]
Chr3:3p24.3
uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
NC_000003.11:g.(?_16710965)_(41275270_?)del deletion not provided [RCV001958625] Chr3:16710965..41275270 [GRCh37]
Chr3:3p24.3-22.1
pathogenic
NM_004162.5(RAB5A):c.373A>G (p.Asn125Asp) single nucleotide variant not specified [RCV004191439] Chr3:19976104 [GRCh38]
Chr3:20017596 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_004162.5(RAB5A):c.16G>A (p.Ala6Thr) single nucleotide variant not specified [RCV004177171] Chr3:19950914 [GRCh38]
Chr3:19992406 [GRCh37]
Chr3:3p24.3
uncertain significance
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1
pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 copy number gain not provided [RCV004577500] Chr3:60000..34461438 [GRCh37]
Chr3:3p26.3-22.3
pathogenic
NM_004162.5(RAB5A):c.511A>G (p.Asn171Asp) single nucleotide variant not specified [RCV004852241] Chr3:19978382 [GRCh38]
Chr3:20019874 [GRCh37]
Chr3:3p24.3
uncertain significance
GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3 copy number gain See cases [RCV002287839] Chr3:13836340..25357427 [GRCh37]
Chr3:3p25.1-24.2
pathogenic
NM_004162.5(RAB5A):c.416A>G (p.Asn139Ser) single nucleotide variant not specified [RCV004158934] Chr3:19976147 [GRCh38]
Chr3:20017639 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_004162.5(RAB5A):c.190C>T (p.Leu64Phe) single nucleotide variant not specified [RCV004287158] Chr3:19975627 [GRCh38]
Chr3:20017119 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_004162.5(RAB5A):c.395G>A (p.Gly132Glu) single nucleotide variant not provided [RCV003456588] Chr3:19976126 [GRCh38]
Chr3:20017618 [GRCh37]
Chr3:3p24.3
uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3
pathogenic
NM_004162.5(RAB5A):c.478A>C (p.Met160Leu) single nucleotide variant not specified [RCV004443220] Chr3:19978349 [GRCh38]
Chr3:20019841 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_004162.5(RAB5A):c.370C>G (p.Pro124Ala) single nucleotide variant not specified [RCV004665067] Chr3:19976101 [GRCh38]
Chr3:20017593 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_004162.5(RAB5A):c.289A>G (p.Ile97Val) single nucleotide variant not specified [RCV004669420] Chr3:19975726 [GRCh38]
Chr3:20017218 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_004162.5(RAB5A):c.507T>A (p.Asn169Lys) single nucleotide variant not specified [RCV004665066] Chr3:19978378 [GRCh38]
Chr3:20019870 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_004162.5(RAB5A):c.40A>T (p.Thr14Ser) single nucleotide variant not specified [RCV004852238] Chr3:19950938 [GRCh38]
Chr3:19992430 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_004162.5(RAB5A):c.523A>G (p.Met175Val) single nucleotide variant not specified [RCV004852239] Chr3:19978394 [GRCh38]
Chr3:20019886 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_004162.5(RAB5A):c.210G>C (p.Lys70Asn) single nucleotide variant not specified [RCV004852240] Chr3:19975647 [GRCh38]
Chr3:20017139 [GRCh37]
Chr3:3p24.3
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1406
Count of miRNA genes:659
Interacting mature miRNAs:734
Transcripts:ENST00000273047, ENST00000412966, ENST00000422242, ENST00000443878, ENST00000446547, ENST00000469122, ENST00000473608, ENST00000476544
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
597226632GWAS1322706_Hheel bone mineral density QTL GWAS1322706 (human)2e-16heel bone mineral densitybone mineral density (CMO:0001226)31995736419957365Human
597390392GWAS1486466_Hheel bone mineral density QTL GWAS1486466 (human)9e-11heel bone mineral densitybone mineral density (CMO:0001226)31998236719982368Human
2316345GLUCO224_HGlucose level QTL 224 (human)1.270.008Glucose level3121543441Human
597227844GWAS1323918_Heye colour measurement QTL GWAS1323918 (human)0.000005eye colour measurementeye morphological measurement (CMO:0003080)31995803719958038Human
597264228GWAS1360302_Hschizophrenia QTL GWAS1360302 (human)0.000004schizophrenia31996039219960393Human

Markers in Region
RH91784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37320,026,433 - 20,026,615UniSTSGRCh37
Build 36320,001,437 - 20,001,619RGDNCBI36
Celera319,966,965 - 19,967,147RGD
Cytogenetic Map3p24-p22UniSTS
Cytogenetic Map3p24.3UniSTS
HuRef319,966,277 - 19,966,459UniSTS
GeneMap99-GB4 RH Map373.61UniSTS
D3S2948E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37320,025,531 - 20,025,650UniSTSGRCh37
Build 36320,000,535 - 20,000,654RGDNCBI36
Celera319,966,062 - 19,966,181RGD
Cytogenetic Map3p24-p22UniSTS
Cytogenetic Map3p24.3UniSTS
HuRef319,965,374 - 19,965,493UniSTS
D3S3483E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37320,025,746 - 20,025,865UniSTSGRCh37
Build 36320,000,750 - 20,000,869RGDNCBI36
Celera319,966,278 - 19,966,397RGD
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map3p24-p22UniSTS
HuRef319,965,590 - 19,965,709UniSTS
RAB5A_779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37320,025,966 - 20,026,761UniSTSGRCh37
Build 36320,000,970 - 20,001,765RGDNCBI36
Celera319,966,498 - 19,967,293RGD
HuRef319,965,810 - 19,966,605UniSTS
HSC13E052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37320,026,433 - 20,026,658UniSTSGRCh37
Build 36320,001,437 - 20,001,662RGDNCBI36
Celera319,966,965 - 19,967,190RGD
Cytogenetic Map3p24-p22UniSTS
Cytogenetic Map3p24.3UniSTS
HuRef319,966,277 - 19,966,502UniSTS
Whitehead-YAC Contig Map3 UniSTS


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 2252 4974 1726 2351 6 624 1951 465 2270 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001292048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC097635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF464088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BJ991078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA972638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC330362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M28215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000273047   ⟹   ENSP00000273047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl319,947,097 - 19,985,175 (+)Ensembl
Ensembl Acc Id: ENST00000412966   ⟹   ENSP00000403533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl319,947,379 - 19,976,103 (+)Ensembl
Ensembl Acc Id: ENST00000422242   ⟹   ENSP00000411941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl319,947,405 - 19,984,450 (+)Ensembl
Ensembl Acc Id: ENST00000443878   ⟹   ENSP00000398450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl319,947,250 - 19,950,944 (+)Ensembl
Ensembl Acc Id: ENST00000446547   ⟹   ENSP00000396632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl319,947,399 - 19,984,147 (+)Ensembl
Ensembl Acc Id: ENST00000469122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl319,951,001 - 19,978,891 (+)Ensembl
Ensembl Acc Id: ENST00000473608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl319,975,516 - 19,984,121 (+)Ensembl
Ensembl Acc Id: ENST00000476544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl319,947,410 - 19,951,225 (+)Ensembl
RefSeq Acc Id: NM_001292048   ⟹   NP_001278977
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38319,947,097 - 19,985,175 (+)NCBI
CHM1_1319,940,747 - 19,978,758 (+)NCBI
T2T-CHM13v2.0319,951,230 - 19,989,247 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004162   ⟹   NP_004153
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38319,947,097 - 19,985,175 (+)NCBI
GRCh37319,988,572 - 20,026,667 (+)ENTREZGENE
Build 36319,963,760 - 20,001,647 (+)NCBI Archive
HuRef319,928,511 - 19,966,511 (+)ENTREZGENE
CHM1_1319,940,747 - 19,978,758 (+)NCBI
T2T-CHM13v2.0319,951,230 - 19,989,247 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047448648   ⟹   XP_047304604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38319,950,987 - 19,985,175 (+)NCBI
RefSeq Acc Id: XM_054347413   ⟹   XP_054203388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0319,955,132 - 19,989,247 (+)NCBI
RefSeq Acc Id: NP_004153   ⟸   NM_004162
- Peptide Label: isoform 1
- UniProtKB: B4DJA5 (UniProtKB/Swiss-Prot),   Q6FI44 (UniProtKB/Swiss-Prot),   P20339 (UniProtKB/Swiss-Prot),   A0A0A1HAN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278977   ⟸   NM_001292048
- Peptide Label: isoform 2
- UniProtKB: A0A0A1HAN9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000403533   ⟸   ENST00000412966
Ensembl Acc Id: ENSP00000398450   ⟸   ENST00000443878
Ensembl Acc Id: ENSP00000273047   ⟸   ENST00000273047
Ensembl Acc Id: ENSP00000396632   ⟸   ENST00000446547
Ensembl Acc Id: ENSP00000411941   ⟸   ENST00000422242
RefSeq Acc Id: XP_047304604   ⟸   XM_047448648
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203388   ⟸   XM_054347413
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P20339-F1-model_v2 AlphaFold P20339 1-215 view protein structure

Promoters
RGD ID:6863772
Promoter ID:EPDNEW_H5051
Type:initiation region
Name:RAB5A_2
Description:RAB5A, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5052  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38319,947,144 - 19,947,204EPDNEW
RGD ID:6863774
Promoter ID:EPDNEW_H5052
Type:initiation region
Name:RAB5A_1
Description:RAB5A, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5051  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38319,947,379 - 19,947,439EPDNEW
RGD ID:6801138
Promoter ID:HG_KWN:44020
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000252137,   OTTHUMT00000339744,   OTTHUMT00000339745,   OTTHUMT00000339746,   OTTHUMT00000339747,   OTTHUMT00000339748,   OTTHUMT00000339749,   OTTHUMT00000339753,   UC003CBM.1,   UC010HEY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36319,962,701 - 19,964,537 (+)MPROMDB
RGD ID:6851550
Promoter ID:EP73576
Type:initiation region
Name:HS_RAB5A
Description:RAB5A, member RAS oncogene family.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36319,963,868 - 19,963,928EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9783 AgrOrtholog
COSMIC RAB5A COSMIC
Ensembl Genes ENSG00000144566 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000273047 ENTREZGENE
  ENST00000273047.9 UniProtKB/Swiss-Prot
  ENST00000412966.5 UniProtKB/TrEMBL
  ENST00000422242 ENTREZGENE
  ENST00000422242.1 UniProtKB/Swiss-Prot
  ENST00000443878.1 UniProtKB/TrEMBL
  ENST00000446547.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000144566 GTEx
HGNC ID HGNC:9783 ENTREZGENE
Human Proteome Map RAB5A Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5868 UniProtKB/Swiss-Prot
NCBI Gene 5868 ENTREZGENE
OMIM 179512 OMIM
PANTHER PTHR47978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ras UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34143 PharmGKB
PRINTS RASTRNSFRMNG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS UniProtKB/TrEMBL
  RHO UniProtKB/TrEMBL
SMART RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A1HAN9 ENTREZGENE, UniProtKB/TrEMBL
  B4DJA5 ENTREZGENE
  C9J3X8_HUMAN UniProtKB/TrEMBL
  F8WCY6_HUMAN UniProtKB/TrEMBL
  F8WD79_HUMAN UniProtKB/TrEMBL
  P20339 ENTREZGENE
  Q6FI44 ENTREZGENE
  RAB5A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DJA5 UniProtKB/Swiss-Prot
  Q6FI44 UniProtKB/Swiss-Prot