RAB1B (RAB1B, member RAS oncogene family) - Rat Genome Database

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Gene: RAB1B (RAB1B, member RAS oncogene family) Homo sapiens
Analyze
Symbol: RAB1B
Name: RAB1B, member RAS oncogene family
RGD ID: 1345480
HGNC Page HGNC
Description: Enables GTP binding activity. Involved in several processes, including endoplasmic reticulum to Golgi vesicle-mediated transport; positive regulation of glycoprotein metabolic process; and regulation of autophagosome assembly. Located in Golgi apparatus and phagophore assembly site membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: ras-related protein Rab-1B; small GTP-binding protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RAB1C  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1166,268,590 - 66,277,492 (+)EnsemblGRCh38hg38GRCh38
GRCh381166,268,526 - 66,277,492 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371166,036,110 - 66,044,963 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361165,792,632 - 65,801,539 (+)NCBINCBI36hg18NCBI36
Build 341165,792,680 - 65,801,539NCBI
Cytogenetic Map11q13.2NCBI
HuRef1162,361,564 - 62,370,459 (+)NCBIHuRef
CHM1_11165,920,155 - 65,929,064 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1918138   PMID:7592724   PMID:8836150   PMID:9030196   PMID:9437002   PMID:10493955   PMID:11076863   PMID:11230166   PMID:11256614   PMID:11306556   PMID:12051767   PMID:12477932  
PMID:12802079   PMID:15489334   PMID:15489336   PMID:15694364   PMID:15796781   PMID:16381901   PMID:17353931   PMID:17429068   PMID:17474147   PMID:17947549   PMID:18187620   PMID:19786618  
PMID:20164217   PMID:20458337   PMID:20545908   PMID:20937701   PMID:20980813   PMID:21093099   PMID:21378754   PMID:21680502   PMID:21832049   PMID:21873635   PMID:21926972   PMID:21988832  
PMID:22011575   PMID:22260459   PMID:22863883   PMID:22939629   PMID:23188820   PMID:23236136   PMID:23246001   PMID:23288104   PMID:23325787   PMID:23824909   PMID:23885123   PMID:24457600  
PMID:25107275   PMID:25970785   PMID:26186194   PMID:26344197   PMID:26472760   PMID:26824392   PMID:26949739   PMID:26977884   PMID:27342126   PMID:27462432   PMID:27712585   PMID:28316326  
PMID:28319085   PMID:28514442   PMID:28515276   PMID:28522593   PMID:28718761   PMID:28977666   PMID:29020629   PMID:29128334   PMID:29509190   PMID:29564676   PMID:29568061   PMID:29845934  
PMID:29955894   PMID:30559450   PMID:30575818   PMID:30655362   PMID:30804014   PMID:31046837   PMID:31091453   PMID:31180492   PMID:31182584   PMID:31300519   PMID:31375559   PMID:31527615  
PMID:31586073   PMID:31723608   PMID:31980649   PMID:32176628   PMID:32203420   PMID:32235678   PMID:32296183   PMID:32913203   PMID:33022573   PMID:33144569   PMID:33469029   PMID:33961781  
PMID:34079125   PMID:34709727  


Genomics

Comparative Map Data
RAB1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1166,268,590 - 66,277,492 (+)EnsemblGRCh38hg38GRCh38
GRCh381166,268,526 - 66,277,492 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371166,036,110 - 66,044,963 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361165,792,632 - 65,801,539 (+)NCBINCBI36hg18NCBI36
Build 341165,792,680 - 65,801,539NCBI
Cytogenetic Map11q13.2NCBI
HuRef1162,361,564 - 62,370,459 (+)NCBIHuRef
CHM1_11165,920,155 - 65,929,064 (+)NCBICHM1_1
Rab1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39195,149,235 - 5,157,024 (-)NCBIGRCm39mm39
GRCm39 Ensembl195,149,233 - 5,157,100 (-)Ensembl
GRCm38195,099,207 - 5,106,996 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl195,099,205 - 5,107,072 (-)EnsemblGRCm38mm10GRCm38
MGSCv37195,099,207 - 5,106,996 (-)NCBIGRCm37mm9NCBIm37
MGSCv36195,099,207 - 5,106,996 (-)NCBImm8
Celera194,968,413 - 4,976,202 (-)NCBICelera
Cytogenetic Map19ANCBI
Rab1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21202,405,759 - 202,413,850 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1202,405,759 - 202,413,868 (-)Ensembl
Rnor_6.01220,483,529 - 220,491,469 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1220,480,834 - 220,491,469 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01227,414,583 - 227,422,523 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41207,720,833 - 207,727,458 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1199,945,209 - 199,953,183 (-)NCBICelera
Cytogenetic Map1q43NCBI
Rab1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542219,039,632 - 19,047,088 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542219,039,741 - 19,047,088 (-)NCBIChiLan1.0ChiLan1.0
RAB1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11164,959,957 - 64,968,843 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1164,959,957 - 64,968,843 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01161,634,017 - 61,642,945 (+)NCBIMhudiblu_PPA_v0panPan3
RAB1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11851,026,975 - 51,034,356 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1851,028,013 - 51,034,473 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1849,635,724 - 49,643,112 (-)NCBI
ROS_Cfam_1.01852,065,422 - 52,072,793 (-)NCBI
ROS_Cfam_1.0 Ensembl1852,065,422 - 52,072,757 (-)Ensembl
UMICH_Zoey_3.11851,165,421 - 51,172,793 (-)NCBI
UNSW_CanFamBas_1.01850,739,588 - 50,746,974 (-)NCBI
UU_Cfam_GSD_1.01851,529,728 - 51,537,099 (-)NCBI
Rab1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049476,874,909 - 6,881,904 (-)NCBI
SpeTri2.0NW_0049365993,317,258 - 3,324,208 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAB1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.117,989,521 - 7,998,371 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl17,989,101 - 7,998,105 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038105,271,045 - 105,280,234 (-)NCBIVero_WHO_p1.0
Rab1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476720,091,120 - 20,098,855 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH69692  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q12UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR502hsa-miR-502-5pOncomiRDBexternal_infoNANA22580605

Predicted Target Of
Summary Value
Count of predictions:1509
Count of miRNA genes:635
Interacting mature miRNAs:739
Transcripts:ENST00000311481, ENST00000527397
Prediction methods: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.


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 2 2 2 12 2
Medium 2432 2981 1721 621 1948 462 4356 2191 3708 417 1437 1606 171 1204 2788 4 1
Low 7 10 3 1 3 1 1 6 26 2 11 5 4 1 2 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000311481   ⟹   ENSP00000310226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,268,639 - 66,277,492 (+)Ensembl
RefSeq Acc Id: ENST00000527397   ⟹   ENSP00000435195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,268,590 - 66,276,629 (+)Ensembl
RefSeq Acc Id: NM_030981   ⟹   NP_112243
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,268,639 - 66,277,492 (+)NCBI
GRCh371166,036,056 - 66,044,963 (+)ENTREZGENE
Build 361165,792,632 - 65,801,539 (+)NCBI Archive
HuRef1162,361,564 - 62,370,459 (+)ENTREZGENE
CHM1_11165,920,155 - 65,929,064 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018378   ⟹   XP_016873867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,268,526 - 66,277,492 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_112243   ⟸   NM_030981
- UniProtKB: Q9H0U4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016873867   ⟸   XM_017018378
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000310226   ⟸   ENST00000311481
RefSeq Acc Id: ENSP00000435195   ⟸   ENST00000527397

Promoters
RGD ID:6789288
Promoter ID:HG_KWN:13389
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_030981
Position:
Human AssemblyChrPosition (strand)Source
Build 361165,791,731 - 65,792,707 (+)MPROMDB
RGD ID:6810113
Promoter ID:HG_ACW:12734
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:RAB1B.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361165,798,961 - 65,799,461 (+)MPROMDB
RGD ID:7221127
Promoter ID:EPDNEW_H16310
Type:initiation region
Name:RAB1B_1
Description:RAB1B, member RAS oncogene family
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
GRCh381166,268,639 - 66,268,699EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3 copy number gain See cases [RCV000053623] Chr11:66193502..67890770 [GRCh38]
Chr11:65960973..67658241 [GRCh37]
Chr11:65717549..67414817 [NCBI36]
Chr11:11q13.2
pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1 copy number loss See cases [RCV000142881] Chr11:65741431..67705669 [GRCh38]
Chr11:65508902..67473140 [GRCh37]
Chr11:65265478..67229716 [NCBI36]
Chr11:11q13.1-13.2
pathogenic
GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3 copy number gain See cases [RCV000240374] Chr11:66024774..67430781 [GRCh37]
Chr11:11q13.2
uncertain significance
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3 copy number gain See cases [RCV000511632] Chr11:64501919..67129258 [GRCh37]
Chr11:11q13.1-13.2
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402) copy number gain not provided [RCV000767601] Chr11:65138976..67574402 [GRCh37]
Chr11:11q13.1-13.2
pathogenic
GRCh37/hg19 11q13.2(chr11:65906060-66086140)x1 copy number loss not provided [RCV000683313] Chr11:65906060..66086140 [GRCh37]
Chr11:11q13.2
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NC_000011.9:g.(?_65633902)_(66115026_?)dup duplication Autosomal recessive cutis laxa type 1B [RCV000798155] Chr11:65866431..66347555 [GRCh38]
Chr11:65633902..66115026 [GRCh37]
Chr11:11q13.1-13.2
uncertain significance
NC_000011.9:g.(?_65633902)_(66115026_?)dup duplication Autosomal recessive cutis laxa type 1B [RCV001305354] Chr11:65633902..66115026 [GRCh37]
Chr11:11q13.1-13.2
uncertain significance
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Epilepsy, familial temporal lobe, 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18370 AgrOrtholog
COSMIC RAB1B COSMIC
Ensembl Genes ENSG00000174903 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000310226 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435195 UniProtKB/TrEMBL
Ensembl Transcript ENST00000311481 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000527397 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000174903 GTEx
HGNC ID HGNC:18370 ENTREZGENE
Human Proteome Map RAB1B 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:81876 UniProtKB/Swiss-Prot
NCBI Gene 81876 ENTREZGENE
OMIM 612565 OMIM
Pfam Ras UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34108 PharmGKB
PROSITE RAB UniProtKB/Swiss-Prot
  RAS UniProtKB/TrEMBL
SMART RHO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs small_GTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PLD0_HUMAN UniProtKB/TrEMBL
  Q6FIG4_HUMAN UniProtKB/TrEMBL
  Q92927_HUMAN UniProtKB/TrEMBL
  Q9H0U4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K7S1 UniProtKB/Swiss-Prot