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Aliases for RAB1B Gene

Aliases for RAB1B Gene

  • RAB1B, Member RAS Oncogene Family 2 3 5

External Ids for RAB1B Gene

Previous GeneCards Identifiers for RAB1B Gene

  • GC11P068570
  • GC11P067717
  • GC11P066285
  • GC11P065811
  • GC11P065792
  • GC11P065777
  • GC11P066036
  • GC11P062361

Summaries for RAB1B Gene

Entrez Gene Summary for RAB1B Gene

  • Members of the RAB protein family, such as RAB1B, are low molecular mass monomeric GTPases localized on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB1B functions in the early secretory pathway and is essential for vesicle transport between the endoplasmic reticulum (ER) and Golgi (Chen et al., 1997 [PubMed 9030196]; Alvarez et al., 2003 [PubMed 12802079]).[supplied by OMIM, Jan 2009]

GeneCards Summary for RAB1B Gene

RAB1B (RAB1B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB1B include Hypotrichosis 3 and Warburg Micro Syndrome 4. Among its related pathways are Mitotic Prophase and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB1A.

UniProtKB/Swiss-Prot for RAB1B Gene

  • The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB1B regulates vesicular transport between the endoplasmic reticulum and successive Golgi compartments. Plays a role in the initial events of the autophagic vacuole development which take place at specialized regions of the endoplasmic reticulum.

Gene Wiki entry for RAB1B Gene

Additional gene information for RAB1B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB1B Gene

Genomics for RAB1B Gene

GeneHancer (GH) Regulatory Elements for RAB1B Gene

Promoters and enhancers for RAB1B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I066266 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 569.3 -0.3 -263 3.7 HDGF ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF143 SP3 RAB1B LOC105369351 KDM2A EIF1AD FRMD8 LOC105369352 OVOL1-AS1 KLC2 CTSW ENSG00000245156
GH11I065470 Promoter/Enhancer 2.9 VISTA FANTOM5 Ensembl ENCODE dbSUPER 35.7 -778.4 -778449 40 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 LOC105369346 SF1 PCNX3 POLA2 ZFPL1 EIF1AD SART1 MUS81 LOC105369352 KAT5
GH11I065851 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 26.1 -411.0 -411049 12.2 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 MUS81 CFL1 EIF1AD POLA2 PCNX3 SART1 ENSG00000258297 ZFPL1 RBM14 RBM4
GH11I065414 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE dbSUPER 21.8 -844.4 -844352 18.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 NEAT1 ENSG00000277599 ENSG00000278050 ENSG00000278144 GC11P065529 SF1 ZFPL1 EIF1AD POLA2 PCNX3
GH11I066287 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.6 +20.4 20414 3 HDGF PKNOX1 CLOCK SMAD1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 YIF1A LOC105369352 EIF1AD RAB1B RBM14 SSSCA1 KDM2A SCYL1 RBM4 MRPL11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RAB1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAB1B gene promoter:

Genomic Locations for RAB1B Gene

Genomic Locations for RAB1B Gene
chr11:66,268,533-66,277,492
(GRCh38/hg38)
Size:
8,960 bases
Orientation:
Plus strand
chr11:66,036,004-66,044,963
(GRCh37/hg19)

Genomic View for RAB1B Gene

Genes around RAB1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB1B Gene

Proteins for RAB1B Gene

  • Protein details for RAB1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0U4-RAB1B_HUMAN
    Recommended name:
    Ras-related protein Rab-1B
    Protein Accession:
    Q9H0U4
    Secondary Accessions:
    • A8K7S1

    Protein attributes for RAB1B Gene

    Size:
    201 amino acids
    Molecular mass:
    22171 Da
    Quaternary structure:
    • Interacts with MICAL1 and MICAL2. Interacts (GTP-bound form) with MICALCL, MICAL1 and MILCAL3. Interacts with GDI1; the interaction requires the GDP-bound state. Interacts with CHM/REP1; the interaction requires the GDP-bound form and is necessary for prenylation by GGTase II.
    Miscellaneous:
    • Rab-1B binds GTP and GDP and possesses low intrinsic GTPase activity.

    Three dimensional structures from OCA and Proteopedia for RAB1B Gene

neXtProt entry for RAB1B Gene

Post-translational modifications for RAB1B Gene

  • AMPylation at Tyr-77 by L.pneumophila DrrA occurs in the switch 2 region and leads to moderate inactivation of the GTPase activity. It appears to prolong the lifetime of the GTP state of RAB1B by restricting access of GTPase effectors to switch 2 and blocking effector-stimulated GTP hydrolysis, thereby rendering RAB1B constitutively active. It is later de-AMPylated by L.pneumophila SidD, releasing RAB1B from bacterial phagosomes.
  • Phosphocholinated at Ser-76 by L.pneumophila AnkX, leading to displace GDP dissociation inhibitors (GDI). Both GDP-bound and GTP-bound forms can be phosphocholinated. Dephosphocholinated by L.pneumophila Lem3, restoring accessibility to L.pneumophila GTPase effector LepB.
  • Prenylated; by GGTase II, only after interaction of the substrate with Rab escort protein 1 (REP1).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB1B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB1B Gene

Domains & Families for RAB1B Gene

Gene Families for RAB1B Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RAB1B Gene

Suggested Antigen Peptide Sequences for RAB1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H0U4

UniProtKB/Swiss-Prot:

RAB1B_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB1B: view

Function for RAB1B Gene

Molecular function for RAB1B Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Rab activation is generally mediated by a guanine exchange factor (GEF), while inactivation through hydrolysis of bound GTP is catalyzed by a GTPase activating protein (GAP).
UniProtKB/Swiss-Prot Function:
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB1B regulates vesicular transport between the endoplasmic reticulum and successive Golgi compartments. Plays a role in the initial events of the autophagic vacuole development which take place at specialized regions of the endoplasmic reticulum.

Phenotypes From GWAS Catalog for RAB1B Gene

Gene Ontology (GO) - Molecular Function for RAB1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 15796781
GO:0005525 GTP binding IEA,IDA 20937701
genes like me logo Genes that share ontologies with RAB1B: view
genes like me logo Genes that share phenotypes with RAB1B: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RAB1B

CRISPR Products

miRNA for RAB1B Gene

miRTarBase miRNAs that target RAB1B

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB1B Gene

Localization for RAB1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB1B Gene

Cytoplasm. Membrane; Lipid-anchor; Cytoplasmic side. Preautophagosomal structure membrane; Lipid-anchor; Cytoplasmic side. Note=Targeted by REP1 to membranes of specific subcellular compartments including endoplasmic reticulum, Golgi apparatus, and intermediate vesicles between these two compartments. In the GDP-form, colocalizes with GDI in the cytoplasm (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB1B gene
Compartment Confidence
extracellular 5
cytosol 5
golgi apparatus 5
endoplasmic reticulum 4
mitochondrion 3
nucleus 2
plasma membrane 1
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005789 endoplasmic reticulum membrane TAS,IBA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA --
genes like me logo Genes that share ontologies with RAB1B: view

Pathways & Interactions for RAB1B Gene

genes like me logo Genes that share pathways with RAB1B: view

Pathways by source for RAB1B Gene

Gene Ontology (GO) - Biological Process for RAB1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0006914 autophagy IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with RAB1B: view

No data available for SIGNOR curated interactions for RAB1B Gene

Drugs & Compounds for RAB1B Gene

(1) Drugs for RAB1B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for RAB1B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAB1B: view

Transcripts for RAB1B Gene

mRNA/cDNA for RAB1B Gene

Unigene Clusters for RAB1B Gene

RAB1B, member RAS oncogene family:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB1B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: -

Relevant External Links for RAB1B Gene

GeneLoc Exon Structure for
RAB1B
ECgene alternative splicing isoforms for
RAB1B

Expression for RAB1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAB1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAB1B Gene

This gene is overexpressed in Oral epithelium (7.6) and Nasal epithelium (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAB1B Gene



Protein tissue co-expression partners for RAB1B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAB1B Gene:

RAB1B

SOURCE GeneReport for Unigene cluster for RAB1B Gene:

Hs.300816

Evidence on tissue expression from TISSUES for RAB1B Gene

  • Nervous system(4.8)
  • Pancreas(4.5)
  • Lung(2.8)
  • Skin(2.8)
  • Kidney(2.5)
  • Muscle(2.5)
genes like me logo Genes that share expression patterns with RAB1B: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB1B Gene

Orthologs for RAB1B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB1B 33 34
  • 99.83 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 99 (a)
OneToMany
RAB1B 33
  • 93.7 (n)
-- 34
  • 85 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia RAB1B 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB1B 33 34
  • 94.36 (n)
mouse
(Mus musculus)
Mammalia Rab1b 33 16 34
  • 91.21 (n)
rat
(Rattus norvegicus)
Mammalia LOC102555167 33
  • 90.38 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 75 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii rab1bb 34
  • 92 (a)
OneToMany
rab1ba 33 34
  • 80.93 (n)
zgc56049 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2074 33
fruit fly
(Drosophila melanogaster)
Insecta Rab1 35 34
  • 83 (a)
Rab-RP3 35
  • 50 (a)
CG2885 35
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea rab-1 35 34
  • 79 (a)
K02E10.1 35
  • 40 (a)
C33D12.6 35
  • 38 (a)
4R79.2 35
  • 37 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT1 34
  • 68 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.3870 33
rice
(Oryza sativa)
Liliopsida Os.7869 33
wheat
(Triticum aestivum)
Liliopsida Ta.2042 33
corn
(Zea mays)
Liliopsida Zm.5901 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10592 34
  • 86 (a)
OneToMany
Species where no ortholog for RAB1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)

Evolution for RAB1B Gene

ENSEMBL:
Gene Tree for RAB1B (if available)
TreeFam:
Gene Tree for RAB1B (if available)

Paralogs for RAB1B Gene

genes like me logo Genes that share paralogs with RAB1B: view

Variants for RAB1B Gene

Sequence variations from dbSNP and Humsavar for RAB1B Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000191800 -- 66,271,613(+) A/G intron_variant
rs1000302602 -- 66,273,055(+) G/A intron_variant
rs1000423122 -- 66,267,715(+) T/C upstream_transcript_variant
rs1000529268 -- 66,273,167(+) C/T intron_variant
rs1000628682 -- 66,271,383(+) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RAB1B Gene

Variant ID Type Subtype PubMed ID
nsv555223 CNV loss 21841781
nsv825955 CNV gain 20364138

Variation tolerance for RAB1B Gene

Residual Variation Intolerance Score: 54.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.28; 6.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB1B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB1B Gene

Disorders for RAB1B Gene

MalaCards: The human disease database

(2) MalaCards diseases for RAB1B Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypotrichosis 3
  • hypt3
warburg micro syndrome 4
  • warbm4
- elite association - COSMIC cancer census association via MalaCards
Search RAB1B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB1B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAB1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB1B Gene

Publications for RAB1B Gene

  1. The putative "switch 2" domain of the Ras-related GTPase, Rab1B, plays an essential role in the interaction with Rab escort protein. (PMID: 9437002) Overmeyer JH … Maltese WA (Molecular biology of the cell 1998) 3 4 22 58
  2. Prenylation of a Rab1B mutant with altered GTPase activity is impaired in cell-free systems but not in intact mammalian cells. (PMID: 8836150) Wilson AL … Maltese WA (The Biochemical journal 1996) 3 4 22 58
  3. Catalytic mechanism of a mammalian Rab·RabGAP complex in atomic detail. (PMID: 23236136) Gavriljuk K … Gerwert K (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4 58
  4. Autophagosome formation depends on the small GTPase Rab1 and functional ER exit sites. (PMID: 20545908) Zoppino FC … Colombo MI (Traffic (Copenhagen, Denmark) 2010) 3 4 58
  5. The MICAL proteins and rab1: a possible link to the cytoskeleton? (PMID: 15694364) Fischer J … Barnekow A (Biochemical and biophysical research communications 2005) 3 4 58

Products for RAB1B Gene