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Aliases for RAB31 Gene

Aliases for RAB31 Gene

  • RAB31, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-22B 3 4
  • Rab22B 3 4
  • Ras-Related Protein Rab-31 3

External Ids for RAB31 Gene

Previous GeneCards Identifiers for RAB31 Gene

  • GC18P009925
  • GC18P009764
  • GC18P009699
  • GC18P009700

Summaries for RAB31 Gene

Entrez Gene Summary for RAB31 Gene

  • Small GTP-binding proteins of the RAB family, such as RAB31, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Jul 2009]

GeneCards Summary for RAB31 Gene

RAB31 (RAB31, Member RAS Oncogene Family) is a Protein Coding gene. Among its related pathways are RAB geranylgeranylation and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB22A.

UniProtKB/Swiss-Prot for RAB31 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. Required for the integrity and for normal function of the Golgi apparatus and the trans-Golgi network. Plays a role in insulin-stimulated translocation of GLUT4 to the cell membrane. Plays a role in M6PR transport from the trans-Golgi network to endosomes. Plays a role in the internalization of EGFR from the cell membrane into endosomes. Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis.

Gene Wiki entry for RAB31 Gene

Additional gene information for RAB31 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB31 Gene

Genomics for RAB31 Gene

Regulatory Elements for RAB31 Gene

Enhancers for RAB31 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18H009704 1.7 FANTOM5 ENCODE dbSUPER 28.4 +0.4 440 8 PKNOX1 ARNT FEZF1 ZNF302 FOS SP3 JUNB REST SMARCB1 ZNF592 RAB31 ANKRD12 VAPA PPP4R1 LOC105371981
GH18H009735 1.9 FANTOM5 Ensembl ENCODE dbSUPER 23.4 +32.3 32292 8 HDGF HNRNPUL1 PKNOX1 FOXA2 FEZF1 YY1 ZNF766 FOS DEK REST PPP4R1 RAB31 ENSG00000263847 TXNDC2 RNU6-903P VAPA ENSG00000266891 GC18M009550
GH18H009823 2 FANTOM5 Ensembl ENCODE dbSUPER 18.4 +118.3 118269 6 HDGF PKNOX1 ARNT YBX1 ZNF766 ZNF207 FOS REST SMARCB1 KAT8 ANKRD12 VAPA PPP4R1 RAB31 TXNDC2 RALBP1 RN7SL862P ZNF415P1
GH18H009755 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.2 +49.3 49291 4 HDGF PKNOX1 ARNT CBX5 GATA2 ELK1 FOS REST ZNF592 PBX2 RAB31 TXNDC2 VAPA PPP4R1 GC18M009550 ENSG00000266891
GH18H009848 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.6 +141.7 141655 2 HDGF PKNOX1 ATF1 ARNT ATF7 NCOA1 REST ZNF592 SMARCA4 MYNN RAB31 VAPA TXNDC2 PPP4R1 RNA5SP449 PIGPP4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAB31 on UCSC Golden Path with GeneCards custom track

Promoters for RAB31 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000100583 535 2201 ATF1 ARNT FEZF1 GLIS2 ATF7 REST SMARCB1 ZNF592 SMARCA4 GLIS1

Genomic Location for RAB31 Gene

Chromosome:
18
Start:
9,708,165 bp from pter
End:
9,862,556 bp from pter
Size:
154,392 bases
Orientation:
Plus strand

Genomic View for RAB31 Gene

Genes around RAB31 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB31 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB31 Gene

Proteins for RAB31 Gene

  • Protein details for RAB31 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13636-RAB31_HUMAN
    Recommended name:
    Ras-related protein Rab-31
    Protein Accession:
    Q13636
    Secondary Accessions:
    • B2RBT7
    • Q15770
    • Q9HC00

    Protein attributes for RAB31 Gene

    Size:
    194 amino acids
    Molecular mass:
    21569 Da
    Quaternary structure:
    • Interacts with OCRL. Interacts with NGFR (By similarity). Interacts (in GDP-bound form) with RIN3 and GAPVD1, which function as guanine exchange factors (GEF). Interacts (in GTP-bound form) with EEA1. Interacts with EGFR.
    SequenceCaution:
    • Sequence=AAG09690.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH01148.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAB31 Gene

neXtProt entry for RAB31 Gene

Post-translational modifications for RAB31 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB31 Gene

No data available for DME Specific Peptides for RAB31 Gene

Domains & Families for RAB31 Gene

Gene Families for RAB31 Gene

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

Protein Domains for RAB31 Gene

Suggested Antigen Peptide Sequences for RAB31 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13636

UniProtKB/Swiss-Prot:

RAB31_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 RAB31: view

Function for RAB31 Gene

Molecular function for RAB31 Gene

GENATLAS Biochemistry:
RAB31,RAS oncogene superfamily member,predominantly expressed in melanocytes
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. Required for the integrity and for normal function of the Golgi apparatus and the trans-Golgi network. Plays a role in insulin-stimulated translocation of GLUT4 to the cell membrane. Plays a role in M6PR transport from the trans-Golgi network to endosomes. Plays a role in the internalization of EGFR from the cell membrane into endosomes. Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis.

Phenotypes From GWAS Catalog for RAB31 Gene

Gene Ontology (GO) - Molecular Function for RAB31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005525 GTP binding IEA,IDA 17189207
GO:0019003 GDP binding IDA 17189207
genes like me logo Genes that share ontologies with RAB31: view
genes like me logo Genes that share phenotypes with RAB31: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RAB31
  • Applied Biological Materials Clones for RAB31
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB31 Gene

Localization for RAB31 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB31 Gene

Golgi apparatus, trans-Golgi network. Golgi apparatus, trans-Golgi network membrane; Lipid-anchor; Cytoplasmic side. Early endosome. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane; Lipid-anchor; Cytoplasmic side. Note=Rapidly recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211). {ECO:0000269 PubMed:21255211}.

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 RAB31 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
endosome 5
plasma membrane 4
extracellular 1
mitochondrion 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RAB31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA,IEA 17189207
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with RAB31: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB31 Gene

Pathways & Interactions for RAB31 Gene

genes like me logo Genes that share pathways with RAB31: view

Pathways by source for RAB31 Gene

1 Qiagen pathway for RAB31 Gene

Interacting Proteins for RAB31 Gene

Gene Ontology (GO) - Biological Process for RAB31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031623 receptor internalization IMP 19725050
GO:0032869 cellular response to insulin stimulus IMP 17189207
GO:0043001 Golgi to plasma membrane protein transport IMP 17678623
GO:0043312 neutrophil degranulation TAS --
GO:0045055 regulated exocytosis IMP 17189207
genes like me logo Genes that share ontologies with RAB31: view

No data available for SIGNOR curated interactions for RAB31 Gene

Drugs & Compounds for RAB31 Gene

No Compound Related Data Available

Transcripts for RAB31 Gene

Unigene Clusters for RAB31 Gene

RAB31, member RAS oncogene family:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RAB31
  • Applied Biological Materials Clones for RAB31
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RAB31 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1: - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for RAB31 Gene

GeneLoc Exon Structure for
RAB31
ECgene alternative splicing isoforms for
RAB31

Expression for RAB31 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAB31 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAB31 Gene

This gene is overexpressed in Bone (8.4), Peripheral blood mononuclear cells (8.0), and Tlymphocyte (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB31 Gene



NURSA nuclear receptor signaling pathways regulating expression of RAB31 Gene:

RAB31

SOURCE GeneReport for Unigene cluster for RAB31 Gene:

Hs.744887

mRNA Expression by UniProt/SwissProt for RAB31 Gene:

Q13636-RAB31_HUMAN
Tissue specificity: Highest expression in placenta and brain with lower levels in heart and lung. Not detected in liver, skeletal muscle, kidney or pancreas.

Evidence on tissue expression from TISSUES for RAB31 Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Blood(4.3)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with RAB31: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB31 Gene

Orthologs for RAB31 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAB31 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB31 33 34
  • 100 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAB31 34
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB31 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB31 33 34
  • 91.97 (n)
mouse
(Mus musculus)
Mammalia Rab31 33 16 34
  • 88.38 (n)
rat
(Rattus norvegicus)
Mammalia Rab31 33
  • 88.03 (n)
cow
(Bos Taurus)
Mammalia RAB31 33 34
  • 87.86 (n)
chicken
(Gallus gallus)
Aves RAB31 33 34
  • 83.15 (n)
lizard
(Anolis carolinensis)
Reptilia RAB31 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab31 33
  • 76.12 (n)
zebrafish
(Danio rerio)
Actinopterygii RAB31 34
  • 81 (a)
OneToOne
LOC568800 33
  • 72.34 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS21 34
  • 41 (a)
ManyToMany
YPT53 34
  • 37 (a)
ManyToMany
Species where no ortholog for RAB31 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RAB31 Gene

ENSEMBL:
Gene Tree for RAB31 (if available)
TreeFam:
Gene Tree for RAB31 (if available)

Paralogs for RAB31 Gene

Pseudogenes.org Pseudogenes for RAB31 Gene

genes like me logo Genes that share paralogs with RAB31: view

Variants for RAB31 Gene

Sequence variations from dbSNP and Humsavar for RAB31 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1000029546 -- 9,775,061(+) ACTGA(C/T)TTTTA intron-variant
rs1000054166 -- 9,855,383(+) CACAT(C/T)TTGTA intron-variant
rs1000080686 -- 9,813,073(+) ATGTA(C/T)GCATT intron-variant
rs1000093665 -- 9,839,730(+) AGAGA(A/G)AGGGT intron-variant
rs1000104506 -- 9,843,790(+) CATAT(G/T)TCTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAB31 Gene

Variant ID Type Subtype PubMed ID
dgv1849e59 CNV tandem duplication 20981092
dgv5849n54 CNV loss 21841781
esv25767 CNV loss 19812545
esv2661546 CNV deletion 23128226
esv2716771 CNV deletion 23290073
esv2716772 CNV deletion 23290073
esv2716774 CNV deletion 23290073
esv2716775 CNV deletion 23290073
esv2758712 CNV loss 17122850
esv2761989 CNV loss 21179565
esv3358110 CNV duplication 20981092
esv3393081 CNV duplication 20981092
esv3555040 CNV deletion 23714750
esv3641752 CNV gain 21293372
esv3641754 CNV loss 21293372
esv5001 CNV loss 18987735
esv999723 CNV insertion 20482838
nsv1064807 CNV gain 25217958
nsv1131355 CNV deletion 24896259
nsv458024 CNV gain 19166990
nsv469897 CNV loss 16826518
nsv507860 OTHER sequence alteration 20534489
nsv576448 CNV gain 21841781
nsv576450 CNV loss 21841781
nsv817783 CNV loss 17921354
nsv820745 CNV deletion 20802225
nsv828177 CNV loss 20364138
nsv833586 CNV loss 17160897
nsv9606 CNV loss 18304495
nsv9607 CNV loss 18304495

Variation tolerance for RAB31 Gene

Residual Variation Intolerance Score: 55.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB31 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB31

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB31 Gene

Disorders for RAB31 Gene

Relevant External Links for RAB31

Genetic Association Database (GAD)
RAB31
Human Genome Epidemiology (HuGE) Navigator
RAB31
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB31
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB31

No disorders were found for RAB31 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAB31 Gene

Publications for RAB31 Gene

  1. Molecular cloning of two novel rab genes from human melanocytes. (PMID: 8863739) Chen D … Gahl WA (Gene 1996) 2 3 4 60
  2. Characterization of RIN3 as a guanine nucleotide exchange factor for the Rab5 subfamily GTPase Rab31. (PMID: 21586568) Kajiho H … Katada T (The Journal of biological chemistry 2011) 3 4 60
  3. Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PMID: 21255211) Seto S … Koide Y (Traffic (Copenhagen, Denmark) 2011) 3 4 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. Rab22B is expressed in the CNS astroglia lineage and plays a role in epidermal growth factor receptor trafficking in A431 cells. (PMID: 19725050) Ng EL … Tang BL (Journal of cellular physiology 2009) 3 4 60

Products for RAB31 Gene

  • Addgene plasmids for RAB31

Sources for RAB31 Gene

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