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Aliases for RAB12 Gene

Aliases for RAB12 Gene

  • RAB12, Member RAS Oncogene Family 2 3

External Ids for RAB12 Gene

Summaries for RAB12 Gene

GeneCards Summary for RAB12 Gene

RAB12 (RAB12, Member RAS Oncogene Family) is a Protein Coding gene. GO annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB37.

UniProtKB/Swiss-Prot for RAB12 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. That Rab may play a role in protein transport from recycling endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor. Involved in autophagy (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB12 Gene

Genomics for RAB12 Gene

Genomic Location for RAB12 Gene

Start:
8,609,445 bp from pter
End:
8,639,383 bp from pter
Size:
29,939 bases
Orientation:
Plus strand

Genomic View for RAB12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAB12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB12 Gene

Regulatory Elements for RAB12 Gene

Proteins for RAB12 Gene

  • Protein details for RAB12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IQ22-RAB12_HUMAN
    Recommended name:
    Ras-related protein Rab-12
    Protein Accession:
    Q6IQ22
    Secondary Accessions:
    • A6NEF5
    • Q4KMQ3

    Protein attributes for RAB12 Gene

    Size:
    244 amino acids
    Molecular mass:
    27248 Da
    Quaternary structure:
    • Interacts with RABIF and OPTN.
    SequenceCaution:
    • Sequence=AAH71600.2; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=AAH98407.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BC050338; Type=Frameshift; Positions=195; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAB12 Gene

neXtProt entry for RAB12 Gene

Proteomics data for RAB12 Gene at MOPED

Post-translational modifications for RAB12 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys172

Other Protein References for RAB12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB12 Gene

Domains for RAB12 Gene

Gene Families for RAB12 Gene

HGNC:
  • RAB :RAB, member RAS oncogene

Protein Domains for RAB12 Gene

Suggested Antigen Peptide Sequences for RAB12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6IQ22

UniProtKB/Swiss-Prot:

RAB12_HUMAN
Family:
  • Belongs to the small GTPase superfamily. Rab family.:
    • Q6IQ22
genes like me logo Genes that share domains with RAB12: view

Function for RAB12 Gene

Molecular function for RAB12 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) (By similarity). That Rab is activated by DENND3, a guanine exchange factor.
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. That Rab may play a role in protein transport from recycling endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor. Involved in autophagy (By similarity).

Gene Ontology (GO) - Molecular Function for RAB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IBA --
GO:0005525 GTP binding IEA --
GO:0019003 GDP binding IDA 20937701
genes like me logo Genes that share ontologies with RAB12: view

miRNA for RAB12 Gene

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for RAB12 Gene

Localization for RAB12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB12 Gene

Recycling endosome membrane; Lipid-anchor; Cytoplasmic side. Lysosome membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatus membrane. Cytoplasmic vesicle, autophagosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB12 Gene COMPARTMENTS Subcellular localization image for RAB12 gene
Compartment Confidence
endosome 5
lysosome 5
vacuole 5
cytosol 3
golgi apparatus 2
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RAB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005622 intracellular --
GO:0005634 nucleus --
GO:0005737 cytoplasm --
GO:0005764 lysosome ISS --
genes like me logo Genes that share ontologies with RAB12: view

Pathways for RAB12 Gene

SuperPathways for RAB12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RAB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006184 obsolete GTP catabolic process --
GO:0006886 intracellular protein transport IBA --
GO:0006904 vesicle docking involved in exocytosis IBA --
GO:0006913 nucleocytoplasmic transport --
GO:0006914 autophagy IEA --
genes like me logo Genes that share ontologies with RAB12: view

No data available for Pathways by source for RAB12 Gene

Transcripts for RAB12 Gene

mRNA/cDNA for RAB12 Gene

Unigene Clusters for RAB12 Gene

RAB12, member RAS oncogene family:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAB12 Gene

No ASD Table

Relevant External Links for RAB12 Gene

GeneLoc Exon Structure for
RAB12
ECgene alternative splicing isoforms for
RAB12

Expression for RAB12 Gene

mRNA expression in normal human tissues for RAB12 Gene

mRNA differential expression in normal tissues according to GTEx for RAB12 Gene

This gene is overexpressed in Muscle - Skeletal (5.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAB12 Gene

SOURCE GeneReport for Unigene cluster for RAB12 Gene Hs.270074

genes like me logo Genes that share expressions with RAB12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for RAB12 Gene

Orthologs for RAB12 Gene

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

Orthologs for RAB12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB12 35
  • 99.59 (n)
  • 100 (a)
RAB12 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB12 35
  • 91.39 (n)
  • 97.13 (a)
RAB12 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB12 35
  • 94.44 (n)
  • 100 (a)
RAB12 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab12 35
  • 89.3 (n)
  • 95.06 (a)
Rab12 16
Rab12 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB12 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab12 35
  • 89.03 (n)
  • 95.06 (a)
chicken
(Gallus gallus)
Aves RAB12 35
  • 87.02 (n)
  • 93.44 (a)
RAB12 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB12 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab12 35
  • 83.33 (n)
  • 95.09 (a)
Str.12902 35
zebrafish
(Danio rerio)
Actinopterygii Dr.15011 35
rab12 35
  • 75.23 (n)
  • 85.78 (a)
rab12 36
  • 85 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K02E10.1 36
  • 32 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT1 36
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToOne
Species with no ortholog for RAB12:
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • wheat (Triticum aestivum)

Evolution for RAB12 Gene

ENSEMBL:
Gene Tree for RAB12 (if available)
TreeFam:
Gene Tree for RAB12 (if available)

Paralogs for RAB12 Gene

Paralogs for RAB12 Gene

genes like me logo Genes that share paralogs with RAB12: view

Variants for RAB12 Gene

Sequence variations from dbSNP and Humsavar for RAB12 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs182680 -- 8,621,432(+) TAGAT(A/G)TGGTA intron-variant
rs321652 -- 8,627,162(+) GAGGC(A/G)CAGCC intron-variant
rs321653 -- 8,626,596(+) CATTG(G/T)ACACT intron-variant
rs321654 -- 8,625,644(+) AGCCC(A/G)CAGGT intron-variant
rs321655 -- 8,624,153(+) CTCTA(A/G)TTCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAB12 Gene

Variant ID Type Subtype PubMed ID
nsv2200 CNV Loss 18451855
esv2716756 CNV Deletion 23290073
esv5209 CNV Deletion 18987735
esv2716757 CNV Deletion 23290073
esv2656851 CNV Deletion 23128226
esv1001194 CNV Deletion 20482838

Relevant External Links for RAB12 Gene

HapMap Linkage Disequilibrium report
RAB12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB12 Gene

Disorders for RAB12 Gene

No disorders were found for RAB12 Gene.

No data available for UniProtKB/Swiss-Prot for RAB12 Gene

Publications for RAB12 Gene

  1. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PMID: 20937701) Yoshimura S. … Barr F.A. (J. Cell Biol. 2010) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis. (PMID: 20360680) Schlager M.A. … Hoogenraad C.C. (EMBO J. 2010) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PMID: 21139048) Danielsen J.M. … Nielsen M.L. (Mol. Cell Proteomics 2011) 3

Products for RAB12 Gene

Sources for RAB12 Gene

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