The protein encoded by this gene anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015] See more...

Aliases for RAB32 Gene

Aliases for RAB32 Gene

  • RAB32, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-32 3 4
  • RAB32 5

External Ids for RAB32 Gene

Previous GeneCards Identifiers for RAB32 Gene

  • GC06P146487
  • GC06P146711
  • GC06P146845
  • GC06P146906
  • GC06P144428

Summaries for RAB32 Gene

Entrez Gene Summary for RAB32 Gene

  • The protein encoded by this gene anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015]

GeneCards Summary for RAB32 Gene

RAB32 (RAB32, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB32 include Hermansky-Pudlak Syndrome and Warburg Micro Syndrome. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is RAB38.

UniProtKB/Swiss-Prot Summary for RAB32 Gene

  • Acts as an A-kinase anchoring protein by binding to the type II regulatory subunit of protein kinase A and anchoring it to the mitochondrion. Also involved in synchronization of mitochondrial fission (PubMed:12186851). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays an important role in the control of melanin production and melanosome biogenesis (PubMed:23084991). In concert with RAB38, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB32 Gene

Genomics for RAB32 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB32 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
GH06J146542 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 253.8 +1.5 1452 5 JUND ZNF592 ATF2 CEBPA BRCA1 POLR2A ZIC2 YY1 MXD4 NONO RAB32 SHPRH ADGB LOC101928661 HSALNG0054141
GH06J146700 Enhancer 0.9 Ensembl ENCODE 11.2 +156.4 156383 0.5 ZNF654 NFIC CTCF REST TRIM22 HOMEZ THAP11 RAD21 SMC3 ZSCAN9 RAB32 LOC101928661 ADGB piR-31508-049 HSALNG0054143 RF00017-5317 STXBP5
GH06J146912 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 2.8 +371.2 371158 5 NCOR1 IKZF1 MYC ZNF600 JUND ZNF592 ATF2 NFIC POLR2A REST STXBP5-AS1 SHPRH ADGB STXBP5 RAB32 HSALNG0054153 lnc-ADGB-4 ENSG00000272397 RF00017-5318
GH06J146567 Enhancer 0.5 Ensembl 12 +24.4 24368 1.2 GABPA NFE2 ZNF146 SPI1 MAFG MEIS2 CBFA2T3 RAB32 ADGB LOC101928661 HSALNG0054141 HSALNG0054140
GH06J146581 Enhancer 0.5 Ensembl 11.4 +39.1 39068 3.8 NFIC CEBPB SPI1 POLR2A ATF4 NFIB CEBPG RAB32 ADGB HSALNG0054141 HSALNG0054140 LOC101928661
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB32 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB32

Top Transcription factor binding sites by QIAGEN in the RAB32 gene promoter:
  • AML1a
  • C/EBPalpha
  • C/EBPbeta
  • Evi-1
  • GATA-1
  • LCR-F1
  • Pax-2
  • Pax-2a
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for RAB32 Gene

Latest Assembly
chr6:146,543,833-146,554,953
(GRCh38/hg38)
Size:
11,121 bases
Orientation:
Plus strand

Previous Assembly
chr6:146,864,969-146,876,089
(GRCh37/hg19 by Entrez Gene)
Size:
11,121 bases
Orientation:
Plus strand

chr6:146,864,829-146,876,101
(GRCh37/hg19 by Ensembl)
Size:
11,273 bases
Orientation:
Plus strand

Genomic View for RAB32 Gene

Genes around RAB32 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB32 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB32 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB32 Gene

Proteins for RAB32 Gene

  • Protein details for RAB32 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13637-RAB32_HUMAN
    Recommended name:
    Ras-related protein Rab-32
    Protein Accession:
    Q13637

    Protein attributes for RAB32 Gene

    Size:
    225 amino acids
    Molecular mass:
    24997 Da
    Quaternary structure:
    • Interacts with ANKRD27 (PubMed:24856514, PubMed:21269460). A decreased interaction with ANKRD27 seen in the presence of SGSM2 (PubMed:21269460).

    Three dimensional structures from OCA and Proteopedia for RAB32 Gene

neXtProt entry for RAB32 Gene

Post-translational modifications for RAB32 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB32 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for RAB32
  • Boster Bio Antibodies for RAB32

No data available for DME Specific Peptides for RAB32 Gene

Domains & Families for RAB32 Gene

Gene Families for RAB32 Gene

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

Protein Domains for RAB32 Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature

Suggested Antigen Peptide Sequences for RAB32 Gene

GenScript: Design optimal peptide antigens:
  • Ras-related protein Rab-32 (RAB32_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13637

UniProtKB/Swiss-Prot:

RAB32_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 RAB32: view

Function for RAB32 Gene

Molecular function for RAB32 Gene

UniProtKB/Swiss-Prot Function:
Acts as an A-kinase anchoring protein by binding to the type II regulatory subunit of protein kinase A and anchoring it to the mitochondrion. Also involved in synchronization of mitochondrial fission (PubMed:12186851). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays an important role in the control of melanin production and melanosome biogenesis (PubMed:23084991). In concert with RAB38, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by a guanine nucleotide-exchange factor (GEF) and a GTPase-activating protein (GAP) and alternates between an inactive GDP-bound and an active GTP-bound form. The BLOC-3 complex composed of HPS1 and HPS4 acts as its GEF, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form (By similarity). SGSM2 acts as its GAP and inactivates it by stimulating its GTPase activity (PubMed:21269460).

Phenotypes From GWAS Catalog for RAB32 Gene

Gene Ontology (GO) - Molecular Function for RAB32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IBA,IDA 21808068
GO:0005515 protein binding IPI 21808068
GO:0005525 GTP binding NAS 22511774
GO:0030742 GTP-dependent protein binding IPI 22511774
genes like me logo Genes that share ontologies with RAB32: view
genes like me logo Genes that share phenotypes with RAB32: view

Animal Models for RAB32 Gene

MGI Knock Outs for RAB32:
  • Rab32 Rab32<tm1b(KOMP)Wtsi>

miRNA for RAB32 Gene

miRTarBase miRNAs that target RAB32

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB32

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB32 Gene

Localization for RAB32 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB32 Gene

Mitochondrion. Mitochondrion outer membrane. Lipid-anchor. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane. Lipid-anchor. Cytoplasmic side. Melanosome. Melanosome membrane. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211). The BLOC-3 complex, a heterodimer of HPS1 and HPS4 promotes its membrane localization (PubMed:23084991). {ECO:0000269 PubMed:21255211, ECO:0000269 PubMed:23084991}.

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 RAB32 gene
Compartment Confidence
mitochondrion 5
cytosol 5
endoplasmic reticulum 4
endosome 4
golgi apparatus 4
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAB32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 25767741
GO:0005741 mitochondrial outer membrane IEA,IDA 23084991
GO:0005769 early endosome IDA 22511774
GO:0005783 endoplasmic reticulum IDA 25767741
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with RAB32: view

Pathways & Interactions for RAB32 Gene

genes like me logo Genes that share pathways with RAB32: view

Pathways by source for RAB32 Gene

1 Qiagen pathway for RAB32 Gene
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for RAB32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0007005 mitochondrion organization IMP 25767741
GO:0016192 vesicle-mediated transport IEA --
GO:0019882 antigen processing and presentation IMP 19717423
GO:0032438 melanosome organization IBA 21873635
genes like me logo Genes that share ontologies with RAB32: view

No data available for SIGNOR curated interactions for RAB32 Gene

Drugs & Compounds for RAB32 Gene

No Compound Related Data Available

Transcripts for RAB32 Gene

mRNA/cDNA for RAB32 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB32

Alternative Splicing Database (ASD) splice patterns (SP) for RAB32 Gene

No ASD Table

Relevant External Links for RAB32 Gene

GeneLoc Exon Structure for
RAB32

Expression for RAB32 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB32 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB32 Gene

This gene is overexpressed in Whole Blood (x11.7).

Protein differential expression in normal tissues from HIPED for RAB32 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.4) and Platelet (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB32 Gene



Protein tissue co-expression partners for RAB32 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB32

SOURCE GeneReport for Unigene cluster for RAB32 Gene:

Hs.287714

mRNA Expression by UniProt/SwissProt for RAB32 Gene:

Q13637-RAB32_HUMAN
Tissue specificity: Widely expressed with high levels in heart, liver, kidney, bone marrow, testis, colon and fetal lung.

Evidence on tissue expression from TISSUES for RAB32 Gene

  • Nervous system(4.5)
  • Blood(4.4)
  • Skin(2.5)
  • Bone marrow(2.2)
  • Liver(2.1)
  • Spleen(2.1)
  • Intestine(2.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with RAB32: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB32 Gene

Orthologs for RAB32 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB32 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB32 29 30
  • 99.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB32 29 30
  • 89.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB32 29 30
  • 89.63 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab32 29 16 30
  • 86.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab32 29
  • 86.08 (n)
Oppossum
(Monodelphis domestica)
Mammalia RAB32 30
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB32 30
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RAB32 29 30
  • 82.2 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB32 30
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab32 29
  • 76.38 (n)
Str.20254 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.25385 29
Zebrafish
(Danio rerio)
Actinopterygii rab32a 29 30
  • 73.46 (n)
OneToMany
rab32b 30
  • 47 (a)
OneToMany
rab32 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007654 29
  • 70.97 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rab-RP1 31
  • 67 (a)
ltd 29 30
  • 65.37 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea glo-1 29 30
  • 55.56 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 65 (a)
OneToOne
Species where no ortholog for RAB32 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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 RAB32 Gene

ENSEMBL:
Gene Tree for RAB32 (if available)
TreeFam:
Gene Tree for RAB32 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB32: view image
Alliance of Genome Resources:
Additional Orthologs for RAB32

Paralogs for RAB32 Gene

genes like me logo Genes that share paralogs with RAB32: view

Variants for RAB32 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB32 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RAB32 Gene

Variant ID Type Subtype PubMed ID
esv2675425 CNV deletion 23128226
esv3540596 CNV deletion 23714750
esv3611155 CNV loss 21293372

Variation tolerance for RAB32 Gene

Residual Variation Intolerance Score: 31.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB32 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB32
Leiden Open Variation Database (LOVD)
RAB32

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB32 Gene

Disorders for RAB32 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RAB32 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
warburg micro syndrome
  • micro syndrome
piebald trait
  • pbt
carpenter syndrome 1
  • crpt1
neuropathy, congenital hypomyelinating, 1, autosomal recessive
  • chn1
- elite association - COSMIC cancer census association via MalaCards
Search RAB32 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB32

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RAB32: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB32 Gene

Publications for RAB32 Gene

  1. BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. (PMID: 23084991) Gerondopoulos A … Barr FA (Current biology : CB 2012) 3 4
  2. RUTBC1 protein, a Rab9A effector that activates GTP hydrolysis by Rab32 and Rab33B proteins. (PMID: 21808068) Nottingham RM … Pfeffer SR (The Journal of biological chemistry 2011) 3 4
  3. Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PMID: 21255211) Seto S … Koide Y (Traffic (Copenhagen, Denmark) 2011) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for RAB32 Gene

Sources for RAB32 Gene