Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RAB38 Gene

Aliases for RAB38 Gene

  • RAB38, Member RAS Oncogene Family 2 3 5
  • Melanoma Antigen NY-MEL-1 3 4
  • Rab-Related GTP-Binding Protein 3
  • Ras-Related Protein Rab-38 3
  • NY-MEL-1 3
  • RrGTPbp 3

External Ids for RAB38 Gene

Previous GeneCards Identifiers for RAB38 Gene

  • GC11M090169
  • GC11M089393
  • GC11M088030
  • GC11M087534
  • GC11M087486
  • GC11M087846
  • GC11M084086

Summaries for RAB38 Gene

GeneCards Summary for RAB38 Gene

RAB38 (RAB38, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB38 include Pancreatitis, Hereditary and Hermansky-Pudlak Syndrome 5. Among its related pathways are Vesicle-mediated transport and Metabolism of proteins. GO annotations related to this gene include GTP binding and protein complex binding. An important paralog of this gene is RAB32.

UniProtKB/Swiss-Prot for RAB38 Gene

  • May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with ANKRD27 and VAMP7 (By similarity). 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 RAB32, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity).

Gene Wiki entry for RAB38 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB38 Gene

Genomics for RAB38 Gene

Regulatory Elements for RAB38 Gene

Enhancers for RAB38 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
GH11F088171 1.2 FANTOM5 ENCODE 13.3 +1.3 1316 4.4 ZNF76 ZNF2 GLIS2 EGR1 SCRT2 CREM ZNF263 ZEB2 ZNF341 IKZF1 RAB38 ENSG00000279733
GH11F088178 1 Ensembl ENCODE 15.3 -4.3 -4316 2.2 MTA2 CBFB CEBPB JUNB BMI1 EBF1 TBX21 EP300 RELA JUND RAB38 ENSG00000206690 ENSG00000255102 ENSG00000255241 PIR47502 GC11M088197
GH11F088150 0.7 FANTOM5 ENCODE 13.4 +23.0 22993 3.5 RAD51 RAB38 ENSG00000206690 ENSG00000255102 ENSG00000255241 GRM5-AS1 CTSC GC11P088152 ENSG00000279733
GH11F088102 1 Ensembl ENCODE 5.8 +71.9 71865 3.1 CTCF WRNIP1 MAX ZNF384 RAD21 ZNF143 SMC3 ZNF600 MAZ ZNF362 RAB38 ENSG00000206690 GC11M088128
GH11F088138 0.3 FANTOM5 18.2 +36.9 36888 0.1 RAB38 GC11M088128 ENSG00000206690
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAB38 on UCSC Golden Path with GeneCards custom track

Promoters for RAB38 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001572209 267 1601 HINFP ZNF76 MAX EBF1 ZNF2 POLR2A EGR1 PATZ1 SCRT2 ZNF547

Genomic Location for RAB38 Gene

Chromosome:
11
Start:
88,113,242 bp from pter
End:
88,175,467 bp from pter
Size:
62,226 bases
Orientation:
Minus strand

Genomic View for RAB38 Gene

Genes around RAB38 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB38 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB38 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB38 Gene

Proteins for RAB38 Gene

  • Protein details for RAB38 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57729-RAB38_HUMAN
    Recommended name:
    Ras-related protein Rab-38
    Protein Accession:
    P57729
    Secondary Accessions:
    • Q53XK7

    Protein attributes for RAB38 Gene

    Size:
    211 amino acids
    Molecular mass:
    23712 Da
    Quaternary structure:
    • Interacts with ANKRD27 (PubMed:19403694).

neXtProt entry for RAB38 Gene

Post-translational modifications for RAB38 Gene

  • Although at least one in vitro system can process and methylate the prenylated C-terminal, in an in vitro system that normally express Rab-38 and in vivo the prenylated C-terminal is not proteolytically processed and not methylated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB38 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RAB38 (RAB38)

No data available for DME Specific Peptides for RAB38 Gene

Domains & Families for RAB38 Gene

Gene Families for RAB38 Gene

Protein Domains for RAB38 Gene

Suggested Antigen Peptide Sequences for RAB38 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P57729

UniProtKB/Swiss-Prot:

RAB38_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 RAB38: view

Function for RAB38 Gene

Molecular function for RAB38 Gene

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. SGSM2 acts as its GAP and inactivates it by stimulating its GTPase activity.
UniProtKB/Swiss-Prot Function:
May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with ANKRD27 and VAMP7 (By similarity). 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 RAB32, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity).

Gene Ontology (GO) - Molecular Function for RAB38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity NAS 10910072
GO:0005515 protein binding IPI 22511774
GO:0005525 GTP binding IEA,NAS 10910072
GO:0030742 GTP-dependent protein binding IPI 22511774
GO:0035612 NOT AP-2 adaptor complex binding IDA 22511774
genes like me logo Genes that share ontologies with RAB38: view
genes like me logo Genes that share phenotypes with RAB38: view

Animal Model Products

miRNA for RAB38 Gene

miRTarBase miRNAs that target RAB38

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB38 Gene

Localization for RAB38 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB38 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side. Melanosome. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane; Lipid-anchor; Cytoplasmic side. 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 RAB38 gene
Compartment Confidence
mitochondrion 5
cytosol 5
lysosome 5
endosome 5
plasma membrane 3
golgi apparatus 3
endoplasmic reticulum 2
extracellular 1

Gene Ontology (GO) - Cellular Components for RAB38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA 25767741
GO:0005764 lysosome IDA 25767741
GO:0005769 early endosome IDA 22511774
genes like me logo Genes that share ontologies with RAB38: view

Pathways & Interactions for RAB38 Gene

genes like me logo Genes that share pathways with RAB38: view

Pathways by source for RAB38 Gene

1 Cell Signaling Technology pathway for RAB38 Gene

Gene Ontology (GO) - Biological Process for RAB38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006996 organelle organization IEA --
GO:0007005 mitochondrion organization IMP 25767741
GO:0007264 small GTPase mediated signal transduction IEA,NAS 10910072
GO:0015031 protein transport NAS 10910072
genes like me logo Genes that share ontologies with RAB38: view

No data available for SIGNOR curated interactions for RAB38 Gene

Transcripts for RAB38 Gene

Unigene Clusters for RAB38 Gene

RAB38, member RAS oncogene family:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB38 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d
SP1: -
SP2: - -
SP3:
SP4: - -

Relevant External Links for RAB38 Gene

GeneLoc Exon Structure for
RAB38
ECgene alternative splicing isoforms for
RAB38

Expression for RAB38 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB38 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB38 Gene

This gene is overexpressed in Esophagus - Mucosa (x9.9), Skin - Not Sun Exposed (Suprapubic) (x7.5), Skin - Sun Exposed (Lower leg) (x7.3), and Adrenal Gland (x4.5).

Protein differential expression in normal tissues from HIPED for RAB38 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (35.6), Esophagus (10.3), and Adrenal (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAB38 Gene



NURSA nuclear receptor signaling pathways regulating expression of RAB38 Gene:

RAB38

SOURCE GeneReport for Unigene cluster for RAB38 Gene:

Hs.591975

mRNA Expression by UniProt/SwissProt for RAB38 Gene:

P57729-RAB38_HUMAN
Tissue specificity: Expressed in melanocytes.
genes like me logo Genes that share expression patterns with RAB38: view

Primer Products

No data available for Protein tissue co-expression partners for RAB38 Gene

Orthologs for RAB38 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB38 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB38 34 35
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia RAB38 34 35
  • 94.31 (n)
cow
(Bos Taurus)
Mammalia RAB38 34 35
  • 93.03 (n)
rat
(Rattus norvegicus)
Mammalia Rab38 34
  • 91.15 (n)
mouse
(Mus musculus)
Mammalia Rab38 34 16 35
  • 90.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAB38 35
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB38 35
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB38 34 35
  • 79.23 (n)
lizard
(Anolis carolinensis)
Reptilia RAB38 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab38 34
  • 76.46 (n)
zebrafish
(Danio rerio)
Actinopterygii rab38a 34 35
  • 74.13 (n)
rab38b 35
  • 74 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6944 34
fruit fly
(Drosophila melanogaster)
Insecta Rab-RP1 36
  • 72 (a)
ltd 35
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea glo-1 35
  • 46 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8865 34
Species where no ortholog for RAB38 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)
  • 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)
  • 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 RAB38 Gene

ENSEMBL:
Gene Tree for RAB38 (if available)
TreeFam:
Gene Tree for RAB38 (if available)

Paralogs for RAB38 Gene

Variants for RAB38 Gene

Sequence variations from dbSNP and Humsavar for RAB38 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_036415 A colorectal cancer sample
rs10082628 -- 88,087,994(+) tcttc(C/T)gtaac intron-variant
rs10082649 -- 88,087,734(+) TACCA(C/T)AGCAA intron-variant
rs10082691 -- 88,087,690(+) ATTTC(A/G)AAATT intron-variant
rs10128567 -- 88,138,608(+) tagga(C/T)aatgg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAB38 Gene

Variant ID Type Subtype PubMed ID
dgv400e212 CNV loss 25503493
esv2664391 CNV deletion 23128226
esv275284 CNV gain+loss 21479260
esv3627144 CNV loss 21293372
esv8555 CNV loss 19470904
nsv1042017 CNV gain 25217958
nsv1042082 CNV loss 25217958
nsv527214 CNV loss 19592680
nsv555717 CNV loss 21841781

Variation tolerance for RAB38 Gene

Residual Variation Intolerance Score: 87.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB38 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB38

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB38 Gene

Disorders for RAB38 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RAB38 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pancreatitis, hereditary
  • pancreatitis, chronic
hermansky-pudlak syndrome 5
  • platelet storage pool deficiency
- elite association - COSMIC cancer census association via MalaCards
Search RAB38 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RAB38

Genetic Association Database (GAD)
RAB38
Human Genome Epidemiology (HuGE) Navigator
RAB38
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB38
genes like me logo Genes that share disorders with RAB38: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB38 Gene

Publications for RAB38 Gene

  1. Serological cloning of a melanocyte rab guanosine 5'-triphosphate- binding protein and a chromosome condensation protein from a melanoma complementary DNA library. (PMID: 10910072) Jaeger D. … Chen Y.-T. (Cancer Res. 2000) 2 3 4 22 64
  2. BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. (PMID: 23084991) Gerondopoulos A. … Barr F.A. (Curr. Biol. 2012) 3 4 64
  3. Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PMID: 21255211) Seto S. … Koide Y. (Traffic 2011) 3 4 64
  4. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini S.E. … Oksenberg J.R. (Hum. Mol. Genet. 2009) 3 46 64
  5. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PMID: 17081065) Chi A. … Hunt D.F. (J. Proteome Res. 2006) 3 4 64

Products for RAB38 Gene

Sources for RAB38 Gene

Content
Loading form....