Rab38 RAB38, member RAS oncogene family [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rab38provided by MGI
Official Full Name: RAB38, member RAS oncogene familyprovided by MGI
Primary source: MGI:MGI:1919683
See related: Ensembl:ENSMUSG00000030559 AllianceGenome:MGI:1919683
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: cht; 2310011F14Rik
Summary: Predicted to enable several functions, including AP-1 adaptor complex binding activity; AP-3 adaptor complex binding activity; and BLOC-2 complex binding activity. Predicted to be involved in several processes, including endosome to melanosome transport; positive regulation of phosphatidylcholine biosynthetic process; and vesicle organization. Predicted to act upstream of or within protein transport. Located in melanosome. Is expressed in alimentary system; axial skeleton; lung; sensory organ; and skin. Orthologous to human RAB38 (RAB38, member RAS oncogene family). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in limb E14.5 (RPKM 5.1), kidney adult (RPKM 3.0) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 D3; 7 49.19 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (88079481..88140780)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (88430273..88491572)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rab32/38-Dependent and -Independent Transport of Tyrosinase to Melanosomes in B16-F1 Melanoma Cells.
Title: Rab32/38-Dependent and -Independent Transport of Tyrosinase to Melanosomes in B16-F1 Melanoma Cells.
our study demonstrates the absence of impact of RAB38 or RAB32 single deficiency in platelet biogenesis and function resulting from full redundancy, and characterized a new mouse model mimicking HPS devoid of DG content.
Title: Combined deficiency of RAB32 and RAB38 in the mouse mimics Hermansky-Pudlak syndrome and critically impairs thrombosis.
These results provide strong evidence that the aberrant lung surfactant homeostasis in the LEC rats is caused by Rab(3)8 deficit, and suggest that endobronchial delivery of the responsive transgene could be an effective method to ameliorate the abnormal lung phenotype in the animal model of HPS.
Title: Exogenous gene transfer of Rab(3)8 small GTPase ameliorates aberrant lung surfactant homeostasis in Ruby rats.
Data suggest RUTBC1/SGSM2 in melanocytes functions as physiological GTPase-activating protein for Rab32/Rab38 in regulation of transport of melanogenic enzymes (tyrosinase, tyrosinase-related protein 1, dopachrome isomerase) into melanosomes.
Title: RUTBC1 Functions as a GTPase-activating Protein for Rab32/38 and Regulates Melanogenic Enzyme Trafficking in Melanocytes.
RHOC and RAB38 are dispensable for osteoclast function.
Title: The collection of NFATc1-dependent transcripts in the osteoclast includes numerous genes non-essential to physiologic bone resorption.
Varp functions as the Rab32/38 effector that controls trafficking of Tyrp1 in melanocytes.
Title: Varp is a novel Rab32/38-binding protein that regulates Tyrp1 trafficking in melanocytes.
These results suggest that the genetic abnormality of Rab38 affects multiple lysosome-related organelles, resulting in lung disease in addition to oculocutaneous albinism.
Title: A mutation in Rab38 small GTPase causes abnormal lung surfactant homeostasis and aberrant alveolar structure in mice.
Loss of functional Rab38 in the "chocolate" (cht) mouse causes dramatically reduced numbers of melanosomes in adult retinal pigment epithelium, in contrast to the mild phenotype previously shown in skin melanocytes.
Title: Melanosome maturation defect in Rab38-deficient retinal pigment epithelium results in instability of immature melanosomes during transient melanogenesis.
Rab38(cht/cht) mice show ocular characteristics reminiscent of human oculocutaneous albinism, as well as iris and RPE thinning.
Title: Analysis of ocular hypopigmentation in Rab38cht/cht mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1)
Targeted (2) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH135407 (e-PCR)
- UniSTS:218684

PMC123672P1 (e-PCR)
- UniSTS:270454

PMC123672P2 (e-PCR)
- UniSTS:270455

AU043391 (e-PCR)
- UniSTS:159667

Homology

Homologs of the Rab38 gene: The Rab38 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 458 organisms have orthologs with human gene Rab38
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables AP-1 adaptor complex binding	ISO Inferred from Sequence Orthology more info
enables AP-3 adaptor complex binding	ISO Inferred from Sequence Orthology more info
enables BLOC-2 complex binding	ISO Inferred from Sequence Orthology more info
enables GTP binding	ISO Inferred from Sequence Orthology more info
enables GTP-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endosome to melanosome transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in melanosome assembly	ISO Inferred from Sequence Orthology more info
involved_in melanosome organization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in mitochondrion organization	ISO Inferred from Sequence Orthology more info
involved_in phagosome acidification	ISO Inferred from Sequence Orthology more info
involved_in platelet dense granule organization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of melanin biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phosphatidylcholine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein localization to cell periphery	ISO Inferred from Sequence Orthology more info
involved_in protein localization to membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
colocalizes_with Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in cell body	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info	PubMed
colocalizes_with endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
is_active_in melanosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in melanosome	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with melanosome	ISO Inferred from Sequence Orthology more info
located_in melanosome	ISO Inferred from Sequence Orthology more info
located_in melanosome membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondria-associated endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in phagocytic vesicle	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ras-related protein Rab-38

Names: RAB38, member of RAS oncogene family; chocolate

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_028238.7 → NP_082514.4 ras-related protein Rab-38

See identical proteins and their annotated locations for NP_082514.4

Status: VALIDATED

Source sequence(s)

AK054253

Consensus CDS

CCDS21439.1

UniProtKB/Swiss-Prot

Q8QZZ8, Q9D7E8

UniProtKB/TrEMBL

Q5FW76

Related

ENSMUSP00000102877.3, ENSMUST00000107256.4

Conserved Domains (2) summary

smart00175
Location:10 → 180

RAB; Rab subfamily of small GTPases

cd04107
Location:10 → 208

Rab32_Rab38; Rab GTPase families 18 (Rab18) and 32 (Rab32)