RAB12 RAB12, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB12provided by HGNC
Official Full Name: RAB12, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:31332
See related: Ensembl:ENSG00000206418 MIM:616448; AllianceGenome:HGNC:31332
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables GDP binding activity. Predicted to be involved in several processes, including endocytic recycling; endosome to lysosome transport; and secretion by cell. Predicted to act upstream of or within cellular response to type II interferon. Predicted to be located in lysosome; phagocytic vesicle; and recycling endosome membrane. Predicted to be active in cytoplasmic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in heart (RPKM 8.8), fat (RPKM 6.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18p11.22

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (8609437..8639383)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (8772604..8802430)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (8609435..8639381)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia.
Title: Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia.
Rab12 is a regulator of LRRK2 and its activation by damaged lysosomes.
Title: Rab12 is a regulator of LRRK2 and its activation by damaged lysosomes.
LRRK2-mediated phosphorylation and thermal stability of Rab12 are regulated by bound nucleotides.
Title: LRRK2-mediated phosphorylation and thermal stability of Rab12 are regulated by bound nucleotides.
The clathrin adaptor complex-1 and Rab12 regulate post-golgi trafficking of WT epidermal growth factor receptor (EGFR).
Title: The clathrin adaptor complex-1 and Rab12 regulate post-golgi trafficking of WT epidermal growth factor receptor (EGFR).
show that DENND3 binds actin through a surface of positively charged residues on the PHenn domain of Ran12
Title: A PH-like domain of the Rab12 guanine nucleotide exchange factor DENND3 binds actin and is required for autophagy.
DENND3 is the exchange factor for the small GTPase Rab12 regulated through an intramolecular interaction
Title: Regulation of DENND3, the exchange factor for the small GTPase Rab12 through an intramolecular interaction.
a novel signaling pathway identified whereby starvation-induced activation of ULK leads to phosphorylation of endogenous DENND3, with subsequent activation of Rab12 and initiation of membrane trafficking events required for autophagy
Title: Phosphorylation of the exchange factor DENND3 by ULK in response to starvation activates Rab12 and induces autophagy.
findings demonstrate the functional importance of Rab12 for retrograde toxin trafficking
Title: Rab12 localizes to Shiga toxin-induced plasma membrane invaginations and controls toxin transport.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH119614 (e-PCR)
- UniSTS:133932

SGC33969 (e-PCR)
- UniSTS:39737

G29154 (e-PCR)
- UniSTS:27474

D18S843 (e-PCR), detects polymorphism
- UniSTS:57231

RH17850 (e-PCR)
- UniSTS:74130

RH36089 (e-PCR)
- UniSTS:82076

SHGC-58531 (e-PCR)
- UniSTS:94383

RH16019 (e-PCR)
- UniSTS:27850

SHGC-63602 (e-PCR)
- UniSTS:4845

A006T07 (e-PCR)
- UniSTS:18420

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GDP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rab protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in endocytic recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in endosome to lysosome transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in autophagosome	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in recycling endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in recycling endosome membrane	TAS Traceable Author Statement more info
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in trans-Golgi network transport vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ras-related protein Rab-12

Names: putative Ras-related protein Rab-12

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_001025300.3 → NP_001020471.3 ras-related protein Rab-12

Status: VALIDATED

Source sequence(s)

AP001793

Consensus CDS

CCDS42410.2

UniProtKB/TrEMBL

A0A3B3ITT1

Related

ENSP00000497886.1, ENST00000649141.2

Conserved Domains (1) summary

cd04120
Location:139 → 340

Rab12; Rab GTPase family 12 (Rab12)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

8609437..8639383

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006722300.4 → XP_006722363.1 ras-related protein Rab-12 isoform X1

Conserved Domains (1) summary

cl21455
Location:14 → 212

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases