RAB43 RAB43, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB43provided by HGNC
Official Full Name: RAB43, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:19983
See related: Ensembl:ENSG00000172780 AllianceGenome:HGNC:19983
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
Also known as: RAB41; RAB11B
Summary: Enables GTPase activity. Involved in Golgi organization; phagosome maturation; and retrograde transport, plasma membrane to Golgi. Located in Golgi apparatus and phagocytic vesicle. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 20.1), lung (RPKM 12.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (129087569..129122150, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (131832460..131867053, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (128806412..128840993, complement)

Chromosome 3 - NC_000003.12 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?

miR-4742-5p promotes invasiveness of gastric cancer via targeting Rab43: An in vitro study.
Title: miR-4742-5p promotes invasiveness of gastric cancer via targeting Rab43: An in vitro study.
Downregulation of TNFRSF19 and RAB43 by a novel miRNA, miR-HCC3, promotes proliferation and epithelial-mesenchymal transition in hepatocellular carcinoma cells.
Title: Downregulation of TNFRSF19 and RAB43 by a novel miRNA, miR-HCC3, promotes proliferation and epithelial-mesenchymal transition in hepatocellular carcinoma cells.
A germline mutation of Rab43 gene is identified to be associated with the onset of a familial liver-colon cancer syndrome.
Title: A germline mutation in Rab43 gene identified from a cancer family predisposes to a hereditary liver-colon cancer syndrome.
vesicle-associated RhoB is a regulator of the Rab11-mediated recycling of LFA-1 to the cell surface, an event that is necessary for T lymphocyte motility.
Title: RhoB controls the Rab11-mediated recycling and surface reappearance of LFA-1 in migrating T lymphocytes.
Rab43 directly interacts with GPCRs and controls the forward ER-to-Golgi traffic of nascent GPCRs.
Title: The GTPase Rab43 Controls the Anterograde ER-Golgi Trafficking and Sorting of GPCRs.
High RAB43 expression is associated with epithelial-mesenchymal transition in gliomas.
Title: High expression of RAB43 predicts poor prognosis and is associated with epithelial-mesenchymal transition in gliomas.
several crystal structures of the myosin Va or the myosin Vb globular tail domain that gives insights into how the motor is linked to the recycling membrane compartments via Rab11 or the melanophilin adaptor that binds to Rab27a.
Title: Structural basis of myosin V Rab GTPase-dependent cargo recognition.
Data indicate taht the parasitophorous vacuole (PV), marked with Rab14, Rab30, or Rab43, colocalize with host-derived sphingolipids in the vacuolar space.
Title: Toxoplasma gondii salvages sphingolipids from the host Golgi through the rerouting of selected Rab vesicles to the parasitophorous vacuole.
SGK1,3 enhances the expression level of mature hERG channels by inhibiting Nedd4-2 as well as by promoting Rab11-mediated hERG recycling.
Title: The serum- and glucocorticoid-inducible kinases SGK1 and SGK3 regulate hERG channel expression via ubiquitin ligase Nedd4-2 and GTPase Rab11.
Rab1a/b and Rab43, are important for herpes simplex virus 1 virion assembly
Title: Analysis of Rab GTPase-activating proteins indicates that Rab1a/b and Rab43 are important for herpes simplex virus 1 secondary envelopment.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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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Readthrough ISY1-RAB43

Readthrough gene: ISY1-RAB43, Included gene: ISY1

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to type II interferon	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in phagosome maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retrograde transport, plasma membrane to Golgi	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in virion assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in phagocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ras-related protein Rab-43

Names: ras-related protein Rab-41

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_001204883.2 → NP_001191812.1 ras-related protein Rab-43 isoform a

See identical proteins and their annotated locations for NP_001191812.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same isoform (a).

Source sequence(s)

AC108673, CA450364, DA317502, DA757569

Consensus CDS

CCDS33850.1

UniProtKB/Swiss-Prot

A8K4P9, E9PBQ0, Q86YS6

Related

ENSP00000376982.1, ENST00000393305.5

Conserved Domains (1) summary

cd01864
Location:16 → 180

Rab19; Rab GTPase family 19 (Rab19)
NM_001204884.2 → NP_001191813.1 ras-related protein Rab-43 isoform a

See identical proteins and their annotated locations for NP_001191813.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same isoform (a).

Source sequence(s)

AC108673, CA450364, DA008447

Consensus CDS

CCDS33850.1

UniProtKB/Swiss-Prot

A8K4P9, E9PBQ0, Q86YS6

Related

ENSP00000376984.1, ENST00000393307.5

Conserved Domains (1) summary

cd01864
Location:16 → 180

Rab19; Rab GTPase family 19 (Rab19)
NM_001204885.1 → NP_001191814.1 ras-related protein Rab-43 isoform a

See identical proteins and their annotated locations for NP_001191814.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same isoform (a).

Source sequence(s)

AC108673, CA450364, DA103180

Consensus CDS

CCDS33850.1

UniProtKB/Swiss-Prot

A8K4P9, E9PBQ0, Q86YS6

Related

ENSP00000376985.1, ENST00000393308.5

Conserved Domains (1) summary

cd01864
Location:16 → 180

Rab19; Rab GTPase family 19 (Rab19)
NM_001204886.2 → NP_001191815.1 ras-related protein Rab-43 isoform a

See identical proteins and their annotated locations for NP_001191815.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same isoform (a).

Source sequence(s)

AC108673, CA450364, DA339537

Consensus CDS

CCDS33850.1

UniProtKB/Swiss-Prot

A8K4P9, E9PBQ0, Q86YS6

Related

ENSP00000376981.1, ENST00000393304.5

Conserved Domains (1) summary

cd01864
Location:16 → 180

Rab19; Rab GTPase family 19 (Rab19)
NM_001204887.2 → NP_001191816.1 ras-related protein Rab-43 isoform b

See identical proteins and their annotated locations for NP_001191816.1

Status: VALIDATED

Description

Transcript Variant: This variant (6) includes an additional alternate exon that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a.

Source sequence(s)

AC108673, BX331971, CA450364, DB220260

Consensus CDS

CCDS56275.1

UniProtKB/Swiss-Prot

Q86YS6

Related

ENSP00000427632.1, ENST00000476465.5

Conserved Domains (1) summary

cl21455
Location:16 → 129

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001204888.2 → NP_001191817.1 ras-related protein Rab-43 isoform c

See identical proteins and their annotated locations for NP_001191817.1

Status: VALIDATED

Description

Transcript Variant: This variant (7) uses an alternate splice site that causes a frameshift in the central and 3' coding regions, compared to variant 1. The encoded isoform (c) has a distinct and shorter C-terminus, compared to isoform a.

Source sequence(s)

AC108673, AK128345, CA450364, DB220260

Conserved Domains (1) summary

cl21455
Location:16 → 63

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_198490.3 → NP_940892.1 ras-related protein Rab-43 isoform a

See identical proteins and their annotated locations for NP_940892.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1-5 all encode the same isoform.

Source sequence(s)

AC108673, AY166852, CA450364, DB220260

Consensus CDS

CCDS33850.1

UniProtKB/Swiss-Prot

A8K4P9, E9PBQ0, Q86YS6

Related

ENSP00000319781.6, ENST00000315150.10

Conserved Domains (1) summary

cd01864
Location:16 → 180

Rab19; Rab GTPase family 19 (Rab19)