RAB23 RAB23, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB23provided by HGNC
Official Full Name: RAB23, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:14263
See related: Ensembl:ENSG00000112210 MIM:606144; AllianceGenome:HGNC:14263
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HSPC137
Summary: This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression: Broad expression in endometrium (RPKM 23.9), urinary bladder (RPKM 18.7) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.1-p11.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (57186992..57222307, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (57026017..57061677, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (57051790..57087105, complement)

Chromosome 6 - NC_000006.12 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?

Downregulation of Rab23 inhibits hepatocellular carcinoma by repressing SHH signaling pathway.
Title: Downregulation of Rab23 inhibits hepatocellular carcinoma by repressing SHH signaling pathway.
Biomarker of Pulmonary Inflammatory Response in LUAD: miR-584-5p Targets RAB23 to Suppress Inflammation Induced by LPS in A549 Cells.
Title: Biomarker of Pulmonary Inflammatory Response in LUAD: miR-584-5p Targets RAB23 to Suppress Inflammation Induced by LPS in A549 Cells.
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
Title: Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
miR3673p downregulates Rab23 expression and inhibits Hedgehog signaling resulting in the inhibition of the proliferation, migration, and invasion of prostate cancer cells.
Title: miR‑367‑3p downregulates Rab23 expression and inhibits Hedgehog signaling resulting in the inhibition of the proliferation, migration, and invasion of prostate cancer cells.
miR-597-3p inhibits invasion and migration of thyroid carcinoma SW579 cells by targeting RAB23.
Title: miR-597-3p inhibits invasion and migration of thyroid carcinoma SW579 cells by targeting RAB23.
Rab23 Promotes Hepatocellular Carcinoma Cell Migration Via Rac1/TGF-beta Signaling.
Title: Rab23 Promotes Hepatocellular Carcinoma Cell Migration Via Rac1/TGF-β Signaling.
RAB family small GTP binding protein RAB 23 (Rab23) and ADP-ribosylation factor-like 13B (Arl13b) have been implicated in ciliopathy-associated human diseases and could regulate hedgehog proteins (Hh) signalling cascade in multifaceted manners [Review].
Title: Small GTPases in hedgehog signalling: emerging insights into the disease mechanisms of Rab23-mediated and Arl13b-mediated ciliopathies.
OSER1-AS1 acted as a ceRNA to sponge miR-372-3p, thereby positively regulating the Rab23 expression and ultimately acting as a tumor suppressor gene in hepatocellular carcinoma progression
Title: lncRNA OSER1-AS1 acts as a ceRNA to promote tumorigenesis in hepatocellular carcinoma by regulating miR-372-3p/Rab23 axis.
miR-16 acts as a tumor repressor in osteosarcoma cells by reducing epithelial mesenchymal transition, migration and invasion by targeting RAB23 expression.
Title: MicroRNA-16 suppressed the invasion and migration of osteosarcoma by directly inhibiting RAB23.
Genetic variants in RAB23 and ANXA11 genes were associated with an increased risk of sarcoidosis-associated uveitis.
Title: Association of genetic variants in RAB23 and ANXA11 with uveitis in sarcoidosis.

Submit: New GeneRIF Correction See all GeneRIFs (30)

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

Associated conditions

Description	Tests
RAB23-related Carpenter syndrome MedGen: C4551510 OMIM: 201000 GeneReviews: Not available	Compare labs

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

D6S1786 (e-PCR)
- UniSTS:30745

STS-W60718 (e-PCR)
- UniSTS:79723

RAB23_476 (e-PCR)
- UniSTS:277637

RH103125 (e-PCR)
- UniSTS:97459

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 GTP metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular defense response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in craniofacial suture morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in autophagosome	IBA Inferred from Biological aspect of Ancestor more info
located_in autophagosome	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	IDA Inferred from Direct Assay more info
located_in centrosome	IDA Inferred from Direct Assay more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
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 plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ras-related protein Rab-23

Names: RAB family small GTP binding protein RAB 23

NP_001265595.1

EC 3.6.5.2

NP_001265596.1

EC 3.6.5.2

NP_001265597.1

EC 3.6.5.2

NP_057361.3

EC 3.6.5.2

NP_899050.1

EC 3.6.5.2

XP_054211572.1

EC 3.6.5.2

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.

Genomic

NG_012170.1 RefSeqGene

Range

4974..40289

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278666.2 → NP_001265595.1 ras-related protein Rab-23

See identical proteins and their annotated locations for NP_001265595.1

Status: REVIEWED

Description

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

Source sequence(s)

AF161486, AL031321, BC015021, DA391757

Consensus CDS

CCDS4962.1

UniProtKB/Swiss-Prot

B2R9I5, Q68DJ6, Q8NI06, Q9P023, Q9ULC3

Conserved Domains (1) summary

cd04106
Location:10 → 169

Rab23_like; Rab GTPase family 23 (Rab23)-like
NM_001278667.2 → NP_001265596.1 ras-related protein Rab-23

See identical proteins and their annotated locations for NP_001265596.1

Status: REVIEWED

Description

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

Source sequence(s)

AL031321, BC015021, DA391757, DA997359

Consensus CDS

CCDS4962.1

UniProtKB/Swiss-Prot

B2R9I5, Q68DJ6, Q8NI06, Q9P023, Q9ULC3

Conserved Domains (1) summary

cd04106
Location:10 → 169

Rab23_like; Rab GTPase family 23 (Rab23)-like
NM_001278668.2 → NP_001265597.1 ras-related protein Rab-23

See identical proteins and their annotated locations for NP_001265597.1

Status: REVIEWED

Description

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

Source sequence(s)

AL031321, AU280196, BC015021, DA021294

Consensus CDS

CCDS4962.1

UniProtKB/Swiss-Prot

B2R9I5, Q68DJ6, Q8NI06, Q9P023, Q9ULC3

Conserved Domains (1) summary

cd04106
Location:10 → 169

Rab23_like; Rab GTPase family 23 (Rab23)-like
NM_016277.5 → NP_057361.3 ras-related protein Rab-23

See identical proteins and their annotated locations for NP_057361.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1-5 encode the same protein.

Source sequence(s)

AL031321, BC015021, DA391757

Consensus CDS

CCDS4962.1

UniProtKB/Swiss-Prot

B2R9I5, Q68DJ6, Q8NI06, Q9P023, Q9ULC3

Related

ENSP00000417610.1, ENST00000468148.6

Conserved Domains (1) summary

cd04106
Location:10 → 169

Rab23_like; Rab GTPase family 23 (Rab23)-like
NM_183227.3 → NP_899050.1 ras-related protein Rab-23

See identical proteins and their annotated locations for NP_899050.1

Status: REVIEWED

Description

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

Source sequence(s)

AL031321, BC015021, DA021294

Consensus CDS

CCDS4962.1

UniProtKB/Swiss-Prot

B2R9I5, Q68DJ6, Q8NI06, Q9P023, Q9ULC3

Related

ENSP00000320413.3, ENST00000317483.4

Conserved Domains (1) summary

cd04106
Location:10 → 169

Rab23_like; Rab GTPase family 23 (Rab23)-like

RNA

NR_103822.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks several internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK311123, AL031321, BC015021, DA391757