RABL6 RAB, member RAS oncogene family like 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RABL6provided by HGNC
Official Full Name: RAB, member RAS oncogene family like 6provided by HGNC
Primary source: HGNC:HGNC:24703
See related: Ensembl:ENSG00000196642 MIM:610615; AllianceGenome:HGNC:24703
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: PARF; RBEL1; pp8875; C9orf86
Summary: This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Expression: Ubiquitous expression in colon (RPKM 19.6), prostate (RPKM 17.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (136807948..136841187)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (149042110..149075389)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (139702400..139735639)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

CircTMC5 promotes gastric cancer progression and metastasis by targeting miR-361-3p/RABL6.
Title: CircTMC5 promotes gastric cancer progression and metastasis by targeting miR-361-3p/RABL6.
RABL6A Is an Essential Driver of MPNSTs that Negatively Regulates the RB1 Pathway and Sensitizes Tumor Cells to CDK4/6 Inhibitors.
Title: RABL6A Is an Essential Driver of MPNSTs that Negatively Regulates the RB1 Pathway and Sensitizes Tumor Cells to CDK4/6 Inhibitors.
RABL6A Regulates Schwann Cell Senescence in an RB1-Dependent Manner.
Title: RABL6A Regulates Schwann Cell Senescence in an RB1-Dependent Manner.
High expression of RABL6 promotes cell proliferation and predicts poor prognosis in esophageal squamous cell carcinoma.
Title: High expression of RABL6 promotes cell proliferation and predicts poor prognosis in esophageal squamous cell carcinoma.
The present work identifies RABL6A as a new inhibitor of the PP2A tumor suppressor and an essential activator of AKT in PNET cells. Our findings offer what we believe is a novel strategy of PP2A reactivation for treatment of PNETs as well as other human cancers driven by RABL6A overexpression and PP2A inactivation.
Title: RABL6A inhibits tumor-suppressive PP2A/AKT signaling to drive pancreatic neuroendocrine tumor growth.
Rb knockdown reversed RBEL1 depletion-induced tumor suppressive effects. In conclusion, the present results suggest that RBEL1 modulates cell proliferation and G1S transition by inhibiting Rb in osteosarcoma
Title: RBEL1 is required for osteosarcoma cell proliferation via inhibiting retinoblastoma 1.
work identifies RABL6A as a novel negative regulator of Rb1
Title: RABL6A promotes G1-S phase progression and pancreatic neuroendocrine tumor cell proliferation in an Rb1-dependent manner.
Breast cancer patients with high levels of C9orf86 expression showed a significant trend towards worse survival compared to patients with low C9orf86 expression.
Title: Down-regulation of c9orf86 in human breast cancer cells inhibits cell proliferation, invasion and tumor growth and correlates with survival of breast cancer patients.
RBEL1A appears to function as a novel p53 negative regulator that facilitates MDM2-dependent p53 ubiquitylation and degradation.
Title: Negative regulation of p53 by Ras superfamily protein RBEL1A.
characterization of all four RBEL1 splice variants in terms of their GTPase activities, subcellular localizations, regulations & potential functions; results indicate RBEL1 proteins are linked to cell growth & survival & possess unique characteristics
Title: Identification and characterization of RBEL1 subfamily of GTPases in the Ras superfamily involved in cell growth regulation.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

RH65048 (e-PCR)
- UniSTS:86085

RH78559 (e-PCR)
- UniSTS:52862

228 (e-PCR), detects polymorphism
- UniSTS:68533

Gene Ontology Provided by GOA

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

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: rab-like protein 6

Names: Rab-like GTP-binding protein 1C; partner of ARF; putative GTP-binding protein Parf

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_031950.1 RefSeqGene

Range

5027..38266

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001173988.2 → NP_001167459.1 rab-like protein 6 isoform 3

See identical proteins and their annotated locations for NP_001167459.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).

Source sequence(s)

BC021095, BC035786, CR989427, EF156752

Consensus CDS

CCDS55352.1

UniProtKB/TrEMBL

B3KXX7

Related

ENSP00000360727.6, ENST00000371663.10

Conserved Domains (2) summary

pfam00071
Location:45 → 222

Ras; Ras family

cl21455
Location:44 → 222

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001173989.4 → NP_001167460.1 rab-like protein 6 isoform 4

See identical proteins and their annotated locations for NP_001167460.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the coding region and uses an alternate splice pattern in the 3' coding region and 3' UTR, compared to variant 3. The resulting isoform (4) lacks one internal residue and has a substantially shorter and distinct C-terminus, compared to isoform 3.

Source sequence(s)

DA805618, GQ169126

Consensus CDS

CCDS55353.1

UniProtKB/Swiss-Prot

Q3YEC7

Related

ENSP00000360736.4, ENST00000371671.9

Conserved Domains (2) summary

pfam00071
Location:45 → 221

Ras; Ras family

cl21455
Location:44 → 221

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_024718.5 → NP_078994.3 rab-like protein 6 isoform 1

See identical proteins and their annotated locations for NP_078994.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice site in the coding region, compared to variant 3. The resulting isoform (1) lacks one internal residue, compared to isoform 3.

Source sequence(s)

BC002945, BC021095, BC035786, CR989427

Consensus CDS

CCDS48058.1

UniProtKB/Swiss-Prot

A8QVZ7, A8QVZ8, C6K8I4, C6K8I5, Q3YEC7, Q4F968, Q5T5R7, Q8IWK1, Q8TCL4, Q8WU94, Q96SR8, Q9BU21, Q9H935

UniProtKB/TrEMBL

B3KXX7

Related

ENSP00000311134.7, ENST00000311502.12

Conserved Domains (2) summary

pfam00071
Location:45 → 221

Ras; Ras family

cl21455
Location:44 → 221

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

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_000009.12 Reference GRCh38.p14 Primary Assembly

Range

136807948..136841187

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

149042110..149075389

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_017995.1: Suppressed sequence

Description

NM_017995.1: This RefSeq was permanently suppressed because it represents a poorly supported variant with non-consensus splice sites.