ARL11 ARF like GTPase 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARL11provided by HGNC
Official Full Name: ARF like GTPase 11provided by HGNC
Primary source: HGNC:HGNC:24046
See related: Ensembl:ENSG00000152213 MIM:609351; AllianceGenome:HGNC:24046
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: ARLTS1
Summary: This gene encodes a tumor suppressor related to the ADP-ribosylation factor (ARF) family of proteins. The encoded protein may play a role in apoptosis in a caspase-dependent manner. Polymorphisms in this gene have been associated with some familial cancers. [provided by RefSeq, May 2010]
Expression: Broad expression in lymph node (RPKM 2.7), spleen (RPKM 2.1) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q14.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (49628507..49633872)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (48847427..48852792)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (50202643..50208008)

Chromosome 13 - NC_000013.11 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: 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?

ARLTS1 gene mutations can be considered as a potential predisposing factor in familial hematological malignancies
Title: ARLTS1, potential candidate gene in familial aggregation of hematological malignancies.
A statistically significant (p = 0.0037) decrease of ARLTS1 expression in prostate cancer cases was detected.
Title: ARLTS1 and prostate cancer risk--analysis of expression and regulation.
the important role of ARLTS1 Cys148Arg variant as a contributor in prostate cancer predisposition
Title: Contribution of ARLTS1 Cys148Arg (T442C) variant with prostate cancer risk and ARLTS1 function in prostate cancer cells.
A significantly increased risk was observed for young ovarian cancer patients with ARLTS1 Cys148Arg variant.
Title: [Polymorphism of ARLTS1 gene in early-onset ovarian cancer].
The role of the allelic variants in ARLTS1, RAD51 and MDM2 acting in the tumor suppressor, DNA repair and p53 pathways as risk factors for familial breast cancer in 147 patients displaying characteristics of familial disease, was investigated.
Title: ARLTS1, MDM2 and RAD51 gene variations are associated with familial breast cancer.
A novel tumor suppressor gene [ARLTS1 (ADP-ribosylation factor-like tumor suppressor gene 1)]is found to be altered in human carcinogenesis. It is located in Chromosome 13q14.3.
Title: ARLTS1 - a novel tumor suppressor gene.
Data show a significantly increased risk of familial OC for ARLTS1 Cys148Arg variant, which indicate that ARLTS1 may play a role in familial ovarian cancer.
Title: Association of the ARLTS1 variants with familial ovarian cancer risk in China.
ARLTS1 germline variants are not associated with breast, prostate, and colorectal cancer
Title: ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: ARLTS1 variants and risk of colorectal cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: ARLTS1, MDM2 and RAD51 gene variations are associated with familial breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

EBI GWAS Catalog

Description
A genome-wide association study of brain lesion distribution in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

PMC156606P1 (e-PCR)
- UniSTS:271408

L18426 (e-PCR)
- UniSTS:34648

D1S1423 (e-PCR)
- UniSTS:149619

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ADP-ribosylation factor-like protein 11

Names: ADP ribosylation factor like GTPase 11; ADP-ribosylation factor-like 11; ADP-ribosylation factor-like tumor suppressor gene 1; ADP-ribosylation factor-like tumor suppressor protein 1

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.