ARL14 ARF like GTPase 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARL14provided by HGNC
Official Full Name: ARF like GTPase 14provided by HGNC
Primary source: HGNC:HGNC:22974
See related: Ensembl:ENSG00000179674 MIM:614439; AllianceGenome:HGNC:22974
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: ARF7
Summary: Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to be located in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: mouse all
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Genomic context

Location:: 3q25.33

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (160677160..160678448)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (163451739..163453027)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (160394948..160396236)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The amphipathic helices of Arfrp1 and Arl14 are sufficient to determine subcellular localizations.
Title: The amphipathic helices of Arfrp1 and Arl14 are sufficient to determine subcellular localizations.

Submit: New GeneRIF Correction

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
Genome-wide analysis of methotrexate pharmacogenomics in rheumatoid arthritis shows multiple novel risk variants and leads for TYMS regulation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. 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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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 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
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ADP-ribosylation factor-like protein 14

Names: ADP ribosylation factor like GTPase 14; ADP-ribosylation factor 7; ADP-ribosylation factor-like 14

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_025047.3 → NP_079323.1 ADP-ribosylation factor-like protein 14

See identical proteins and their annotated locations for NP_079323.1

Status: VALIDATED

Source sequence(s)

BC034354, BM760777

Consensus CDS

CCDS3192.1

UniProtKB/Swiss-Prot

Q8N4G2, Q9H655

Related

ENSP00000323847.2, ENST00000320767.4

Conserved Domains (2) summary

cd04156
Location:15 → 174

ARLTS1; Arf-like tumor suppressor gene 1 (ARLTS1 or Arl11)

smart00178
Location:1 → 175

SAR; Sar1p-like members of the Ras-family of small GTPases