ARL14EP - ADP ribosylation factor like GTPase 14 effector protein Gene

Homo sapiens

Also known as ARF7EP; C11orf46; dJ299F11.1

Gene ID: 120534 | Gene type: protein coding

About ARL14EP

Cytogenetic location: 11p14.1 Genomic coordinates (GRCh38): 11:30,323,104-30,338,223 (from NCBI)

This gene has 4 transcripts (splice variants), 214 orthologues, 7 paralogues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 13.3), adrenal (RPKM 11.0) and 25 other tissues.

Summary

The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein Myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014]

ARL14EP Products(1)

mRNA	Protein	Name
NM_152316.3	NP_689529.1	ARL14 effector protein

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21458045	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARL14EP Protein Structure

ARF7EP_C

0
100
200
260 a.a.

Protein Preferred Names

Protein Names

ARL14 effector protein

ADP-ribosylation factor-like 14 effector protein

Related Diseases

Diseases

Alias

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome	11p Partial Monosomy Syndrome
Chromosome 11p13 Deletion Syndrome	Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome
11p Deletion Syndrome	Chromosome 11p Deletion Syndrome
Wagr Complex	Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome
Deletion 11p13	WAGR
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome	Chromosome 11p Deletion
11p Deletion	11p Monosomy
Deletion 11p	Monosomy 11p
Partial Monosomy 11p	Agr Triad
Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome
Wagr Contiguous Gene Syndrome	Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome	Del(11)(P13)
Monosomy 11p13	Chromosome 11, Deletion 11p

Hallermann-Streiff Syndrome

Francois Dyscephalic Syndrome	HSS
Hallermann'S Syndrome	Oculomandibulofacial Syndrome
Hallerman - Streiff Syndrome	François Dyscephalic Syndrome
Hallermann Streiff Francois Syndrome	Hallermann Streiff Syndrome

Aniridia 1

Aniridia	Congenital Aniridia
AN1	An
Cataract With Late-Onset Corneal Dystrophy	Aplasia Of Iris
Absent Iris	Irideremia
Aniridia Ii, Formerly	An2, Formerly
An2	Aniridia Type Ii
Aniridia, Type 1	An-1
Absence Of Iris	Agenesis Of Iris
Congenital Absence Of Iris	Hereditary Aniridia
Sporadic Aniridia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00982	ARL14EP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ARL14EP	VGNC	VGNC:81905
Bos taurus	ARL14EP	VGNC	VGNC:26140
Macaca mulatta	ARL14EP	VGNC	VGNC:99548
Mus musculus	ARL14EP	MGD	MGI:1926020
Rattus norvegicus	ARL14EP	RGD	RGD:1311463
Canis familiaris	ARL14EP	VGNC	VGNC:38107

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