ARL14EP - ADP ribosylation factor like GTPase 14 effector protein Gene

Also Known as ARF7EP; C11orf46; dJ299F11.1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 120534

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 References 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

ARF7EP_C: ARF7 effector protein C-terminus (145 - 249)

  • 0
  • 100
  • 200
  • 260 a.a.
Protein Preferred Names Protein Names

ARL14 effector protein

  • ADP-ribosylation factor-like 14 effector protein

ARL14EP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ARL14EP Q8N8R7 SETDB2 Homo sapiens Q96T68
Y2H Array
31515488
Intra
ARL14EP Q8N8R7 SETDB2 Homo sapiens Q96T68
Y2H Prey Pooling
25416956
Intra
ARL14EP Q8N8R7 SETDB2 Homo sapiens Q96T68
Validated Y2H
25416956
Intra
ARL14EP Q8N8R7 SETDB2 Homo sapiens Q96T68
Y2H Array
25416956
Intra
ARL14EP Q8N8R7 SETDB2 Homo sapiens Q96T68-2
Validated Y2H
32296183
Intra
ARL14EP Q8N8R7 ARL14 Homo sapiens Q8N4G2
Anti Tag CoIP
21458045
Intra
ARL14EP Q8N8R7 ARL14 Homo sapiens Q8N4G2
Y2H
21458045
Intra
ARL14EP Q8N8R7 MYO1E Homo sapiens Q12965
Pull Down
21458045
Intra
ARL14EP Q8N8R7 ATF7IP Homo sapiens Q6VMQ6
Anti Tag CoIP
35271311
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set / 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
Others ARL14EP NCBI