ARFRP1 - ADP ribosylation factor related protein 1 Gene

Also Known as ARP; Arp1; ARL18

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10139

About ARFRP1

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:63,698,647-63,707,976 (from NCBI)

Ubiquitous expression in spleen (RPKM 7.0), fat (RPKM 5.7) and 25 other tissues.

Summary

The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]

ARFRP1 Products (8)

mRNA Protein Name
NM_001134758.4 NP_001128230.1 ADP-ribosylation factor-related protein 1 isoform b
NM_001267544.3 NP_001254473.1 ADP-ribosylation factor-related protein 1 isoform c
NM_001267545.3 NP_001254474.1 ADP-ribosylation factor-related protein 1 isoform d
NM_001267546.3 NP_001254475.1 ADP-ribosylation factor-related protein 1 isoform e
NM_001267547.3 NP_001254476.1 ADP-ribosylation factor-related protein 1 isoform a
NM_001267548.3 NP_001254477.1 ADP-ribosylation factor-related protein 1 isoform a
NM_001267549.3 NP_001254478.1 ADP-ribosylation factor-related protein 1 isoform b
NM_003224.6 NP_003215.1 ADP-ribosylation factor-related protein 1 isoform a
Biological Process GO Annotation Evidence References Source
involved in Golgi to plasma membrane protein transport IMP
IMP: Inferred from mutant phenotype
16129887 GOA
involved in protein localization to Golgi apparatus IMP
IMP: Inferred from mutant phenotype
19224922 GOA
involved in retrograde transport, endosome to Golgi IMP
IMP: Inferred from mutant phenotype
16129887 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
19224922 GOA
located in trans-Golgi network IDA
IDA: Inferred from direct assay
16129887 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

ARFRP1 Protein Structure

Arf

Arf: ADP-ribosylation factor family (10 - 185)

  • 0
  • 100
  • 201 a.a.
Protein Preferred Names Protein Names

ADP-ribosylation factor-related protein 1

  • ARF-related protein 1

ARFRP1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81894 ARFRP1 Antibody (YA1639) WB, IP Rat
HY-P81894A ARFRP1 Antibody (YA1639)(PBS only) WB, IP Rat

Related Diseases

Diseases Alias
Wiskott-Aldrich Syndrome
  • WAS

  • Eczema-Thrombocytopenia-Immunodeficiency Syndrome

  • Immunodeficiency 2

  • Aldrich Syndrome

  • Imd2

  • Wiskott-Aldrich Syndrome 1

  • Was1

  • Wiskott Syndrome

  • Wiskott Aldrich Syndrome

  • Eczema Thrombocytopenia Immunodeficiency Syndrome

  • Imd 2

Hematocele Of Tunica Vaginalis Testis
  • Hematocele

  • Male Hematocele

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
  • Mednik Syndrome

  • Erythrokeratodermia Variabilis 3

  • MEDNIK

  • Ekv3

  • Erythrokeratodermia Variabilis, Kamouraska Type

  • Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia

  • Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

  • Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

  • Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

  • Erythrokeratodermia Variabilis Kamouraska Type

  • Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

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

Orthologs Information

Species Symbol Source ID
Felis catus ARFRP1 VGNC VGNC:98510
Rattus norvegicus ARFRP1 RGD RGD:621683
Bos taurus ARFRP1 VGNC VGNC:26069
Macaca mulatta ARFRP1 VGNC VGNC:70003
Mus musculus ARFRP1 MGD MGI:1923938
Canis familiaris ARFRP1 VGNC VGNC:38040