1. Gene
  2. ARFRP1 - ADP ribosylation factor related protein 1 Gene

ARFRP1 - ADP ribosylation factor related protein 1 Gene

Homo sapiens

Also known as ARP; Arp1; ARL18

Gene ID: 10139 | Gene type: protein coding

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

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

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