2. Gene
  3. ARFGEF1 - ADP ribosylation factor guanine nucleotide exchange factor 1 Gene

ARFGEF1 - ADP ribosylation factor guanine nucleotide exchange factor 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BIG1; P200; DEDISB; ARFGEP1

Gene ID: 10565 | Gene type: protein coding

About ARFGEF1

Cytogenetic location: 8q13.2 Genomic coordinates (GRCh38): 8:67,173,511-67,343,781 (from NCBI)

This gene has 8 transcripts (splice variants), 238 orthologues, 15 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 17.7), thyroid (RPKM 13.6) and 25 other tissues.

Summary

ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]

ARFGEF1 Products(15)

mRNA Protein Name
NM_001413184.1 NP_001400113.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 1
NM_001413185.1 NP_001400114.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 2
NM_001413186.1 NP_001400115.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 3
NM_001413187.1 NP_001400116.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 4
NM_001413188.1 NP_001400117.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 5
NM_001413189.1 NP_001400118.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 2
NM_001413190.1 NP_001400119.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 6
NM_001413191.1 NP_001400120.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 7
NM_001413192.1 NP_001400121.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 8
NM_001413193.1 NP_001400122.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 9
NM_001413194.1 NP_001400123.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 10
NM_001413195.1 NP_001400124.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 11
NM_001413196.1 NP_001400125.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 12
NM_001413197.1 NP_001400126.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 5
NM_006421.5 NP_006412.2 brefeldin A-inhibited guanine nucleotide-exchange protein 1 isoform 1

ARFGEF1 Protein Structure

Sec7_N

Sec7_N: Guanine nucleotide exchange factor in Golgi transport N-terminal (418 - 579)

Sec7

Sec7: Sec7 domain (696 - 882)

DUF1981

DUF1981: Domain of unknown function (DUF1981) (1219 - 1303)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1849 a.a.
Protein Preferred Names Protein Names

brefeldin A-inhibited guanine nucleotide-exchange protein 1

ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)

Related Diseases

Diseases Alias
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures

DEDISB
Joubert Syndrome 21

JBTS21

Joubert Syndrome, Type 21
Non-Syndromic X-Linked Intellectual Disability 1

Mrx1

Mrx18

Mrx78

X-Linked Mental Retardation 1/78

X-Linked Mental Retardation 18
Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
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-RS00902 ARFGEF1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris ARFGEF1 VGNC VGNC:38035
Felis catus ARFGEF1 VGNC VGNC:59868
Rattus norvegicus ARFGEF1 RGD RGD:1560793
Bos taurus ARFGEF1 VGNC VGNC:26064
Mus musculus ARFGEF1 MGD MGI:2442988
Macaca mulatta ARFGEF1 VGNC VGNC:69834