ARFGEF1 - ADP ribosylation factor guanine nucleotide exchange factor 1 Gene

Also Known as BIG1; P200; DEDISB; ARFGEP1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10565

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
NOT enables GTPase activator activity IDA
IDA: Inferred from direct assay
15644318 GOA
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
15644318 GOA
enables myosin binding IPI
IPI: Inferred from physical interaction
15644318 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10716990 GOA
enables protein kinase A regulatory subunit binding IDA
IDA: Inferred from direct assay
12571360 GOA
Biological Process GO Annotation Evidence References Source
involved in Golgi organization IMP
IMP: Inferred from mutant phenotype
17227842 GOA
involved in endomembrane system organization IMP
IMP: Inferred from mutant phenotype
20360857 GOA
involved in negative regulation of GTPase activity IDA
IDA: Inferred from direct assay
15644318 GOA
involved in negative regulation of actin filament polymerization IMP
IMP: Inferred from mutant phenotype
22084092 GOA
involved in positive regulation of wound healing IMP
IMP: Inferred from mutant phenotype
22084092 GOA
acts upstream of positive effect protein glycosylation IMP
IMP: Inferred from mutant phenotype
17227842 GOA
involved in regulation of establishment of cell polarity IMP
IMP: Inferred from mutant phenotype
22084092 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi membrane IDA
IDA: Inferred from direct assay
10716990 GOA
located in cytosol IDA
IDA: Inferred from direct assay
10716990 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
14973189 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
22084092 GOA
part of small nuclear ribonucleoprotein complex IDA
IDA: Inferred from direct assay
18292223 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

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)

ARFGEF1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ARFGEF1 Q9Y6D6 KANK1 Homo sapiens Q14678
Anti Tag CoIP
22084092
Intra
ARFGEF1 Q9Y6D6 KANK1 Homo sapiens Q14678
Anti Bait CoIP
22084092
Intra
ARFGEF1 Q9Y6D6 KIF21A Homo sapiens Q7Z4S6
Anti Bait CoIP
22084092
Intra
ARFGEF1 Q9Y6D6 KIF21A Homo sapiens Q7Z4S6
Confocal
19020088
Intra
ARFGEF1 Q9Y6D6 ARFGEF2 Homo sapiens Q9Y6D5
Anti Bait CoIP
19332778
Intra
ARFGEF1 Q9Y6D6 ARFGEF2 Homo sapiens Q9Y6D5
Anti Bait CoIP
22084092
Intra
ARFGEF1 Q9Y6D6 ARFGEF2 Homo sapiens Q9Y6D5
Anti Tag CoIP
35271311
Intra
ARFGEF1 Q9Y6D6 ARFGEF2 Homo sapiens Q9Y6D5
GMS
19332778
Intra
ARFGEF1 Q9Y6D6 NCL Homo sapiens P19338
Anti Bait CoIP
18292223
Intra
ARFGEF1 Q9Y6D6 MYO9B Homo sapiens Q13459-2
Pull Down
15644318
Intra
ARFGEF1 Q9Y6D6 KIF21A Homo sapiens Q7Z4S6-2
Anti Tag CoIP
19020088
Intra
ARFGEF1 Q9Y6D6 MYCBP Homo sapiens Q99417
Anti Tag CoIP
35271311
Intra
ARFGEF1 Q9Y6D6 MYCBP Homo sapiens Q99417
Imaging
16866877
Intra
ARFGEF1 Q9Y6D6 PDE3A Homo sapiens Q14432
Anti Bait CoIP
19332778
Intra
ARFGEF1 Q9Y6D6 PDE3A Homo sapiens Q14432
GMS
19332778
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00902 ARFGEF1 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others ARFGEF1 NCBI