Arfgef1 ARF guanine nucleotide exchange factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Arfgef1provided by MGI
Official Full Name: ARF guanine nucleotide exchange factor 1provided by MGI
Primary source: MGI:MGI:2442988
See related: Ensembl:ENSMUSG00000067851 AllianceGenome:MGI:2442988
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: BIG1; P200; ARFGEP1; D130059B05Rik; D730028O18Rik
Summary: Predicted to enable guanyl-nucleotide exchange factor activity; myosin binding activity; and protein kinase A regulatory subunit binding activity. Predicted to be involved in several processes, including negative regulation of GTPase activity; negative regulation of actin filament polymerization; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Predicted to act upstream of with a positive effect on protein glycosylation. Predicted to be located in several cellular components, including Golgi apparatus; nuclear lumen; and perinuclear region of cytoplasm. Predicted to be part of small nuclear ribonucleoprotein complex. Is expressed in brain. Orthologous to human ARFGEF1 (ARF guanine nucleotide exchange factor 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in bladder adult (RPKM 12.0), placenta adult (RPKM 10.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 A2; 1 2.36 cM

Exon count:: 38

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (10207732..10303306, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (10137507..10232670, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BIG1 mediates sepsis-induced lung injury by modulating lipid raft-dependent macrophage inflammatory responses.
Title: BIG1 mediates sepsis-induced lung injury by modulating lipid raft-dependent macrophage inflammatory responses.
Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABAA receptors.
Title: Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABA(A) receptors.
an early acting GEF (GBF1) activates ARFs that mediate recruitment of late acting GEFs (BIG1/2) to coordinate coating events within the pre-Golgi/Golgi/TGN continuum.
Title: The Sec7 guanine nucleotide exchange factor GBF1 regulates membrane recruitment of BIG1 and BIG2 guanine nucleotide exchange factors to the trans-Golgi network (TGN).

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Gene trapped (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

03.MMHAP85FLA3.seq (e-PCR)
- UniSTS:122752

D5Mit392.1 (e-PCR), detects polymorphism
- UniSTS:130544

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
enables guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
enables myosin binding	IEA Inferred from Electronic Annotation more info
enables myosin binding	ISO Inferred from Sequence Orthology more info
enables protein kinase A regulatory subunit binding	ISO Inferred from Sequence Orthology more info
enables protein kinase A regulatory subunit binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in Golgi organization	ISO Inferred from Sequence Orthology more info
involved_in Golgi organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in endomembrane system organization	ISO Inferred from Sequence Orthology more info
involved_in endomembrane system organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of GTPase activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of actin filament polymerization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of actin filament polymerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of wound healing	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of wound healing	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_positive_effect protein glycosylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_positive_effect protein glycosylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of ARF protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of establishment of cell polarity	ISO Inferred from Sequence Orthology more info
involved_in regulation of establishment of cell polarity	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear matrix	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
part_of small nuclear ribonucleoprotein complex	ISO Inferred from Sequence Orthology more info
part_of small nuclear ribonucleoprotein complex	ISS Inferred from Sequence or Structural Similarity more info
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: brefeldin A-inhibited guanine nucleotide-exchange protein 1

Names: ADP ribosylation factor guanine nucleotide exchange factor 1; ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited); brefeldin A-inhibited GEP 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001102430.1 → NP_001095900.1 brefeldin A-inhibited guanine nucleotide-exchange protein 1

See identical proteins and their annotated locations for NP_001095900.1

Status: PROVISIONAL

Source sequence(s)

AC102462, AC159972

Consensus CDS

CCDS35512.1

UniProtKB/Swiss-Prot

G3X9K3, Q8BKL2

Related

ENSMUSP00000085986.5, ENSMUST00000088615.11

Conserved Domains (5) summary

PLN03076
Location:15 → 1763

PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional

pfam01369
Location:695 → 879

Sec7; Sec7 domain

pfam09324
Location:1217 → 1298

DUF1981; Domain of unknown function (DUF1981)

pfam12783
Location:416 → 570

Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

pfam16213
Location:29 → 210

DCB; Dimerization and cyclophilin-binding domain of Mon2