Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Acap3provided by MGI
Official Full Name: ArfGAP with coiled-coil, ankyrin repeat and PH domains 3provided by MGI
Primary source: MGI:MGI:2153589
See related: Ensembl:ENSMUSG00000029033 AllianceGenome:MGI:2153589
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: Centb5; mKIAA1716; Kiaa1716-hp
Summary: Enables GTPase activator activity. Acts upstream of or within neuron migration and regulation of neuron projection development. Located in growth cone. Is expressed in several structures, including adipose tissue; brain; genitourinary system; liver; and spleen. Orthologous to human ACAP3 (ArfGAP with coiled-coil, ankyrin repeat and PH domains 3). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 26.0), CNS E18 (RPKM 24.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 E2; 4 87.66 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (155976332..155991708)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (155891875..155907251)

Chromosome 4 - NC_000070.7 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?

ACAP3 is involved in neuronal migration in the developing cerebral cortex of mice. Knockdown of ACAP3 in the developing cortical neurons of mice in utero significantly abrogated neuronal migration in the cortical layer, which was restored by ectopic expression of wild type of ACAP3, but not by its GTPase-activating protein - inactive mutant.
Title: ACAP3, the GTPase-activating protein specific to the small GTPase Arf6, regulates neuronal migration in the developing cerebral cortex.
cycling between active and inactive forms of Arf6, which is precisely regulated by ACAP3 in concert with a guanine-nucleotide-exchange factor(s), seems to be required for neurite outgrowth of hippocampal neurons
Title: ACAP3 regulates neurite outgrowth through its GAP activity specific to Arf6 in mouse hippocampal neurons.
minisatellite locus UPS29 can regulate an activity of CENTB5, SCNN1D and ACOT7 in nervous system cells.
Title: [CENTB5 gene expression in human and mouse].

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Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in growth cone	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3

Names: centaurin, beta 5

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_207223.1 → NP_997106.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3

See identical proteins and their annotated locations for NP_997106.1

Status: PROVISIONAL

Source sequence(s)

BC067016

Consensus CDS

CCDS38997.1

UniProtKB/TrEMBL

Q3UH98, Q6NXL5

Related

ENSMUSP00000101209.4, ENSMUST00000105584.10

Conserved Domains (7) summary

cd07637
Location:16 → 215

BAR_ACAP3; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with Coiled-coil, ANK repeat and PH domain containing protein 3

cd00204
Location:671 → 786

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd13250
Location:271 → 367

PH_ACAP; ArfGAP with coiled-coil, ankyrin repeat and PH domains Pleckstrin homology (PH) domain

pfam00169
Location:269 → 363

PH; PH domain

pfam01412
Location:403 → 521

ArfGap; Putative GTPase activating protein for Arf

pfam12796
Location:671 → 764

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:700 → 731

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

155976332..155991708

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006538541.5 → XP_006538604.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X1

See identical proteins and their annotated locations for XP_006538604.1

UniProtKB/TrEMBL

Q3UH98

Related

ENSMUST00000137726.8

Conserved Domains (5) summary

PTZ00322
Location:663 → 758

PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional

cd13250
Location:229 → 325

PH_ACAP; ArfGAP with coiled-coil, ankyrin repeat and PH domains Pleckstrin homology (PH) domain

sd00045
Location:658 → 689

ANK; ANK repeat [structural motif]

cd08850
Location:361 → 476

ArfGap_ACAP3; ArfGAP domain of ACAP3 (ArfGAP with Coiled-coil, ANK repeat and PH domains 3)

cl12013
Location:1 → 173

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_006538542.3 → XP_006538605.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X1

See identical proteins and their annotated locations for XP_006538605.1

UniProtKB/TrEMBL

Q3UH98

Conserved Domains (5) summary

PTZ00322
Location:663 → 758

PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional

cd13250
Location:229 → 325

PH_ACAP; ArfGAP with coiled-coil, ankyrin repeat and PH domains Pleckstrin homology (PH) domain

sd00045
Location:658 → 689

ANK; ANK repeat [structural motif]

cd08850
Location:361 → 476

ArfGap_ACAP3; ArfGAP domain of ACAP3 (ArfGAP with Coiled-coil, ANK repeat and PH domains 3)

cl12013
Location:1 → 173

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature