ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACAP3provided by HGNC
Official Full Name: ArfGAP with coiled-coil, ankyrin repeat and PH domains 3provided by HGNC
Primary source: HGNC:HGNC:16754
See related: Ensembl:ENSG00000131584 AllianceGenome:HGNC:16754
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CENTB5
Summary: Predicted to enable GTPase activator activity and metal ion binding activity. Predicted to be involved in regulation of catalytic activity. Predicted to act upstream of or within neuron migration and regulation of neuron projection development. Predicted to be located in growth cone. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in skin (RPKM 16.2), brain (RPKM 12.8) and 24 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1p36.33

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (1292391..1307930, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (723917..739479, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (1227771..1243310, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Length Polymorphism and Methylation Status of UPS29 Minisatellite of the ACAP3 Gene as Molecular Biomarker of Epilepsy. Sex Differences in Seizure Types and Symptoms.
Title: Length Polymorphism and Methylation Status of UPS29 Minisatellite of the ACAP3 Gene as Molecular Biomarker of Epilepsy. Sex Differences in Seizure Types and Symptoms.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
minisatellite locus UPS29 can regulate an activity of CENTB5, SCNN1D and ACOT7 in nervous system cells.
Title: [CENTB5 gene expression in human and mouse].

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in neuron migration	IEA Inferred from Electronic Annotation more info
involved_in regulation of neuron projection development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in growth cone	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

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

Names: centaurin-beta-5; cnt-b5

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_030649.3 → NP_085152.2 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3

See identical proteins and their annotated locations for NP_085152.2

Status: VALIDATED

Source sequence(s)

AB051503, AL139287, BC051194

Consensus CDS

CCDS19.2

UniProtKB/Swiss-Prot

B1AMF5, Q5TA42, Q5TA43, Q86UT3, Q96P50, Q9BSR9, Q9C0E7

Related

ENSP00000346733.5, ENST00000354700.10

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:701 → 788

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

pfam13637
Location:705 → 756

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:702 → 733

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

1292391..1307930 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005244715.3 → XP_005244772.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X6

Related

ENSP00000321139.4, ENST00000353662.4

Conserved Domains (7) summary

cd00204
Location:668 → 755

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

pfam13637
Location:672 → 723

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:669 → 700

ANK; ANK repeat [structural motif]

cl12013
Location:16 → 215

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_011540608.3 → XP_011538910.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X4

Conserved Domains (7) summary

cd00204
Location:679 → 766

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:249 → 345

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

pfam00169
Location:247 → 341

PH; PH domain

pfam01412
Location:381 → 499

ArfGap; Putative GTPase activating protein for Arf

pfam13637
Location:683 → 734

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:680 → 711

ANK; ANK repeat [structural motif]

cl12013
Location:16 → 200

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_011540609.3 → XP_011538911.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X5

Conserved Domains (7) summary

cd00204
Location:678 → 765

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:281 → 377

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

pfam00169
Location:279 → 373

PH; PH domain

pfam01412
Location:413 → 531

ArfGap; Putative GTPase activating protein for Arf

pfam13637
Location:682 → 733

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:679 → 710

ANK; ANK repeat [structural motif]

cl12013
Location:16 → 225

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_011540606.3 → XP_011538908.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X1

Conserved Domains (7) summary

cd00204
Location:711 → 798

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:281 → 377

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

pfam00169
Location:279 → 373

PH; PH domain

pfam01412
Location:413 → 531

ArfGap; Putative GTPase activating protein for Arf

pfam13637
Location:715 → 766

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:712 → 743

ANK; ANK repeat [structural motif]

cl12013
Location:16 → 225

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_024452993.2 → XP_024308761.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X3

Conserved Domains (5) 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:701 → 788

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

sd00045
Location:702 → 733

ANK; ANK repeat [structural motif]

pfam01412
Location:403 → 521

ArfGap; Putative GTPase activating protein for Arf
XM_011540607.2 → XP_011538909.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X2

Conserved Domains (7) summary

cd00204
Location:711 → 798

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:281 → 377

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

pfam00169
Location:279 → 373

PH; PH domain

pfam01412
Location:413 → 531

ArfGap; Putative GTPase activating protein for Arf

pfam13637
Location:715 → 766

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:712 → 743

ANK; ANK repeat [structural motif]

cl12013
Location:16 → 225

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_005244717.4 → XP_005244774.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X7

Conserved Domains (5) summary

cd00204
Location:360 → 447

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 ...

pfam01412
Location:62 → 180

ArfGap; Putative GTPase activating protein for Arf

pfam13637
Location:364 → 415

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:361 → 392

ANK; ANK repeat [structural motif]

cl17171
Location:1 → 26

PH-like; Pleckstrin homology-like domain

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

723917..739479 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054334177.1 → XP_054190152.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X6
XM_054334175.1 → XP_054190150.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X4
XM_054334176.1 → XP_054190151.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X5
XM_054334172.1 → XP_054190147.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X1
XM_054334174.1 → XP_054190149.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X3
XM_054334173.1 → XP_054190148.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X2
XM_054334178.1 → XP_054190153.1 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 isoform X7