ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASAP3provided by HGNC
Official Full Name: ArfGAP with SH3 domain, ankyrin repeat and PH domain 3provided by HGNC
Primary source: HGNC:HGNC:14987
See related: Ensembl:ENSG00000088280 MIM:616594; AllianceGenome:HGNC:14987
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACAP4; UPLC1; CENTB6; DDEFL1
Summary: This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
Expression: Ubiquitous expression in ovary (RPKM 21.1), skin (RPKM 19.0) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.12

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (23428563..23484631, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (23263051..23319108, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (23755056..23810672, complement)

Chromosome 1 - NC_000001.11 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ACAP4 physically interacts with CrkII. Functional characterization showed that the interaction is required for the recruitment of ACAP4 to the plasma membrane where ACAP4 functions to regulate the recycling of the signal transducer integrin beta1.
Title: ACAP4 interacts with CrkII to promote the recycling of integrin β1.
ARF6 GTPase-activating protein ACAP4 regulates CCL18-elicited breast cancer cell migration via the acetyltransferase PCAF-mediated acetylation. CCL18 stimulation elicited breast cancer cell migration and invasion via PCAF-dependent acetylation.
Title: Acetylation of ACAP4 regulates CCL18-elicited breast cancer cell migration and invasion.
MiR-143-3p acts as an anti-oncogene by downregulating ITGA6/ASAP3 protein expression and could offer new insight into potential therapeutic targets for CRC.
Title: MicroRNA-143-3p inhibits colorectal cancer metastases by targeting ITGA6 and ASAP3.
Results show that ASAP3 was amplified in colorectal cancer (CRC) tissues, and its upregulation was associated with poor prognosis of patients with CRC. Also, it promoted growth of colon tumors, and accelerated cell invasion and migration through its binding to NEMO. These results suggest that ASAP3 acts as an oncogene.
Title: Upregulation of ASAP3 contributes to colorectal carcinogenesis and indicates poor survival outcome.
The data, for the first time, link ASAP3 with ACTG1 in the regulation of cytoskeletal maintenance and cell motility
Title: Loss of ASAP3 destabilizes cytoskeletal protein ACTG1 to suppress cancer cell migration.
). These data indicate that ASAP3 is elevated in NSCLC and may contribute to cancer development and patients' poor clinical outcome, which is possibly due to its critical roles in regulating cancer invasion.
Title: ASAP3 expression in non-small cell lung cancer: association with cancer development and patients' clinical outcome.
Phosphorylation of the N-terminal region of ACAP4 (named the Bin, Amphiphysin, and RSV161/167[BAR] domain at Tyr34) is necessary for epidermal growth factor (EGF)-elicited membrane remodeling.
Title: Phosphorylation of the Bin, Amphiphysin, and RSV161/167 (BAR) domain of ACAP4 regulates membrane tubulation.
ACAP4 protein cooperates with Grb2 protein to orchestrate epidermal growth factor-stimulated integrin beta1 recycling in cell migration
Title: ACAP4 protein cooperates with Grb2 protein to orchestrate epidermal growth factor-stimulated integrin β1 recycling in cell migration.
The ArfGAP catalytic mechanism and shows a glutamine from Arf6 and an arginine fingerASAP3 as the important catalytic residues; unexpectedly the structure shows a calcium ion, liganded by both proteins in the complex interface.
Title: The structure of an Arf-ArfGAP complex reveals a Ca2+ regulatory mechanism.
ASAP3 functions nonredundantly with ASAP1 to control cell movement and may have a role in cancer cell invasion.
Title: ASAP3 is a focal adhesion-associated Arf GAP that functions in cell migration and invasion.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cda0dc08 (e-PCR)
- UniSTS:14875

D1S1370 (e-PCR)
- UniSTS:149566

RH102051 (e-PCR)
- UniSTS:96385

D1S3162 (e-PCR)
- UniSTS:40073

SHGC-74378 (e-PCR)
- UniSTS:430

RH18164 (e-PCR)
- UniSTS:17838

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of stress fiber assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in focal adhesion	IBA Inferred from Biological aspect of Ancestor more info
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in ruffle	IBA Inferred from Biological aspect of Ancestor more info
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3

Names: ARF6 GTPase-activating protein; ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 1; centaurin, beta 6; development and differentiation enhancing factor-like 1; protein up-regulated in liver cancer 1; up-regulated in liver cancer 1 (UPLC1)

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_001143778.2 → NP_001137250.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform b

See identical proteins and their annotated locations for NP_001137250.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the coding region and uses an alternate in-frame splice site compared to variant 1. The resulting protein (isoform b) is shorter compared to isoform a.

Source sequence(s)

AK000206, AK295100, AL021154, AL357134

Consensus CDS

CCDS44087.1

UniProtKB/Swiss-Prot

Q8TDY4

Related

ENSP00000408826.2, ENST00000437606.6

Conserved Domains (7) summary

cd07640
Location:35 → 234

BAR_ASAP3; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 3

cd00204
Location:581 → 665

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 ...

cd13251
Location:285 → 391

PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain

pfam00169
Location:298 → 381

PH; PH domain

pfam01412
Location:419 → 534

ArfGap; Putative GTPase activating protein for Arf

pfam13857
Location:599 → 653

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:542 → 575

ANK; ANK repeat [structural motif]
NM_017707.4 → NP_060177.2 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform a

See identical proteins and their annotated locations for NP_060177.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AB056749, AK000206, AL021154, AL357134

Consensus CDS

CCDS235.1

UniProtKB/Swiss-Prot

B3KRW0, B4DHH4, Q6P9F4, Q86UY1, Q8TDY4, Q9NXK2

Related

ENSP00000338769.3, ENST00000336689.8

Conserved Domains (7) summary

cd07640
Location:35 → 243

BAR_ASAP3; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 3

cd00204
Location:590 → 674

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 ...

cd13251
Location:294 → 400

PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain

pfam00169
Location:307 → 390

PH; PH domain

pfam01412
Location:428 → 543

ArfGap; Putative GTPase activating protein for Arf

pfam13857
Location:608 → 662

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:551 → 584

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

23428563..23484631 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017001687.1 → XP_016857176.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X4
XM_047424481.1 → XP_047280437.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X7

Related

ENSP00000518744.1, ENST00000711427.1
XM_017001688.3 → XP_016857177.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X5

UniProtKB/TrEMBL

B4DRP2

Conserved Domains (7) summary

cd00204
Location:459 → 543

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 ...

cd13251
Location:163 → 269

PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain

pfam00169
Location:176 → 259

PH; PH domain

pfam01412
Location:297 → 412

ArfGap; Putative GTPase activating protein for Arf

pfam13857
Location:477 → 531

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:420 → 453

ANK; ANK repeat [structural motif]

cl12013
Location:1 → 112

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_017001689.2 → XP_016857178.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X6
XM_017001685.3 → XP_016857174.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X2
XM_017001686.3 → XP_016857175.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X3
XM_011541755.3 → XP_011540057.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X1

Conserved Domains (7) summary

cd07640
Location:35 → 243

BAR_ASAP3; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 3

cd00204
Location:592 → 676

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 ...

cd13251
Location:296 → 402

PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain

pfam00169
Location:309 → 392

PH; PH domain

pfam01412
Location:430 → 545

ArfGap; Putative GTPase activating protein for Arf

pfam13857
Location:610 → 664

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:553 → 586

ANK; ANK repeat [structural motif]

Reference GRCh38.p14 PATCHES

Genomic

NW_014040926.1 Reference GRCh38.p14 PATCHES

Range

198542..254610 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054331922.1 → XP_054187897.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X4
XM_054331925.1 → XP_054187900.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X7
XM_054331923.1 → XP_054187898.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X5

UniProtKB/TrEMBL

B4DRP2
XM_054331924.1 → XP_054187899.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X6
XM_054331920.1 → XP_054187895.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X2
XM_054331921.1 → XP_054187896.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X3
XM_054331919.1 → XP_054187894.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

23263051..23319108 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054337532.1 → XP_054193507.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X4
XM_054337535.1 → XP_054193510.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X7
XM_054337533.1 → XP_054193508.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X5

UniProtKB/TrEMBL

B4DRP2
XM_054337534.1 → XP_054193509.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X6
XM_054337530.1 → XP_054193505.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X2
XM_054337531.1 → XP_054193506.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X3
XM_054337529.1 → XP_054193504.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X1