ADAP1 ArfGAP with dual PH domains 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAP1provided by HGNC
Official Full Name: ArfGAP with dual PH domains 1provided by HGNC
Primary source: HGNC:HGNC:16486
See related: Ensembl:ENSG00000105963 MIM:608114; AllianceGenome:HGNC:16486
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: GCS1L; CENTA1; p42IP4
Summary: Enables GTPase activator activity. Involved in regulation of GTPase activity. Located in cytosol; nucleus; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in brain (RPKM 18.4), colon (RPKM 17.8) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p22.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (897900..955407, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (1001683..1060405, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (937537..995043, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.
Title: Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.
Oncogenic fusion transcript analysis identified ADAP1-NOC4L, potentially associated with metastatic colorectal cancer.
Title: Oncogenic fusion transcript analysis identified ADAP1-NOC4L, potentially associated with metastatic colorectal cancer.
ADAP1 promotes latent HIV-1 reactivation by selectively tuning KRAS-ERK-AP-1 T cell signaling-transcriptional axis.
Title: ADAP1 promotes latent HIV-1 reactivation by selectively tuning KRAS-ERK-AP-1 T cell signaling-transcriptional axis.
In vitro reconstitution reveals phosphoinositides as cargo-release factors and activators of the ARF6 GAP ADAP1.
Title: In vitro reconstitution reveals phosphoinositides as cargo-release factors and activators of the ARF6 GAP ADAP1.
Adap1 deletion in tumor cells ameliorated the basement membrane breakdown and had less invading cells in the stroma. Study demonstrates that ADAP1 is a critical mediator of TGF-beta-induced cancer invasion.
Title: ADAP1 promotes invasive squamous cell carcinoma progression and predicts patient survival.
Analyzed ArfGAP with dual PH domains 1 (ADAP1) using mass spectrometry and found that ADAP1 is phosphorylated at Y364.
Title: A mass spectrometry based predictive strategy reveals ADAP1 is phosphorylated at tyrosine 364.
This review highlights the functions of the neuron-specific protein ADAP1 in neuronal differentiation and neurodegenerative diseases, with an overview of structural and biochemical properties of ADAP1. [review]
Title: Functions of the neuron-specific protein ADAP1 (centaurin-α1) in neuronal differentiation and neurodegenerative diseases, with an overview of structural and biochemical properties of ADAP1.
SH-SY5Y cells, stably transfected with GFP-tagged-p42(IP4), show an enhanced NRD protein expression already at an earlier time point after retinoic acid stimulation.
Title: Retinoic acid-induced upregulation of the metalloendopeptidase nardilysin is accelerated by co-expression of the brain-specific protein p42(IP4) (centaurin α 1; ADAP1) in neuroblastoma cells.
Tubulin potentiates the interaction of the metalloendopeptidase nardilysin with the neuronal scaffold protein p42IP4/centaurin-alpha1 (ADAP1).
Title: Tubulin potentiates the interaction of the metalloendopeptidase nardilysin with the neuronal scaffold protein p42IP4/centaurin-α1 (ADAP1).
Full-length KIF13B and CENTA1 form heterotetramers that can bind four phosphoinositide molecules in the vesicle and transport it along the microtubule.
Title: Phosphorylation-independent dual-site binding of the FHA domain of KIF13 mediates phosphoinositide transport via centaurin alpha1.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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

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

SHGC-146699 (e-PCR)
- UniSTS:175378

SHGC-151230 (e-PCR)
- UniSTS:173593

STS-R20738 (e-PCR)
- UniSTS:48420

HSC231_(nt989926) (e-PCR)
- UniSTS:256381

D7S2474 (e-PCR), detects polymorphism
- UniSTS:56454

GDB:3778207 (e-PCR)
- UniSTS:67495

GDB:1318184 (e-PCR)
- UniSTS:18622

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 inositol 1,3,4,5 tetrakisphosphate binding	TAS Traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol bisphosphate binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,4,5-trisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in regulation of GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: arf-GAP with dual PH domain-containing protein 1

Names: centaurin-alpha; centaurin-alpha-1; cnt-a1; putative MAPK-activating protein PM25

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_001284308.2 → NP_001271237.2 arf-GAP with dual PH domain-containing protein 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon and initiates translation from an alternate upstream start codon compared to variant 1. The resulting longer isoform (2) has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AC073957

Consensus CDS

CCDS64577.1

Related

ENSP00000442682.1, ENST00000539900.5
NM_001284309.2 → NP_001271238.2 arf-GAP with dual PH domain-containing protein 1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate 5' terminal exon and initiates translation from an in-frame downstream start codon compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3 and 4 encode the same isoform.

Source sequence(s)

AC073957

Consensus CDS

CCDS64576.1

UniProtKB/TrEMBL

B4DUZ7

Related

ENSP00000481154.1, ENST00000611167.4

Conserved Domains (3) summary

cd01251
Location:180 → 285

PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2

cd13252
Location:58 → 166

PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1

cl28907
Location:1 → 41

ArfGap; GTPase-activating protein (GAP) for the ADP ribosylation factors (ARFs)
NM_001284310.2 → NP_001271239.2 arf-GAP with dual PH domain-containing protein 1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an exon at the 5' end and contains an alternate 5' terminal exon, which results in translation initiation from an in-frame downstream start codon compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3 and 4 encode the same isoform.

Source sequence(s)

AC073957

Consensus CDS

CCDS64576.1

Related

ENSP00000407267.2, ENST00000449296.6
NM_001284311.2 → NP_001271240.2 arf-GAP with dual PH domain-containing protein 1 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks 2 exons at the 5' end and contains an alternate 5' terminal exon, which results in translation initiation from an alternate start codon compared to variant 1. The resulting shorter isoform (4) has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AC073957

Consensus CDS

CCDS75558.1

UniProtKB/TrEMBL

A0A087WTN6, B4DUZ7

Related

ENSP00000478011.1, ENST00000617043.4

Conserved Domains (3) summary

cd01251
Location:157 → 262

PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2

cd13252
Location:35 → 143

PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1

cl29885
Location:8 → 31

ArfGap; Putative GTPase activating protein for Arf
NM_006869.4 → NP_006860.2 arf-GAP with dual PH domain-containing protein 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.

Source sequence(s)

AC073957

Consensus CDS

CCDS5318.1

UniProtKB/Swiss-Prot

A4D2Q2, B3KRZ4, B4DVA6, F6XZ68, H7C2Q4, O75689

UniProtKB/TrEMBL

A0A3B3ISA7

Related

ENSP00000265846.5, ENST00000265846.10

Conserved Domains (3) summary

smart00105
Location:10 → 126

ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF

cd01251
Location:252 → 357

PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2

cd13252
Location:130 → 238

PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1