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1: ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 [ Homo sapiens ]

GeneID: 50807 updated 8-Nov-2009

[Top][Help]Summary

Official Symbol
ASAP1provided by HGNC
Official Full Name
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1provided by HGNC
Primary Source
HGNC:2720
See related
Ensembl:ENSG00000153317; HPRD:05809; MIM:605953
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
PAP; PAG2; AMAP1; DDEF1; ZG14P; CENTB4; KIAA1249; ASAP1

[Top][Help]Genomic regions, transcripts, and products

(minus strand) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Genomic context

chromosome: 8; Location: 8q24.1-q24.2See ASAP1 in MapViewer

[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. Autoinhibition of Arf GTPase-activating protein activity by the BAR domain in ASAP1
PubMed 2. ASAP1, like FIP3, functions as a component of the endocytic recycling compartment
PubMed 3. study suggests that the ASAP1 gene plays a role in prostate cancer metastasis and may represent a therapeutic target and/or biomarker for metastatic disease
PubMed 4. ASAP3 functions nonredundantly with ASAP1 to control cell movement and may have a role in cancer cell invasion.
PubMed 5. Results support a model that regulation of GAP (GTPase-activating protein) activity of ASAP1 involves conformational changes, coincident with recruitment to a membrane surface and following the specific binding of phosphatidylinositol 4,5-bisphosphate.
PubMed 6. involved in peripheral focal adhesions, directed by CRKL protein
PubMed 7. DEF-1 alters cell motility through the deactivation of ARF1. In contrast, the inhibition of cell spreading by DEF-1 was not dependent on GAP activity, indicating that spreading and motility are altered by DEF-1 through different pathways.
PubMed 8. DDEF1 overexpression may be a pathogenetically relevant consequence of chromosome 8q amplification, which commonly occurs in high-grade uveal melanomas
PubMed 9. Results suggest that the AMAP1/cortactin complex, which is not detected in normal mammary epithelial cells, is an excellent drug target for cancer therapeutics.
PubMed 10. These results suggest that POB1 interacts with PAG2 through its proline-rich motif, thereby regulating cell migration (PAG2).
Submit: New GeneRIF Correction

[Top][Help]Interactions

Description ..........
  Product Interactant Other Gene Complex Source Pubs          
 
  NP_060952.1   FAK   PTK2      HPRD    PubMed
 
  NP_060952.1   REPS2   REPS2      HPRD    PubMed
 
  NP_060952.1   c-Src   SRC      HPRD    PubMed
DDEF1 (AMAP1) interacts with an unspecified isoform of CRK (Crk II).
  NP_060952.2      CRK      BIND    PubMed
DDEF1 (AMAP1) interacts with an unspecified isoform of CTTN (cortactin).
  NP_060952.2      CTTN      BIND    PubMed
DDEF1 (AMAP1) interacts with an unspecified isoform of ITSN1 (Intersectin1).
  NP_060952.2      ITSN1      BIND    PubMed
DDEF1 (AMAP1) interacts with PACSIN3.
  NP_060952.2   NP_057307.2   PACSIN3      BIND    PubMed
DDEF1 (AMAP1) interacts with SH3KBP1 (CIN85).
  NP_060952.2   NP_114098.1   SH3KBP1      BIND    PubMed
Reconstituted Complex
  BioGRID:119126   BioGRID:107788   CRK      BioGRID    PubMed
Reconstituted Complex
  BioGRID:119126   BioGRID:111787   PXN      BioGRID    PubMed
Affinity Capture-Western; Reconstituted Complex
  BioGRID:119126   BioGRID:228794   Reps2      BioGRID    PubMed
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
  BioGRID:119126   BioGRID:112592   SRC      BioGRID    PubMed

[Top][Help]General gene information

Markers

SHGC-58182(e-PCR)
Links: UniSTS:38402
SHGC-144582(e-PCR)
Links: UniSTS:172293
DDEF1_4682(e-PCR)
Links: UniSTS:462856
D8S1921(e-PCR)
Links: UniSTS:25613
RH119359(e-PCR)
Links: UniSTS:132898
G17258(e-PCR)
Links: UniSTS:70436
SGC38391(e-PCR)
Links: UniSTS:43058
RH69822(e-PCR)
Links: UniSTS:37696
SHGC-34037(e-PCR)
Links: UniSTS:55624
RH16451(e-PCR)
Links: UniSTS:21850
RH103067(e-PCR)
Links: UniSTS:97401
D8S1945(e-PCR)
Links: UniSTS:34434
WI-3886(e-PCR)
Links: UniSTS:47244
D8S344(e-PCR)
Links: UniSTS:29863
D8S1435E(e-PCR)
Links: UniSTS:151224
SHGC-111562(e-PCR)
Links: UniSTS:168399
STS-N34678(e-PCR)
Links: UniSTS:75732
SHGC-145025(e-PCR)
Links: UniSTS:172504

Homology

Homologs of the ASAP1 gene The ASAP1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, and mosquito.


Map Viewer (Mouse, Rat)

Pathways

KEGG pathway: Endocytosis
04144
KEGG pathway: Fc gamma R-mediated phagocytosis
04666

Gene Ontology Provided by GOA

Process Evidence
regulation of ARF GTPase activity IEA   
Component Evidence
cytoplasm IEA   
membrane IEA   

[Top][Help]General protein information

Preferred Names
development and differentiation enhancing factor 1
Names
development and differentiation enhancing factor 1
centaurin, beta 4

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

mRNA and Protein(s)

  1. NM_018482.2 → NP_060952.2  development and differentiation enhancing factor 1

    Source sequence(s)
    AB033075,AI656533,AW236866,AW236958,BX537768
    Consensus CDS
    CCDS6362.1
    UniProtKB/TrEMBL
    B2RNV3
    UniProtKB/Swiss-Prot
    Q9ULH1
    Conserved Domains (4) summary
    cd00174
    Location:1071 – 1126
    Blast Score: 125
    SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization...
    cd00204
    Location:603 – 689
    Blast Score: 166
    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...
    cd01250
    Location:327 – 414
    Blast Score: 233
    PH_centaurin; Centaurin Pleckstrin homology (PH) domain. Centaurin beta and gamma consist of a PH domain, an ArfGAP domain and three ankyrin repeats. Centaurain gamma also has an N-terminal Ras homology domain. Centaurin alpha has a different domain architecture and...
    cl02464
    Location:439 – 552
    Blast Score: 300
    ArfGap; Putative GTPase activating protein for Arf

RefSeqs of Annotated Genomes: Build 37.1

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

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000008.10

    Range
    131064352..131414216, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NT_008046.16 

    Range
    44337901..44687765, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000051.1

    Range
    127244325..127594326, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_923984.1 

    Range
    44209643..44559644, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000140.1

    Range
    126385001..126734842, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_001839136.1 

    Range
    44326525..44676366, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AC009682.7   None
  genomic   AC103725.5  (40575..172944)   None
  genomic   AC131568.5  (117458..150696)   None
  genomic   AC139019.3  (22067..98771)   None
  genomic   CH471060.1   EAW92130.1
       EAW92131.1
  mRNA   AB033075.1   BAA86563.1
  mRNA   AF222859.1   AAF67666.1
  mRNA   AI656533.1   None
  mRNA   AK056811.1   None
  mRNA   AK314695.1   None
  mRNA   AW236866.1   None
  mRNA   AW236958.1   None
  mRNA   BC020631.1   AAH20631.1
  mRNA   BC070268.1   None
  mRNA   BC105978.1   None
  mRNA   BC137135.1   AAI37136.1
  mRNA   BC144493.1   None
  mRNA   BX537768.1   CAD97831.1
  mRNA   CR601698.1   None
Protein Accession   Links
Q8WWA4   GenPept   UniProtKB/TrEMBL:Q8WWA4
Q9NYZ7   GenPept   UniProtKB/TrEMBL:Q9NYZ7
Q9ULH1.3   GenPept   UniProtKB/Swiss-Prot:Q9ULH1

[Top][Help]Additional Links

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