DDEF1

Protein-coding gene in the species Homo sapiens
ASAP1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2D1X, 2DA0, 2ED1, 2RQT, 2RQU

Identifiers
AliasesASAP1, AMAP1, CENTB4, DDEF1, PAG2, PAP, ZG14P, ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
External IDsOMIM: 605953; MGI: 1342335; HomoloGene: 7684; GeneCards: ASAP1; OMA:ASAP1 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for ASAP1
Genomic location for ASAP1
Band8q24.21-q24.22Start130,052,104 bp[1]
End130,443,674 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for ASAP1
Genomic location for ASAP1
Band15|15 D1Start63,958,706 bp[2]
End64,254,768 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • endothelial cell

  • sural nerve

  • trabecular bone

  • sperm

  • Achilles tendon

  • lateral nuclear group of thalamus

  • oocyte

  • secondary oocyte

  • visceral pleura

  • Brodmann area 23
Top expressed in
  • saccule

  • tail of embryo

  • genital tubercle

  • otic placode

  • otic vesicle

  • granulocyte

  • secondary oocyte

  • Rostral migratory stream

  • zygote

  • lumbar spinal ganglion
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • phosphatidylinositol-4,5-bisphosphate binding
  • protein binding
  • phosphatidylinositol-3,4,5-trisphosphate binding
  • metal ion binding
  • GTPase activator activity
  • phosphatidylserine binding
  • cadherin binding
Cellular component
  • cytoplasm
  • cytosol
  • dendritic spine
  • membrane
  • podosome
  • cell projection membrane
  • plasma membrane
Biological process
  • cilium assembly
  • positive regulation of GTPase activity
  • negative regulation of dendritic spine development
  • cell projection organization
  • positive regulation of podosome assembly
  • positive regulation of membrane tubulation
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

50807

13196

Ensembl

ENSG00000153317

ENSMUSG00000022377

UniProt

Q9ULH1

Q9QWY8

RefSeq (mRNA)

NM_001247996
NM_018482
NM_001362925
NM_001362926
NM_001362924

NM_001276461
NM_001276462
NM_001276463
NM_001276467
NM_010026

RefSeq (protein)

NP_001234925
NP_060952
NP_001349854
NP_001349855
NP_001349853

NP_001263390
NP_001263391
NP_001263392
NP_001263396
NP_034156

Location (UCSC)Chr 8: 130.05 – 130.44 MbChr 15: 63.96 – 64.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 is a protein that in humans is encoded by the ASAP1 gene.[5][6]


Interactions

DDEF1 has been shown to interact with Src.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000153317 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022377 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Brown MT, Andrade J, Radhakrishna H, Donaldson JG, Cooper JA, Randazzo PA (December 1998). "ASAP1, a phospholipid-dependent arf GTPase-activating protein that associates with and is phosphorylated by Src". Molecular and Cellular Biology. 18 (12): 7038–51. doi:10.1128/mcb.18.12.7038. PMC 109286. PMID 9819391.
  6. ^ "Entrez Gene: DDEF1 development and differentiation enhancing factor 1".

Further reading

  • Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O (October 1999). "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 6 (5): 337–45. doi:10.1093/dnares/6.5.337. PMID 10574462.
  • Furman C, Short SM, Subramanian RR, Zetter BR, Roberts TM (March 2002). "DEF-1/ASAP1 is a GTPase-activating protein (GAP) for ARF1 that enhances cell motility through a GAP-dependent mechanism". The Journal of Biological Chemistry. 277 (10): 7962–9. doi:10.1074/jbc.M109149200. PMID 11773070.
  • Scott MP, Zappacosta F, Kim EY, Annan RS, Miller WT (August 2002). "Identification of novel SH3 domain ligands for the Src family kinase Hck. Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1". The Journal of Biological Chemistry. 277 (31): 28238–46. doi:10.1074/jbc.M202783200. PMID 12029088.
  • Liu Y, Loijens JC, Martin KH, Karginov AV, Parsons JT (June 2002). "The association of ASAP1, an ADP ribosylation factor-GTPase activating protein, with focal adhesion kinase contributes to the process of focal adhesion assembly". Molecular Biology of the Cell. 13 (6): 2147–56. doi:10.1091/mbc.E02-01-0018. PMC 117631. PMID 12058076.
  • Oshiro T, Koyama S, Sugiyama S, Kondo A, Onodera Y, Asahara T, Sabe H, Kikuchi A (October 2002). "Interaction of POB1, a downstream molecule of small G protein Ral, with PAG2, a paxillin-binding protein, is involved in cell migration". The Journal of Biological Chemistry. 277 (41): 38618–26. doi:10.1074/jbc.M203453200. PMID 12149250.
  • Oda A, Wada I, Miura K, Okawa K, Kadoya T, Kato T, Nishihara H, Maeda M, Tanaka S, Nagashima K, Nishitani C, Matsuno K, Ishino M, Machesky LM, Fujita H, Randazzo P (February 2003). "CrkL directs ASAP1 to peripheral focal adhesions" (PDF). The Journal of Biological Chemistry. 278 (8): 6456–60. doi:10.1074/jbc.M210817200. PMID 12522101.
  • Onodera Y, Hashimoto S, Hashimoto A, Morishige M, Mazaki Y, Yamada A, Ogawa E, Adachi M, Sakurai T, Manabe T, Wada H, Matsuura N, Sabe H (March 2005). "Expression of AMAP1, an ArfGAP, provides novel targets to inhibit breast cancer invasive activities". The EMBO Journal. 24 (5): 963–73. doi:10.1038/sj.emboj.7600588. PMC 554134. PMID 15719014.
  • Ehlers JP, Worley L, Onken MD, Harbour JW (May 2005). "DDEF1 is located in an amplified region of chromosome 8q and is overexpressed in uveal melanoma". Clinical Cancer Research. 11 (10): 3609–13. doi:10.1158/1078-0432.CCR-04-1941. PMID 15897555.
  • Che MM, Boja ES, Yoon HY, Gruschus J, Jaffe H, Stauffer S, Schuck P, Fales HM, Randazzo PA (October 2005). "Regulation of ASAP1 by phospholipids is dependent on the interface between the PH and Arf GAP domains". Cellular Signalling. 17 (10): 1276–88. doi:10.1016/j.cellsig.2005.01.007. PMID 16038802.
  • Hashimoto S, Hirose M, Hashimoto A, Morishige M, Yamada A, Hosaka H, Akagi K, Ogawa E, Oneyama C, Agatsuma T, Okada M, Kobayashi H, Wada H, Nakano H, Ikegami T, Nakagawa A, Sabe H (May 2006). "Targeting AMAP1 and cortactin binding bearing an atypical src homology 3/proline interface for prevention of breast cancer invasion and metastasis". Proceedings of the National Academy of Sciences of the United States of America. 103 (18): 7036–41. Bibcode:2006PNAS..103.7036H. doi:10.1073/pnas.0509166103. PMC 1459014. PMID 16636290.
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  • 2da0: Solution structure of the PH domain of PIP2-dependent ARF1 GTPase-activating protein from human
    2da0: Solution structure of the PH domain of PIP2-dependent ARF1 GTPase-activating protein from human


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