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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ASAP1 Gene

protein-coding GIFtS: 55
GCID: GC08M131064

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

(Previous name: development and differentiation enhancing factor 1 )
(Previous symbol: DDEF1)

Explore 10 diseases affiliated with
ASAP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 1¹ ²		ARF GTPase-Activating Protein 1² ³
DDEF1¹ ² ³ ⁵		PIP2-Dependent ARF1 GAP² ³
CENTB4¹ ²		Development And Differentiation Enhancing Factor 1¹
PAP¹ ²		130 KDa Phosphatidylinositol 4,5-Biphosphate-Dependent ARF1 GTPase-Activating Protein²
ZG14P¹ ²		AMAP1²
KIAA1249¹ ³		PAG2²
Development And Differentiation-Enhancing Factor 1² ³		Arf-GAP With SH3 Domain, ANK Repeat And PH Domain-Containing Protein 1²
130 KDa Phosphatidylinositol 4,5-Bisphosphate-Dependent ARF1 GTPase-Activating Protein² ³		Centaurin, Beta 4²
DEF-1² ³		Differentiation-Enhancing Factor 1³
ADP-Ribosylation Factor-Directed GTPase-Activating Protein 1² ³

External Ids:	HGNC: 2720¹	Entrez Gene: 50807²	Ensembl: ENSG00000153317⁷	OMIM: 605953⁵	UniProtKB: Q9ULH1³

Export aliases for ASAP1 gene to outside databases

Previous GC identifers: GC08M131134 GC08M126385

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ASAP1:

This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is

stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6.

This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced

transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Oct 2011)

UniProtKB/Swiss-Prot: ASAP1_HUMAN, Q9ULH1

Function: Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADP

ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with cell

growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal transduction protein

involved in the differentiation of fibroblasts into adipocytes and possibly other cell types (By similarity). Plays a

role in ciliogenesis

Gene Wiki entry for ASAP1 (DDEF1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_008046.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ASAP1 gene promoter:
HTF LUN-1 STAT5A Roaz Arnt POU2F1 FOXJ2 (long isoform) POU2F1a IRF-7A FOXJ2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ASAP1 promoter sequence

Search SABiosciences Chromatin IP Primers for ASAP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASAP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q24.1-q24.2 Ensembl cytogenetic band: 8q24.21 HGNC cytogenetic band: 8q24.1-q24.2

ASAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASAP1 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M131064: view genomic region (about GC identifiers)

Start:	131,064,353 bp from pter	End:	131,455,906 bp from pter
Size:	391,554 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ASAP1_HUMAN, Q9ULH1 (See protein sequence)

Recommended Name: Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1

Size: 1129 amino acids; 125498 Da

Subunit: Homodimer. Interacts with SRC and CRK. Interacts with RAB11FIP3. Interacts with PTK2B/PYK2 (By similarity).

Interacts with CTTN. Interacts (via SH3 domain) with APC

Subcellular location: Cytoplasm (By similarity). Membrane (By similarity). Note=Predominantly cytoplasmic (By

similarity). Partially membrane-associated (By similarity)

5 PDB 3D structures from and Proteopedia for ASAP1:

2D1X (3D)

2DA0 (3D)

2ED1 (3D)

2RQT (3D)

2RQU (3D)

Secondary accessions: B2RNV3

Alternative splicing: 2 isoforms: Q9ULH1-1 Q9ULH1-2

Explore the universe of human proteins at neXtProt for ASAP1: NX_Q9ULH1

Post-translational modifications:

Phosphorylated on tyrosine residues by SRC (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9ULH1

ASAP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001234925.1 NP_060952.2

ENSEMBL proteins:

ENSP00000429391 ENSP00000428463 ENSP00000429900 ENSP00000429829 ENSP00000430588

ENSP00000428936 ENSP00000428629 ENSP00000429614 ENSP00000430917 ENSP00000350297

Human Recombinant Protein Products for ASAP1:

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	Uscn Proteins for ASAP1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0016020	membrane	IEA	--

ASAP1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ASAP1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ASAP1 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR001849 Pleckstrin_homology

IPR001164 ArfGAP

IPR001452 SH3_domain

IPR020683 Ankyrin_rpt-contain_dom

IPR011993 PH_like_dom

Graphical View of Domain Structure for InterPro Entry Q9ULH1

ProtoNet protein and cluster: Q9ULH1

4 Blocks protein families:

IPB001164 HIV Rev interacting protein signature

IPB001452 SH3 domain signature

IPB001849 Pleckstrin-like

IPB002110 Ankyrin repeat signature

UniProtKB/Swiss-Prot: ASAP1_HUMAN, Q9ULH1

Domain: The PH domain most probably contributes to the phosphoinositide-dependent regulation of ADP ribosylation

factors (By similarity)

Similarity: Contains 2 ANK repeats

Similarity: Contains 1 Arf-GAP domain

Similarity: Contains 1 PH domain

Similarity: Contains 1 SH3 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ASAP1_HUMAN, Q9ULH1

Function: Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADP

ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with cell

growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal transduction protein

involved in the differentiation of fibroblasts into adipocytes and possibly other cell types (By similarity). Plays a

role in ciliogenesis

Enzyme regulation: Activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2) (By similarity)

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--
GO:0005543	phospholipid binding	IEA	--
GO:0008060	ARF GTPase activator activity	IEA	--
GO:0008093	cytoskeletal adaptor activity	--	--
GO:0008270	zinc ion binding	IEA	--

ASAP1 for ontologies About GeneDecksing

Phenotypes:
4 GenomeRNAi human phenotypes for ASAP1:

Decreased NANOG protein expres

Decreased OCT4 protein express

Decreased POU5F1-GFP protein e

Stronger migration

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ASAP1

miRNA Products:		OriGene 3'-UTR Clone: ASAP1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASAP1
		8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate ASAP1 (see all 34):
		hsa-miR-3607-3p hsa-miR-520e hsa-miR-302d hsa-miR-128 hsa-miR-218 hsa-miR-372 hsa-miR-23a hsa-miR-302b

		SwitchGear 3'UTR luciferase reporter plasmid: ASAP1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASAP1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

EGFR1 Signaling Pathway

EGFR1 Signaling Pathway

1.00

Signaling events mediated by focal adhesion kinase

Signaling events mediated by focal adhesion kinase

1.00

Fc gamma R-mediated phagocytosis

Fc gamma R-mediated phagocytosis

1.00

Endocytosis

Endocytosis

1.00

Arf1 pathway

Arf1 pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 BioSystems Pathways for ASAP1

	EGFR1 Signaling Pathway
	Signaling events mediated by focal adhesion kinase
	Arf1 pathway

2 Kegg Pathways (Kegg details for ASAP1):

	Endocytosis
	Fc gamma R-mediated phagocytosis

ASAP1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ASAP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/49 Interacting proteins for ASAP1 (Q9ULH1^{1, 2, 3} ENSP00000350297⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 49)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SH3KBP1	Q96B97²^,³, ENSP00000380921⁴	MINT-8109719 MINT-4299909 MINT-4299861 MINT-8109706 MINT-4299808 MINT-4299822 MINT-4300027 MINT-8109732 I2D: score=3 STRING: ENSP00000380921
FYN	P06241¹^,²^,³, ENSP00000357656⁴	EBI-346622,EBI-2561531 MINT-7145736 MINT-8111103 I2D: score=3 STRING: ENSP00000357656
PLCG1	P19174¹^,²^,³, ENSP00000244007⁴	EBI-346622,EBI-79387 MINT-8112423 I2D: score=3 STRING: ENSP00000244007
CTTN	Q14247²^,³, ENSP00000301843⁴	MINT-7145534 MINT-7145594 MINT-7145426 MINT-7145630 MINT-7145519 MINT-7145575 I2D: score=1 STRING: ENSP00000301843
ARF1	P84077²^,³, ENSP00000272102⁴	MINT-68737 MINT-68738 I2D: score=2 STRING: ENSP00000272102

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	--	--
GO:0032312	regulation of ARF GTPase activity	IEA	--
GO:0046847	filopodium assembly	--	--
GO:0060271	cilium morphogenesis	IMP	--

ASAP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ASAP1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ASAP1

10/379 HMDB Compounds for ASAP1 (see all 379) About this table

Compound	Synonyms	CAS #	PubMed Ids
PI(16:0/16:0)	Phosphatidylinositol(32:0) (see all 8)	--	--
PI(16:0/16:1(9Z))	Phosphatidylinositol(32:1) (see all 14)	--	--
PI(16:0/16:2(9Z,12Z))	Phosphatidylinositol(16:0/16:2n4) (see all 18)	--	--
PI(16:0/18:0)	Phosphatidylinositol(16:0/18:0) (see all 8)	--	--
PI(16:0/18:1(11Z))	Phosphatidylinositol(16:0/18:1w7) (see all 14)	--	--
PI(16:0/18:1(9Z))	Phosphatidylinositol(16:0/18:1) (see all 14)	--	--
PI(16:0/18:2(9Z,12Z))	PIno(16:0/18:2) (see all 14)	--	--
PI(16:0/20:0)	PI(16:0/20:0) (see all 8)	--	--
PI(16:0/20:2(11Z,14Z))	Phosphatidylinositol(16:0/20:2n6) (see all 14)	--	--
PI(16:0/20:3(5Z,8Z,11Z))	Phosphatidylinositol(36:3) (see all 14)	--	--

2 Novoseek chemical compound relationships for ASAP1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gtp	70.6	6	15632162 (2), 15212764 (1), 17112341 (1), 17253781 (1) (see all 5)
tyrosine	16.1	12	16413287 (4), 9819391 (3), 17893324 (1), 10725410 (1)

Search CenterWatch for drugs/clinical trials and news about ASAP1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ASAP1 gene (2 alternative transcripts):

NM_001247996.1 NM_018482.3

Unigene Cluster for ASAP1:

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

Hs.655552 [show with all ESTs]

Unigene Representative Sequence: NM_001247996

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000524124 ENST00000521075 ENST00000518721 ENST00000519483 ENST00000520189

ENST00000521057 ENST00000524018 ENST00000524367 ENST00000519169 ENST00000520342

ENST00000520927 ENST00000518957 ENST00000524299 ENST00000521426 ENST00000520625

ENST00000357668(uc003ysz.2 uc011liw.2 uc003yta.2)

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		hsa-miR-3607-3p hsa-miR-520e hsa-miR-302d hsa-miR-128 hsa-miR-218 hsa-miR-372 hsa-miR-23a hsa-miR-302b

		SwitchGear 3'UTR luciferase reporter plasmid: ASAP1 3' UTR sequence

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Additional cDNA sequence:

AB033075.1 AF222859.1 AK056811.1 AK314695.1 BC020631.1 BC070268.1 BC105978.1 BC137135.1

BC144493.1 BX537768.1

13 DOTS entries:

DT.113893 DT.95154575 DT.101974310 DT.120637740 DT.40130139 DT.100790873 DT.100790874 DT.97814682

DT.120637694 DT.95199024 DT.95258637 DT.91649188 DT.99942733

24/251 AceView cDNA sequences (see all 251):

AI174506 Z43336 BG118567 BQ478259 N23714 BC070268 AA253246 AI087345

BQ646111 AI129285 BU077895 AL703498 CA424597 AI494058 BM129789 AA863045

AW298197 AA777550 AI492976 CA448666 CB111566 BM511023 AA805215 AA256831

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ASAP1 (see all 7) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19a	·	19b	·	19c	^	20	^	21	^	22	^	23a	·	23b	^
SP1:																																					-														-
SP2:																																																			-
SP3:							-
SP4:
SP5:

ExUns:	24a	·	24b	·	24c	^	25	^	26	^	27	^	28a	·	28b	^	29	^	30
SP1:	-
SP2:	-						-
SP3:
SP4:
SP5:							-

ECgene alternative splicing isoforms for ASAP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ASAP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTTTAATGT

About this image
See ASAP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ASAP1

SOURCE GeneReport for Unigene cluster: Hs.655552
SABiosciences Custom PCR Arrays for ASAP1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ASAP1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASAP1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASAP1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ASAP1 gene from 6/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ASAP1¹	ArfGAP with SH3 domain, ankyrin repeat and PH domain more	82.36(n) 91.92(a)		428385 XM_425945.3 XP_425945.3
lizard (Anolis carolinensis)	Reptilia	ASAP1⁶	--	88(a)	1 ↔ 1	4(3796532-3870168)
zebrafish (Danio rerio)	Actinopterygii	asap2¹	ArfGAP with SH3 domain, ankyrin repeat and PH domain more	69.78(n) 79.02(a)		565859 XM_003201278.1 XP_003201326.1
fruit fly (Drosophila melanogaster)	Insecta	CG30372¹	CG30372	49.54(n) 45.13(a)		35783 NM_001014504.2 NP_001014504.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AGD4⁶ AGD2⁶ (see all 4)	ADP-ribosylation factor GTPase-activating protein ... ADP-ribosylation factor GTPase-activating protein ... (see all 4)	19(a) 19(a) (see all 4)	many ↔ many many ↔ many (see all 4)	1(3616610-3623758) 1(22400927-22407777)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	SFC, putative, expressed ARF GTPase-activating domain-containing protein, p... (see all 3)	19(a) 19(a) (see all 3)	many ↔ many many ↔ many (see all 3)	8(26868563-26877272) 2(25323314-25336072)

ENSEMBL Gene Tree for ASAP1 (if available)
TreeFam Gene Tree for ASAP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ASAP1 gene

AGAP5² AGAP6² ACAP2² ARAP3² GIT2² ACAP3² ARAP1² ASAP2²

AGAP3² GIT1² ARAP2² AGAP2² AGAP4² AGAP1² AGAP8² ACAP1²

AGAP7² AGAP10² AGAP9² ASAP3²

12 SIMAP similar genes for ASAP1 using alignment to 9 protein entries: ASAP1_HUMAN (see all proteins):

DDEF2 ASAP3 ASAP2 SH3GL2 ARFGAP2 ARFGAP3

ITSN2 ARFGAP1 SMAP1 ARHGEF7 CENTG2 SORBS3

ASAP1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs189435996^1,2		--	131063858(+)	`ATTTAC/TAAGCC`	2	--	ds500¹		0	--	--	--	--
rs181316930^1,2		--	131063862(+)	`ACAAGC/GCACAT`	2	--	ds500¹		0	--	--	--	--
rs185404888^1,2		--	131063891(+)	`AATGCC/TTCTGA`	2	--	ds500¹		0	--	--	--	--
rs74786617^1,2	F	--	131063968(+)	`GGTTAA/GTGCAG`	2	--	ds500¹		3		WA NA EA	358
rs79748298^1,2	F	--	131063985(+)	`TGCCTG/AGGCCA`	2	--	ds500¹		3		WA NA EA	358
rs147063475^1,2		--	131064113(+)	`CGGGCG/TCACAA`	2	--	ds500¹		0	--	--	--	--
rs6470796^1,2	C,F,A,H	--	131064299(+)	`ATTCTC/TTCCTG`	2	--	ds500¹		27		NS EA NA WA CSA	2778
rs199631667^1,2		--	131064870(+)	`ACTAG-/AAAAAA`	2	--	ut3¹		0	--	--	--	--
rs199768413^1,2		--	131064984(+)	`TGTTT-/TTGTTTTT`	2	--	ut3¹		0	--	--	--	--
rs201207695^1,2		--	131064985(+)	`GTTTT-/TGTTTTT`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ASAP1 (131064353 - 131314353 bp, first 250kb of ASAP1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ASAP1
1 CNV: 70433

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ASAP1 for disorders           About GeneDecksing

OMIM gene information: 605953    OMIM disorders: --

10 diseases for ASAP1:    About MalaCards

wiskott-aldrich syndrome adenomatous polyposis coli multiple sclerosis polyposis

gout prostate cancer breast cancer prostatitis

melanoma malaria

1 Novoseek disease relationship for ASAP1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cancer	0	4	20154719 (2), 18400762 (1), 15897555 (1)

Export disorders for ASAP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ASAP1 gene, integrated from 9 sources (see all 61):
(articles sorted by number of sources associating them with ASAP1)

Utopia: connect your pdf to the dynamic
world of online information

ASAP1, a phospholipid-dependent arf GTPase-activating protein that associates with and is phosphorylated by Src. (PubMed id 9819391)^{1, 2, 3, 9} Brown M.T....Randazzo P.A. (1998)
Targeting AMAP1 and cortactin binding bearing an atypical src homology 3/proline interface for prevention of breast cancer invasion and metastasis. (PubMed id 16636290)^{1, 2, 9} Hashimoto S....Sabe H. (2006)
DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)^{1, 2} Nusbaum C....Lander E.S. (2006)
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. (PubMed id 10574462)^{1, 2} Nagase T.... Ohara O. (1999)
Src-dependent phosphorylation of ASAP1 regulates podosomes. (PubMed id 17893324)^{1, 9} Bharti S....Randazzo P.A. (2007)
CrkL directs ASAP1 to peripheral focal adhesions. (PubMed id 12522101)^{1, 9} Oda A....Randazzo P. (2003)
ASAP1 promotes tumor cell motility and invasiveness, stimulates metastasis formation in vivo, and correlates with poor survival in c olorectal cancer patients. (PubMed id 20154719)^{1, 9} MA1ller T....Sleeman J.P. (2010)
Interaction of POB1, a downstream molecule of small G protein Ral, with PAG2, a paxillin-binding protein, is involved in cell migration. (PubMed id 12149250)^{1, 9} Oshiro T....Kikuchi A. (2002)
ASAP1, a gene at 8q24, is associated with prostate cancer metastasis. (PubMed id 18519696)^{1, 9} Lin D....Wang Y.Z. (2008)
DDEF1 is located in an amplified region of chromosome 8q and is overexpressed in uveal melanoma. (PubMed id 15897555)^{1, 9} Ehlers J.P....Harbour J.W. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 50807	HGNC: 2720	AceView: DDEF1	Ensembl:ENSG00000153317	euGenes: HUgn50807
ECgene: ASAP1	Kegg: 50807	H-InvDB: ASAP1

(According to HUGE)
About This Section

HUGE: KIAA1249

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ASAP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ASAP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ASAP1 gene:
Search GeneIP for patents involving ASAP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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ASAP1 Gene

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

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ASAP1 (Gene Symbol)
ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 1
DDEF1
CENTB4
PAP
ZG14P
KIAA1249
Development And Differentiation-Enhancing Factor 1
130 KDa Phosphatidylinositol 4,5-Bisphosphate-Dependent ARF1 GTPase-Activating Protein
DEF-1
ADP-Ribosylation Factor-Directed GTPase-Activating Protein 1
ARF GTPase-Activating Protein 1
PIP2-Dependent ARF1 GAP
Development And Differentiation Enhancing Factor 1
130 KDa Phosphatidylinositol 4,5-Biphosphate-Dependent ARF1 GTPase-Activating Protein
AMAP1
PAG2
Arf-GAP With SH3 Domain, ANK Repeat And PH Domain-Containing Protein 1
Centaurin, Beta 4
Differentiation-Enhancing Factor 1

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ASAP1 Gene

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

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