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Protein

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

Gene

ASAP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.By similarity1 Publication

Enzyme regulationi

Activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri454 – 477C4-typePROSITE-ProRule annotationAdd BLAST24

GO - Molecular functioni

GO - Biological processi

  • cilium morphogenesis Source: UniProtKB
  • negative regulation of dendritic spine development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Keywords - Biological processi

Cilium biogenesis/degradation

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000153317-MONOMER.
ReactomeiR-HSA-5620916. VxPx cargo-targeting to cilium.

Names & Taxonomyi

Protein namesi
Recommended name:
Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1
Alternative name(s):
130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein
ADP-ribosylation factor-directed GTPase-activating protein 1
Short name:
ARF GTPase-activating protein 1
Development and differentiation-enhancing factor 1
Short name:
DEF-1
Short name:
Differentiation-enhancing factor 1
PIP2-dependent ARF1 GAP
Gene namesi
Name:ASAP1
Synonyms:DDEF1, KIAA1249
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:2720. ASAP1.

Subcellular locationi

  • Cytoplasm By similarity
  • Membrane By similarity

  • Note: Predominantly cytoplasmic. Partially membrane-associated.By similarity

GO - Cellular componenti

  • cell-cell adherens junction Source: BHF-UCL
  • cytosol Source: Reactome
  • dendritic spine Source: Ensembl
  • membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi50807.
OpenTargetsiENSG00000153317.
PharmGKBiPA164716055.

Chemistry databases

ChEMBLiCHEMBL2146311.

Polymorphism and mutation databases

BioMutaiASAP1.
DMDMi296439459.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000741961 – 1129Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1Add BLAST1129

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei717PhosphoserineCombined sources1
Modified residuei726PhosphoserineBy similarity1
Modified residuei839PhosphoserineCombined sources1
Modified residuei843PhosphoserineCombined sources1
Modified residuei1008PhosphoserineCombined sources1
Modified residuei1027PhosphoserineCombined sources1
Modified residuei1041PhosphoserineCombined sources1
Modified residuei1048PhosphothreonineBy similarity1
Modified residuei1128PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated on tyrosine residues by SRC.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9ULH1.
PaxDbiQ9ULH1.
PeptideAtlasiQ9ULH1.
PRIDEiQ9ULH1.

PTM databases

iPTMnetiQ9ULH1.
PhosphoSitePlusiQ9ULH1.

Expressioni

Gene expression databases

BgeeiENSG00000153317.
CleanExiHS_ASAP1.
ExpressionAtlasiQ9ULH1. baseline and differential.
GenevisibleiQ9ULH1. HS.

Organism-specific databases

HPAiCAB037292.
HPA048565.

Interactioni

Subunit structurei

Homodimer. Interacts with SRC and CRK. Interacts with RAB11FIP3. Interacts with PTK2B/PYK2 (By similarity). Interacts with CTTN. Interacts (via SH3 domain) with APC.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
apcP700395EBI-346622,EBI-8069633From a different organism.
CBLBQ131912EBI-346622,EBI-744027
CRKP461082EBI-346622,EBI-886
CTTNQ142477EBI-346622,EBI-351886
FYNP062413EBI-346622,EBI-515315
GRB2P629937EBI-346622,EBI-401755
HCKP086312EBI-346622,EBI-346340
NCK1P163336EBI-346622,EBI-389883
PLCG1P191743EBI-346622,EBI-79387
SH3KBP1Q96B978EBI-346622,EBI-346595
SRCP129313EBI-346622,EBI-621482
UBCP0CG482EBI-346622,EBI-3390054

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL

Protein-protein interaction databases

BioGridi119126. 26 interactors.
IntActiQ9ULH1. 29 interactors.
MINTiMINT-243352.
STRINGi9606.ENSP00000350297.

Chemistry databases

BindingDBiQ9ULH1.

Structurei

Secondary structure

11129
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi327 – 334Combined sources8
Beta strandi336 – 338Combined sources3
Beta strandi342 – 350Combined sources9
Beta strandi353 – 356Combined sources4
Beta strandi366 – 369Combined sources4
Turni370 – 372Combined sources3
Beta strandi373 – 377Combined sources5
Beta strandi379 – 383Combined sources5
Beta strandi385 – 389Combined sources5
Beta strandi392 – 397Combined sources6
Helixi401 – 419Combined sources19
Beta strandi1070 – 1076Combined sources7
Beta strandi1081 – 1085Combined sources5
Beta strandi1093 – 1098Combined sources6
Beta strandi1101 – 1109Combined sources9
Beta strandi1116 – 1120Combined sources5
Helixi1121 – 1123Combined sources3
Beta strandi1124 – 1126Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D1XX-ray1.90P/Q823-837[»]
2DA0NMR-A323-423[»]
2ED1NMR-A1067-1129[»]
2RQTNMR-A1069-1129[»]
2RQUNMR-A1069-1129[»]
ProteinModelPortaliQ9ULH1.
SMRiQ9ULH1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9ULH1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini324 – 416PHPROSITE-ProRule annotationAdd BLAST93
Domaini439 – 560Arf-GAPPROSITE-ProRule annotationAdd BLAST122
Repeati600 – 632ANK 1Add BLAST33
Repeati636 – 665ANK 2Add BLAST30
Domaini1067 – 1129SH3PROSITE-ProRule annotationAdd BLAST63

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi783 – 993Pro-richAdd BLAST211

Domaini

The PH domain most probably contributes to the phosphoinositide-dependent regulation of ADP ribosylation factors.By similarity

Sequence similaritiesi

Contains 2 ANK repeats.PROSITE-ProRule annotation
Contains 1 Arf-GAP domain.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation
Contains 1 SH3 domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri454 – 477C4-typePROSITE-ProRule annotationAdd BLAST24

Keywords - Domaini

ANK repeat, Repeat, SH3 domain, Zinc-finger

Phylogenomic databases

eggNOGiKOG0521. Eukaryota.
COG5347. LUCA.
GeneTreeiENSGT00760000118874.
HOGENOMiHOG000230570.
HOVERGENiHBG051327.
InParanoidiQ9ULH1.
KOiK12488.
OMAiPWGNDGG.
OrthoDBiEOG091G022H.
PhylomeDBiQ9ULH1.
TreeFamiTF325156.

Family and domain databases

Gene3Di1.20.1270.60. 1 hit.
1.25.40.20. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR027267. AH/BAR-dom.
IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001164. ArfGAP.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
PF01412. ArfGap. 1 hit.
PF00169. PH. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
PRINTSiPR00405. REVINTRACTNG.
SMARTiSM00248. ANK. 2 hits.
SM00105. ArfGap. 1 hit.
SM00233. PH. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
SSF50044. SSF50044. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 1 hit.
PS50115. ARFGAP. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 2 (identifier: Q9ULH1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRSSASRLSS FSSRDSLWNR MPDQISVSEF IAETTEDYNS PTTSSFTTRL
60 70 80 90 100
HNCRNTVTLL EEALDQDRTA LQKVKKSVKA IYNSGQDHVQ NEENYAQVLD
110 120 130 140 150
KFGSNFLSRD NPDLGTAFVK FSTLTKELST LLKNLLQGLS HNVIFTLDSL
160 170 180 190 200
LKGDLKGVKG DLKKPFDKAW KDYETKFTKI EKEKREHAKQ HGMIRTEITG
210 220 230 240 250
AEIAEEMEKE RRLFQLQMCE YLIKVNEIKT KKGVDLLQNL IKYYHAQCNF
260 270 280 290 300
FQDGLKTADK LKQYIEKLAA DLYNIKQTQD EEKKQLTALR DLIKSSLQLD
310 320 330 340 350
QKEDSQSRQG GYSMHQLQGN KEYGSEKKGY LLKKSDGIRK VWQRRKCSVK
360 370 380 390 400
NGILTISHAT SNRQPAKLNL LTCQVKPNAE DKKSFDLISH NRTYHFQAED
410 420 430 440 450
EQDYVAWISV LTNSKEEALT MAFRGEQSAG ENSLEDLTKA IIEDVQRLPG
460 470 480 490 500
NDICCDCGSS EPTWLSTNLG ILTCIECSGI HREMGVHISR IQSLELDKLG
510 520 530 540 550
TSELLLAKNV GNNSFNDIME ANLPSPSPKP TPSSDMTVRK EYITAKYVDH
560 570 580 590 600
RFSRKTCSTS SAKLNELLEA IKSRDLLALI QVYAEGVELM EPLLEPGQEL
610 620 630 640 650
GETALHLAVR TADQTSLHLV DFLVQNCGNL DKQTALGNTV LHYCSMYSKP
660 670 680 690 700
ECLKLLLRSK PTVDIVNQAG ETALDIAKRL KATQCEDLLS QAKSGKFNPH
710 720 730 740 750
VHVEYEWNLR QEEIDESDDD LDDKPSPIKK ERSPRPQSFC HSSSISPQDK
760 770 780 790 800
LALPGFSTPR DKQRLSYGAF TNQIFVSTST DSPTSPTTEA PPLPPRNAGK
810 820 830 840 850
GPTGPPSTLP LSTQTSSGSS TLSKKRPPPP PPGHKRTLSD PPSPLPHGPP
860 870 880 890 900
NKGAVPWGND GGPSSSSKTT NKFEGLSQQS STSSAKTALG PRVLPKLPQK
910 920 930 940 950
VALRKTDHLS LDKATIPPEI FQKSSQLAEL PQKPPPGDLP PKPTELAPKP
960 970 980 990 1000
QIGDLPPKPG ELPPKPQLGD LPPKPQLSDL PPKPQMKDLP PKPQLGDLLA
1010 1020 1030 1040 1050
KSQTGDVSPK AQQPSEVTLK SHPLDLSPNV QSRDAIQKQA SEDSNDLTPT
1060 1070 1080 1090 1100
LPETPVPLPR KINTGKNKVR RVKTIYDCQA DNDDELTFIE GEVIIVTGEE
1110 1120
DQEWWIGHIE GQPERKGVFP VSFVHILSD
Length:1,129
Mass (Da):125,498
Last modified:May 18, 2010 - v4
Checksum:i7F54B22015638D55
GO
Isoform 1 (identifier: Q9ULH1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     303-303: E → ESRR

Show »
Length:1,132
Mass (Da):125,897
Checksum:iA0440C36242D033C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055528728I → V.Corresponds to variant rs966185dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008365303E → ESRR in isoform 1. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC009682 Genomic DNA. No translation available.
AC103725 Genomic DNA. No translation available.
AC131568 Genomic DNA. No translation available.
AC139019 Genomic DNA. No translation available.
CH471060 Genomic DNA. Translation: EAW92130.1.
BC137135 mRNA. Translation: AAI37136.1.
BX537768 mRNA. Translation: CAD97831.1.
AB033075 mRNA. Translation: BAA86563.1.
CCDSiCCDS6362.1. [Q9ULH1-1]
RefSeqiNP_001234925.1. NM_001247996.1.
NP_060952.2. NM_018482.3. [Q9ULH1-1]
XP_005250982.1. XM_005250925.1. [Q9ULH1-2]
XP_006716626.1. XM_006716563.3. [Q9ULH1-2]
XP_011515354.1. XM_011517052.2. [Q9ULH1-2]
UniGeneiHs.655552.

Genome annotation databases

EnsembliENST00000518721; ENSP00000429900; ENSG00000153317. [Q9ULH1-1]
GeneIDi50807.
KEGGihsa:50807.
UCSCiuc003yta.3. human. [Q9ULH1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC009682 Genomic DNA. No translation available.
AC103725 Genomic DNA. No translation available.
AC131568 Genomic DNA. No translation available.
AC139019 Genomic DNA. No translation available.
CH471060 Genomic DNA. Translation: EAW92130.1.
BC137135 mRNA. Translation: AAI37136.1.
BX537768 mRNA. Translation: CAD97831.1.
AB033075 mRNA. Translation: BAA86563.1.
CCDSiCCDS6362.1. [Q9ULH1-1]
RefSeqiNP_001234925.1. NM_001247996.1.
NP_060952.2. NM_018482.3. [Q9ULH1-1]
XP_005250982.1. XM_005250925.1. [Q9ULH1-2]
XP_006716626.1. XM_006716563.3. [Q9ULH1-2]
XP_011515354.1. XM_011517052.2. [Q9ULH1-2]
UniGeneiHs.655552.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D1XX-ray1.90P/Q823-837[»]
2DA0NMR-A323-423[»]
2ED1NMR-A1067-1129[»]
2RQTNMR-A1069-1129[»]
2RQUNMR-A1069-1129[»]
ProteinModelPortaliQ9ULH1.
SMRiQ9ULH1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119126. 26 interactors.
IntActiQ9ULH1. 29 interactors.
MINTiMINT-243352.
STRINGi9606.ENSP00000350297.

Chemistry databases

BindingDBiQ9ULH1.
ChEMBLiCHEMBL2146311.

PTM databases

iPTMnetiQ9ULH1.
PhosphoSitePlusiQ9ULH1.

Polymorphism and mutation databases

BioMutaiASAP1.
DMDMi296439459.

Proteomic databases

EPDiQ9ULH1.
PaxDbiQ9ULH1.
PeptideAtlasiQ9ULH1.
PRIDEiQ9ULH1.

Protocols and materials databases

DNASUi50807.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000518721; ENSP00000429900; ENSG00000153317. [Q9ULH1-1]
GeneIDi50807.
KEGGihsa:50807.
UCSCiuc003yta.3. human. [Q9ULH1-1]

Organism-specific databases

CTDi50807.
DisGeNETi50807.
GeneCardsiASAP1.
H-InvDBHIX0007806.
HGNCiHGNC:2720. ASAP1.
HPAiCAB037292.
HPA048565.
MIMi605953. gene.
neXtProtiNX_Q9ULH1.
OpenTargetsiENSG00000153317.
PharmGKBiPA164716055.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0521. Eukaryota.
COG5347. LUCA.
GeneTreeiENSGT00760000118874.
HOGENOMiHOG000230570.
HOVERGENiHBG051327.
InParanoidiQ9ULH1.
KOiK12488.
OMAiPWGNDGG.
OrthoDBiEOG091G022H.
PhylomeDBiQ9ULH1.
TreeFamiTF325156.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000153317-MONOMER.
ReactomeiR-HSA-5620916. VxPx cargo-targeting to cilium.

Miscellaneous databases

ChiTaRSiASAP1. human.
EvolutionaryTraceiQ9ULH1.
GeneWikiiDDEF1.
GenomeRNAii50807.
PROiQ9ULH1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000153317.
CleanExiHS_ASAP1.
ExpressionAtlasiQ9ULH1. baseline and differential.
GenevisibleiQ9ULH1. HS.

Family and domain databases

Gene3Di1.20.1270.60. 1 hit.
1.25.40.20. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR027267. AH/BAR-dom.
IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001164. ArfGAP.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
PF01412. ArfGap. 1 hit.
PF00169. PH. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
PRINTSiPR00405. REVINTRACTNG.
SMARTiSM00248. ANK. 2 hits.
SM00105. ArfGap. 1 hit.
SM00233. PH. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
SSF50044. SSF50044. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 1 hit.
PS50115. ARFGAP. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiASAP1_HUMAN
AccessioniPrimary (citable) accession number: Q9ULH1
Secondary accession number(s): B2RNV3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 157 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.