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UniProtKB - Q9UPQ3 (AGAP1_HUMAN)

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Protein

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

Gene

AGAP1

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

Functioni

GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system.1 Publication

Enzyme regulationi

GAP activity stimulated by phosphatidylinositol 3,4,5-trisphosphate (PIP3) and, to a lesser extent, by phosphatidylinositol 4,5-bisphosphate (PIP2). Phosphatidic acid potentiates PIP2 stimulation.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi78 – 85GTPSequence analysis8
Nucleotide bindingi122 – 126GTPSequence analysis5
Nucleotide bindingi178 – 181GTPSequence analysis4
Zinc fingeri624 – 647C4-typePROSITE-ProRule annotationAdd BLAST24

GO - Molecular functioni

  • GTPase activator activity Source: UniProtKB-KW
  • GTPase activity Source: InterPro
  • GTP binding Source: UniProtKB-KW
  • metal ion binding Source: UniProtKB-KW
  • phospholipid binding Source: FlyBase
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionGTPase activation
Biological processProtein transport, Transport
LigandGTP-binding, Metal-binding, Nucleotide-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1
Short name:
AGAP-1
Alternative name(s):
Centaurin-gamma-2
Short name:
Cnt-g2
GTP-binding and GTPase-activating protein 1
Short name:
GGAP1
Gene namesi
Name:AGAP1
Synonyms:CENTG2, KIAA1099
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000157985.18
HGNCiHGNC:16922 AGAP1
MIMi608651 gene
neXtProtiNX_Q9UPQ3

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi647C → S: Loss of GAP activity. 1 Publication1
Mutagenesisi652R → K: Loss of GAP activity. No effect on AP-3-binding. 1 Publication1

Organism-specific databases

DisGeNETi116987
OpenTargetsiENSG00000157985
PharmGKBiPA26412

Polymorphism and mutation databases

BioMutaiAGAP1
DMDMi160332373

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000742181 – 857Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1Add BLAST857

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei521PhosphoserineCombined sources1
Modified residuei605PhosphoserineCombined sources1
Modified residuei663PhosphoserineBy similarity1
Modified residuei836PhosphothreonineCombined sources1

Post-translational modificationi

Phosphorylated on tyrosines.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

PaxDbiQ9UPQ3
PeptideAtlasiQ9UPQ3
PRIDEiQ9UPQ3
ProteomicsDBi85411
85412 [Q9UPQ3-2]
85413 [Q9UPQ3-3]

PTM databases

iPTMnetiQ9UPQ3
PhosphoSitePlusiQ9UPQ3

Expressioni

Tissue specificityi

Widely expressed.4 Publications

Gene expression databases

BgeeiENSG00000157985
CleanExiHS_AGAP1
ExpressionAtlasiQ9UPQ3 baseline and differential
GenevisibleiQ9UPQ3 HS

Organism-specific databases

HPAiHPA051405

Interactioni

Subunit structurei

Homodimer. Interacts with several subunits of the AP-3 protein complex: AP3M1, AP3S1 and AP3S2. Interacts with GUCY1A3 and GUCY1B3.2 Publications

Protein-protein interaction databases

BioGridi125550, 75 interactors
IntActiQ9UPQ3, 7 interactors
MINTiQ9UPQ3
STRINGi9606.ENSP00000307634

Structurei

3D structure databases

ProteinModelPortaliQ9UPQ3
SMRiQ9UPQ3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini346 – 588PHPROSITE-ProRule annotationAdd BLAST243
Domaini609 – 729Arf-GAPPROSITE-ProRule annotationAdd BLAST121
Repeati768 – 797ANK 1Add BLAST30
Repeati801 – 830ANK 2Add BLAST30

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni66 – 276Small GTPase-likeAdd BLAST211

Domaini

The PH domain mediates AP-3 binding.

Sequence similaritiesi

Belongs to the centaurin gamma-like family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri624 – 647C4-typePROSITE-ProRule annotationAdd BLAST24

Keywords - Domaini

ANK repeat, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG0705 Eukaryota
COG5347 LUCA
GeneTreeiENSGT00760000118874
HOGENOMiHOG000007233
HOVERGENiHBG054045
InParanoidiQ9UPQ3
KOiK12491
OMAiDCDTQNP
PhylomeDBiQ9UPQ3
TreeFamiTF317762

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 1 hit
2.30.29.30, 2 hits
3.30.40.160, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR037278 ARFGAP/RecO
IPR001164 ArfGAP_dom
IPR038508 ArfGAP_dom_sf
IPR027417 P-loop_NTPase
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR001806 Small_GTPase
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF01412 ArfGap, 1 hit
PF00071 Ras, 1 hit
PRINTSiPR00405 REVINTRACTNG
SMARTiView protein in SMART
SM00248 ANK, 2 hits
SM00105 ArfGap, 1 hit
SM00233 PH, 1 hit
SUPFAMiSSF48403 SSF48403, 1 hit
SSF52540 SSF52540, 1 hit
SSF57863 SSF57863, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 1 hit
PS50115 ARFGAP, 1 hit
PS50003 PH_DOMAIN, 1 hit
PS51419 RAB, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UPQ3-1) [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
MNYQQQLANS AAIRAEIQRF ESVHPNIYSI YELLERVEEP VLQNQIREHV 
        60         70         80         90        100
IAIEDAFVNS QEWTLSRSVP ELKVGIVGNL ASGKSALVHR YLTGTYVQEE 
       110        120        130        140        150
SPEGGRFKKE IVVDGQSYLL LIRDEGGPPE AQFAMWVDAV IFVFSLEDEI 
       160        170        180        190        200
SFQTVYHYYS RMANYRNTSE IPLVLVGTQD AISSANPRVI DDARARKLSN 
       210        220        230        240        250
DLKRCTYYET CATYGLNVER VFQDVAQKIV ATRKKQQLSI GPCKSLPNSP 
       260        270        280        290        300
SHSSVCSAQV SAVHISQTSN GGGSLSDYSS SVPSTPSTSQ KELRIDVPPT 
       310        320        330        340        350
ANTPTPVRKQ SKRRSNLFTS RKGSDPDKEK KGLESRADSI GSGRAIPIKQ 
       360        370        380        390        400
GMLLKRSGKS LNKEWKKKYV TLCDNGVLTY HPSLHDYMQN VHGKEIDLLR 
       410        420        430        440        450
TTVKVPGKRP PRATSACAPI SSPKTNGLSK DMSSLHISPN SGNVTSASGS 
       460        470        480        490        500
QMASGISLVS FNSRPDGMHQ RSYSVSSADQ WSEATVIANS AISSDTGLGD 
       510        520        530        540        550
SVCSSPSISS TTSPKLDPPP SPHANRKKHR RKKSTSNFKA DGLSGTAEEQ 
       560        570        580        590        600
EENFEFIIVS LTGQTWHFEA TTYEERDAWV QAIESQILAS LQSCESSKNK 
       610        620        630        640        650
SRLTSQSEAM ALQSIRNMRG NSHCVDCETQ NPNWASLNLG ALMCIECSGI 
       660        670        680        690        700
HRNLGTHLSR VRSLDLDDWP VELIKVMSSI GNELANSVWE ESSQGRTKPS 
       710        720        730        740        750
VDSTREEKER WIRAKYEQKL FLAPLPCTEL SLGQHLLRAT ADEDLRTAIL 
       760        770        780        790        800
LLAHGSRDEV NETCGEGDGR TALHLACRKG NVVLAQLLIW YGVDVTARDA 
       810        820        830        840        850
HGNTALAYAR QASSQECIDV LLQYGCPDER FVLMATPNLS RRNNNRNNSS 

GRVPTII
Length:857
Mass (Da):94,470
Last modified:November 13, 2007 - v4
Checksum:iBBFDB8DA0ECD55E8
GO
Isoform 2 (identifier: Q9UPQ3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     442-494: Missing.

Show »
Length:804
Mass (Da):89,066
Checksum:i6014F37974C24A52
GO
Isoform 3 (identifier: Q9UPQ3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     352-405: MLLKRSGKSL...IDLLRTTVKV → LPFFVLALTA...SAQLSGAMMN
     406-857: Missing.

Note: No experimental confirmation available.
Show »
Length:405
Mass (Da):44,512
Checksum:i0B179759420981A9
GO

Sequence cautioni

The sequence AAH60814 differs from that shown. A 4-nucleotides insertion of unknown origin disrupts the reading frame.Curated
The sequence BAA83051 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAA91862 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti288T → I in AAK56506 (PubMed:12640130).Curated1
Sequence conflicti288T → I in AAL04172 (Ref. 2) Curated1
Sequence conflicti288T → I in BAA83051 (PubMed:10470851).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02644682S → G in an autistic patient. 1 Publication1
Natural variantiVAR_026447148D → G1 PublicationCorresponds to variant dbSNP:rs17855721Ensembl.1
Natural variantiVAR_026448671V → I5 PublicationsCorresponds to variant dbSNP:rs2034648Ensembl.1
Natural variantiVAR_026449798R → G in an autistic patient. 1 PublicationCorresponds to variant dbSNP:rs762355360Ensembl.1
Natural variantiVAR_019550829E → K. Corresponds to variant dbSNP:rs15718Ensembl.1
Natural variantiVAR_026450854P → T in a family with an autistic patient. 1 PublicationCorresponds to variant dbSNP:rs368301945Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011181352 – 405MLLKR…TTVKV → LPFFVLALTASTYLRPAGAR ARQSSPWPGPRGGQTSPHCA EGPQSAQLSGAMMN in isoform 3. 1 PublicationAdd BLAST54
Alternative sequenceiVSP_011182406 – 857Missing in isoform 3. 1 PublicationAdd BLAST452
Alternative sequenceiVSP_011183442 – 494Missing in isoform 2. 3 PublicationsAdd BLAST53

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY033765 mRNA Translation: AAK56506.1
AF413078 mRNA Translation: AAL04172.1
AB029022 mRNA Translation: BAA83051.2 Different initiation.
AC012305 Genomic DNA No translation available.
AC019047 Genomic DNA No translation available.
AC064874 Genomic DNA No translation available.
AC073989 Genomic DNA No translation available.
AC079400 Genomic DNA No translation available.
BC060814 mRNA Translation: AAH60814.1 Sequence problems.
BC140856 mRNA Translation: AAI40857.1
AK001722 mRNA Translation: BAA91862.1 Different initiation.
CCDSiCCDS2514.1 [Q9UPQ3-2]
CCDS33408.1 [Q9UPQ3-1]
CCDS58756.1 [Q9UPQ3-3]
RefSeqiNP_001032208.1, NM_001037131.2 [Q9UPQ3-1]
NP_001231817.1, NM_001244888.1 [Q9UPQ3-3]
NP_055729.2, NM_014914.4 [Q9UPQ3-2]
UniGeneiHs.435039

Genome annotation databases

EnsembliENST00000304032; ENSP00000307634; ENSG00000157985 [Q9UPQ3-1]
ENST00000336665; ENSP00000338378; ENSG00000157985 [Q9UPQ3-2]
ENST00000409457; ENSP00000387174; ENSG00000157985 [Q9UPQ3-3]
GeneIDi116987
KEGGihsa:116987
UCSCiuc002vvs.4 human [Q9UPQ3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAGAP1_HUMAN
AccessioniPrimary (citable) accession number: Q9UPQ3
Secondary accession number(s): B2RTX7
, Q541S5, Q6P9D7, Q9NV93
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: November 13, 2007
Last modified: June 20, 2018
This is version 182 of the entry and version 4 of the sequence. See 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. SIMILARITY comments
    Index of protein domains and families

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