UniProtKB - Q9UPQ3 (AGAP1_HUMAN)
Protein
Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1
Gene
AGAP1
Organism
Homo sapiens (Human)
Status
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
Activity 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 78 – 85 | GTPSequence analysis | 8 | |
Nucleotide bindingi | 122 – 126 | GTPSequence analysis | 5 | |
Nucleotide bindingi | 178 – 181 | GTPSequence analysis | 4 | |
Zinc fingeri | 624 – 647 | C4-typePROSITE-ProRule annotationAdd BLAST | 24 |
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
GO - Biological processi
- protein transport Source: UniProtKB-KW
Keywordsi
Molecular function | GTPase activation |
Biological process | Protein transport, Transport |
Ligand | GTP-binding, Metal-binding, Nucleotide-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9UPQ3 |
Names & Taxonomyi
Protein namesi | Recommended name: Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1Short 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:16922, AGAP1 |
MIMi | 608651, gene |
neXtProti | NX_Q9UPQ3 |
VEuPathDBi | HostDB:ENSG00000157985.18 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 2 Publications
Note: Associates with the endocytic compartment.
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 647 | C → S: Loss of GAP activity. 1 Publication | 1 | |
Mutagenesisi | 652 | R → K: Loss of GAP activity. No effect on AP-3-binding. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 116987 |
OpenTargetsi | ENSG00000157985 |
PharmGKBi | PA26412 |
Miscellaneous databases
Pharosi | Q9UPQ3, Tbio |
Genetic variation databases
BioMutai | AGAP1 |
DMDMi | 160332373 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000074218 | 1 – 857 | Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1Add BLAST | 857 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 521 | PhosphoserineCombined sources | 1 | |
Modified residuei | 605 | PhosphoserineCombined sources | 1 | |
Modified residuei | 663 | PhosphoserineBy similarity | 1 | |
Modified residuei | 836 | PhosphothreonineCombined sources | 1 |
Post-translational modificationi
Phosphorylated on tyrosines.1 Publication
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q9UPQ3 |
jPOSTi | Q9UPQ3 |
MassIVEi | Q9UPQ3 |
PaxDbi | Q9UPQ3 |
PeptideAtlasi | Q9UPQ3 |
PRIDEi | Q9UPQ3 |
ProteomicsDBi | 85411 [Q9UPQ3-1] 85412 [Q9UPQ3-2] 85413 [Q9UPQ3-3] |
PTM databases
iPTMneti | Q9UPQ3 |
PhosphoSitePlusi | Q9UPQ3 |
Expressioni
Tissue specificityi
Widely expressed.4 Publications
Gene expression databases
Bgeei | ENSG00000157985, Expressed in cortical plate and 232 other tissues |
ExpressionAtlasi | Q9UPQ3, baseline and differential |
Genevisiblei | Q9UPQ3, HS |
Organism-specific databases
HPAi | ENSG00000157985, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer.
Interacts with several subunits of the AP-3 protein complex: AP3M1, AP3S1 and AP3S2.
Interacts with GUCY1A3 and GUCY1B3.
2 PublicationsBinary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 125550, 87 interactors |
IntActi | Q9UPQ3, 9 interactors |
MINTi | Q9UPQ3 |
STRINGi | 9606.ENSP00000307634 |
Miscellaneous databases
RNActi | Q9UPQ3, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 346 – 588 | PHPROSITE-ProRule annotationAdd BLAST | 243 | |
Domaini | 609 – 729 | Arf-GAPPROSITE-ProRule annotationAdd BLAST | 121 | |
Repeati | 768 – 797 | ANK 1Add BLAST | 30 | |
Repeati | 801 – 830 | ANK 2Add BLAST | 30 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 66 – 276 | Small GTPase-likeAdd BLAST | 211 |
Domaini
The PH domain mediates AP-3 binding.
Sequence similaritiesi
Belongs to the centaurin gamma-like family.Curated
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 624 – 647 | C4-typePROSITE-ProRule annotationAdd BLAST | 24 |
Keywords - Domaini
ANK repeat, Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG0705, Eukaryota |
GeneTreei | ENSGT00940000154793 |
InParanoidi | Q9UPQ3 |
OMAi | QDIPMIL |
OrthoDBi | 751525at2759 |
PhylomeDBi | Q9UPQ3 |
TreeFami | TF317762 |
Family and domain databases
Gene3Di | 1.25.40.20, 1 hit 2.30.29.30, 2 hits 3.30.40.160, 1 hit |
InterProi | View 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 |
Pfami | View protein in Pfam PF12796, Ank_2, 1 hit PF01412, ArfGap, 1 hit PF00071, Ras, 1 hit |
PRINTSi | PR00405, REVINTRACTNG |
SMARTi | View protein in SMART SM00248, ANK, 2 hits SM00105, ArfGap, 1 hit SM00233, PH, 1 hit |
SUPFAMi | SSF48403, SSF48403, 1 hit SSF52540, SSF52540, 1 hit SSF57863, SSF57863, 1 hit |
PROSITEi | View 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 |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9UPQ3-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE7EUN2 | E7EUN2_HUMAN | Arf-GAP with GTPase, ANK repeat and... | AGAP1 | 1,069 | Annotation score: | ||
F5GXM9 | F5GXM9_HUMAN | Arf-GAP with GTPase, ANK repeat and... | AGAP1 | 803 | Annotation score: | ||
A0A087X1U1 | A0A087X1U1_HUMAN | Arf-GAP with GTPase, ANK repeat and... | AGAP1 | 750 | Annotation score: | ||
A0A087X044 | A0A087X044_HUMAN | Arf-GAP with GTPase, ANK repeat and... | AGAP1 | 351 | Annotation score: | ||
H7C0A7 | H7C0A7_HUMAN | Arf-GAP with GTPase, ANK repeat and... | AGAP1 | 276 | Annotation score: | ||
H7C211 | H7C211_HUMAN | Arf-GAP with GTPase, ANK repeat and... | AGAP1 | 253 | Annotation score: | ||
C9J8Z2 | C9J8Z2_HUMAN | Arf-GAP with GTPase, ANK repeat and... | AGAP1 | 117 | Annotation score: | ||
A0A0U1RRF1 | A0A0U1RRF1_HUMAN | Arf-GAP with GTPase, ANK repeat and... | AGAP1 | 108 | Annotation score: |
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. Extended N-terminus.Curated
The sequence BAA91862 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 288 | T → I in AAK56506 (PubMed:12640130).Curated | 1 | |
Sequence conflicti | 288 | T → I in AAL04172 (Ref. 2) Curated | 1 | |
Sequence conflicti | 288 | T → I in BAA83051 (PubMed:10470851).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_026446 | 82 | S → G in an autistic patient. 1 Publication | 1 | |
Natural variantiVAR_026447 | 148 | D → G1 PublicationCorresponds to variant dbSNP:rs17855721Ensembl. | 1 | |
Natural variantiVAR_026448 | 671 | V → I5 PublicationsCorresponds to variant dbSNP:rs2034648Ensembl. | 1 | |
Natural variantiVAR_026449 | 798 | R → G in an autistic patient. 1 PublicationCorresponds to variant dbSNP:rs762355360Ensembl. | 1 | |
Natural variantiVAR_019550 | 829 | E → K. Corresponds to variant dbSNP:rs15718Ensembl. | 1 | |
Natural variantiVAR_026450 | 854 | P → T in a family with an autistic patient. 1 PublicationCorresponds to variant dbSNP:rs368301945Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_011181 | 352 – 405 | MLLKR…TTVKV → LPFFVLALTASTYLRPAGAR ARQSSPWPGPRGGQTSPHCA EGPQSAQLSGAMMN in isoform 3. 1 PublicationAdd BLAST | 54 | |
Alternative sequenceiVSP_011182 | 406 – 857 | Missing in isoform 3. 1 PublicationAdd BLAST | 452 | |
Alternative sequenceiVSP_011183 | 442 – 494 | Missing in isoform 2. 3 PublicationsAdd BLAST | 53 |
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. |
CCDSi | CCDS2514.1 [Q9UPQ3-2] CCDS33408.1 [Q9UPQ3-1] CCDS58756.1 [Q9UPQ3-3] |
RefSeqi | NP_001032208.1, NM_001037131.2 [Q9UPQ3-1] NP_001231817.1, NM_001244888.1 [Q9UPQ3-3] NP_055729.2, NM_014914.4 [Q9UPQ3-2] |
Genome annotation databases
Ensembli | ENST00000304032; ENSP00000307634; ENSG00000157985 [Q9UPQ3-1] ENST00000336665; ENSP00000338378; ENSG00000157985 [Q9UPQ3-2] ENST00000409457; ENSP00000387174; ENSG00000157985 [Q9UPQ3-3] |
GeneIDi | 116987 |
KEGGi | hsa:116987 |
UCSCi | uc002vvs.4, human [Q9UPQ3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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. |
CCDSi | CCDS2514.1 [Q9UPQ3-2] CCDS33408.1 [Q9UPQ3-1] CCDS58756.1 [Q9UPQ3-3] |
RefSeqi | NP_001032208.1, NM_001037131.2 [Q9UPQ3-1] NP_001231817.1, NM_001244888.1 [Q9UPQ3-3] NP_055729.2, NM_014914.4 [Q9UPQ3-2] |
3D structure databases
SMRi | Q9UPQ3 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 125550, 87 interactors |
IntActi | Q9UPQ3, 9 interactors |
MINTi | Q9UPQ3 |
STRINGi | 9606.ENSP00000307634 |
PTM databases
iPTMneti | Q9UPQ3 |
PhosphoSitePlusi | Q9UPQ3 |
Genetic variation databases
BioMutai | AGAP1 |
DMDMi | 160332373 |
Proteomic databases
EPDi | Q9UPQ3 |
jPOSTi | Q9UPQ3 |
MassIVEi | Q9UPQ3 |
PaxDbi | Q9UPQ3 |
PeptideAtlasi | Q9UPQ3 |
PRIDEi | Q9UPQ3 |
ProteomicsDBi | 85411 [Q9UPQ3-1] 85412 [Q9UPQ3-2] 85413 [Q9UPQ3-3] |
Protocols and materials databases
Antibodypediai | 34463, 144 antibodies |
Genome annotation databases
Ensembli | ENST00000304032; ENSP00000307634; ENSG00000157985 [Q9UPQ3-1] ENST00000336665; ENSP00000338378; ENSG00000157985 [Q9UPQ3-2] ENST00000409457; ENSP00000387174; ENSG00000157985 [Q9UPQ3-3] |
GeneIDi | 116987 |
KEGGi | hsa:116987 |
UCSCi | uc002vvs.4, human [Q9UPQ3-1] |
Organism-specific databases
CTDi | 116987 |
DisGeNETi | 116987 |
GeneCardsi | AGAP1 |
HGNCi | HGNC:16922, AGAP1 |
HPAi | ENSG00000157985, Low tissue specificity |
MIMi | 608651, gene |
neXtProti | NX_Q9UPQ3 |
OpenTargetsi | ENSG00000157985 |
PharmGKBi | PA26412 |
VEuPathDBi | HostDB:ENSG00000157985.18 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0705, Eukaryota |
GeneTreei | ENSGT00940000154793 |
InParanoidi | Q9UPQ3 |
OMAi | QDIPMIL |
OrthoDBi | 751525at2759 |
PhylomeDBi | Q9UPQ3 |
TreeFami | TF317762 |
Enzyme and pathway databases
PathwayCommonsi | Q9UPQ3 |
Miscellaneous databases
BioGRID-ORCSi | 116987, 4 hits in 992 CRISPR screens |
ChiTaRSi | AGAP1, human |
GeneWikii | CENTG2 |
GenomeRNAii | 116987 |
Pharosi | Q9UPQ3, Tbio |
PROi | PR:Q9UPQ3 |
RNActi | Q9UPQ3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000157985, Expressed in cortical plate and 232 other tissues |
ExpressionAtlasi | Q9UPQ3, baseline and differential |
Genevisiblei | Q9UPQ3, HS |
Family and domain databases
Gene3Di | 1.25.40.20, 1 hit 2.30.29.30, 2 hits 3.30.40.160, 1 hit |
InterProi | View 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 |
Pfami | View protein in Pfam PF12796, Ank_2, 1 hit PF01412, ArfGap, 1 hit PF00071, Ras, 1 hit |
PRINTSi | PR00405, REVINTRACTNG |
SMARTi | View protein in SMART SM00248, ANK, 2 hits SM00105, ArfGap, 1 hit SM00233, PH, 1 hit |
SUPFAMi | SSF48403, SSF48403, 1 hit SSF52540, SSF52540, 1 hit SSF57863, SSF57863, 1 hit |
PROSITEi | View 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 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AGAP1_HUMAN | |
Accessioni | Q9UPQ3Primary (citable) accession number: Q9UPQ3 Secondary accession number(s): B2RTX7 Q9NV93 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 27, 2003 |
Last sequence update: | November 13, 2007 | |
Last modified: | April 7, 2021 | |
This is version 203 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families