AGAP6_HUMAN
ID AGAP6_HUMAN Reviewed; 663 AA.
AC Q5VW22;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6;
DE Short=AGAP-6;
DE AltName: Full=Centaurin-gamma-like family member 3;
GN Name=AGAP6; Synonyms=CTGLF3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Putative GTPase-activating protein. {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5VW22-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VW22-2; Sequence=VSP_040815;
CC -!- MISCELLANEOUS: Encoded by one of the numerous copies of centaurin
CC gamma-like genes clustered in the q11 region of chromosome 10.
CC -!- MISCELLANEOUS: [Isoform 1]: Prediction based on family homologs
CC sequence.
CC -!- SIMILARITY: Belongs to the centaurin gamma-like family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BC131545; Type=Frameshift; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AL442003; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC131545; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS44397.1; -. [Q5VW22-2]
DR RefSeq; NP_001071133.2; NM_001077665.2. [Q5VW22-2]
DR RefSeq; XP_016871759.1; XM_017016270.1.
DR AlphaFoldDB; Q5VW22; -.
DR SMR; Q5VW22; -.
DR BioGRID; 135969; 1.
DR STRING; 9606.ENSP00000400972; -.
DR iPTMnet; Q5VW22; -.
DR PhosphoSitePlus; Q5VW22; -.
DR BioMuta; AGAP6; -.
DR DMDM; 74756919; -.
DR jPOST; Q5VW22; -.
DR MassIVE; Q5VW22; -.
DR PeptideAtlas; Q5VW22; -.
DR PRIDE; Q5VW22; -.
DR DNASU; 414189; -.
DR Ensembl; ENST00000374056.10; ENSP00000363168.6; ENSG00000204149.15. [Q5VW22-1]
DR Ensembl; ENST00000412531.7; ENSP00000500374.1; ENSG00000204149.15. [Q5VW22-2]
DR GeneID; 414189; -.
DR KEGG; hsa:414189; -.
DR MANE-Select; ENST00000412531.7; ENSP00000500374.1; NM_001077665.3; NP_001071133.2. [Q5VW22-2]
DR UCSC; uc001jix.5; human. [Q5VW22-1]
DR CTD; 414189; -.
DR GeneCards; AGAP6; -.
DR HGNC; HGNC:23466; AGAP6.
DR HPA; ENSG00000204149; Low tissue specificity.
DR neXtProt; NX_Q5VW22; -.
DR VEuPathDB; HostDB:ENSG00000204149; -.
DR eggNOG; KOG0705; Eukaryota.
DR GeneTree; ENSGT00940000163475; -.
DR InParanoid; Q5VW22; -.
DR OMA; PEALECN; -.
DR OrthoDB; 751525at2759; -.
DR PhylomeDB; Q5VW22; -.
DR TreeFam; TF317762; -.
DR PathwayCommons; Q5VW22; -.
DR SignaLink; Q5VW22; -.
DR BioGRID-ORCS; 414189; 481 hits in 1003 CRISPR screens.
DR ChiTaRS; AGAP6; human.
DR GenomeRNAi; 414189; -.
DR Pharos; Q5VW22; Tdark.
DR PRO; PR:Q5VW22; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q5VW22; protein.
DR Bgee; ENSG00000204149; Expressed in pituitary gland and 90 other tissues.
DR Genevisible; Q5VW22; HS.
DR GO; GO:0005096; F:GTPase activator activity; IBA:GO_Central.
DR GO; GO:0003924; F:GTPase activity; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0090630; P:activation of GTPase activity; IBA:GO_Central.
DR Gene3D; 1.10.220.150; -; 1.
DR Gene3D; 1.25.40.20; -; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR037278; ARFGAP/RecO.
DR InterPro; IPR001164; ArfGAP_dom.
DR InterPro; IPR038508; ArfGAP_dom_sf.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR Pfam; PF12796; Ank_2; 1.
DR Pfam; PF01412; ArfGap; 1.
DR PRINTS; PR00405; REVINTRACTNG.
DR SMART; SM00248; ANK; 2.
DR SMART; SM00105; ArfGap; 1.
DR SMART; SM00233; PH; 1.
DR SUPFAM; SSF48403; SSF48403; 1.
DR SUPFAM; SSF57863; SSF57863; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 1.
DR PROSITE; PS50115; ARFGAP; 1.
DR PROSITE; PS50003; PH_DOMAIN; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ANK repeat; GTPase activation; Metal-binding;
KW Reference proteome; Repeat; Zinc; Zinc-finger.
FT CHAIN 1..663
FT /note="Arf-GAP with GTPase, ANK repeat and PH domain-
FT containing protein 6"
FT /id="PRO_0000284674"
FT DOMAIN 259..420
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT DOMAIN 441..561
FT /note="Arf-GAP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00288"
FT REPEAT 600..629
FT /note="ANK 1"
FT REPEAT 633..662
FT /note="ANK 2"
FT ZN_FING 456..479
FT /note="C4-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00288"
FT REGION 185..216
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 231..255
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 359..381
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 235..250
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 73
FT /note="P -> PEALEFNLSANPESSTIFQRNSQT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040815"
FT CONFLICT 37
FT /note="R -> G (in Ref. 2; BC131545)"
FT /evidence="ECO:0000305"
FT CONFLICT 70
FT /note="R -> Q (in Ref. 2; BC131545)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 663 AA; 73127 MW; D37B8B139F967113 CRC64;
MGNILTCRVH PSVSLEFDQQ QGSVCPSESE TYEAGARDRM AGAPMAAAVQ PAEVTVEVGE
DLHMHHVRDR EMPEALEFNP SANPEASTIF QRNSQTDVVE IRRSNCTNHV SAVRFSQQYS
LCSTIFLDDS TAIQHYLTMT IISVTLEIPH HITQRDADRT LSIPDEQLHS FAVSTVHIMK
KRNGGGSLNN YSSSIPSTPS TSQEDPQFSV PPTANTPTPV CKRSMRWSNL FTSEKGSDPD
KERKAPENHA DTIGSGRAIP IKQGMLLKRS GKWLKTWKKK YVTLCSNGML TYYSSLGDYM
KNIHKKEIDL QTSTIKVPGK WPSLATSACT PISSSKSNGL SKDMDTGLGD SICFSPSISS
TTSPKLNPPP SPHANKKKHL KKKSTNNFMI VSATGQTWHF EATTYEERDA WVQAIQSQIL
ASLQSCESSK SKSQLTSQSE AMALQSIQNM RGNAHCVDCE TQNPKWASLN LGVLMCIECS
GIHRSLGPHL SRVRSLELDD WPVELRKVMS SIVNDLANSI WEGSSQGQTK PSEKSTREEK
ERWIRSKYEE KLFLAPLPCT ELSLGQQLLR ATADEDLQTA ILLLAHGSCE EVNETCGEGD
GCTALHLACR KGNVVLAQLL IWYGVDVMAR DAHGNTALTY ARQASSQECI NVLLQYGCPD
ECV
