LOCUS       NM_001276343            2535 bp    mRNA    linear   PRI 02-JUN-2024
DEFINITION  Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH
            domain 4 (AGAP4), transcript variant 1, mRNA.
ACCESSION   NM_001276343 XM_006717620
VERSION     NM_001276343.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2535)
  AUTHORS   Varela,I., Tarpey,P., Raine,K., Huang,D., Ong,C.K., Stephens,P.,
            Davies,H., Jones,D., Lin,M.L., Teague,J., Bignell,G., Butler,A.,
            Cho,J., Dalgliesh,G.L., Galappaththige,D., Greenman,C., Hardy,C.,
            Jia,M., Latimer,C., Lau,K.W., Marshall,J., McLaren,S., Menzies,A.,
            Mudie,L., Stebbings,L., Largaespada,D.A., Wessels,L.F., Richard,S.,
            Kahnoski,R.J., Anema,J., Tuveson,D.A., Perez-Mancera,P.A.,
            Mustonen,V., Fischer,A., Adams,D.J., Rust,A., Chan-on,W.,
            Subimerb,C., Dykema,K., Furge,K., Campbell,P.J., Teh,B.T.,
            Stratton,M.R. and Futreal,P.A.
  TITLE     Exome sequencing identifies frequent mutation of the SWI/SNF
            complex gene PBRM1 in renal carcinoma
  JOURNAL   Nature 469 (7331), 539-542 (2011)
   PUBMED   21248752
  REMARK    Erratum:[Nature. 2012 Apr 5;484(7392):130]
REFERENCE   2  (bases 1 to 2535)
  AUTHORS   Kamatani,Y., Matsuda,K., Okada,Y., Kubo,M., Hosono,N., Daigo,Y.,
            Nakamura,Y. and Kamatani,N.
  TITLE     Genome-wide association study of hematological and biochemical
            traits in a Japanese population
  JOURNAL   Nat Genet 42 (3), 210-215 (2010)
   PUBMED   20139978
REFERENCE   3  (bases 1 to 2535)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012044.15.
            
            On Feb 5, 2021 this sequence version replaced NM_001276343.2.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC171833.1, SRR14038197.384951.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000616763.6/ ENSP00000483751.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-376               AC012044.15        84017-84392
            377-445             AC012044.15        84762-84830
            446-514             AC012044.15        87123-87191
            515-549             AC012044.15        89830-89864
            550-650             AC012044.15        97401-97501
            651-686             AC012044.15        100088-100123
            687-738             AC012044.15        103437-103488
            739-2535            AC012044.15        104127-105923
FEATURES             Location/Qualifiers
     source          1..2535
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22"
     gene            1..2535
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /note="ArfGAP with GTPase domain, ankyrin repeat and PH
                     domain 4"
                     /db_xref="GeneID:119016"
                     /db_xref="HGNC:HGNC:23459"
     exon            1..376
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             154..2214
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /note="isoform 1 is encoded by transcript variant 1; ARF
                     GTPase-activating protein; centaurin, gamma-like family,
                     member 1; arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein 4; centaurin, gamma-like family,
                     member 5; ArfGAP with GTPase domain, ankyrin repeat and PH
                     domain 8; arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein 8"
                     /codon_start=1
                     /product="arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein 4 isoform 1"
                     /protein_id="NP_001263272.2"
                     /db_xref="CCDS:CCDS91238.1"
                     /db_xref="GeneID:119016"
                     /db_xref="HGNC:HGNC:23459"
                     /translation="MGNILTCRVHPSVSLEFDQQQGSVCPSESEIYEAGAGDRMAGAP
                     MAAAVQPAEVTVEVGEDLHMHHVRDREMPEALEFNLSANPEASTIFQRNSQTDALEFN
                     PSANPEASTIFQRNSQTDVVEIRRSNCTNHVSTVRFSQQYSLCSTIFLDDSTAIQHYL
                     TMTIISVTLEIPHHITQRDADRSLSIPDEQLHSFAVSTVHIMKKRNGGGSLNNYSSSI
                     PSTPSTSQEDPQFSVPPTANTPTPVCKRSMRWSNLFTSEKGSDPDKERKAPENHADTI
                     GSGRAIPIKQGMLLKRSGKWLKTWKKKYVTLCSNGVLTYYSSLGDYMKNIHKKEIDLQ
                     TSTIKVPGKWPSLATSACTPISTSKSNGLSKDMDTGLGDSICFSPSISSTTSPKLNPP
                     PSPHANKKKHLKKKSTNNFMIVSATGQTWHFEATTYEERDAWVQAIQSQILASLQSCE
                     SSKSKSQLTSQSKAMALQSIQNMRGNAHCVDCETQNPKWASLNLGVLMCIECSGIHRS
                     LGTRLSRVRSLELDDWPVELRKVMSSIGNDLANSIWEGSSQGQTKPSEKSTREEKERW
                     IRSKYEEKLFLAPLPCTELSLGQQLLRATADEDLQTAILLLAHGSREEVNETCGEGDG
                     CTALHLACRKGNVVLAQLLIWYGVDVMARDAHGNTALTYARQASSQECINVLLQYGCP
                     DKCV"
     exon            377..445
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /inference="alignment:Splign:2.1.0"
     exon            446..514
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /inference="alignment:Splign:2.1.0"
     exon            515..549
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /inference="alignment:Splign:2.1.0"
     exon            550..650
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /inference="alignment:Splign:2.1.0"
     exon            651..686
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /inference="alignment:Splign:2.1.0"
     exon            687..738
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /inference="alignment:Splign:2.1.0"
     exon            739..2535
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2503..2508
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /note="hexamer: AATAAA"
     regulatory      2512..2517
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /note="hexamer: CATAAA"
     polyA_site      2523
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /note="major polyA site"
     polyA_site      2535
                     /gene="AGAP4"
                     /gene_synonym="AGAP-4; AGAP-8; AGAP8; CTGLF1; CTGLF5;
                     MRIP2"
                     /note="major polyA site"
ORIGIN      
        1 ggctggtgcc cggggccgcg ctgtgaggtg ggcaggcgag gagcgggaag accatctctg
       61 caagtgcagc atagcctcgg cctaggacag cgggagtgcg tggccaaagc tgtgagcaga
      121 ggcacaggtg gtggcagaca gtagaggcgc cccatgggga acatactgac ctgtcgtgtg
      181 caccctagcg tcagcctcga gtttgaccag cagcaggggt cggtgtgtcc ctctgaatct
      241 gagatctatg aggcaggagc tggggacagg atggcaggag cgcccatggc tgctgctgta
      301 cagcctgctg aggtgactgt tgaagttggt gaggacctcc acatgcacca cgttcgtgac
      361 cgggagatgc ctgaagcttt ggagtttaac ctttctgcca atccagaggc aagcacaata
      421 ttccagagga actctcaaac agatgctttg gagtttaacc cttctgccaa tccagaggca
      481 agcacaatat tccagaggaa ctctcaaaca gatgttgtag aaataagaag aagcaactgt
      541 acaaaccatg tatctactgt gcgtttcagt caacaataca gcttgtgttc gacaatattc
      601 cttgatgaca gcacagccat ccagcattat cttacaatga caataatatc tgtgaccttg
      661 gagatacctc atcatatcac acaaagagat gcagatagat ctttgagcat acctgatgaa
      721 cagttacact catttgcggt ttccaccgtg cacattatga agaaaagaaa tggaggtggg
      781 agtttaaata actattcctc ctccattcca tcgactccca gcaccagcca ggaggaccct
      841 cagttcagtg ttcctcccac tgccaacaca cccacccccg tttgcaagcg gtccatgcgc
      901 tggtccaacc tgtttacatc tgagaaaggg agtgacccag acaaagagag gaaagccccg
      961 gagaatcatg ctgacaccat cgggagcggc agagccatcc ccattaaaca gggcatgctc
     1021 ttaaagcgaa gtgggaaatg gctgaagaca tggaaaaaga aatacgtcac cctgtgttcc
     1081 aatggcgtgc tcacctatta ttcaagctta ggtgattata tgaagaatat tcataaaaaa
     1141 gagattgacc ttcagacatc taccatcaaa gtcccaggaa agtggccatc cctagccaca
     1201 tcggcctgca cacccatctc cacctctaaa agcaatggcc tatccaagga catggacacc
     1261 gggctgggtg actccatatg cttcagcccc agtatctcca gcaccaccag ccccaagctc
     1321 aacccgcccc cctctcctca tgccaataaa aagaaacacc taaagaagaa aagcaccaac
     1381 aactttatga ttgtgtctgc cactggccaa acgtggcact ttgaagccac gacgtatgag
     1441 gagcgggatg cctgggtcca agccatccag agccagatcc tggccagcct gcagtcatgc
     1501 gagagcagta aaagcaagtc ccagctgacc agccagagca aggccatggc cctgcagtcg
     1561 atccaaaaca tgcgtgggaa cgcccactgt gtggactgtg agacccagaa tcctaagtgg
     1621 gccagtttga acttgggagt cctcatgtgt attgaatgct caggaatcca ccgcagtctt
     1681 ggcacccgcc tttcccgtgt gcgatctctg gagctggatg actggccagt tgagctcagg
     1741 aaggttatgt catctattgg caatgaccta gccaacagca tctgggaagg gagcagccag
     1801 gggcagacaa aaccctcaga aaagtccacg agggaagaga aggaacggtg gatccgttcc
     1861 aaatatgagg agaagctctt tctggcccca ctaccctgca ctgagctgtc cctgggccag
     1921 cagctgctgc gggccaccgc tgatgaggac ctgcagacag ccatcctgct gctggcacat
     1981 ggctcccgtg aggaggtgaa cgagacctgt ggggagggag acggctgcac ggcgctccat
     2041 ctggcctgcc gcaaggggaa tgtggtcctg gcgcagctcc tgatctggta cggggtggac
     2101 gtcatggccc gagatgccca cgggaacaca gcgctgacct acgcccggca ggcctccagc
     2161 caggagtgca tcaacgtgct tctgcagtac ggctgccccg acaagtgtgt gtagtatctg
     2221 ttttatttga ctgcagtctc cttggtgcaa aaacaaaatg ggaaaaataa ggataactca
     2281 gaatttcaaa aggaaatcac aaattcagct aataatagca ttttcagtac ttttcgtaaa
     2341 ctaagtaaat acacaaaatg ttgatttttc tgaccataag acgtatttta tgtccttttg
     2401 ccaaggtgga tttgttagtc tcaggccctc ctggccacat tgcccaagtc acacaggctt
     2461 ctgtattatg tatttagata aaatgtgtga aaatatattt gaaataaagt tcataaatat
     2521 gcattgattt ttgta
//
