LOCUS       NM_030649               3793 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains
            3 (ACAP3), mRNA.
ACCESSION   NM_030649
VERSION     NM_030649.3
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 3793)
  AUTHORS   Zhan,F., Zhang,R., Qiu,L. and Ren,Y.
  TITLE     ACAP3 negatively regulated by HDAC2 inhibits the malignant
            development of papillary thyroid carcinoma cells
  JOURNAL   Int J Biochem Cell Biol 174, 106635 (2024)
   PUBMED   39098591
  REMARK    GeneRIF: ACAP3 negatively regulated by HDAC2 inhibits the malignant
            development of papillary thyroid carcinoma cells.
REFERENCE   2  (bases 1 to 3793)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 3793)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3793)
  AUTHORS   Suchkova,I.O., Borisova,E.V. and Patkin,E.L.
  TITLE     Length Polymorphism and Methylation Status of UPS29 Minisatellite
            of the ACAP3 Gene as Molecular Biomarker of Epilepsy. Sex
            Differences in Seizure Types and Symptoms
  JOURNAL   Int J Mol Sci 21 (23), 9206 (2020)
   PUBMED   33276684
  REMARK    GeneRIF: Length Polymorphism and Methylation Status of UPS29
            Minisatellite of the ACAP3 Gene as Molecular Biomarker of Epilepsy.
            Sex Differences in Seizure Types and Symptoms.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3793)
  AUTHORS   Miura,Y. and Kanaho,Y.
  TITLE     ACAP3, the GTPase-activating protein specific to the small GTPase
            Arf6, regulates neuronal migration in the developing cerebral
            cortex
  JOURNAL   Biochem Biophys Res Commun 493 (2), 1089-1094 (2017)
   PUBMED   28919417
REFERENCE   6  (bases 1 to 3793)
  AUTHORS   Miura,Y., Hongu,T., Yamauchi,Y., Funakoshi,Y., Katagiri,N.,
            Ohbayashi,N. and Kanaho,Y.
  TITLE     ACAP3 regulates neurite outgrowth through its GAP activity specific
            to Arf6 in mouse hippocampal neurons
  JOURNAL   Biochem J 473 (17), 2591-2602 (2016)
   PUBMED   27330119
REFERENCE   7  (bases 1 to 3793)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   8  (bases 1 to 3793)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 3793)
  AUTHORS   Shubina,D.M., Suchkova,I.O., Slominskaia,N.A., Alenina,N., Bader,M.
            and Patkin,E.L.
  TITLE     [CENTB5 gene expression in human and mouse]
  JOURNAL   Mol Biol (Mosk) 43 (3), 407-413 (2009)
   PUBMED   19548526
  REMARK    GeneRIF: minisatellite locus UPS29 can regulate an activity of
            CENTB5, SCNN1D and ACOT7 in nervous system cells.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139287.24, BC051194.1 and AB051503.1.
            
            On Nov 22, 2018 this sequence version replaced NM_030649.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC051194.1, SRR7346977.1849310.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354700.10/ ENSP00000346733.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-41                AL139287.24        7843-7883           c
            42-395              BC051194.1         1-354
            396-1928            AB051503.1         2020-3552
            1929-3793           BC051194.1         1888-3752
FEATURES             Location/Qualifiers
     source          1..3793
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..3793
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /note="ArfGAP with coiled-coil, ankyrin repeat and PH
                     domains 3"
                     /db_xref="GeneID:116983"
                     /db_xref="HGNC:HGNC:16754"
     exon            1..162
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     CDS             116..2620
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /note="cnt-b5; centaurin-beta-5"
                     /codon_start=1
                     /product="arf-GAP with coiled-coil, ANK repeat and PH
                     domain-containing protein 3"
                     /protein_id="NP_085152.2"
                     /db_xref="CCDS:CCDS19.2"
                     /db_xref="GeneID:116983"
                     /db_xref="HGNC:HGNC:16754"
                     /translation="MTVEFEECVKDSPRFRATIDEVETDVVEIEAKLDKLVKLCSGMV
                     EAGKAYVSTSRLFVSGVRDLSQQCQGDTVISECLQRFADSLQEVVNYHMILFDQAQRS
                     VRQQLQSFVKEDVRKFKETKKQFDKVREDLELSLVRNAQAPRHRPHEVEEATGALTLT
                     RKCFRHLALDYVLQINVLQAKKKFEILDSMLSFMHAQSSFFQQGYSLLHQLDPYMKKL
                     AAELDQLVIDSAVEKREMERKHAAIQQRTLLQDFSYDESKVEFDVDAPSGVVMEGYLF
                     KRASNAFKTWNRRWFSIQNSQLVYQKKLKDALTVVVDDLRLCSVKPCEDIERRFCFEV
                     LSPTKSCMLQADSEKLRQAWVQAVQASIASAYRESPDSCYSERLDRTASPSTSSIDSA
                     TDTRERGVKGESVLQRVQSVAGNSQCGDCGQPDPRWASINLGVLLCIECSGIHRSLGV
                     HCSKVRSLTLDSWEPELLKLMCELGNSAVNQIYEAQCEGAGSRKPTASSSRQDKEAWI
                     KDKYVEKKFLRKAPMAPALEAPRRWRVQKCLRPHSSPRAPTARRKVRLEPVLPCVAAL
                     SSVGTLDRKFRRDSLFCPDELDSLFSYFDAGAAGAGPRSLSSDSGLGGSSDGSSDVLA
                     FGSGSVVDSVTEEEGAESEESSGEADGDTEAEAWGLADVRELHPGLLAHRAARARDLP
                     ALAAALAHGAEVNWADAEDEGKTPLVQAVLGGSLIVCEFLLQNGADVNQRDSRGRAPL
                     HHATLLGRTGQVCLFLKRGADQHALDQEQRDPLAIAVQAANADIVTLLRLARMAEEMR
                     EAEAAPGPPGALAGSPTELQFRRCIQEFISLHLEES"
     exon            163..220
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            221..340
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            341..394
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            395..453
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            454..637
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            638..682
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            683..778
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            779..853
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            854..865
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            866..978
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1030
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..1131
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1132..1243
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1244..1452
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1453..1522
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1523..1617
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1618..1820
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1821..1928
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1929..2027
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            2028..2254
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            2255..2364
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            2365..2475
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            2476..3793
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3290..3295
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /note="hexamer: CATAAA"
     polyA_site      3314
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /note="major polyA site"
     regulatory      3775..3780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /note="hexamer: AATAAA"
     polyA_site      3793
                     /gene="ACAP3"
                     /gene_synonym="CENTB5"
                     /note="major polyA site"
ORIGIN      
        1 attccggggc gggcgggcgc cgaggcggcg cgggcgggac gagcggtccg ggccggcgcg
       61 gctgccgctc ggcgccgcgg tcctcgtgcc agtgagcgcc gcggccgccg cagccatgac
      121 cgtggagttc gaggagtgcg tcaaggactc cccgcgcttc agggcgacca ttgacgaggt
      181 ggagacggac gtggtggaga ttgaggccaa actggacaag ctggtgaagc tgtgcagtgg
      241 catggtggaa gccggtaagg cctacgtcag caccagcagg cttttcgtga gcggcgtccg
      301 cgacctgtcc cagcagtgcc agggcgacac cgtcatctcg gaatgtctgc agaggttcgc
      361 tgacagccta caggaggtgg tgaactacca catgatcctg tttgaccagg cccagaggtc
      421 cgtgcggcag cagctccaga gctttgtcaa agaggatgtg cggaagttca aggagacaaa
      481 gaagcagttt gacaaggtgc gggaggacct ggagctgtcc ctggtgagga acgcccaggc
      541 cccgaggcac cggccccacg aggtggagga agccaccggg gccctcaccc tcaccaggaa
      601 gtgcttccgc cacctggcac tggactatgt gctccagatc aatgttctgc aggccaagaa
      661 gaagtttgag atcctggact ctatgctgtc cttcatgcac gcccagtcca gcttcttcca
      721 gcagggctac agcctcctgc accagctgga cccctacatg aagaagctgg cagccgagct
      781 ggaccagctg gtgatcgact ctgcggtgga aaagcgtgag atggagcgaa agcacgccgc
      841 catccagcag cggacgctgc tgcaggactt ctcctacgat gagtccaaag tggagtttga
      901 cgtggacgcg cccagtgggg tggtgatgga gggctacctc ttcaagaggg ccagcaacgc
      961 tttcaagaca tggaaccggc gctggttctc cattcagaac agccagctgg tctaccagaa
     1021 gaagctcaag gatgccctca ccgtggtggt ggatgacctc cgcctgtgct ctgtgaagcc
     1081 gtgtgaggac atcgagcgga ggttctgctt cgaggtgctg tcacccacca agagctgcat
     1141 gctgcaggct gactccgaga agctgcggca agcctgggtc caggctgtgc aggccagcat
     1201 cgcctccgcc taccgcgaga gccctgacag ttgctatagc gagaggctgg accgcacagc
     1261 atccccgtcc acgagcagca tcgactccgc caccgacact cgggagcgtg gcgtgaaggg
     1321 cgagagtgtg ctgcagcgtg tgcagagtgt ggccggcaac agccagtgcg gcgactgcgg
     1381 ccagccggac ccccgctggg ccagcatcaa cctgggcgtg ctgctctgca ttgagtgctc
     1441 cggcatccac aggagcctgg gtgtccactg ctccaaggtg cggtccctga cgctggactc
     1501 gtgggagcct gagctgctaa agctgatgtg tgagcttgga aacagcgctg tgaatcagat
     1561 ctatgaggcc cagtgtgagg gtgcaggcag caggaaaccc acagccagca gctcccggca
     1621 ggacaaggag gcctggatca aggacaaata cgtggaaaag aagtttctgc ggaaggcgcc
     1681 catggcacca gccctggagg ccccaagacg ctggagggtg cagaagtgcc tgcggcccca
     1741 cagctctccc cgcgctccca ctgcccgccg caaggtccgg cttgagcccg ttctgccctg
     1801 tgtggccgct ctgtcctcag tgggcaccct ggatcgtaag ttccgccgag actccctctt
     1861 ctgtcccgac gagctggact cgctcttctc ctacttcgac gcaggggccg caggggctgg
     1921 ccctcgcagt ctgagtagcg acagtggcct tgggggcagc tcggatggca gctcggacgt
     1981 cctggctttc ggctcgggct ctgtggtgga cagcgtcact gaggaggagg gtgcagagtc
     2041 ggaggagtcc agcggtgagg cagacgggga cactgaggcc gaggcctggg gcctggcgga
     2101 cgtgcgcgag ctgcacccgg ggctcttggc gcaccgcgca gcgcgtgccc gcgaccttcc
     2161 tgcgctggcg gcggcgctgg cccacggggc cgaggtcaac tgggcggacg cggaggatga
     2221 gggcaagacg ccgctggtgc aggccgtgct agggggctcc ttgatcgtct gtgagttcct
     2281 gctgcaaaac ggagcggacg tgaaccaaag agacagccgg ggccgggcgc ccctgcacca
     2341 cgccacgctg ctgggccgca ccggccaggt ttgcctgttc ctgaagcggg gcgcggacca
     2401 gcacgccctg gaccaagagc agcgggaccc gttggccatc gcagtgcagg cggccaacgc
     2461 tgacatcgtg acactgctcc gtctggcgcg catggcggag gaaatgcgcg aggccgaggc
     2521 tgcccctggt cccccgggcg ccctggcggg cagccccacg gagctccagt tccgcaggtg
     2581 tatccaggag ttcatcagcc tccacctgga agagagctag ggccgggcag gccgggcagc
     2641 tgccaccccg cccggcccga cgccccgcat gccccgaagt ccctggcgcc cacccggccg
     2701 cggccctgcg tgtgacccgc gggtcgatac ctggcagccc cagtgctggg gcgccgcggc
     2761 cctgctcgcc caggaggaga gcgagggccc cacactgagt ctcttgaagc ctcacgtttc
     2821 cctggggggg tgctgcatcg tcgggtgtcc ctcaccccac ctggggaacc tctgtcttca
     2881 ggtcacccct tttcaggggc ctgggttgct catgtcacaa gccactttta aggcccgtgt
     2941 cacctgtgtc cctgtgtcct cagggcctgt gttacttcgt gccccacttc tgcccagaac
     3001 actgacctgt tagctggctc cctcctgcac accccagagc ctcctcccag ggcagaaagg
     3061 gtggcccatc cagggaacca acgagtacct cacttagtga ccccagcatc caggctggcg
     3121 tcgcgggtgc tgggcgggag gggctctggc ctgggtcctc agccctggct ggacgcgggc
     3181 gtcccaaggc cacgtggctg gccacgaagg tccccgtgcc agacagcccc agccgcatcc
     3241 cggcctcctc cggaggcacc ttctcctggt actcggccca gagcctgcgc ataaagccac
     3301 tttgccactt tgcagccctc atctcatgtt ctttgtagcg gaccgagtgg gtttgctata
     3361 ggcctcgtct gactttgtct tgcgtctttt ctctgtggac tcttgaggac gcctgagccc
     3421 cagccctgcc cctgaccagc ctcccccttg ggtccagggg tctttcggct catattgcag
     3481 ggcctgccaa tgccttcacg caccccttcc ccaaaggtgc ccggcaggga ggcagggcct
     3541 cccccactca gcgcaggtca ggctaaggcc agtcggctgg tcactatgca atgctgccct
     3601 ggggaggctc cctgagggca cagtgggcgc tggacccggc cccccaactc tcttgcctgc
     3661 tgcctgtgac cctgaagaac agaattgatt cttgcccctc tccctgtgtg agcttggccc
     3721 cgcctcttgc cccaggcccc tgctggcggg tctcaccccc cacccctcgc tttgaataaa
     3781 gcacttgcgc cca
//
