LOCUS       NM_006136               5068 bp    mRNA    linear   PRI 07-MAY-2024
DEFINITION  Homo sapiens capping actin protein of muscle Z-line subunit alpha 2
            (CAPZA2), mRNA.
ACCESSION   NM_006136
VERSION     NM_006136.3
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 5068)
  AUTHORS   Zhang,X.M., Xu,K.L., Kong,J.H., Dong,G., Dong,S.J., Yang,Z.X.,
            Xu,S.J., Wang,L., Luo,S.Y., Zhang,Y.D., Zhou,C.C., Gu,W.Y. and
            Mei,S.Y.
  TITLE     Heterozygous CAPZA2 mutations cause global developmental delay,
            hypotonia with epilepsy: a case report and the literature review
  JOURNAL   J Hum Genet 69 (5), 197-203 (2024)
   PUBMED   38374166
  REMARK    GeneRIF: Heterozygous CAPZA2 mutations cause global developmental
            delay, hypotonia with epilepsy: a case report and the literature
            review.
            Review article
REFERENCE   2  (bases 1 to 5068)
  AUTHORS   Wang,D., Ye,Z., Wei,W., Yu,J., Huang,L., Zhang,H. and Yue,J.
  TITLE     Capping protein regulates endosomal trafficking by controlling
            F-actin density around endocytic vesicles and recruiting RAB5
            effectors
  JOURNAL   Elife 10, e65910 (2021)
   PUBMED   34796874
  REMARK    GeneRIF: Capping protein regulates endosomal trafficking by
            controlling F-actin density around endocytic vesicles and
            recruiting RAB5 effectors.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5068)
  AUTHORS   Huang,Y., Mao,X., van Jaarsveld,R.H., Shu,L., Terhal,P.A., Jia,Z.,
            Xi,H., Peng,Y., Yan,H., Yuan,S., Li,Q., Wang,H. and Bellen,H.J.
  TITLE     Variants in CAPZA2, a member of an F-actin capping complex, cause
            intellectual disability and developmental delay
  JOURNAL   Hum Mol Genet 29 (9), 1537-1546 (2020)
   PUBMED   32338762
  REMARK    GeneRIF: Variants in CAPZA2, a member of an F-actin capping
            complex, cause intellectual disability and developmental delay.
REFERENCE   4  (bases 1 to 5068)
  AUTHORS   Jung,Y.S., Wang,W., Jun,S., Zhang,J., Srivastava,M., Kim,M.J.,
            Lien,E.M., Shang,J., Chen,J., McCrea,P.D., Zhang,S. and Park,J.I.
  TITLE     Deregulation of CRAD-controlled cytoskeleton initiates mucinous
            colorectal cancer via beta-catenin
  JOURNAL   Nat Cell Biol 20 (11), 1303-1314 (2018)
   PUBMED   30361697
REFERENCE   5  (bases 1 to 5068)
  AUTHORS   Boldt,K., van Reeuwijk,J., Lu,Q., Koutroumpas,K., Nguyen,T.M.,
            Texier,Y., van Beersum,S.E., Horn,N., Willer,J.R., Mans,D.A.,
            Dougherty,G., Lamers,I.J., Coene,K.L., Arts,H.H., Betts,M.J.,
            Beyer,T., Bolat,E., Gloeckner,C.J., Haidari,K., Hetterschijt,L.,
            Iaconis,D., Jenkins,D., Klose,F., Knapp,B., Latour,B.,
            Letteboer,S.J., Marcelis,C.L., Mitic,D., Morleo,M., Oud,M.M.,
            Riemersma,M., Rix,S., Terhal,P.A., Toedt,G., van Dam,T.J., de
            Vrieze,E., Wissinger,Y., Wu,K.M., Apic,G., Beales,P.L.,
            Blacque,O.E., Gibson,T.J., Huynen,M.A., Katsanis,N., Kremer,H.,
            Omran,H., van Wijk,E., Wolfrum,U., Kepes,F., Davis,E.E., Franco,B.,
            Giles,R.H., Ueffing,M., Russell,R.B. and Roepman,R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5068)
  AUTHORS   Inman,K.G., Yang,R., Rustandi,R.R., Miller,K.E., Baldisseri,D.M.
            and Weber,D.J.
  TITLE     Solution NMR structure of S100B bound to the high-affinity target
            peptide TRTK-12
  JOURNAL   J Mol Biol 324 (5), 1003-1014 (2002)
   PUBMED   12470955
REFERENCE   7  (bases 1 to 5068)
  AUTHORS   Miyagawa,Y., Tanaka,H., Iguchi,N., Kitamura,K., Nakamura,Y.,
            Takahashi,T., Matsumiya,K., Okuyama,A. and Nishimune,Y.
  TITLE     Molecular cloning and characterization of the human orthologue of
            male germ cell-specific actin capping protein alpha3 (cpalpha3)
  JOURNAL   Mol Hum Reprod 8 (6), 531-539 (2002)
   PUBMED   12029070
REFERENCE   8  (bases 1 to 5068)
  AUTHORS   Hart,M.C., Korshunova,Y.O. and Cooper,J.A.
  TITLE     Vertebrates have conserved capping protein alpha isoforms with
            specific expression patterns
  JOURNAL   Cell Motil Cytoskeleton 38 (2), 120-132 (1997)
   PUBMED   9331217
REFERENCE   9  (bases 1 to 5068)
  AUTHORS   Barron-Casella,E.A., Torres,M.A., Scherer,S.W., Heng,H.H.,
            Tsui,L.C. and Casella,J.F.
  TITLE     Sequence analysis and chromosomal localization of human Cap Z.
            Conserved residues within the actin-binding domain may link Cap Z
            to gelsolin/severin and profilin protein families
  JOURNAL   J Biol Chem 270 (37), 21472-21479 (1995)
   PUBMED   7665558
REFERENCE   10 (bases 1 to 5068)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI553815.1, BC005338.1,
            U03851.1, BX386541.2 and AC002543.1.
            
            On Nov 22, 2018 this sequence version replaced NM_006136.2.
            
            Summary: The protein encoded by this gene is a member of the
            F-actin capping protein alpha subunit family. It is the alpha
            subunit of the barbed-end actin binding protein Cap Z. By capping
            the barbed end of actin filaments, Cap Z regulates the growth of
            the actin filaments at the barbed end. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.91645.1,
                                           SRR1803616.33636.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361183.8/ ENSP00000354947.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-529               BI553815.1         99-627
            530-1667            BC005338.1         562-1699
            1668-1680           U03851.1           1652-1664
            1681-1695           BX386541.2         27-41               c
            1696-2227           U03851.1           1681-2212
            2228-2278           U03851.1           2214-2264
            2279-5068           AC002543.1         128853-131642
FEATURES             Location/Qualifiers
     source          1..5068
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.2"
     gene            1..5068
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /note="capping actin protein of muscle Z-line subunit
                     alpha 2"
                     /db_xref="GeneID:830"
                     /db_xref="HGNC:HGNC:1490"
                     /db_xref="MIM:601571"
     exon            1..64
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..886
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /note="F-actin capping protein alpha-2 subunit; capZ
                     alpha-2; capping protein (actin filament) muscle Z-line,
                     alpha 2; capping actin protein of muscle Z-line alpha
                     subunit 2; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="F-actin-capping protein subunit alpha-2"
                     /protein_id="NP_006127.1"
                     /db_xref="CCDS:CCDS5768.1"
                     /db_xref="GeneID:830"
                     /db_xref="HGNC:HGNC:1490"
                     /db_xref="MIM:601571"
                     /translation="MADLEEQLSDEEKVRIAAKFIIHAPPGEFNEVFNDVRLLLNNDN
                     LLREGAAHAFAQYNLDQFTPVKIEGYEDQVLITEHGDLGNGKFLDPKNRICFKFDHLR
                     KEATDPRPCEVENAVESWRTSVETALRAYVKEHYPNGVCTVYGKKIDGQQTIIACIES
                     HQFQAKNFWNGRWRSEWKFTITPSTTQVVGILKIQVHYYEDGNVQLVSHKDIQDSLTV
                     SNEVQTAKEFIKIVEAAENEYQTAISENYQTMSDTTFKALRRQLPVTRTKIDWNKILS
                     YKIGKEMQNA"
     exon            65..128
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /inference="alignment:Splign:2.1.0"
     exon            129..180
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /inference="alignment:Splign:2.1.0"
     exon            181..244
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /inference="alignment:Splign:2.1.0"
     exon            245..451
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /inference="alignment:Splign:2.1.0"
     exon            452..531
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /inference="alignment:Splign:2.1.0"
     exon            532..610
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /inference="alignment:Splign:2.1.0"
     exon            611..682
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /inference="alignment:Splign:2.1.0"
     exon            683..745
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /inference="alignment:Splign:2.1.0"
     exon            746..5068
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1647..1652
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /note="hexamer: AATATA"
     polyA_site      1671
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /note="major polyA site"
     regulatory      2259..2264
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /note="hexamer: AATATA"
     polyA_site      2278
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /note="major polyA site"
     regulatory      2313..2318
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /note="hexamer: AATACA"
     polyA_site      2349
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
     regulatory      2385..2390
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /note="hexamer: AATATA"
     polyA_site      2405
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
     polyA_site      2559
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
     regulatory      5046..5051
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
                     /note="hexamer: ATTAAA"
     polyA_site      5068
                     /gene="CAPZA2"
                     /gene_synonym="CAPPA2; CAPZ"
ORIGIN      
        1 gccgcggttt gtcgccagaa ggaagatggc ggatctggag gagcagttgt ctgatgaaga
       61 gaaggtgcgt atagcagcaa aattcatcat tcatgcccct cctggagaat ttaatgaggt
      121 tttcaatgat gttcggttac tgcttaataa tgacaatctt ctcagggaag gagcagccca
      181 tgcatttgca cagtataact tggaccagtt tactccagta aaaattgaag gttatgaaga
      241 tcaggtattg ataacagaac atggcgactt gggaaatgga aagtttttgg atccaaagaa
      301 cagaatctgt tttaaatttg atcacttaag gaaggaggca actgatccaa gaccctgtga
      361 agtagaaaat gcagttgaat catggagaac ttcagtagaa actgctctga gagcttacgt
      421 aaaagaacat tacccgaatg gagtctgcac tgtgtatggc aaaaaaatag atggacagca
      481 aaccattatt gcatgcatag aaagccatca gttccaagca aaaaattttt ggaatggtcg
      541 ttggaggtca gaatggaagt ttacaatcac tccttcaacc actcaagtgg ttggcatctt
      601 gaaaattcag gttcattatt atgaagatgg taatgttcag ctagtgagtc ataaagatat
      661 acaagattcc ctaacagtgt ctaatgaagt gcaaacagca aaagaattta taaagattgt
      721 agaagctgca gaaaatgaat accagactgc catcagtgag aattatcaga caatgtcgga
      781 cactactttc aaagccttac gtcgacagtt gccagttaca cgcactaaga ttgattggaa
      841 caagatcctt agctacaaga ttggcaaaga gatgcagaat gcataagatg aacattgcat
      901 gaccggatca ttttagtgtc tttgcgttaa aaaatcattg caaaagtatt ctgaactgtc
      961 aagctgccca gtcagatggg ctgttgccat ttaaaatcac tgtaattaat tagtttgatt
     1021 agagcacaaa gcttagctaa tcaaccatta tttttcattt tgtttgttct aagaggattg
     1081 aaaatcagtt tagtttaaat gtctttctgt taggcctttc tttcttacaa tgaagagatg
     1141 attcttctag tttatggtta aaagtttttg aagtgtctca aaaatatttt actaactgta
     1201 accctaaaat tgatgtcttt tggtttatga aatcagtaat ttttgatatt tccccagttc
     1261 tttttaatgg ggtcaataat ggacattcta gtttaaggtg gttgatggat ttagccatat
     1321 atgctgctaa agaaattgtc taccttttct tcctcacctg ttccatttat gtaaagttga
     1381 gattagaggg aaagcatttt ctatatcaat tgtgtttaaa cctttcaaga aggttattta
     1441 gctagcttag tgttgaacta aatttttttt aaacaaggca aggtctaatg ctgttttgag
     1501 attctgaaat taatgaaaat acttatttca gaaatgcatt taatgctttt tttcttgtga
     1561 cagttacgca aatcagcttg aattccatat gtccctgagt tatttttatc ataaagccac
     1621 aaatgtatta taacaaggca aattgtaata tatataatcc tgaactcatg accatgtctc
     1681 ggtttatttt ttttttcttg gattgaaaag tactgaaatt caatgtgaca ttaaaatgca
     1741 aattttccta tttatttgag tagaaaatca cttaccagtg agcatatata ttttaaaata
     1801 ctttctttgg atattgtaat tcttaactgg ttgtaaatta gaaaagctgg gattacatat
     1861 ggtgtgcggt tacagtctaa attttttcat cctcctatgc atcataagca tgtttgtaat
     1921 attttcaaaa atagttctac tgatgctaca ggaatttcaa gcctgtggtg aatgttagta
     1981 tttaccatag ggagtgaagt ggagttatgg tttcattcaa tagagtattg ctgattatac
     2041 ttgagtggaa tcctttcctc acgtactccc acagacgtct gggcctggaa attttttttt
     2101 tattttattt tattgttttt ttttttagaa aaacaccact tttattatgt acaataaaat
     2161 atttcattag cttgaattgt atagattttt aaaaattcaa tgaaagcatg ttgtttaatt
     2221 tctttttaaa atcactgttg ggctttgaaa gcattgagaa tataatatga aattatgaca
     2281 ttttgtctaa atcatctttt ctttagtttt aaaatacaag ttttggcaca ttgggattcc
     2341 taaagaaaat gaattggtaa cattaattat ctgttccttt ttaaaatata tatatttgaa
     2401 agtttgatga tggtgaacta aatactagat ctaattgaca agcttagttg tatcagttag
     2461 gccatcatga gtttctatcc catgaaagtc atcaatttcc tatctctgtt ctagtctgga
     2521 atgcattact gaaaatgtat gcaactgttt ttaaggtgat ttgcttgtga gacggaagat
     2581 ttatcaaaaa taatttagaa caggctgggc gcggtggctc acatctgtaa tcccagcact
     2641 ttgggaggcc gaggcgggtg gatcacgggg tcaggagatt gagaccaccc tgactaacac
     2701 agtgaaaccc tgtctctact aaaaatacaa aaaattagcc gggtgtggtg acaggcgctt
     2761 gtagtcccag ctactcggga ggctgaggca ggagaatggc gtgaacccgg gaggcggagc
     2821 tcgcagtgag ccgagatcgc gccactgcac tccagcctgg gtgacagagc aagactctgt
     2881 ctcaaaaaat aataataata ataataataa tataatttag aacagtctga aataatgatg
     2941 gcacagaata gtcttttata gtataagaat ggcatttatt aggcagggca cagtggctca
     3001 cacctgtaat cccagcactt tgggaggccg aggcgggtgg atcacgaggt caggagttcg
     3061 agaccagcct gaccaacatg ctgaaacccc gtctctacta aaaacaaaaa aaaattagcc
     3121 ggggatggtg atgcgcgcct gtaatcccaa ctactcagga ggctgagaca ggagaatcat
     3181 ttgaacccgg gaggtggagg ttgcagtgag cagagatcga gccactgtac tccagcctgg
     3241 gtgacacagg gagcctctgt ctcaaaataa taataataat aaaagaatgg catttattaa
     3301 agtgaaagaa gaatggaaac ccagagtatc ctatagctca gggatgtaat tttagtagga
     3361 gacattatgg ctgctttgct gagtaggctg aagtgtggtg gcaaaggcat aatcagggag
     3421 aacagctagg agactactgc agtaatctag ttgagagagc atgctggctt ggactgaggt
     3481 ggttgctgta gaggtggtat aaagcagtga ggtctaggta tatcctaaag gtaaaatcag
     3541 caagacctgg ggagagtttg gtcatggagt gtgagataaa gagaaccatg tctggggctg
     3601 gagaaattga ggaagattct tgtaggagca agttggtttg gagaagaagg ctggtcagga
     3661 gctcagtttt ctattcaaag gagaaatatc tcatgtagca gttagataca ggagacagga
     3721 actagaggaa agctctgggc tagaagaatg ggaaagtgca tgaacctgga aacaatttta
     3781 taggcagaca ggatgaagga cctcaaggtt agtgataatg aatttaaagt aaatgagacc
     3841 aatgatgagc atggctgtat gtttttcttc aaccgtgtaa agctgtttgg gtgcaggcat
     3901 agagtagatg aaataaattt caccagggct gtggttttgc ccagagtgaa tgaccacatg
     3961 aagaggggca gggtatgatg atggtctgtg gaatttcagc tgggtaagca gggaagtgag
     4021 ggcttgagac ggggggaggg atagtgaaaa tgtacaacca gtggattata ggtgtgttaa
     4081 agtaggggaa ctagaaagaa tgacctggaa atgtaagaag tgggccgggc gcagtggctc
     4141 atgcctgtaa tcccagcact ttaggaggct gaggtgggtg gatcatgagg tccagagatc
     4201 aagaccatcc tggccaatat ggtgcaaccc catctctact aaaaatacaa aaattagctg
     4261 ggcgtggtgg tgtgcctgta gtcccagcta ctagggaggc tgaggcagga gaatcgcttg
     4321 aacccaggat gcgaaggttg cagtgagccg agattgtgcc actgcactcc aggctggcga
     4381 cagagcgaga ctctgtccca aaaaaaaaaa aaagtggtgg gctggccacg atggctcacg
     4441 cctataatcc cagcactttg ggaggccacg gcaagtggat catttaaggt caggagttca
     4501 agaccagtct ggctaatatg atgaaacccc ttctgtatta aaaatacaaa tattagccgg
     4561 gcatggtggc acatgcctgt agtcccagct actcaggagg ctgaggcagg agaatctttg
     4621 aacccaggaa gtgacagtta caacgagcgg agactgtgcc acttcactgc agcctgggtg
     4681 acagggtgag agtctgtctc aaaaaaagaa aaaggaaatg taagaagtgg tgattggaga
     4741 atggtgtgct taattaaaat tgaggttttg aggagttact agtaatgaca aatatgacca
     4801 acggagtgac tggctgaggg gagagaggag aggacttaag caactgtgcc actcagcatt
     4861 ggaaaggtca cctctgtgac attaaaatca agaattctga tagaagtaag agttctggca
     4921 tgagtggtgc ttttccagag tacacttgga tatatgatta cattttaata agttatataa
     4981 atatgcagat attcatgcgg cttttcctca tttgggattt tggaaactaa aatagtagta
     5041 agagcattaa aaaaaagatg tcctggaa
//
