LOCUS       NM_001039372            2145 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant
            1, mRNA.
ACCESSION   NM_001039372
VERSION     NM_001039372.4
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 2145)
  AUTHORS   Kim,S.J., Kim,S.Y., Kim,J.H. and Kim,D.J.
  TITLE     Effects of smoking cessation on gene expression in human leukocytes
            of chronic smoker
  JOURNAL   Psychiatry Investig 11 (3), 290-296 (2014)
   PUBMED   25110502
REFERENCE   2  (bases 1 to 2145)
  AUTHORS   Ozaki,Y., Matsui,H., Asou,H., Nagamachi,A., Aki,D., Honda,H.,
            Yasunaga,S., Takihara,Y., Yamamoto,T., Izumi,S., Ohsugi,M. and
            Inaba,T.
  TITLE     Poly-ADP ribosylation of Miki by tankyrase-1 promotes centrosome
            maturation
  JOURNAL   Mol Cell 47 (5), 694-706 (2012)
   PUBMED   22864114
  REMARK    GeneRIF: The data suggest that PARsylation of Miki by tankyrase-1
            is a key initial event promoting prometaphase.
REFERENCE   3  (bases 1 to 2145)
  AUTHORS   Saugier-Veber,P., Doummar,D., Barthez,M.A., Czernecki,V.,
            Drouot,N., Apartis,E., Burglen,L., Frebourg,T. and Roze,E.
  TITLE     Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion
  JOURNAL   Am J Med Genet A 152A (5), 1244-1249 (2010)
   PUBMED   20425829
REFERENCE   4  (bases 1 to 2145)
  AUTHORS   Asou,H., Matsui,H., Ozaki,Y., Nagamachi,A., Nakamura,M., Aki,D. and
            Inaba,T.
  TITLE     Identification of a common microdeletion cluster in 7q21.3 subband
            among patients with myeloid leukemia and myelodysplastic syndrome
  JOURNAL   Biochem Biophys Res Commun 383 (2), 245-251 (2009)
   PUBMED   19358830
REFERENCE   5  (bases 1 to 2145)
  AUTHORS   Ma,Y., Qi,X., Du,J., Song,S., Feng,D., Qi,J., Zhu,Z., Zhang,X.,
            Xiao,H., Han,Z. and Hao,X.
  TITLE     Identification of candidate genes for human pituitary development
            by EST analysis
  JOURNAL   BMC Genomics 10, 109 (2009)
   PUBMED   19284880
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2145)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK096002.1 and AC000119.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001039372.3.
            
            Summary: This gene encodes a protein related to the immunoglobulin
            superfamily that plays a role in mitosis. Knockdown of this gene
            results in prometaphase arrest, abnormal nuclear morphology and
            apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes
            its translocation to centrosomes, which may stimulate centrosome
            maturation. A chromosomal deletion including this gene may be
            associated with myeloid leukemia and myelodysplastic syndrome in
            human patients. [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK096002.1, DRR138510.30511.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394468.7/ ENSP00000377980.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2092              AK096002.1         4-2095
            2093-2145           AC000119.1         176941-176993       c
FEATURES             Location/Qualifiers
     source          1..2145
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.2"
     gene            1..2145
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="HEPACAM family member 2"
                     /db_xref="GeneID:253012"
                     /db_xref="HGNC:HGNC:27364"
                     /db_xref="MIM:614133"
     exon            1..102
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..1412
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; mitotic kinetics regulator"
                     /codon_start=1
                     /product="HEPACAM family member 2 isoform 1 precursor"
                     /protein_id="NP_001034461.1"
                     /db_xref="CCDS:CCDS43616.1"
                     /db_xref="GeneID:253012"
                     /db_xref="HGNC:HGNC:27364"
                     /db_xref="MIM:614133"
                     /translation="MGQDAFMEPFGDTLGVFQCKIYLLLFGACSGLKVTVPSHTVHGV
                     RGQALYLPVHYGFHTPASDIQIIWLFERPHTMPKYLLGSVNKSVVPDLEYQHKFTMMP
                     PNASLLINPLQFPDEGNYIVKVNIQGNGTLSASQKIQVTVDDPVTKPVVQIHPPSGAV
                     EYVGNMTLTCHVEGGTRLAYQWLKNGRPVHTSSTYSFSPQNNTLHIAPVTKEDIGNYS
                     CLVRNPVSEMESDIIMPIIYYGPYGLQVNSDKGLKVGEVFTVDLGEAILFDCSADSHP
                     PNTYSWIRRTDNTTYIIKHGPRLEVASEKVAQKTMDYVCCAYNNITGRQDETHFTVII
                     TSVGLEKLAQKGKSLSPLASITGISLFLIISMCLLFLWKKYQPYKVIKQKLEGRPETE
                     YRKAQTFSGHEDALDDFGIYEFVAFPDVSGVSRIPSRSVPASDCVSGQDLHSTVYEVI
                     QHIPAQQQDHPE"
     exon            103..453
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /inference="alignment:Splign:2.1.0"
     exon            454..738
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /inference="alignment:Splign:2.1.0"
     exon            739..1035
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /inference="alignment:Splign:2.1.0"
     exon            1036..1161
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1186
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /inference="alignment:Splign:2.1.0"
     exon            1187..1224
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /inference="alignment:Splign:2.1.0"
     exon            1225..1298
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1408
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..2145
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2068..2073
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="hexamer: AATAAA"
     polyA_site      2093
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="major polyA site"
     regulatory      2120..2125
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
                     /note="hexamer: AGTAAA"
     polyA_site      2145
                     /gene="HEPACAM2"
                     /gene_synonym="MIKI"
ORIGIN      
        1 actgagaaca gggcactgca tgcatgggac aggatgcttt catggagccc ttcggtgaca
       61 cacttggggt ctttcagtgc aaaatatacc tccttctctt cggtgcttgc tcggggctga
      121 aggtgacagt gccatcacac actgtccatg gcgtcagagg tcaggccctc tacctacccg
      181 tccactatgg cttccacact ccagcatcag acatccagat catatggcta tttgagagac
      241 cccacacaat gcccaaatac ttactgggct ctgtgaataa gtctgtggtt cctgacttgg
      301 aataccaaca caagttcacc atgatgccac ccaatgcatc tctgcttatc aacccactgc
      361 agttccctga tgaaggcaat tacatcgtga aggtcaacat tcagggaaat ggaactctat
      421 ctgccagtca gaagatacaa gtcacggttg atgatcctgt cacaaagcca gtggtgcaga
      481 ttcatcctcc ctctggggct gtggagtatg tggggaacat gaccctgaca tgccatgtgg
      541 aagggggcac tcggctagct taccaatggc taaaaaatgg gagacctgtc cacaccagct
      601 ccacctactc cttttctccc caaaacaata cccttcatat tgctccagta accaaggaag
      661 acattgggaa ttacagctgc ctggtgagga accctgtcag tgaaatggaa agtgatatca
      721 ttatgcccat catatattat ggaccttatg gacttcaagt gaattctgat aaagggctaa
      781 aagtagggga agtgtttact gttgaccttg gagaggccat cctatttgat tgttctgctg
      841 attctcatcc ccccaacacc tactcctgga ttaggaggac tgacaatact acatatatca
      901 ttaagcatgg gcctcgctta gaagttgcat ctgagaaagt agcccagaag acaatggact
      961 atgtgtgctg tgcttacaac aacataaccg gcaggcaaga tgaaactcat ttcacagtta
     1021 tcatcacttc cgtaggactg gagaagcttg cacagaaagg aaaatcattg tcacctttag
     1081 caagtataac tggaatatca ctatttttga ttatatccat gtgtcttctc ttcctatgga
     1141 aaaaatatca accctacaaa gttataaaac agaaactaga aggcaggcca gaaacagaat
     1201 acaggaaagc tcaaacattt tcaggccatg aagatgctct ggatgacttc ggaatatatg
     1261 aatttgttgc ttttccagat gtttctggtg tttccaggat cccaagcagg tctgttccag
     1321 cctctgattg tgtatcgggg caagatttgc acagtacagt gtatgaagtt attcagcaca
     1381 tccctgccca gcagcaagac catccagagt gaactttcat gggctaaaca gtacattcga
     1441 gtgaaattct gaagaaacat tttaaggaaa aacagtggaa aagtatatta atctggaatc
     1501 agtgaagaaa ccaagaccaa cacctcttac tcattattcc tttacatgca gaatagaggc
     1561 atttatgcaa attgaactgc aggtttttca gcatatacac aatgtcttgt gcaacagaaa
     1621 aacatgttgg ggaaatattc ctcagtggag agtcgttctc atgctgacgg ggagaacgaa
     1681 agtgacaggg gtttcctcat aagttttgta tgaaatatct ctacaaacct caattagttc
     1741 tactctacac tttcactatc atcaacactg agactatcct gtctcaccta caaatgtgga
     1801 aactttacat tgttcgattt ttcagcagac tttgttttat taaattttta ttagtgttaa
     1861 gaatgctaaa tttatgtttc aattttattt ccaaatttct atcttgttat ttgtacaaca
     1921 aagtaataag gatggttgtc acaaaaacaa aactatgcct tctctttttt ttcaatcacc
     1981 agtagtattt ttgagaagac ttgtgaacac ttaaggaaat gactattaaa gtcttatttt
     2041 tatttttttc aaggaaagat ggattcaaat aaattattct gtttttgctt ttatgtggtc
     2101 ttaattcttt gtcttgtaga gtaaaaatat tacataaaaa tcaga
//
