LOCUS       NM_152722               3225 bp    mRNA    linear   PRI 03-MAY-2024
DEFINITION  Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM),
            transcript variant 1, mRNA.
ACCESSION   NM_152722
VERSION     NM_152722.5
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 3225)
  AUTHORS   Chen,E., Liu,N., Zhao,Y., Tang,M., Ou,L., Wu,X. and Luo,C.
  TITLE     Panobinostat reverses HepaCAM gene expression and suppresses
            proliferation by increasing histone acetylation in prostate cancer
  JOURNAL   Gene 808, 145977 (2022)
   PUBMED   34592353
  REMARK    GeneRIF: Panobinostat reverses HepaCAM gene expression and
            suppresses proliferation by increasing histone acetylation in
            prostate cancer.
REFERENCE   2  (bases 1 to 3225)
  AUTHORS   Li,T., Liu,N., Gao,Y., Quan,Z., Hao,Y., Yu,C., Li,L., Yuan,M.,
            Niu,L., Luo,C. and Wu,X.
  TITLE     Long noncoding RNA HOTAIR regulates the invasion and metastasis of
            prostate cancer by targeting hepaCAM
  JOURNAL   Br J Cancer 124 (1), 247-258 (2021)
   PUBMED   33024272
  REMARK    GeneRIF: Long noncoding RNA HOTAIR regulates the invasion and
            metastasis of prostate cancer by targeting hepaCAM.
REFERENCE   3  (bases 1 to 3225)
  AUTHORS   Xu,M., Jin,B. and Guo,H.
  TITLE     [Analysis of a child with megalencephalic leukoencephalopathy with
            subcortical cyst type 2B caused by HEPACAM variant]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 37 (5), 543-546 (2020)
   PUBMED   32335882
  REMARK    GeneRIF: The heterozygous variant of the HEPACAM gene probably
            underlies the megalencephalic leukoencephalopathy with subcortical
            cyst in this child
REFERENCE   4  (bases 1 to 3225)
  AUTHORS   Elorza-Vidal,X., Xicoy-Espaulella,E., Pla-Casillanis,A.,
            Alonso-Gardon,M., Gaitan-Penas,H., Engel-Pizcueta,C.,
            Fernandez-Recio,J. and Estevez,R.
  TITLE     Structural basis for the dominant or recessive character of
            GLIALCAM mutations found in leukodystrophies
  JOURNAL   Hum Mol Genet 29 (7), 1107-1120 (2020)
   PUBMED   31960914
  REMARK    GeneRIF: Structural basis for the dominant or recessive character
            of GLIALCAM mutations found in leukodystrophies.
REFERENCE   5  (bases 1 to 3225)
  AUTHORS   Favre-Kontula,L., Rolland,A., Bernasconi,L., Karmirantzou,M.,
            Power,C., Antonsson,B. and Boschert,U.
  TITLE     GlialCAM, an immunoglobulin-like cell adhesion molecule is
            expressed in glial cells of the central nervous system
  JOURNAL   Glia 56 (6), 633-645 (2008)
   PUBMED   18293412
  REMARK    GeneRIF: GlialCAM, an immunoglobulin-like cell adhesion molecule is
            expressed in glial cells of the central nervous system.
REFERENCE   6  (bases 1 to 3225)
  AUTHORS   Gaudry,J.P., Arod,C., Sauvage,C., Busso,S., Dupraz,P.,
            Pankiewicz,R. and Antonsson,B.
  TITLE     Purification of the extracellular domain of the membrane protein
            GlialCAM expressed in HEK and CHO cells and comparison of the
            glycosylation
  JOURNAL   Protein Expr Purif 58 (1), 94-102 (2008)
   PUBMED   18082421
  REMARK    GeneRIF: study examined the glycosylation of the GlialCAM (hepaCAM)
            extracellular domain expressed in HEK and CHO cells
REFERENCE   7  (bases 1 to 3225)
  AUTHORS   Moh,M.C., Zhang,C., Luo,C., Lee,L.H. and Shen,S.
  TITLE     Structural and functional analyses of a novel ig-like cell adhesion
            molecule, hepaCAM, in the human breast carcinoma MCF7 cells
  JOURNAL   J Biol Chem 280 (29), 27366-27374 (2005)
   PUBMED   15917256
  REMARK    GeneRIF: the cytoplasmic domain of hepaCAM is essential to its
            function on cell-matrix interaction and cell motility
REFERENCE   8  (bases 1 to 3225)
  AUTHORS   Chung Moh,M., Hoon Lee,L. and Shen,S.
  TITLE     Cloning and characterization of hepaCAM, a novel Ig-like cell
            adhesion molecule suppressed in human hepatocellular carcinoma
  JOURNAL   J Hepatol 42 (6), 833-841 (2005)
   PUBMED   15885354
  REMARK    GeneRIF: encodes an Ig-like transmembrane glycoprotein and is
            involved in cell adhesion and growth control
REFERENCE   9  (bases 1 to 3225)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
            Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   10 (bases 1 to 3225)
  AUTHORS   Min,R., Abbink,T.E.M. and van der Knaap,M.S.
  TITLE     Megalencephalic Leukoencephalopathy with Subcortical Cysts
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
            Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301707
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA239226.1, BC113562.1,
            AY047587.1, BC037810.1 and AP003501.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_152722.4.
            
            Summary: The protein encoded by this gene is a single-pass type I
            membrane protein that localizes to the cytoplasmic side of the cell
            membrane. The encoded protein acts as a homodimer and is involved
            in cell motility and cell-matrix interactions. The expression of
            this gene is downregulated or undetectable in many cancer cell
            lines, so this may be a tumor suppressor gene. [provided by RefSeq,
            Jul 2011].
            
            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 :: AY047587.1, BC104831.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298251.5/ ENSP00000298251.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                DA239226.1         367-379
            14-1683             BC113562.1         1-1670
            1684-1751           AY047587.1         1687-1754
            1752-3180           AY047587.1         1758-3186
            3181-3181           BC037810.1         1346-1346
            3182-3225           AP003501.2         54285-54328         c
FEATURES             Location/Qualifiers
     source          1..3225
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..3225
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
                     /note="hepatic and glial cell adhesion molecule"
                     /db_xref="GeneID:220296"
                     /db_xref="HGNC:HGNC:26361"
                     /db_xref="MIM:611642"
     exon            1..126
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..1292
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; hepatocyte cell adhesion molecule; protein
                     hepaCAM; Putative cancer susceptibility gene HEPN1
                     protein"
                     /codon_start=1
                     /product="hepatic and glial cell adhesion molecule isoform
                     1 precursor"
                     /protein_id="NP_689935.2"
                     /db_xref="CCDS:CCDS8456.1"
                     /db_xref="GeneID:220296"
                     /db_xref="HGNC:HGNC:26361"
                     /db_xref="MIM:611642"
                     /translation="MKRERGALSRASRALRLAPFVYLLLIQTDPLEGVNITSPVRLIH
                     GTVGKSALLSVQYSSTSSDRPVVKWQLKRDKPVTVVQSIGTEVIGTLRPDYRDRIRLF
                     ENGSLLLSDLQLADEGTYEVEISITDDTFTGEKTINLTVDVPISRPQVLVASTTVLEL
                     SEAFTLNCSHENGTKPSYTWLKDGKPLLNDSRMLLSPDQKVLTITRVLMEDDDLYSCM
                     VENPISQGRSLPVKITVYRRSSLYIILSTGGIFLLVTLVTVCACWKPSKRKQKKLEKQ
                     NSLEYMDQNDDRLKPEADTLPRSGEQERKNPMALYILKDKDSPETEENPAPEPRSATE
                     PGPPGYSVSPAVPGRSPGLPIRSARRYPRSPARSPATGRTHSSPPRAPSSPGRSRSAS
                     RTLRTAGVHIIREQDEAGPVEISA"
     exon            127..468
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
                     /inference="alignment:Splign:2.1.0"
     exon            469..750
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
                     /inference="alignment:Splign:2.1.0"
     exon            751..844
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
                     /inference="alignment:Splign:2.1.0"
     exon            845..918
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
                     /inference="alignment:Splign:2.1.0"
     exon            919..989
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
                     /inference="alignment:Splign:2.1.0"
     exon            990..3225
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3164..3169
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
                     /note="hexamer: AATAAA"
     polyA_site      3186
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
                     /note="major polyA site"
     regulatory      3203..3208
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
                     /note="hexamer: CATAAA"
     regulatory      3207..3212
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
                     /note="hexamer: AACAAG"
     polyA_site      3222
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
     polyA_site      3225
                     /gene="HEPACAM"
                     /gene_synonym="GlialCAM; HEPN1; MLC2A; MLC2B"
ORIGIN      
        1 atgctaattg tctgcactag agctggagaa cgccacccaa aatgaagaga gaaaggggag
       61 ccctgtccag agcctccagg gccctgcgcc ttgctccttt tgtctacctt cttctgatcc
      121 agacagaccc cctggagggg gtgaacatca ccagccccgt gcgcctgatc catggcaccg
      181 tggggaagtc ggctctgctt tctgtgcagt acagcagtac cagcagcgac aggcctgtag
      241 tgaagtggca gctgaagcgg gacaagccag tgaccgtggt gcagtccatt ggcacagagg
      301 tcatcggcac cctgcggcct gactatcgag accgtatccg actctttgaa aatggctccc
      361 tgcttctcag cgacctgcag ctggccgatg agggcaccta tgaggtcgag atctccatca
      421 ccgacgacac cttcactggg gagaagacca tcaaccttac tgtagatgtg cccatttcga
      481 ggccacaggt gttggtggct tcaaccactg tgctggagct cagcgaggcc ttcaccttga
      541 actgctcaca tgagaatggc accaagccca gctacacctg gctgaaggat ggcaagcccc
      601 tcctcaatga ctcgagaatg ctcctgtccc ccgaccaaaa ggtgctcacc atcacccgcg
      661 tgctcatgga ggatgacgac ctgtacagct gcatggtgga gaaccccatc agccagggcc
      721 gcagcctgcc tgtcaagatc accgtataca gaagaagctc cctttacatc atcttgtcta
      781 caggaggcat cttcctcctt gtgaccttgg tgacagtctg tgcctgctgg aaaccctcca
      841 aaaggaaaca gaagaagcta gaaaagcaaa actccctgga atacatggat cagaatgatg
      901 accgcctgaa accagaagca gacaccctcc ctcgaagtgg tgagcaggaa cggaagaacc
      961 ccatggcact ctatatcctg aaggacaagg actccccgga gaccgaggag aacccggccc
     1021 cggagcctcg aagcgcgacg gagcccggcc cgcccggcta ctccgtgtct cccgccgtgc
     1081 ccggccgctc gccggggctg cccatccgct ctgcccgccg ctacccgcgc tccccagcgc
     1141 gctccccagc caccggccgg acacactcgt cgccgcccag ggccccgagc tcgcccggcc
     1201 gctcgcgcag cgcctcgcgc acactgcgga ctgcgggcgt gcacataatc cgcgagcaag
     1261 acgaggccgg cccggtggag atcagcgcct gagccgcctc gggatcccct gagaggcgcc
     1321 cgcggtctgc ggccagtggc ccgggggaaa gctggggctg ggaagcccgg gcgcggcgcg
     1381 ctggggacga ggggaggtcc cgggggggcg ctggtgtctc gggtgtgaac gtgtatgagc
     1441 atgcgcagac ggaggcgggt gcgcggaggc ggcagtgttg atatggtgaa accgggtcgc
     1501 atttgcttcc ggtttactgg ctgtgtcctc acttggtata ggttgtgccc tcttaggacc
     1561 acatagatta ttacatttct ggcccaatac ccaaaagggt tttatggaaa ctaacatcag
     1621 taacctaacc cccgtgacta tcctgtgctc ttcctaggga gctgtgttgt ttcccaccca
     1681 ccacccttcc ctctgaacaa atgcctgagt gctggggcac tttttttttt tttttttttt
     1741 tttttttttt tgcaagttca gattagagag gccactttcc cagaatccac agctgcacta
     1801 agctaaggag aagccagatg ccggttactg ggtgtgcagg ggctgttctg agctgggggg
     1861 atcattgtga aggccttctt ccctgggcac ctggtacctg gggacctaca aggtggtgag
     1921 ggaagggtac gagtacattc cttttccctc tgacctgggc gctagcaagg gcaaagaacc
     1981 cgagcctgcc agcttggcct cctcccacag cctccctcgg aggcatgcca tgccaagcac
     2041 tctttctgtc tctgttcatg aataaaagag atggatgggc ttattcttat agagaagtga
     2101 atttcactta ctcccctggc ccgaaaacta gaccaaatga ggaactgttt tagctcatca
     2161 aactcatata ttcctcctgg cttccttaca aaacaagcct ttcaaacaat cattgtcctc
     2221 aggaaagttg ttgagcttcc tccagctgtg agaataagtc ctaatctcca gagaaatggt
     2281 ggggggagga ggaggcttat tgcttcccag catttggggg gaacatgatc caacccctgg
     2341 cctcctgcca cccatctgcc ctgctcccac atgctcaggt cccagggcac agaaaaaggg
     2401 cagactccct aatcacacta acatcaaaat aaagaggctg ggccgctgtg tagccaggac
     2461 atgcccatgc caccgcctat tgaacagttc ataggagtgg cagtaatcta ctgtgtgagg
     2521 agagagggca attaaaaagc tgaaagagaa ggaggccctc tgtgtattcc attccctcct
     2581 ccttaatgcc tccaagggtc cttgcatccc tagtctccta aactccagct ctgattcgcc
     2641 atcaacccat ggagcaattc caaggcccca gttacccatc acctccacac caggtcaagt
     2701 tttgtctcag ccccaaaggc actgacattt ctagtttgcc ccctctgccc tgaaccccac
     2761 agcatgcctg tctcagctcc ctgtccctcg gcacttcccc aggctcattt gagcaggtgt
     2821 gccttcgcag ctcccctaaa cttcccaggt gcctcatcca taatgagata atgcatgtag
     2881 gggaaaagtt tctcaagaag gtggaagagg cagcaggact tggataagga gtacctgctg
     2941 gtcagccttg agatgcacag gtgaaggtta gggtgagatg agaacatgcc ataccctggt
     3001 gctgaatccc tgaggggcca gcttgccagg cttaagccaa atctgcctta aattgggggt
     3061 ggggaggggt aagtaaggaa gtggggtttg tttttgtgtt gttttcatct tcatctttgt
     3121 attactagca tccagcagag tgcctagcac atactggatg ctcaataaac ttttgatgaa
     3181 atgaaatgac aactttattc cacataaaca agggtaacaa aacaa
//
