LOCUS       NM_001387751            2774 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens dematin actin binding protein (DMTN), transcript
            variant 61, mRNA.
ACCESSION   NM_001387751
VERSION     NM_001387751.1
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 2774)
  AUTHORS   Wang,M., Chen,B., Zhang,W., Zhang,F., Qiu,Y., Lin,Y. and Yang,S.
  TITLE     Dematin inhibits glioblastoma malignancy through RhoA-mediated CDKs
            downregulation and cytoskeleton remodeling
  JOURNAL   Exp Cell Res 417 (1), 113196 (2022)
   PUBMED   35561787
  REMARK    GeneRIF: Dematin inhibits glioblastoma malignancy through
            RhoA-mediated CDKs downregulation and cytoskeleton remodeling.
REFERENCE   2  (bases 1 to 2774)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2774)
  AUTHORS   Brandt,G.S. and Bailey,S.
  TITLE     Dematin, a human erythrocyte cytoskeletal protein, is a substrate
            for a recombinant FIKK kinase from Plasmodium falciparum
  JOURNAL   Mol Biochem Parasitol 191 (1), 20-23 (2013)
   PUBMED   23973789
REFERENCE   4  (bases 1 to 2774)
  AUTHORS   Chen,L., Brown,J.W., Mok,Y.F., Hatters,D.M. and McKnight,C.J.
  TITLE     The allosteric mechanism induced by protein kinase A (PKA)
            phosphorylation of dematin (band 4.9)
  JOURNAL   J Biol Chem 288 (12), 8313-8320 (2013)
   PUBMED   23355471
  REMARK    GeneRIF: When unphosphorylated, dematin's two F-actin binding
            domains move independent of one another permitting them to bind
            different F-actin filaments.
            Erratum:[J Biol Chem. 2015 Jul 17;290(29):17808. doi:
            10.1074/jbc.A112.438861.. PMID: 26188045]
REFERENCE   5  (bases 1 to 2774)
  AUTHORS   Mohseni,M. and Chishti,A.H.
  TITLE     Erythrocyte dematin is a candidate gene for Marie Unna hereditary
            hypotrichosis and related hairloss disorders
  JOURNAL   Am J Hematol 83 (5), 430-432 (2008)
   PUBMED   18273904
REFERENCE   6  (bases 1 to 2774)
  AUTHORS   Lutchman,M., Kim,A.C., Cheng,L., Whitehead,I.P., Oh,S.S.,
            Hanspal,M., Boukharov,A.A., Hanada,T. and Chishti,A.H.
  TITLE     Dematin interacts with the Ras-guanine nucleotide exchange factor
            Ras-GRF2 and modulates mitogen-activated protein kinase pathways
  JOURNAL   Eur J Biochem 269 (2), 638-649 (2002)
   PUBMED   11856323
REFERENCE   7  (bases 1 to 2774)
  AUTHORS   Lutchman,M., Pack,S., Kim,A.C., Azim,A., Emmert-Buck,M., van
            Huffel,C., Zhuang,Z. and Chishti,A.H.
  TITLE     Loss of heterozygosity on 8p in prostate cancer implicates a role
            for dematin in tumor progression
  JOURNAL   Cancer Genet Cytogenet 115 (1), 65-69 (1999)
   PUBMED   10565303
REFERENCE   8  (bases 1 to 2774)
  AUTHORS   Azim,A.C., Marfatia,S.M., Korsgren,C., Dotimas,E., Cohen,C.M. and
            Chishti,A.H.
  TITLE     Human erythrocyte dematin and protein 4.2 (pallidin) are ATP
            binding proteins
  JOURNAL   Biochemistry 35 (9), 3001-3006 (1996)
   PUBMED   8608138
REFERENCE   9  (bases 1 to 2774)
  AUTHORS   Azim,A.C., Knoll,J.H., Beggs,A.H. and Chishti,A.H.
  TITLE     Isoform cloning, actin binding, and chromosomal localization of
            human erythroid dematin, a member of the villin superfamily
  JOURNAL   J Biol Chem 270 (29), 17407-17413 (1995)
   PUBMED   7615546
REFERENCE   10 (bases 1 to 2774)
  AUTHORS   Rana,A.P., Ruff,P., Maalouf,G.J., Speicher,D.W. and Chishti,A.H.
  TITLE     Cloning of human erythroid dematin reveals another member of the
            villin family
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6651-6655 (1993)
   PUBMED   8341682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC091171.15.
            
            Summary: The protein encoded by this gene is an actin binding and
            bundling protein that plays a structural role in erythrocytes, by
            stabilizing and attaching the spectrin/actin cytoskeleton to the
            erythrocyte membrane in a phosphorylation-dependent manner. This
            protein contains a core domain in the N-terminus, and a headpiece
            domain in the C-terminus that binds F-actin. When purified from
            erythrocytes, this protein exists as a trimer composed of two 48
            kDa polypeptides and a 52 kDa polypeptide. The different subunits
            arise from alternative splicing in the 3' coding region, where the
            headpiece domain is located. Disruption of this gene has been
            correlated with the autosomal dominant Marie Unna hereditary
            hypotrichosis disease, while loss of heterozygosity of this gene is
            thought to play a role in prostate cancer progression. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Nov 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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##
            CDS exon combination :: BT007396.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1968540, SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358242.6/ ENSP00000350977.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-323               AC091171.15        107288-107610
            324-512             AC091171.15        117179-117367
            513-587             AC091171.15        117559-117633
            588-743             AC091171.15        118001-118156
            744-788             AC091171.15        119490-119534
            789-888             AC091171.15        119893-119992
            889-945             AC091171.15        120355-120411
            946-1098            AC091171.15        120656-120808
            1099-1223           AC091171.15        122800-122924
            1224-1329           AC091171.15        124204-124309
            1330-1394           AC091171.15        130654-130718
            1395-1443           AC091171.15        130886-130934
            1444-1451           AC091171.15        131092-131099
            1452-1517           AC091171.15        131279-131344
            1518-1598           AC091171.15        131587-131667
            1599-2774           AC091171.15        131824-132999
FEATURES             Location/Qualifiers
     source          1..2774
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     gene            1..2774
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /note="dematin actin binding protein"
                     /db_xref="GeneID:2039"
                     /db_xref="HGNC:HGNC:3382"
                     /db_xref="MIM:125305"
     exon            1..323
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     exon            324..512
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     CDS             495..1712
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /note="isoform 1 is encoded by transcript variant 61;
                     erythrocyte membrane protein band 4.9 (dematin)"
                     /codon_start=1
                     /product="dematin isoform 1"
                     /protein_id="NP_001374680.1"
                     /db_xref="CCDS:CCDS6020.1"
                     /db_xref="GeneID:2039"
                     /db_xref="HGNC:HGNC:3382"
                     /db_xref="MIM:125305"
                     /translation="MERLQKQPLTSPGSVSPSRDSSVPGSPSSIVAKMDNQVLGYKDL
                     AAIPKDKAILDIERPDLMIYEPHFTYSLLEHVELPRSRERSLSPKSTSPPPSPEVWAD
                     SRSPGIISQASAPRTTGTPRTSLPHFHHPETSRPDSNIYKKPPIYKQRESVGGSPQTK
                     HLIEDLIIESSKFPAAQPPDPNQPAKIETDYWPCPPSLAVVETEWRKRKASRRGAEEE
                     EEEEDDDSGEEMKALRERQREELSKVTSNLGKMILKEEMEKSLPIRRKTRSLPDRTPF
                     HTSLHQGTSKSSSLPAYGRTTLSRLQSTEFSPSGSETGSPGLQNGEGQRGRMDRGNSL
                     PCVLEQKIYPYEMLVVTNKGRTKLPPGVDRMRLERHLSAEDFSRVFAMSPEEFGKLAL
                     WKRNELKKKASLF"
     exon            513..587
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     exon            588..743
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     exon            744..788
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     exon            789..888
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     exon            889..945
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     exon            946..1098
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1223
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     exon            1224..1329
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1394
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     exon            1395..1443
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1451
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..1517
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     exon            1518..1598
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..2774
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2750..2755
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /note="hexamer: ATTAAA"
     polyA_site      2774
                     /gene="DMTN"
                     /gene_synonym="DMT; EPB49"
                     /note="major polyA site"
ORIGIN      
        1 agacgaggac tccccagcac cgggggatcc aggcggccgt gcgttgcaga gaagcagggt
       61 gggggcaagg agggtggggg cccagagggg agatcagacc gctcagccga gaccagctcc
      121 cctccttcgc cagctcccac cccgcccacc caccctaagc cggcattttt cctgttattt
      181 gtgctccggg gaagcgccgc ggggttcctg gaagagacac ctattaccta ggctcctggg
      241 ggaagtgaca gcccgtggat ctggcctacg cctctcgggc ctctgtggcc tcagagcgtc
      301 tgggccacac tgtctgggaa gagcctggag agtcaccgcc gagggatgag gacgcgccag
      361 cccgggggaa cgcgccagct gctttcgcgg ccccaagcgc gcagcgccca gcagccgcgc
      421 cgagcctgac acgctgtcct ctcccctcgc gcacagggct ctgcgagtga cccggcgggc
      481 gagctccgtg ctgcatggaa cggctgcaga agcaaccact tacctccccc gggagcgtga
      541 gcccctcccg agattccagt gtgcctggct ctccctccag catcgtggcc aagatggaca
      601 atcaggtgct gggctacaag gacctggctg ccatccccaa ggacaaggcc atcctggaca
      661 tcgagcggcc cgacctcatg atctacgagc ctcacttcac ttattccctc ctggaacacg
      721 tggagctgcc tcgcagccgc gagcgctcgc tgtcacccaa atccacatcc cccccaccat
      781 ccccagaggt gtgggcggac agccggtcgc ctggaatcat ctctcaggcc tcggccccca
      841 gaaccactgg aaccccccgg accagcctgc cccatttcca ccaccctgag acctcccgcc
      901 cagattccaa catctacaag aagcctccca tctataagca gagagagtcc gtgggaggca
      961 gccctcagac caagcacctc atcgaggatc tcatcatcga gtcatccaag tttcctgcag
     1021 cccagccccc agaccccaac cagccagcca aaatcgaaac cgactactgg ccatgccccc
     1081 cgtctctggc tgttgtggag acagaatgga ggaagcggaa ggcgtctcgg aggggagcag
     1141 aggaagagga ggaggaggaa gatgacgact ctggagagga gatgaaggct ctcagggagc
     1201 gtcagagaga ggaactcagt aaggttactt ccaacttggg aaagatgatc ttgaaagaag
     1261 agatggaaaa gtcattgccg atccgaagga aaacccgctc tctgcctgac cggacaccct
     1321 tccatacctc cttgcaccag ggaacgtcta aatcttcctc tctccccgcc tatggcagga
     1381 ccaccctgag ccggctacag tccacagagt tcagcccatc agggagtgag actggaagcc
     1441 caggcctgca gaacggagag ggccagaggg ggaggatgga ccgggggaac tccctgccct
     1501 gtgtgctgga gcagaagatc tatccctatg aaatgctagt ggtgaccaac aaggggcgaa
     1561 ccaagctgcc accgggggtg gatcggatgc ggcttgagag gcatctgtct gccgaggact
     1621 tctcaagggt atttgccatg tcccctgaag agtttggcaa gctggctctg tggaagcgga
     1681 atgagctcaa gaagaaggcc tctctcttct gatggccccc acctgctccg ggacggcccc
     1741 cttacccctg ctgcttcagg gtttttcccc ggcgggttgg gaggggcagg aggtggggtg
     1801 gaaatagggt gggctccttt cctcaggtag agtggggggc caaaacctct gcagtccccg
     1861 gcagtgagct atggactttc ttccccctca caaggctggg ggcctcctgc tctcgtccct
     1921 ggccctccct gcacagggca aagccagtct gggctctggc acacagagtt catgtttgcg
     1981 ccctctccct gcccctcacc ccagagggtg aggaggaatg aggggcattg gtggttaggc
     2041 cggttggctg tcttgaacag ctggagggaa gatgcagggg tgggaagcgg ccaggcagaa
     2101 agagctccag gctcttgtgt cgcccaccca gccctcccat actcactcct gacagctttc
     2161 ctgcactgca gcctcctgct cctctgactc tagtgggaac aggccccagc tcagcctccg
     2221 gcagggaggt cacccctcca cttcagcttg ccctgacctc cgctcgcaaa ccccgagctt
     2281 ccaagccttt tgctccagcc ctgcggcttc cccagaagcc tgggcttagg gtggagatgc
     2341 cgcctacaca cgatcctggc cctccacctg cctccaggcc acgaaatggg aattccagca
     2401 ctaagccagg caccgggcag aagctgggcc ttccgcctcc cttggatggg gtcaagaggc
     2461 caggcctggc acattttgga gtgtcctggc taccagctct cacctacacc cacgcacccc
     2521 cccacacact atgctctctc aagaatgtaa tttattgggg cccccccagc tgctttcctc
     2581 acctgcccct gccctacctt acacccccag cttgacttct ttccagtcca cgtgtgtata
     2641 taatgatatc tatatttttg cccaggtctg ggtattgctc ctgcccagac cctgacatcc
     2701 ctttccactg tgtgtgtgac catgctgggg gagggggact ctgcttggaa ttaaaaggtt
     2761 gcattgggtc ccta
//
