LOCUS       NM_001281747            3344 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens muscular LMNA interacting protein (MLIP), transcript
            variant 1, mRNA.
ACCESSION   NM_001281747 XM_005249475
VERSION     NM_001281747.2
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 3344)
  AUTHORS   He,X., Liu,J., Gu,F., Chen,J., Lu,Y.W., Ding,J., Guo,H., Nie,M.,
            Kataoka,M., Lin,Z., Hu,X., Chen,H., Liao,X., Dong,Y., Min,W.,
            Deng,Z.L., Pu,W.T., Huang,Z.P. and Wang,D.Z.
  TITLE     Cardiac CIP protein regulates dystrophic cardiomyopathy
  JOURNAL   Mol Ther 30 (2), 898-914 (2022)
   PUBMED   34400329
  REMARK    GeneRIF: Cardiac CIP protein regulates dystrophic cardiomyopathy.
REFERENCE   2  (bases 1 to 3344)
  AUTHORS   Lopes Abath Neto,O., Medne,L., Donkervoort,S.,
            Rodriguez-Garcia,M.E., Bolduc,V., Hu,Y., Guadagnin,E., Foley,A.R.,
            Brandsema,J.F., Glanzman,A.M., Tennekoon,G.I., Santi,M.,
            Berger,J.H., Megeney,L.A., Komaki,H., Inoue,M.,
            Cotrina-Vinagre,F.J., Hernandez-Lain,A., Martin-Hernandez,E.,
            Williams,L., Borell,S., Schorling,D., Lin,K., Kolokotronis,K.,
            Lichter-Konecki,U., Kirschner,J., Nishino,I., Banwell,B.,
            Martinez-Azorin,F., Burgon,P.G. and Bonnemann,C.G.
  TITLE     MLIP causes recessive myopathy with rhabdomyolysis, myalgia and
            baseline elevated serum creatine kinase
  JOURNAL   Brain 144 (9), 2722-2731 (2021)
   PUBMED   34581780
  REMARK    GeneRIF: MLIP causes recessive myopathy with rhabdomyolysis,
            myalgia and baseline elevated serum creatine kinase.
REFERENCE   3  (bases 1 to 3344)
  AUTHORS   Canut,M.I., Villa,O., Kudsieh,B., Mattlin,H., Banchs,I.,
            Gonzalez,J.R., Armengol,L. and Casaroli-Marano,R.P.
  TITLE     MLIP genotype as a predictor of pharmacological response in primary
            open-angle glaucoma and ocular hypertension
  JOURNAL   Sci Rep 11 (1), 1583 (2021)
   PUBMED   33452295
  REMARK    GeneRIF: MLIP genotype as a predictor of pharmacological response
            in primary open-angle glaucoma and ocular hypertension.
            Erratum:[Sci Rep. 2021 Apr 9;11(1):8237. doi:
            10.1038/s41598-021-87653-6.. PMID: 33837244]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3344)
  AUTHORS   Liu,J., Huang,Z.P., Nie,M., Wang,G., Silva,W.J., Yang,Q.,
            Freire,P.P., Hu,X., Chen,H., Deng,Z., Pu,W.T. and Wang,D.Z.
  TITLE     Regulation of myonuclear positioning and muscle function by the
            skeletal muscle-specific CIP protein
  JOURNAL   Proc Natl Acad Sci U S A 117 (32), 19254-19265 (2020)
   PUBMED   32719146
  REMARK    GeneRIF: Regulation of myonuclear positioning and muscle function
            by the skeletal muscle-specific CIP protein.
REFERENCE   5  (bases 1 to 3344)
  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   6  (bases 1 to 3344)
  AUTHORS   Willenbrock,K., Ichinohasama,R., Kadin,M.E., Miura,I., Terui,T.,
            Meguro,K., Fukuhara,O., DeCoteau,J.F. and Hansmann,M.L.
  TITLE     T-cell variant of classical Hodgkin's lymphoma with nodal and
            cutaneous manifestations demonstrated by single-cell polymerase
            chain reaction
  JOURNAL   Lab Invest 82 (9), 1103-1109 (2002)
   PUBMED   12218070
REFERENCE   7  (bases 1 to 3344)
  AUTHORS   Zemlin,M., Bauer,K., Hummel,M., Pfeiffer,S., Devers,S., Zemlin,C.,
            Stein,H. and Versmold,H.T.
  TITLE     The diversity of rearranged immunoglobulin heavy chain variable
            region genes in peripheral blood B cells of preterm infants is
            restricted by short third complementarity-determining regions but
            not by limited gene segment usage
  JOURNAL   Blood 97 (5), 1511-1513 (2001)
   PUBMED   11222402
REFERENCE   8  (bases 1 to 3344)
  AUTHORS   Costello,P.J., Winchester,R.J., Curran,S.A., Peterson,K.S.,
            Kane,D.J., Bresnihan,B. and FitzGerald,O.M.
  TITLE     Psoriatic arthritis joint fluids are characterized by CD8 and CD4 T
            cell clonal expansions appear antigen driven
  JOURNAL   J Immunol 166 (4), 2878-2886 (2001)
   PUBMED   11160357
REFERENCE   9  (bases 1 to 3344)
  AUTHORS   Harfst,E., Cooper,S., Neubauer,S., Distel,L. and Grawunder,U.
  TITLE     Normal V(D)J recombination in cells from patients with Nijmegen
            breakage syndrome
  JOURNAL   Mol Immunol 37 (15), 915-929 (2000)
   PUBMED   11282395
REFERENCE   10 (bases 1 to 3344)
  AUTHORS   Slachta,C.A., Jeevanandam,V., Goldman,B., Lin,W.L. and
            Platsoucas,C.D.
  TITLE     Coronary arteries from human cardiac allografts with chronic
            rejection contain oligoclonal T cells: persistence of identical
            clonally expanded TCR transcripts from the early
            post-transplantation period (endomyocardial biopsies) to chronic
            rejection (coronary arteries)
  JOURNAL   J Immunol 165 (6), 3469-3483 (2000)
   PUBMED   10975868
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC322019.1, AK294890.1, AL139389.16, AL359380.16 and BC009010.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001281747.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: SRR1803616.12535.1,
                                           SRR1660807.29880.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000502396.6/ ENSP00000426290.1
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 DC322019.1         26-30
            6-544               AK294890.1         2-540
            545-545             AL139389.16        150154-150154
            546-2599            AK294890.1         542-2595
            2600-2600           AL359380.16        31847-31847
            2601-3107           AK294890.1         2597-3103
            3108-3109           AL359380.16        108003-108004
            3110-3344           BC009010.1         841-1075
FEATURES             Location/Qualifiers
     source          1..3344
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.1"
     gene            1..3344
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /note="muscular LMNA interacting protein"
                     /db_xref="GeneID:90523"
                     /db_xref="HGNC:HGNC:21355"
                     /db_xref="MIM:614106"
     exon            1..133
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..3019
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /note="isoform 1 is encoded by transcript variant 1;
                     muscle-enriched A-type lamin interacting protein;
                     muscular-enriched A-type laminin-interacting protein;
                     cardiac ISL1-interacting protein"
                     /codon_start=1
                     /product="muscular LMNA-interacting protein isoform 1"
                     /protein_id="NP_001268676.1"
                     /db_xref="CCDS:CCDS64449.1"
                     /db_xref="GeneID:90523"
                     /db_xref="HGNC:HGNC:21355"
                     /db_xref="MIM:614106"
                     /translation="MLSEQGLLSDCGNNYFQMTSCILSGSIQTTPQVSAGGSEAKPLI
                     FTFVPTVRRLPTHTQLADTSKFLVKIPEESSDKSPETVNRSKSNDYLTLNAGSQQERD
                     QAKLTCPSEVSGTILQEREFEANKLQGMQQSDLFKAEYVLIVDSEGEDEAASRKVEQG
                     PPGGIGTAAVRPKSLAISSSLVSDVVRPKTQGTDLKTSSHPEMLHGMAPQQKHGQLTS
                     SPTTSEQLACKPPAFSFVSPTNPNTPPDPVNLEGASVLEEFHTRRLDVGGAVVEESAT
                     YFQTTAHSTPFSASKGTSSTLLFPHSTQLSGSNLPSSTAADPKPGLTSEVLKKTTLTS
                     HVLSHGESPRTSSSPPSSSASLKSNSASYIPVRIVTHSLSPSPKPFTSSFHGSSSTIC
                     SQMSSSGNLSKSGVKSPVPSRLALLTAILKSNPSHQRPFSPASCPTFSLNSPASSTLT
                     LDQKEKQTPPTPKKSLSSCSLRAGSPDQGELQVSELTQQSFHLPVFTKSTPLSQAPSL
                     SPTKQASSSLASMNVERTPSPTLKSNTMLSLLQTSTSSSVGLPPVPPSSSLSSLKSKQ
                     DGDLRGPENPRNIHTYPSTLASSALSSLSPPINQRATFSSSEKCFHPSPALSSLINRS
                     KRASSQLSGQELNPSALPSLPVSSADFASLPNLRSSSLPHANLPTLVPQLSPSALHPH
                     CGSGTLPSRLGKSESTTPNHRSPVSTPSLPISLTRTEELISPCALSMSTGPENKKSKQ
                     YKTKSSYKAFAAIPTNTLLLEQKALDEPAKTESVSKDNTLEPPVELYFPAQLRQQTEE
                     LCATIDKVLQDSLSMHSSDSPSRSPKTLLGSDTVKTPTTLPRAAGRETKYANLSSPSS
                     TVSESQLTKPGVIRPVPVKSRILLKKEEEVYEPNPFSKYLEDNSDLFSEQDVTVPPKP
                     VSLHPLYQTKLYPPAKSLLHPQTLSHADCLAPGPFSHLSFSLSDEQENSHTLLSHNAC
                     NKLSHPMVAIPEHEALDSKEQ"
     exon            134..289
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /inference="alignment:Splign:2.1.0"
     exon            290..682
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /inference="alignment:Splign:2.1.0"
     exon            683..2254
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /inference="alignment:Splign:2.1.0"
     exon            2255..2326
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /inference="alignment:Splign:2.1.0"
     exon            2327..2392
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /inference="alignment:Splign:2.1.0"
     exon            2393..2476
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /inference="alignment:Splign:2.1.0"
     exon            2477..2536
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /inference="alignment:Splign:2.1.0"
     exon            2537..2581
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /inference="alignment:Splign:2.1.0"
     exon            2582..2626
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /inference="alignment:Splign:2.1.0"
     exon            2627..2755
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /inference="alignment:Splign:2.1.0"
     exon            2756..2959
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /inference="alignment:Splign:2.1.0"
     exon            2960..3013
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /inference="alignment:Splign:2.1.0"
     exon            3014..3344
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3317..3322
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /note="hexamer: AATAAA"
     polyA_site      3344
                     /gene="MLIP"
                     /gene_synonym="C6orf142; CIP; MMCKR"
                     /note="major polyA site"
ORIGIN      
        1 agtcattggt ttgctcgctc ccttatgtga tgaatcaatg ctttcagaac aggggcttct
       61 gagtgactgc gggaacaatt acttccaaat gacctcgtgc atcttatcag ggagcattca
      121 gaccacaccc caggtctctg ctggtggttc tgaagccaaa cctctgatct tcacatttgt
      181 ccccactgtc agaagactac caacccatac tcagttggct gacacctcta aattccttgt
      241 taaaattcca gaagaatcaa gtgataagag tccagaaact gtaaataggt ctaaatccaa
      301 tgactacttg accttgaatg ctgggagcca acaagagaga gaccaagcga aattgacttg
      361 tccttcagag gtcagtggaa cgattttaca agaaagggaa ttcgaagcaa acaaacttca
      421 agggatgcag caaagtgacc tcttcaaagc tgaatatgtc cttattgtgg actccgaagg
      481 ggaagatgag gctgcaagca gaaaagttga acaaggcccc ccagggggga ttggcaccgc
      541 agctgtccgg cccaagtctc tagctatctc gtccagtctg gtctctgatg tagtgcgtcc
      601 caaaacacag gggactgatc tcaagacctc atcacatcct gaaatgcttc atgggatggc
      661 ccctcagcaa aagcatgggc agttaacttc ttctcccact acctctgagc agcttgcctg
      721 taaaccacct gctttctcct ttgtttctcc aactaatccg aacacaccac ccgacccagt
      781 taacctcgag ggagcctctg tcctagagga gttccacact aggaggctgg atgtcggtgg
      841 ggccgtggtg gaagaatcag ctacgtattt tcaaactacc gctcactcta cacccttttc
      901 tgcatcgaag ggcacctcct cgacgttact gtttccccat tccactcaac tatcaggttc
      961 taatttaccc agttcaactg cagcagatcc aaagcctgga ctgacctctg aagttctcaa
     1021 gaagacaact ttaacctcgc atgtccttag tcacggagaa agtccgagaa cctcttcttc
     1081 tccaccgtcc tccagtgctt ctctgaagtc gaattcggcc tcgtacatac cagtccgcat
     1141 tgtcacgcat tcactctctc cgagccccaa accatttacc tcctctttcc acggctcttc
     1201 ttccaccatc tgcagccaaa tgtcatctag tggaaatctt tcaaagtcag gggtaaaatc
     1261 cccggtgcct tcccggcttg cccttctcac tgccattctc aagtcaaacc cttcccacca
     1321 aagacccttt tcccctgcat cctgtcccac cttctctctc aactccccgg cctcttccac
     1381 gctcacactt gaccaaaaag aaaagcagac cccacccacg cctaaaaaat ctctctcaag
     1441 ttgttccctg agagccgggt caccagatca aggggaactc caggtttctg aattgaccca
     1501 gcaatctttt cacctgcctg ttttcaccaa gtctactccg ctttctcagg cgccctccct
     1561 ctctcctaca aaacaggcta gtagcagcct tgcttccatg aatgtagaga gaacaccatc
     1621 acctactttg aagagcaata ccatgctctc cctgctacaa accagtacat ccagttctgt
     1681 gggtcttcct cctgttccac caagctcttc tctttcctct ttgaagagta aacaggatgg
     1741 tgacctcagg ggtccagaaa accccagaaa cattcacacg tacccttcta cattagcctc
     1801 ctctgcatta tcttctctat ctcctcctat taatcaaaga gctacgttct cttcttcaga
     1861 gaaatgtttc catccttccc cagctctttc aagcctgata aacagatcta aaagagcatc
     1921 atcccaacta tctggccagg agctgaatcc ttcagctctt ccttcactcc ctgtctccag
     1981 tgctgacttt gcctctcttc ccaacttgag gtcctcctct ctccctcatg ccaatctgcc
     2041 caccctggtg ccccagctca gtccctcagc tctgcaccca cattgcggca gtggtacctt
     2101 gccttcaaga cttgggaaat ctgaaagcac cacccccaac cacaggtcac ctgtttcaac
     2161 cccatcactt cccatatctc taacaaggac agaggagctg atttcacctt gtgcattgtc
     2221 catgtcaaca ggcccagaaa ataagaaatc aaagcaatac aagaccaagt caagctacaa
     2281 ggcttttgca gcaatcccta caaacacatt gcttttggaa cagaaggcac tagatgaacc
     2341 agccaagact gaaagtgtct ccaaggacaa cacattagaa ccaccagtgg agctctattt
     2401 tcctgcacag ctcaggcagc aaactgaaga gctctgtgct accattgata aggtcttaca
     2461 ggattccttg tctatgcatt cttctgattc tccttcaagg tccccaaaga cattgttggg
     2521 ttctgacaca gtcaaaactc ctacaactct tccaagagca gctggtcgag aaaccaaata
     2581 tgcaaatctc tcctcaccat cttctacagt atctgagagt cagctgacta agcctggagt
     2641 aattcgccca gtacctgtaa aatccagaat attactgaaa aaagaggagg aagtctatga
     2701 acccaaccct ttcagtaaat acttggaaga taacagcgac ctcttttctg aacaggatgt
     2761 aacagtccct cccaagcctg tctcgctcca tcctttatat cagactaaac tctatcctcc
     2821 tgctaagtca ctgctgcatc cacagaccct ctcacatgct gactgtcttg ccccaggacc
     2881 cttcagtcat ctgtccttct ccttgagtga tgaacaggag aattctcaca ccctcctcag
     2941 tcacaacgca tgcaacaagc tgagtcatcc aatggtggct attcctgaac atgaagctct
     3001 tgattccaaa gagcaatgaa gttggagcag aggctgaaaa cacaggctgc tgaagttttt
     3061 tggaatgctg gtgctaacca cttgctagat ttaacttttt tttttttttc cagaatgagt
     3121 gctcccttta tgagctgcag tgcagcagaa ccaaaaaaaa agtttgctgc aattatatag
     3181 catcacagtg ctctgctaac agccagcata gaagagattt acctacagct ttttgcacca
     3241 ctgttctagc ctttaatgcc ttctacttaa tattaagctg accgcaatac taacgtgccc
     3301 ctatatttgg cagccaaata aagaagaatc gtgggtaaat agaa
//
