LOCUS       NM_001135196            5258 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens chromosome 10 open reading frame 71 (C10orf71), mRNA.
ACCESSION   NM_001135196
VERSION     NM_001135196.2
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 5258)
  AUTHORS   Li,Y., Ma,K., Dong,Z., Gao,S., Zhang,J., Huang,S., Yang,J.,
            Fang,G., Li,Y., Li,X., Welch,C., Griffin,E.L., Ramaswamy,P.,
            Valivullah,Z., Liu,X., Dong,J., Wang,D.W., Du,J., Chung,W.K. and
            Li,Y.
  TITLE     Frameshift variants in C10orf71 cause dilated cardiomyopathy in
            human, mouse, and organoid models
  JOURNAL   J Clin Invest 134 (12), e177172 (2024)
   PUBMED   38950288
  REMARK    GeneRIF: Frameshift variants in C10orf71 cause dilated
            cardiomyopathy in human, mouse, and organoid models.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5258)
  AUTHORS   Chograni,M., Alahdal,H.M. and Rejili,M.
  TITLE     Autosomal recessive congenital cataract is associated with a novel
            4-bp splicing deletion mutation in a novel C10orf71 human gene
  JOURNAL   Hum Genomics 17 (1), 41 (2023)
   PUBMED   37179318
  REMARK    GeneRIF: Autosomal recessive congenital cataract is associated with
            a novel 4-bp splicing deletion mutation in a novel C10orf71 human
            gene.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5258)
  AUTHORS   Dierck,F., Kuhn,C., Rohr,C., Hille,S., Braune,J., Sossalla,S.,
            Molt,S., van der Ven,P.F.M., Furst,D.O. and Frey,N.
  TITLE     The novel cardiac z-disc protein CEFIP regulates cardiomyocyte
            hypertrophy by modulating calcineurin signaling
  JOURNAL   J Biol Chem 292 (37), 15180-15191 (2017)
   PUBMED   28717008
  REMARK    GeneRIF: Data suggest that CEFIP (cardiac-enriched FHL2-interacting
            protein) interacts with FHL2 (four and a half LIM domains
            protein-2) and modulates calcineurin signaling in cardiomyocytes;
            CEFIP is located at sarcomeric z-disc and is up-regulated in
            several models of cardiomegaly.
REFERENCE   4  (bases 1 to 5258)
  AUTHORS   Guan,W., Steffen,B.T., Lemaitre,R.N., Wu,J.H.Y., Tanaka,T.,
            Manichaikul,A., Foy,M., Rich,S.S., Wang,L., Nettleton,J.A.,
            Tang,W., Gu,X., Bandinelli,S., King,I.B., McKnight,B., Psaty,B.M.,
            Siscovick,D., Djousse,L., Chen,Y.I., Ferrucci,L., Fornage,M.,
            Mozafarrian,D., Tsai,M.Y. and Steffen,L.M.
  TITLE     Genome-wide association study of plasma N6 polyunsaturated fatty
            acids within the cohorts for heart and aging research in genomic
            epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 7 (3), 321-331 (2014)
   PUBMED   24823311
REFERENCE   5  (bases 1 to 5258)
  AUTHORS   Wu,J.H., Lemaitre,R.N., Manichaikul,A., Guan,W., Tanaka,T., Foy,M.,
            Kabagambe,E.K., Djousse,L., Siscovick,D., Fretts,A.M., Johnson,C.,
            King,I.B., Psaty,B.M., McKnight,B., Rich,S.S., Chen,Y.D.,
            Nettleton,J.A., Tang,W., Bandinelli,S., Jacobs,D.R. Jr.,
            Browning,B.L., Laurie,C.C., Gu,X., Tsai,M.Y., Steffen,L.M.,
            Ferrucci,L., Fornage,M. and Mozaffarian,D.
  TITLE     Genome-wide association study identifies novel loci associated with
            concentrations of four plasma phospholipid fatty acids in the de
            novo lipogenesis pathway: results from the Cohorts for Heart and
            Aging Research in Genomic Epidemiology (CHARGE) consortium
  JOURNAL   Circ Cardiovasc Genet 6 (2), 171-183 (2013)
   PUBMED   23362303
REFERENCE   6  (bases 1 to 5258)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK127811.1 and AC027674.10.
            
            On Nov 23, 2018 this sequence version replaced NM_001135196.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL833265.1, SRR5189655.107606.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMEA2154361
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374144.8/ ENSP00000363259.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1324              AK127811.1         29-1352
            1325-5258           AC027674.10        58077-62010
FEATURES             Location/Qualifiers
     source          1..5258
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     gene            1..5258
                     /gene="C10orf71"
                     /gene_synonym="CEFIP"
                     /note="chromosome 10 open reading frame 71"
                     /db_xref="GeneID:118461"
                     /db_xref="HGNC:HGNC:26973"
     exon            1..64
                     /gene="C10orf71"
                     /gene_synonym="CEFIP"
                     /inference="alignment:Splign:2.1.0"
     exon            65..167
                     /gene="C10orf71"
                     /gene_synonym="CEFIP"
                     /inference="alignment:Splign:2.1.0"
     exon            168..5258
                     /gene="C10orf71"
                     /gene_synonym="CEFIP"
                     /inference="alignment:Splign:2.1.0"
     CDS             312..4619
                     /gene="C10orf71"
                     /gene_synonym="CEFIP"
                     /note="uncharacterized protein C10orf71; cardiac enriched
                     FHL2-interacting protein"
                     /codon_start=1
                     /product="cardiac-enriched FHL2-interacting protein"
                     /protein_id="NP_001128668.1"
                     /db_xref="CCDS:CCDS44387.1"
                     /db_xref="GeneID:118461"
                     /db_xref="HGNC:HGNC:26973"
                     /translation="MMQGNKKCTDAFSDSSSIGSVLDDADREVSSLTDRAFRSLCISE
                     DTSFHDSYLAVSPDITRQVFGTFHQRTVGHTQRKSGIWSQLPSQGTEHSGWAATFQQL
                     PKYVQGEEKYPKTSPPPTPVQRRLEVPVSGLRSSNKPVSKVSTLIKSFDRTESQRCES
                     RPTASKPPALKNPPKFAPLPENSVNFCFDSAFLTVRRVPAEVSNTHQNSYQPGRKHGE
                     QESSKNPEMACHGSSSFLPAANDTATLCESKFPSPHHKPVTGEPGRGKGTFLHSENSA
                     FESWNAHQPKLLERKDTAGTVPESKAPKHYGDTTLLREPCPPERTVSPCQVQASCSQE
                     ENRLAAGALSTSIPWGCRDPGAQVFAVEGKAPSSQPDSQEKPAQPPWRKPKTGKKGKE
                     SLQDTLEEKTQTNQRGPPLYTKHNPQEQFSENNALDLPVEPNEHYDPPFNISKLLTPI
                     IPSKHALDSADSQPAERTPSPPGQLNGYQEKEPSECQSRDSYKSKAPSLLFNLKDVRK
                     RVKSTYSSSPLLKVLDEKTRGKVDGKQEPVSNGVILPNGLEESPPNELSKERPADDPT
                     ASHINPQKDPTADPSEPSADSYLTLSTAPTIAKAPFYVNGEAAERSSYENKEVEGELE
                     MGPAGSSWCPDSREHRPRKHLSLRLCNRDPEPGGATEKMKTHQLENGLSRSVSQETEP
                     EREAGLQNTHLNQKFFPGPLSPEEEDVFYSDSQSDFMPSLKGKAKFSTSSSDQSFASF
                     DDQQKMWFTENQREDRRKDVSAGDSQKDEKENVMRKDELQYCALSNGHACLENRSQGE
                     ALQRERESVSGGRTRKASAEEANFRGSWIGENKGTTFSQAKDLTPSPSSASNRHMLFT
                     IKDNTLRATPVIKPIMLPLLRTMSLEDSLSSGHKEEELPRPEWGEDPGFCAPENQDIL
                     GTSTPTNTRGTRVKCMANEVMEDPGQGSSMARMEASQPAPKGNFPSMPLVGEGDRVKA
                     PPDAAPGLVASNCKSGSADSGKLAAPWHIPTIALPEGDIEDQPPPWQPENCWEEQTPG
                     FKSHFLSTPRAGPPGRRLVPSERANSPNPGSPGESSACSPAASNIWEESSQAPGGPEL
                     LPEEPNQASPWASSSPARVTRREDLTHALVWEGGSDPLLELSAEDLRTLSPRGSLLDV
                     ATSPAGTSGRLELPAQLERTASKPPAVPPKTEKALRRAKKLASKRRKTDQAQEKHGES
                     QEGKPCPEDLEQTQQRPLCPRERPRHNFPVVRSLPPPVHRHSVSGFSEPVGRRPGGPQ
                     SLTPLPAYPATQKVLQDPQSGEYFVFDLPLQVKIKTFYDPETGKYVKVSIPSSEGASP
                     EPPPPDALAAPYVLYPGFQPVPVTALMPLRCSSQLSAPTFLRQGPRASAARARTQSVH
                     ESGLQLDPGPHGDCTPHSAGQRPHGPPQSPGEEGVEAPGLGIISTDDLEDFATEGIS"
     regulatory      5205..5210
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C10orf71"
                     /gene_synonym="CEFIP"
                     /note="hexamer: AAGAAA"
     polyA_site      5258
                     /gene="C10orf71"
                     /gene_synonym="CEFIP"
                     /note="major polyA site"
ORIGIN      
        1 ggactgtttg cctcttcccc accaagaaca ccatttggtt tcccccggct gggtctctat
       61 ttagatgggc agtgatgaca ccaaatataa gcataaaaag acgttttaaa actacagatc
      121 ctgaaaccca gcacggcagg cacctgcagc ttccagtgct gtaacagaga aaaaaaaaaa
      181 tccccacttt gcaattgcat ctggtcaatg agaggctcta gttttgggga agagggaaac
      241 acctaacctt gacagaatca tcaccagaga cacctgccgg ctgacaagga cagctttctt
      301 ggagccaaca gatgatgcaa ggaaataaga agtgcacaga cgcgttcagc gactcctcca
      361 gcatcggcag cgtgttggat gatgcagaca gggaggtgag cagcctaaca gaccgggcat
      421 tccggagttt gtgcatctcc gaggacacat ccttccatga ctcctatctg gctgtgtccc
      481 cggatatcac ccgacaggtg tttgggactt ttcaccagag aacagtgggc cacacccaga
      541 ggaaaagtgg catttggagc cagttaccgt cacagggcac ggaacattcg ggctgggcgg
      601 ccaccttcca acagctaccc aagtacgttc agggagagga aaagtacccc aaaaccagcc
      661 ccccaccaac gccagtccag aggagactgg aggtgccagt ttccggccta aggagcagca
      721 ataagcctgt ctccaaagta tcaacactaa ttaaatcttt cgacaggacc gagagccaac
      781 gttgtgagag caggcccact gccagcaagc ctccggctct gaaaaatcct cccaaattcg
      841 ctcctcttcc agaaaacagt gtcaacttct gcttcgattc tgcctttctg acagtcagga
      901 gggtgcccgc tgaagtttcc aacacccatc agaacagcta ccagccaggc aggaagcacg
      961 gagaacagga gtcctccaag aatccagaaa tggcctgtca cggctccagc agcttcctcc
     1021 cagcagccaa tgacacggcc accttatgtg agtcaaagtt cccctctcca caccacaagc
     1081 cagtcacggg tgagcctggg agaggcaaag gtacctttct gcacagtgaa aatagtgctt
     1141 ttgagtcatg gaatgcccac caaccaaagc tgctggagag aaaggacaca gctggaaccg
     1201 tcccagaaag caaagctccc aagcactatg gggacacgac cttgctaaga gaaccctgtc
     1261 ctcctgagcg cacagtctct ccctgccagg tccaggccag ctgcagtcag gaagagaaca
     1321 gacttgcagc aggggctctg tccacatcta taccctgggg gtgcagggat ccaggagccc
     1381 aggtatttgc tgtggaagga aaagctccca gctcacaacc tgattctcaa gagaagccag
     1441 cccagccccc atggaggaag ccaaagactg gcaaaaaagg gaaagaaagt ctacaagata
     1501 ctttagaaga aaagacacag accaaccaga gaggcccacc tttgtataca aaacacaacc
     1561 cccaggaaca gttttcagaa aacaatgctc ttgacctgcc tgtggaaccc aatgaacatt
     1621 atgatccccc ctttaacatc agtaagctcc tgacccccat catacccagc aagcacgccc
     1681 tggattcagc agacagccag ccagcagagc gaaccccatc acccccagga cagctaaacg
     1741 gataccaaga gaaggagccc agtgaatgtc agtctcgaga cagctacaag tccaaagccc
     1801 ctagcctgct gttcaacctc aaggacgtgc ggaagcgtgt taagagcaca tacagttcct
     1861 cacctctctt gaaagtgctt gatgagaaaa ctagaggtaa ggttgatgga aagcaagaac
     1921 ctgtgagcaa cggtgtcatc ctccccaatg ggcttgagga aagccctcca aatgagcttt
     1981 ctaaggagag acccgctgat gaccccactg catcacacat caatccccag aaggacccta
     2041 cagctgaccc cagtgagccc tctgcagaca gctatctaac tcttagcaca gctccgacta
     2101 tcgccaaagc ccccttctat gtcaatgggg aggctgctga gagaagcagt tatgagaaca
     2161 aggaggtgga aggagagttg gagatgggtc ctgccggatc cagctggtgt ccagactcca
     2221 gggaacaccg ccccaggaaa cacctctccc tgaggctttg caatagggat cctgagcctg
     2281 gaggggctac agagaaaatg aagacccacc agctagagaa tgggctctcc agatctgtgt
     2341 cccaagagac agaacctgag agggaagcag gacttcagaa cacacatttg aaccagaaat
     2401 tcttcccagg gcccctctct cctgaggagg aagatgtgtt ttacagtgac agccaatccg
     2461 attttatgcc aagcctcaaa ggtaaggcca aattcagcac cagctcttca gatcaatcct
     2521 ttgcctcatt tgatgatcag cagaagatgt ggtttactga gaaccagcgg gaagacagga
     2581 ggaaggatgt gagtgcaggt gacagtcaga aggatgagaa ggagaatgtg atgcggaagg
     2641 atgagctgca gtactgtgcc ttaagcaatg ggcacgcatg cctggaaaac cgcagccagg
     2701 gggaagcatt gcaaagagaa agggaaagtg tgtctggagg aagaaccagg aaggcatcag
     2761 cagaggaagc taatttcaga ggctcttgga ttggggaaaa taagggcaca accttttcac
     2821 aggccaaaga ccttactccc tcaccatctt ctgcttcaaa caggcacatg ctgtttacga
     2881 ttaaagacaa caccctcaga gctacccccg taattaaacc tatcatgctg cctctcctga
     2941 ggaccatgtc cttggaggac tccctcagca gtggccacaa agaggaggaa ttgccaaggc
     3001 cagaatgggg tgaggatcct gggttttgtg cccccgaaaa ccaggacatt cttggtacat
     3061 cgacacccac taacacacgg ggcacacgtg tgaagtgcat ggccaacgag gtcatggagg
     3121 accctgggca ggggtcgagc atggccagga tggaggcctc tcagccagcc ccaaagggga
     3181 atttcccatc tatgcctctg gtgggagagg gggaccgggt gaaggcacca ccagatgctg
     3241 cacctggcct cgtggcaagc aattgcaaga gcggttctgc agactcaggg aagctggcag
     3301 ccccatggca catccccacc attgctttac ccgagggtga catagaagac cagccacccc
     3361 catggcagcc cgaaaactgt tgggaagagc aaacaccagg tttcaagagt cactttttgt
     3421 ccacacccag agcagggccc cctggcagaa gactggtccc cagtgagagg gcgaattccc
     3481 ccaaccccgg ctcccccggg gagagcagtg cctgctcccc tgctgccagc aacatttggg
     3541 aggagtcttc ccaggcccct ggaggaccag agctgcttcc cgaggagcct aatcaagcca
     3601 gcccctgggc cagctccagt cctgccaggg tcacccggag ggaggacctg acccacgccc
     3661 tcgtgtggga gggcggctct gaccccctac ttgagctgtc ggcagaagac ctccggaccc
     3721 tctctccaag aggttcattg ctggatgtgg ccaccagccc agcaggcacc tctgggagac
     3781 ttgagcttcc tgcacagcta gagaggacag caagcaagcc acctgcagtc ccacccaaaa
     3841 cagagaaagc cctgcggcgg gcaaagaagc tggcaagtaa gaggaggaag acggatcagg
     3901 ctcaggagaa gcatggcgag tcacaggagg gaaagccctg cccggaggac ttggagcaga
     3961 cacagcaaag gccgctgtgc cccagagaga ggccccgaca caatttcccc gtggtccgtt
     4021 ccctgccccc tcccgtgcac cgccactccg tgtccggctt ctcggagcct gtcgggaggc
     4081 ggcccggggg cccccagtcc ctcacacccc tgcccgcgta ccccgccacc cagaaggtcc
     4141 tccaggatcc gcagtccggg gagtactttg tcttcgactt gccactccag gtgaaaatca
     4201 agaccttcta tgacccagag acgggcaagt atgtcaaggt ctccatcccg tcctccgagg
     4261 gggcctcccc agagccgccc ccaccggacg ccctggccgc tccctatgtg ctgtaccccg
     4321 gcttccagcc agtgcccgtg acggccttga tgccgctgcg ctgctcctct cagctctccg
     4381 cgcccacctt cctcaggcag ggccctcgtg cctccgcggc ccgcgccagg acccagagtg
     4441 tccacgagtc tggactacag ctggacccag ggcctcacgg tgactgcacc ccgcactctg
     4501 caggccagcg ccctcatggt cctccccaga gcccaggaga ggagggtgta gaagctccag
     4561 gcctgggcat catctccact gatgacctag aggactttgc cacagaaggc atttcttgag
     4621 ttactgcagg ctgtccccca cccccagatg aacccagagg agcttacttc cccctccccc
     4681 aaaacaagca acacacacac acacacacac acacacacac acacacacga tcatcaacac
     4741 atacttagcc tttttagatc cataaagtcc agaaggcagt agggatccca agacgacctc
     4801 acccaaaggg ctccctggct ctcctctgat ggaggggcac tgcttgcttg gcccggtccc
     4861 ctccgtgcca gttcccaggc gcactctact ccagcccttc tccctccctc ccttcctccc
     4921 tctcctggcc caccctgctc ttccctcgcc ctgcaaatta ggtgggtgtg gcaagggcac
     4981 cgcctggtcc caagtgtccc tctgtaccca cacccaccca ctcacttgta agctccttga
     5041 tgagcaaacc cctaaggccc ccagctcaga ctcagcaggc attcaggtca actcaggcag
     5101 actggctaag gaccagccca gggcaatttt gcagaaatga tcatttgcac agaatgggtt
     5161 tccttcacag ggagaaactt gcctctgaaa gctattttct gatcaagaaa aggcccactt
     5221 tttaaaaagt gaaacaagtt tgcagatacg gttctctt
//
