LOCUS       NM_178554               5704 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens kyphoscoliosis peptidase (KY), transcript variant 1,
            mRNA.
ACCESSION   NM_178554
VERSION     NM_178554.6
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 5704)
  AUTHORS   Arif,B., Rasheed,A., Kumar,K.R., Fatima,A., Abbas,G., Wohler,E.,
            Sobriera,N., Lohmann,K. and Naz,S.
  CONSRTM   Baylor-Hopkins Center for Mendelian Genomics
  TITLE     A novel homozygous KY variant causing a complex neurological
            disorder
  JOURNAL   Eur J Med Genet 63 (11), 104031 (2020)
   PUBMED   32818658
  REMARK    GeneRIF: A novel homozygous KY variant causing a complex
            neurological disorder.
REFERENCE   2  (bases 1 to 5704)
  AUTHORS   Yogev,Y., Perez,Y., Noyman,I., Madegem,A.A., Flusser,H., Shorer,Z.,
            Cohen,E., Kachko,L., Michaelovsky,A., Birk,R., Koifman,A.,
            Drabkin,M., Wormser,O., Halperin,D., Kadir,R. and Birk,O.S.
  TITLE     Progressive hereditary spastic paraplegia caused by a homozygous KY
            mutation
  JOURNAL   Eur J Hum Genet 25 (8), 966-972 (2017)
   PUBMED   28488683
  REMARK    GeneRIF: Homozygous KY mutation was identified as a cause of
            progressive hereditary spastic paraplegia.  High KY transcript
            levels were demonstrated in muscular organs and lower expression in
            the CNS.
REFERENCE   3  (bases 1 to 5704)
  AUTHORS   Wang,Y. and Tatakis,D.N.
  TITLE     Human gingiva transcriptome during wound healing
  JOURNAL   J Clin Periodontol 44 (4), 394-402 (2017)
   PUBMED   28005267
  REMARK    GeneRIF: KY expression is significantly downregulated in human
            masticatory mucosa during wound healing
REFERENCE   4  (bases 1 to 5704)
  AUTHORS   Hedberg-Oldfors,C., Darin,N., Olsson Engman,M., Orfanos,Z.,
            Thomsen,C., van der Ven,P.F. and Oldfors,A.
  TITLE     A new early-onset neuromuscular disorder associated with
            kyphoscoliosis peptidase (KY) deficiency
  JOURNAL   Eur J Hum Genet 24 (12), 1771-1777 (2016)
   PUBMED   27485408
  REMARK    GeneRIF: Homozygous c.1071delG, p.(Thr358Leufs*3) variant of KY
            causes neuromuscular disorder by introducing a premature stop
            codon.
REFERENCE   5  (bases 1 to 5704)
  AUTHORS   Straussberg,R., Schottmann,G., Sadeh,M., Gill,E., Seifert,F.,
            Halevy,A., Qassem,K., Rendu,J., van der Ven,P.F., Stenzel,W. and
            Schuelke,M.
  TITLE     Kyphoscoliosis peptidase (KY) mutation causes a novel congenital
            myopathy with core targetoid defects
  JOURNAL   Acta Neuropathol 132 (3), 475-478 (2016)
   PUBMED   27484770
  REMARK    GeneRIF: This study shown Kyphoscoliosis peptidase (KY) mutation
            causes a novel congenital myopathy with core targetoid defects in
            two bother.
REFERENCE   6  (bases 1 to 5704)
  AUTHORS   Beatham,J., Romero,R., Townsend,S.K., Hacker,T., van der Ven,P.F.
            and Blanco,G.
  TITLE     Filamin C interacts with the muscular dystrophy KY protein and is
            abnormally distributed in mouse KY deficient muscle fibres
  JOURNAL   Hum Mol Genet 13 (22), 2863-2874 (2004)
   PUBMED   15385448
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016931.21 and AC109912.10.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_178554.5.
            
            Summary: The protein encoded by this gene belongs to the
            transglutaminase-like superfamily. The protein is involved in the
            function, maturation and stabilization of the neuromuscular
            junction and may be required for normal muscle growth. Mutations in
            this gene are associated with myopathy, myofibrillar, 7. [provided
            by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMN03267757
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000423778.7/ ENSP00000397598.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-198               AC016931.21        8738-8935           c
            199-261             AC016931.21        5348-5410           c
            262-324             AC109912.10        85339-85401         c
            325-399             AC109912.10        71644-71718         c
            400-462             AC109912.10        69779-69841         c
            463-545             AC109912.10        67076-67158         c
            546-654             AC109912.10        62772-62880         c
            655-772             AC109912.10        61171-61288         c
            773-961             AC109912.10        52218-52406         c
            962-1152            AC109912.10        50672-50862         c
            1153-5704           AC109912.10        41946-46497         c
FEATURES             Location/Qualifiers
     source          1..5704
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.2"
     gene            1..5704
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /note="kyphoscoliosis peptidase"
                     /db_xref="GeneID:339855"
                     /db_xref="HGNC:HGNC:26576"
                     /db_xref="MIM:605739"
     exon            1..198
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..2048
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="kyphoscoliosis peptidase isoform 1"
                     /protein_id="NP_848649.3"
                     /db_xref="CCDS:CCDS46920.1"
                     /db_xref="GeneID:339855"
                     /db_xref="HGNC:HGNC:26576"
                     /db_xref="MIM:605739"
                     /translation="MELKKDINAVSIDMLLIVHSEKRRAAQGTLSDQQANPSSLLQRG
                     GGFQGVGNGVRRWQKLEGNDFHENLVEKQHPQQPQVITSYNSQGTQLTVEVHPRDAMP
                     QLLKKFSLAKRLQGDKNGNTRPRQPGGKDAHAYPWDRSSLKSMSLDLQQFEKLDIYAS
                     QVTAKSGLDELVSDLLQEAHTDLERVRAIWIWICHHIEYDIAAAQEKDRQAFKPTDIL
                     RTQKTNCDGYAGLFERMCRLAGVQCMTVPGYSKGFGYQTGQSFSGEFDHAWNAVYLEG
                     RWHLVDSTWGSGLVDTITSKFTFLYNEFYFLTHPALFIEDHFPDNKNWQLLKPPQSLR
                     QFENNMYHKSEFYNKGMLSAHPETSMIRTVNGKATVTIESCAPTLFMFMLNGKQEHGL
                     LSLRKNGMKLEVYPPTMGTHKLQIFAKGNSDIYSSVLEYTLKCNYVDMGVQLPAELHQ
                     PVGPSWFSEQMGIMKPSHPDPIIHTSDGRCSISFSVEEGINVLASLHGDDGPITEETQ
                     RRYIFQLHREKQTELKVQLPHAGKFALKIFVKKRQEPGNYIFVFNYLVCCANTKVNWP
                     MFPESFGNWGQDNELLEPLSGVLPANRNVPFKLKLHGIAKVLVKGQDTWPLTLNHEGY
                     WEGSCSTAGCQEVYVMVLENANHNFYSYILKYKVNAQ"
     exon            199..261
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /inference="alignment:Splign:2.1.0"
     exon            262..324
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /inference="alignment:Splign:2.1.0"
     exon            325..399
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /inference="alignment:Splign:2.1.0"
     exon            400..462
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /inference="alignment:Splign:2.1.0"
     exon            463..545
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /inference="alignment:Splign:2.1.0"
     exon            546..654
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /inference="alignment:Splign:2.1.0"
     exon            655..772
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /inference="alignment:Splign:2.1.0"
     exon            773..961
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1152
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..5704
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5677..5682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /note="hexamer: AATAAA"
     polyA_site      5704
                     /gene="KY"
                     /gene_synonym="MFM7"
                     /note="major polyA site"
ORIGIN      
        1 atttgcagcg caagcagcct agcgtgcggc cgcggcgccc aggtcggaaa ggaggcggca
       61 tcatggagct gaagaaggac atcaacgctg tatctatcga catgctgctg atcgtgcact
      121 cggagaagcg gcgcgccgca cagggtacgc tctcagacca gcaggcgaac ccgagctcgc
      181 tgctgcagcg cggaggagga ttccaaggtg ttggaaatgg agtccgaaga tggcagaaat
      241 tagaaggaaa tgactttcac gaaaacttgg tggagaagca gcaccctcag cagccccagg
      301 tcatcacttc ctacaacagc caagggacac aactgactgt ggaagtccac cctcgagatg
      361 ccatgcccca gctgctcaag aagttctcct tggctaaacg tttacaaggt gataaaaatg
      421 gaaacacaag accccggcaa cctggaggga aagatgccca tgcctacccc tgggatcgat
      481 ctagcctgaa atccatgtcc ctggacctgc agcagtttga gaaattggat atctacgcct
      541 cacaggtgac agccaagagt ggcctagacg aactggtgag tgacctgctc caggaggccc
      601 acactgacct ggaaagggtc cgcgccatct ggatctggat ctgccatcac atagagtatg
      661 acattgcagc tgctcaggag aaggaccgcc aagccttcaa acccactgac atcctgcgga
      721 cccagaagac caactgtgat ggctatgctg gcctcttcga gagaatgtgc aggctcgccg
      781 gagtgcagtg tatgaccgtg cctggctact ccaagggttt cggctaccag acagggcaga
      841 gcttctcggg ggagtttgac catgcctgga atgctgtgta cctggaggga agatggcacc
      901 tggtggacag cacctggggc agcggcctgg tggacaccat cacctccaaa ttcaccttcc
      961 tctacaatga gttctacttc ctcacccacc ctgcactgtt catcgaggac cacttcccag
     1021 acaacaagaa ctggcagctg ctaaaacctc ctcaatctct gaggcagttt gagaacaaca
     1081 tgtatcacaa gagtgaattc tacaacaaag ggatgctgag tgcccaccca gagacttcca
     1141 tgatcagaac agtgaatggg aaggccacgg tcaccattga gagctgcgcc ccgacgctgt
     1201 tcatgttcat gctcaatggc aagcaagagc atgggctgct gagcctaagg aagaatggga
     1261 tgaagttgga ggtgtaccct ccaaccatgg gcactcacaa gctgcagatc tttgccaagg
     1321 gcaactccga catctacagc tcagtgctgg agtacacgct caagtgcaat tatgtggaca
     1381 tgggtgtcca gctgcctgct gagcttcacc agcccgtggg ccccagctgg ttctcggagc
     1441 agatgggcat catgaagccc tcccaccctg accctatcat ccacaccagc gacgggcgct
     1501 gctccatcag cttcagcgtg gaggagggca ttaatgtcct ggcttccctc cacggggatg
     1561 atggccccat cactgaggag acacagcggc gctacatctt ccagctgcac cgggagaagc
     1621 agaccgagct gaaagtccag ctgccccatg caggcaagtt tgccctcaag atctttgtca
     1681 agaagaggca ggaaccagga aactacatct tcgtctttaa ttaccttgta tgctgtgcca
     1741 acaccaaggt gaactggccc atgttccctg agagctttgg caactgggga caggacaatg
     1801 agctgctgga acctctgtca ggtgtgcttc ctgccaaccg gaatgtccca ttcaaattga
     1861 agctgcatgg tattgccaaa gtcctggtga aggggcagga cacatggccc ctgaccctga
     1921 accacgaggg ctactgggag ggaagctgca gcacagctgg ctgccaggaa gtctatgtca
     1981 tggtgctgga gaatgccaac cacaatttct actcctacat cctgaaatac aaagtgaatg
     2041 cccagtgagg gctgtgcccc ggtcttaccc tcccaaaggg ccaaggccag acctccccag
     2101 ggagggctcg aaggaagtgc agggagccct ggacaccact gagtctgcat gaaatccctt
     2161 ctaggcctct gcctcagtgt cccacctctg ccacaggagc tgtgatcttt gtgttctgaa
     2221 ggcttcactc aggtgtggct gtgactgagg gggcagaggc agtggctctt tagaaggaaa
     2281 aggtgctatg taaatctaag gtattgtaaa ctgtacacct gcatccagat gccccttctc
     2341 gtattagtgc tgctgctgtt gttgttgctg tagggttgat gagggaaagc agggatattg
     2401 cccaggttga cagcttttca catgatgctt agagaattct cttccatgcc caaggggaca
     2461 tgatttgcaa ggctgggttg tccttgaatc acagagcccc tttcaagcaa tatcaccgtg
     2521 cctctcgaca gctccgagcc cccagggaat cttggactat cttctcctcc cagacctgat
     2581 catcttctgc atcctgctgc ctcttcatta gctacttctt gttcttcaag agcccaagaa
     2641 aaagggtgtg gtgaggaagc cagctgaccc acaactggct ggaagctgat cgtctccaac
     2701 atccctaagt atagtcagga atgtgacaac cagaaagttg tgaggagact gcaaagcaaa
     2761 gagcagccca tgcccgctgt ggctgtgcag gtgggaggga cactgtcggc agagctgcag
     2821 ccttggtctg agggtgtaag acctccagct ctgctctgag aggagtacac agggcaggta
     2881 gttcagtcta aggcctggag tgccctccag gccctcacag agcctgggcc tcaggcccct
     2941 gccccacctc cacagagagc ctccagaggc tggccaggcc cttggggagt cttgtggata
     3001 gccctgaata aggacctggg cgcagatcag gtgagtagtg cagtgcggca atgccgagga
     3061 gactcacact ttaacagggc tctgcctgcc cccagtgtct ctaccagcaa agccagggct
     3121 gggaagaatt ccagctgcac gagagcagct tttgtgcctg tctcggagaa aacatcctat
     3181 cccgtctcct ttcctccctt ctctgagaag acagccccct ccagtctcac cttgcatggg
     3241 gacagctcag ggctccttgc ttgctcaggc acagactgag aggcctcagc tgcccagctg
     3301 gccctcagca gcgcctcagg ctgccgttgc catggcaacg gaggaaaggc tgacttcagc
     3361 gagggcagat aagagggaaa ggcgagagag gccccacatg gccactgcag aaccatcctg
     3421 gcacacagac atgctccctg ctgaactccc ggcttctcca gctccgtggc ccctggctgt
     3481 ctcagtgccc cccaacccct gagagccagc actgcctggc acctctcccc acagcccctc
     3541 cacaggcctc caggctcaac cacagccagg gccagctggg accctcatag cttcctccgt
     3601 ggcactcacc ctcacatccc tgtatccaac aaatgctcac agaagtacca gatgcttggg
     3661 ctacagaggt gaaccaaggg ggcccggccc ctgccatcca gagtacaggg tgaggaaact
     3721 gccaggcagc agcagccttc cctgcccagg cctgactgaa gatccaggct ccagacactt
     3781 ctgttcatta tcccccggga tccctcccct aaaagtcccc actgccaccc agcacggtgg
     3841 cctagcccag aaccagctca caagggtgcc catcatccaa caggccggcg gcctcgagca
     3901 aaaggggtgt ctcccctggg gggctgaact gtcctgggca ggtcctgcgc cctccgcagt
     3961 ctctgccacc gaggccaccc agccagcctc gtgtcactca cacctgaaaa atgcacaaag
     4021 gccccggagg cataacagct atgcaccacc acagggaaac aaagggagtt ttacaccctg
     4081 aaaacagccg tcttgcacac ttctgatttt atgggcttaa agaaatgtgt ttgtttcatc
     4141 aaaacaataa gtgccttcga tgacgcatgt cactcactgg accccgcgct ggctgcctcg
     4201 cttagtcctg ctggagaccc ccataccttt tcgatatgca atataattaa tcaatacatc
     4261 ctggagcatt gcagagaatg ccacccagca aaataggagc tgtccccagc accagagagg
     4321 gaggccccgc ccctcaaagc accgcagggc atcagcaagc ccctccctct cgtttaacta
     4381 ggcaccccct ttgtaaagac agctgtaggc gcagtcagaa aatcacctgc atttctttcc
     4441 actgaagtaa aaatacatga aatgaaatct aatcttcatg aatttttaca cgcatgctgc
     4501 tcagggtaga cattcggagt tgcattttga aggcttttct ttaaatcccc atctttgttt
     4561 cccgggcgac gagtcccagt cgccggcgga atggcacggg cgcccccagg tgtccgaagt
     4621 gcggagctgc cggcgctgca caccgcgagg ctgatctatc accgggcttt ttcgcagaac
     4681 ttgaaaatgc tgtggaaatg tttatgttaa aatcactagg tgctttctcg tggcttctca
     4741 gcgctacctt atgtgtacac ggaggacatc tttgtcacgc acaagctgtg agggcatcct
     4801 gggggacaac ctggtgtgtt gaaaagacaa gggatgtgat gggactgttt tgcctggaaa
     4861 taacttcttg aaacagaagc acttgacata ggactggatg gaacagctgt gactacactc
     4921 attactatac cattgaagga ttggaaccga tcaaactcag aaagtatctg cttgcaattc
     4981 tcaggatggc agcccccagg ccacagggca gaagggaacc gagggtggag gagtggtggg
     5041 cagaggcact acaaccacaa cttcagtaca cttctttcca gcttgtttca gaagtgccat
     5101 agctcagctg gactccattt tcaatctgat tatgatcatt gtgagttccc catatgttac
     5161 attgtcctac caggacagcc tcctcactgc ctgctaagat taaaagtaaa taaatagact
     5221 aactgaagca tgaaggattt cggctagaca taaagaacta tttcctgttg ttaagcagga
     5281 gggacaagtt gccaagaaag tttgtgaaat cctcttctca aaggacttga aaaggagaaa
     5341 agttttccca gtggtctgag gttttagatg ccatgttcac tagaaggagt gggttttctc
     5401 ctctccaaac caattaattc ctgagatatc ctggtctgcc tgcagcaaac agagggttaa
     5461 cagcatcact acatcatttg ctattggcaa aattttcgaa gatggtgtgc ctctattgcc
     5521 cgcctcagtt tatcttaggt ctataatttc ttttcatttg gagtaagtag tcggcaattg
     5581 aaagaggtga ttacttctca taatgtgtgc attgagttgt gtgggccggt ggctgttgag
     5641 tatgctttct ccatgttgtt gctggtgttg tttttcaata aaatttatat tcatttttat
     5701 ccaa
//
