LOCUS       NM_133368               3503 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1),
            transcript variant 1, mRNA.
ACCESSION   NM_133368 XM_166279
VERSION     NM_133368.3
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 3503)
  AUTHORS   Singh,S., Shah,H., Dalal,A., Shukla,A., Bhavani,G.S. and
            Girisha,K.M.
  TITLE     Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia
  JOURNAL   Am J Med Genet A 194 (8), e63601 (2024)
   PUBMED   38562122
  REMARK    GeneRIF: Two sisters with RSPRY1-related spondyloepimetaphyseal
            dysplasia.
REFERENCE   2  (bases 1 to 3503)
  AUTHORS   Simsek-Kiper,P.O., Taskiran,E.Z., Kosukcu,C., Urel-Demir,G.,
            Akgun-Dogan,O., Yilmaz,G., Utine,G.E., Nishimura,G., Boduroglu,K.
            and Alikasifoglu,M.
  TITLE     Further delineation of spondyloepimetaphyseal dysplasia
            Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal
            dysplasia with cono-brachydactyly and craniosynostosis
  JOURNAL   Am J Med Genet A 176 (9), 2009-2016 (2018)
   PUBMED   30063090
  REMARK    GeneRIF: we provide further evidence that Spondyloepimetaphyseal
            dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal
            dysplasia with a distinctive phenotype composed of
            spondyloepimetaphyseal dysplasia, cono-brachydactyly, and
            craniosynostosis along with recognizable facial features and
            intellectual disability.
REFERENCE   3  (bases 1 to 3503)
  AUTHORS   Faden,M., AlZahrani,F., Mendoza-Londono,R., Dupuis,L., Hartley,T.,
            Kannu,P., Raiman,J.A., Howard,A., Qin,W., Tetreault,M., Xi,J.Q.,
            Al-Thamer,I., Maas,R.L., Boycott,K. and Alkuraya,F.S.
  CONSRTM   Care4Rare Canada Consortium
  TITLE     Identification of a Recognizable Progressive Skeletal Dysplasia
            Caused by RSPRY1 Mutations
  JOURNAL   Am J Hum Genet 97 (4), 608-615 (2015)
   PUBMED   26365341
  REMARK    GeneRIF: RSPRY1 Mutations are associated with Progressive Skeletal
            Dysplasia.
REFERENCE   4  (bases 1 to 3503)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC013173.2, AC009090.12 and
            AL834402.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_133368.2.
            
            Summary: This gene encodes a glycoprotein that contains a RING-type
            zinc finger domain and an SPRY domain of unknown function.
            Alternative splicing of this gene results in multiple transcript
            variants. [provided by RefSeq, Feb 2015].
            
            Transcript Variant: This variant (1) encodes isoform 1. Variants 1,
            2 and 3 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC013173.2, SRR1803617.221354.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394420.9/ ENSP00000377942.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2072              BC013173.2         1-2072
            2073-2089           AC009090.12        24523-24539         c
            2090-3503           AL834402.1         337-1750
FEATURES             Location/Qualifiers
     source          1..3503
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q13"
     gene            1..3503
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /note="ring finger and SPRY domain containing 1"
                     /db_xref="GeneID:89970"
                     /db_xref="HGNC:HGNC:29420"
                     /db_xref="MIM:616585"
     exon            1..123
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
     exon            124..628
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
     CDS             279..2009
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; RING finger and SPRY domain-containing protein
                     1"
                     /codon_start=1
                     /product="RING finger and SPRY domain-containing protein 1
                     isoform 1 precursor"
                     /protein_id="NP_588609.1"
                     /db_xref="CCDS:CCDS10775.1"
                     /db_xref="GeneID:89970"
                     /db_xref="HGNC:HGNC:29420"
                     /db_xref="MIM:616585"
                     /translation="MIVFGWAVFLASRSLGQGLLLTLEEHIAHFLGTGGAATTMGNSC
                     ICRDDSGTDDSVDTQQQQAENSAVPTADTRSQPRDPVRPPRRGRGPHEPRRKKQNVDG
                     LVLDTLAVIRTLVDNDQEPPYSMITLHEMAETDEGWLDVVQSLIRVIPLEDPLGPAVI
                     TLLLDECPLPTKDALQKLTEILNLNGEVACQDSSHPAKHRNTSAVLGCLAEKLAGPAS
                     IGLLSPGILEYLLQCLKLQSHPTVMLFALIALEKFAQTSENKLTISESSISDRLVTLE
                     SWANDPDYLKRQVGFCAQWSLDNLFLKEGRQLTYEKVNLSSIRAMLNSNDVSEYLKIS
                     PHGLEARCDASSFESVRCTFCVDAGVWYYEVTVVTSGVMQIGWATRDSKFLNHEGYGI
                     GDDEYSCAYDGCRQLIWYNARSKPHIHPCWKEGDTVGFLLDLNEKQMIFFLNGNQLPP
                     EKQVFSSTVSGFFAAASFMSYQQCEFNFGAKPFKYPPSMKFSTFNDYAFLTAEEKIIL
                     PRHRRLALLKQVSIRENCCSLCCDEVADTQLKPCGHSDLCMDCALQLETCPLCRKEIV
                     SRIRQISHIS"
     exon            629..681
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
     exon            682..794
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
     exon            795..921
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
     exon            922..980
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1047
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1179
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1295
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
     exon            1296..1439
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1551
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
     exon            1552..1654
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
     exon            1655..1807
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
     exon            1808..1912
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
     exon            1913..3503
                     /gene="RSPRY1"
                     /gene_synonym="SEMDFA"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ctctgcgcgt aatggcagcg ccgtggcctc gcgtccatct ttgccgttct ctcggacctg
       61 tcacaaagga gtcgcgccgc cgccgccgcc ccctccctcc ggtgggcccg ggaggtagag
      121 aaaaactgcc attggatgtc cagaatcccc tgtagttgat aatgttggga ataagctctg
      181 caactttctt tggcattcag ttgttaaaaa caaataggat gcaaattcct caactccagg
      241 ttatgaaaac agtacttgga aaactgaaaa ctacctaaat gatcgtcttt ggttgggccg
      301 tgttcttagc gagcagaagc cttggccagg gtctgttgtt gactctcgaa gagcacatag
      361 cccacttcct agggactgga ggtgccgcta ctaccatggg taattcctgt atctgccgag
      421 atgacagtgg aacagatgac agtgttgaca cccaacagca acaggccgag aacagtgcag
      481 tacccactgc tgacacaagg agccaaccac gggaccctgt tcggccacca aggaggggcc
      541 gaggacctca tgagccaagg agaaagaaac aaaatgtgga tgggctagtg ttggacacac
      601 tggcagtaat acggactctt gtagataatg atcaggaacc tccctattca atgataacat
      661 tacacgaaat ggcagaaaca gatgaaggat ggttggatgt tgtccagtct ttaattagag
      721 ttattccact ggaagatcca ctgggaccag ctgttataac attgttacta gatgaatgtc
      781 cattgcccac taaagatgca ctccagaaat tgactgaaat tctcaattta aatggagaag
      841 tagcttgcca ggactcaagc catcctgcca aacacaggaa cacatctgca gtcctaggct
      901 gcttggccga gaaactagca ggtcctgcaa gtataggttt acttagccca ggaatactgg
      961 aatacttgct acagtgtctg aagttacagt cccaccccac agtcatgctt tttgcactta
     1021 tcgcactgga aaagtttgca cagacaagtg aaaataaatt gactatttct gaatccagta
     1081 ttagtgaccg gcttgtcaca ttggagtcct gggctaatga tcctgattat ctgaaacgtc
     1141 aagttggttt ctgtgcccag tggagcttag acaatctctt tttaaaagaa ggtagacagc
     1201 tgacctatga gaaagtgaac ttgagtagca ttagggccat gctgaatagc aatgatgtca
     1261 gcgagtacct gaagatctca cctcatggct tagaggctcg ctgtgatgcc tcctcttttg
     1321 aaagtgtgcg ttgcaccttt tgtgtggatg ccggggtatg gtactatgaa gtaacagtgg
     1381 tcacttctgg cgtcatgcag attggctggg ccactcgaga cagcaaattc ctcaatcatg
     1441 aaggctacgg cattggggat gatgaatact cctgtgcgta tgatggctgc cggcagctga
     1501 tttggtacaa tgccagaagt aagcctcaca tacacccatg ctggaaagaa ggagatacag
     1561 taggatttct gttagacttg aatgaaaagc aaatgatctt ctttttaaat ggcaaccagc
     1621 tgcctcctga aaagcaagtc ttttcatcta ctgtatctgg attttttgct gcagctagtt
     1681 tcatgtcata tcaacaatgt gagttcaatt ttggagcaaa accattcaaa tacccaccat
     1741 ctatgaaatt tagcactttt aatgactacg ccttcctaac agctgaagaa aaaatcattt
     1801 tgccaaggca caggcgtctt gctctgttga agcaagtcag tatccgagaa aactgctgtt
     1861 ccctttgttg tgatgaggta gcagacacac aattgaagcc atgtggacac agtgacctgt
     1921 gcatggattg tgccttgcag ctggagacct gcccattgtg tcgtaaagaa atagtatcta
     1981 gaatcagaca gatttctcat atttcatgac acatgtgaag aggcatcgtg gacttttttc
     2041 tactcaattc cagccaatgt tgaaaagaaa aagaaaaaaa aaactctcta atcagttgta
     2101 cacacattga aacttatagc catggccaga ttttatgcta aaaatggtag tttgtcaaag
     2161 acaaaattct cttagaatct aatccaactt gccagccctg agaaaatccc ttttaaggcc
     2221 aaggaaagct gaatgctagc agccaggcct gtggtacttc catgagaaac catagcagac
     2281 aatgccctcc caagtactga aatcacactg gaatccccct tgttgggttc atttgattgt
     2341 ttaacacagg atgtgttgtg tcattctgaa gtttttattt ggggcagaag tctttatgga
     2401 gatgtaaatg acagcgtttc tgggttatgc ataacttctc actggtcaga gacaccggtg
     2461 tgtcaagcat ggatattgca ttgcaagact tgaatctata aaaattagaa tcacacagtc
     2521 agtactacaa gcaaaacaga gaacctgaaa gaaggtgcac agactgtaag aaaaaaccca
     2581 agtttgtgat atttcagtga ttccaaagaa cattctaggt tttttgtttg tttttttgtt
     2641 ttttgggttt ttttttttta ctgcagaaaa ttggtggtat tttcacattc atagtgtttc
     2701 tatccaattt cagtacccac atttaatgag gaaaaaatgt tttaccaatg aaggaggaat
     2761 tcttaaatta gctgtaatgt taggttggag aaaatttggt atttagggta ttttcaaggt
     2821 accatcaaat cagatttctg tttttttgtt aaaaaaaatt tttttaatca gtattgtttt
     2881 tacaagtaat atactttgaa actcttgaac taatagtctc aaaaactcta gaggacagtc
     2941 tgagaacacg tatttctatt gttctaaata aatacatgtt tttgaatagt tcaatcatga
     3001 attattgact atgtcttcat caaaagtgtt aatccctctc agggtctctg gtgaagacct
     3061 tcaagagttt ggttttttct cccaggaaat tggaaggtag aattgtaaat tcatagaact
     3121 tcttttataa tggtgtacct cagcagctgc ctttcaattt atgccaagtc cttacagagt
     3181 ttatacttga atagtaaata tgtcttctga gttttacagt gtcttaaact caatgcacat
     3241 ttttttttct tctttttcca ccccttcttg tttgtagttc attatacctg tcctattaca
     3301 gaactgattt ccttcctggc tgtacatgtt ggggtgctgg atttttttcc gtgtctttag
     3361 tcttccataa atccacacac acacacacac acaaaaaata tatatatata taaatatata
     3421 tgtaggatac atgttctctt ctttagcttg tggtgaatac agtaatttgc attgaagaat
     3481 aaaacatctg ttgccttttt tga
//
