LOCUS       NP_001276501             550 aa            linear   ROD 27-APR-2025
DEFINITION  spermatogenesis-associated protein 7 homolog isoform 2 [Mus
            musculus].
ACCESSION   NP_001276501 XP_006515420
VERSION     NP_001276501.1
DBSOURCE    REFSEQ: accession NM_001289572.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 550)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (residues 1 to 550)
  AUTHORS   Lu,J., Xiong,K., Qian,X., Choi,J., Shim,Y.K., Burnett,J., Mardon,G.
            and Chen,R.
  TITLE     Spata7 is required for maintenance of the retinal connecting cilium
  JOURNAL   Sci Rep 12 (1), 5575 (2022)
   PUBMED   35368022
  REMARK    GeneRIF: Spata7 is required for maintenance of the retinal
            connecting cilium.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 550)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 550)
  AUTHORS   Dharmat,R., Eblimit,A., Robichaux,M.A., Zhang,Z., Nguyen,T.T.,
            Jung,S.Y., He,F., Jain,A., Li,Y., Qin,J., Overbeek,P., Roepman,R.,
            Mardon,G., Wensel,T.G. and Chen,R.
  TITLE     SPATA7 maintains a novel photoreceptor-specific zone in the distal
            connecting cilium
  JOURNAL   J Cell Biol 217 (8), 2851-2865 (2018)
   PUBMED   29899041
  REMARK    GeneRIF: The absence of Spata7 results in the mislocalization of
            DCC proteins without affecting the proximal connecting cilium (PCC)
            protein complexes.
REFERENCE   5  (residues 1 to 550)
  AUTHORS   Kasowitz,S.D., Ma,J., Anderson,S.J., Leu,N.A., Xu,Y., Gregory,B.D.,
            Schultz,R.M. and Wang,P.J.
  TITLE     Nuclear m6A reader YTHDC1 regulates alternative polyadenylation and
            splicing during mouse oocyte development
  JOURNAL   PLoS Genet 14 (5), e1007412 (2018)
   PUBMED   29799838
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 550)
  AUTHORS   Eblimit,A., Agrawal,S.A., Thomas,K., Anastassov,I.A., Abulikemu,T.,
            Moayedi,Y., Mardon,G. and Chen,R.
  TITLE     Conditional loss of Spata7 in photoreceptors causes progressive
            retinal degeneration in mice
  JOURNAL   Exp Eye Res 166, 120-130 (2018)
   PUBMED   29100828
  REMARK    Erratum:[Exp Eye Res. 2018 Jun;171:119. doi:
            10.1016/j.exer.2018.03.011. PMID: 29579643]
REFERENCE   7  (residues 1 to 550)
  AUTHORS   Eblimit,A., Nguyen,T.M., Chen,Y., Esteve-Rudd,J., Zhong,H.,
            Letteboer,S., Van Reeuwijk,J., Simons,D.L., Ding,Q., Wu,K.M.,
            Li,Y., Van Beersum,S., Moayedi,Y., Xu,H., Pickard,P., Wang,K.,
            Gan,L., Wu,S.M., Williams,D.S., Mardon,G., Roepman,R. and Chen,R.
  TITLE     Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1
            localization and protein trafficking in the retina
  JOURNAL   Hum Mol Genet 24 (6), 1584-1601 (2015)
   PUBMED   25398945
REFERENCE   8  (residues 1 to 550)
  AUTHORS   Koscielny,G., Yaikhom,G., Iyer,V., Meehan,T.F., Morgan,H.,
            Atienza-Herrero,J., Blake,A., Chen,C.K., Easty,R., Di Fenza,A.,
            Fiegel,T., Grifiths,M., Horne,A., Karp,N.A., Kurbatova,N.,
            Mason,J.C., Matthews,P., Oakley,D.J., Qazi,A., Regnart,J.,
            Retha,A., Santos,L.A., Sneddon,D.J., Warren,J., Westerberg,H.,
            Wilson,R.J., Melvin,D.G., Smedley,D., Brown,S.D., Flicek,P.,
            Skarnes,W.C., Mallon,A.M. and Parkinson,H.
  TITLE     The International Mouse Phenotyping Consortium Web Portal, a
            unified point of access for knockout mice and related phenotyping
            data
  JOURNAL   Nucleic Acids Res 42 (Database issue), D802-D809 (2014)
   PUBMED   24194600
REFERENCE   9  (residues 1 to 550)
  AUTHORS   Wang,H., den Hollander,A.I., Moayedi,Y., Abulimiti,A., Li,Y.,
            Collin,R.W., Hoyng,C.B., Lopez,I., Abboud,E.B., Al-Rajhi,A.A.,
            Bray,M., Lewis,R.A., Lupski,J.R., Mardon,G., Koenekoop,R.K. and
            Chen,R.
  TITLE     Mutations in SPATA7 cause Leber congenital amaurosis and juvenile
            retinitis pigmentosa
  JOURNAL   Am J Hum Genet 84 (3), 380-387 (2009)
   PUBMED   19268277
  REMARK    GeneRIF: Spata7 is expressed in the mature mouse retina.
            Erratum:[Am J Hum Genet. 2010 Feb;86(2):293. Abboud, Emad B
            [added]; Al-Rajhi, Ali A [added]]
REFERENCE   10 (residues 1 to 550)
  AUTHORS   Blackshaw,S., Harpavat,S., Trimarchi,J., Cai,L., Huang,H.,
            Kuo,W.P., Weber,G., Lee,K., Fraioli,R.E., Cho,S.H., Yung,R.,
            Asch,E., Ohno-Machado,L., Wong,W.H. and Cepko,C.L.
  TITLE     Genomic analysis of mouse retinal development
  JOURNAL   PLoS Biol 2 (9), E247 (2004)
   PUBMED   15226823
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY252962.1, AK161308.1 and AK153698.1.
            
            On Jan 24, 2014 this sequence version replaced XP_006515420.1.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. The encoded
            protein (isoform 2) is shorter, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK161308.1, DQ196101.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849381, SAMN00849384
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..550
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 49.88 cM"
     Protein         1..550
                     /product="spermatogenesis-associated protein 7 homolog
                     isoform 2"
                     /note="spermatogenesis-associated protein 7 homolog"
                     /calculated_mol_wt=61950
     Region          9..376
                     /region_name="HSD3"
                     /note="Spermatogenesis-associated protein 7, or HSD3;
                     pfam15244"
                     /db_xref="CDD:464584"
     CDS             1..550
                     /gene="Spata7"
                     /gene_synonym="B230306G18Rik; HSD3"
                     /coded_by="NM_001289572.1:175..1827"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS70413.1"
                     /db_xref="GeneID:104871"
                     /db_xref="MGI:MGI:2144877"
ORIGIN      
        1 mdgsrrvrat svlprysppc lftghlstks naavdcsipv svntsikyad qqrreklrke
       61 larcekefkl sksamqtnsk mnskffvnsl qkpsgepqdq dvfieemtry psfskslips
      121 seglhlslpe sskmlmsgtq khastspsrh sgcghgcdrr prsahqfqva laktpsgdll
      181 ekhsdlfsnk qspftprtlk teaksflsqy ryytpakrrk dfsdqrmeae tqtelssfns
      241 elgtaektss kdsevninqv pnytrngaed kiaplpsqgq nlawdsiqdg ilqqsseras
      301 cklstefspd skiysdeeel lylsfmenvt deilklglfs nrflerlfer hikknkhhle
      361 egkmryllhg lkvdlgcise edpakqkhfr mlnqlhfqka lisrenefvs deetvshher
      421 qqyqealdml savpkdenkm fslpgeflip ahkvkhsegv iiqqvndetd neaspwnenn
      481 psvsdsvidq etsvdviegd sdferaetsr elcclstsls psgpfpsing gsnhgkelst
      541 lrimgmsied
//
