LOCUS       NM_019556               2348 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens motile sperm domain containing 1 (MOSPD1), transcript
            variant 1, mRNA.
ACCESSION   NM_019556
VERSION     NM_019556.3
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 2348)
  AUTHORS   Cabukusta,B., Berlin,I., van Elsland,D.M., Forkink,I., Spits,M., de
            Jong,A.W.M., Akkermans,J.J.L.L., Wijdeven,R.H.M., Janssen,G.M.C.,
            van Veelen,P.A. and Neefjes,J.
  TITLE     Human VAPome Analysis Reveals MOSPD1 and MOSPD3 as Membrane Contact
            Site Proteins Interacting with FFAT-Related FFNT Motifs
  JOURNAL   Cell Rep 33 (10), 108475 (2020)
   PUBMED   33296653
  REMARK    GeneRIF: Human VAPome Analysis Reveals MOSPD1 and MOSPD3 as
            Membrane Contact Site Proteins Interacting with FFAT-Related FFNT
            Motifs.
            Erratum:[Cell Rep. 2023 Jul 25;42(7):112849. doi:
            10.1016/j.celrep.2023.112849.. PMID: 37440407]
REFERENCE   2  (bases 1 to 2348)
  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   3  (bases 1 to 2348)
  AUTHORS   Hirota,Y., Minami,T., Sato,T., Yokomizo,A., Matsumoto,A., Goto,M.,
            Jinbo,E. and Yamamgata,T.
  TITLE     Xq26.1-26.3 duplication including MOSPD1 and GPC3 identified in boy
            with short stature and double outlet right ventricle
  JOURNAL   Am J Med Genet A 173 (9), 2446-2450 (2017)
   PUBMED   28636109
  REMARK    GeneRIF: MOSPD1 is a possible candidate gene for DORV, probably in
            combination with GPC3. Further studies of the combined functions of
            MOSPD1 and GPC3 are needed, and identification of additional
            patients with MOSPD1 and GPC3 duplication should be pursued
REFERENCE   4  (bases 1 to 2348)
  AUTHORS   Kara,M., Axton,R.A., Jackson,M., Ghaffari,S., Buerger,K.,
            Watt,A.J., Taylor,A.H., Orr,B., Hardy,W.R., Peault,B. and
            Forrester,L.M.
  TITLE     A Role for MOSPD1 in Mesenchymal Stem Cell Proliferation and
            Differentiation
  JOURNAL   Stem Cells 33 (10), 3077-3086 (2015)
   PUBMED   26175344
  REMARK    GeneRIF: Our in vitro studies were supported by RNA-sequencing data
            that confirmed expression of Mospd1 mRNA in cultured, proliferating
            perivascular pre-MSCs isolated from human tissue
REFERENCE   5  (bases 1 to 2348)
  AUTHORS   Hasegawa,Y., Taylor,D., Ovchinnikov,D.A., Wolvetang,E.J., de
            Torrente,L. and Mar,J.C.
  TITLE     Variability of Gene Expression Identifies Transcriptional
            Regulators of Early Human Embryonic Development
  JOURNAL   PLoS Genet 11 (8), e1005428 (2015)
   PUBMED   26288249
  REMARK    GeneRIF: Results from a study on gene expression variability
            markers in early-stage human embryos shows that MOSPD1 is a
            putative marker for the 3-day, 8-cell embryo stage.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2348)
  AUTHORS   Ross,M.T., Grafham,D.V., Coffey,A.J., Scherer,S., McLay,K.,
            Muzny,D., Platzer,M., Howell,G.R., Burrows,C., Bird,C.P.,
            Frankish,A., Lovell,F.L., Howe,K.L., Ashurst,J.L., Fulton,R.S.,
            Sudbrak,R., Wen,G., Jones,M.C., Hurles,M.E., Andrews,T.D.,
            Scott,C.E., Searle,S., Ramser,J., Whittaker,A., Deadman,R.,
            Carter,N.P., Hunt,S.E., Chen,R., Cree,A., Gunaratne,P., Havlak,P.,
            Hodgson,A., Metzker,M.L., Richards,S., Scott,G., Steffen,D.,
            Sodergren,E., Wheeler,D.A., Worley,K.C., Ainscough,R.,
            Ambrose,K.D., Ansari-Lari,M.A., Aradhya,S., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Ballabio,A., Banerjee,R., Barker,G.E.,
            Barlow,K.F., Barrett,I.P., Bates,K.N., Beare,D.M., Beasley,H.,
            Beasley,O., Beck,A., Bethel,G., Blechschmidt,K., Brady,N.,
            Bray-Allen,S., Bridgeman,A.M., Brown,A.J., Brown,M.J., Bonnin,D.,
            Bruford,E.A., Buhay,C., Burch,P., Burford,D., Burgess,J.,
            Burrill,W., Burton,J., Bye,J.M., Carder,C., Carrel,L., Chako,J.,
            Chapman,J.C., Chavez,D., Chen,E., Chen,G., Chen,Y., Chen,Z.,
            Chinault,C., Ciccodicola,A., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S., Clerc-Blankenburg,K., Clifford,K., Cobley,V., Cole,C.G.,
            Conquer,J.S., Corby,N., Connor,R.E., David,R., Davies,J., Davis,C.,
            Davis,J., Delgado,O., Deshazo,D., Dhami,P., Ding,Y., Dinh,H.,
            Dodsworth,S., Draper,H., Dugan-Rocha,S., Dunham,A., Dunn,M.,
            Durbin,K.J., Dutta,I., Eades,T., Ellwood,M., Emery-Cohen,A.,
            Errington,H., Evans,K.L., Faulkner,L., Francis,F., Frankland,J.,
            Fraser,A.E., Galgoczy,P., Gilbert,J., Gill,R., Glockner,G.,
            Gregory,S.G., Gribble,S., Griffiths,C., Grocock,R., Gu,Y.,
            Gwilliam,R., Hamilton,C., Hart,E.A., Hawes,A., Heath,P.D.,
            Heitmann,K., Hennig,S., Hernandez,J., Hinzmann,B., Ho,S., Hoffs,M.,
            Howden,P.J., Huckle,E.J., Hume,J., Hunt,P.J., Hunt,A.R.,
            Isherwood,J., Jacob,L., Johnson,D., Jones,S., de Jong,P.J.,
            Joseph,S.S., Keenan,S., Kelly,S., Kershaw,J.K., Khan,Z.,
            Kioschis,P., Klages,S., Knights,A.J., Kosiura,A., Kovar-Smith,C.,
            Laird,G.K., Langford,C., Lawlor,S., Leversha,M., Lewis,L., Liu,W.,
            Lloyd,C., Lloyd,D.M., Loulseged,H., Loveland,J.E., Lovell,J.D.,
            Lozado,R., Lu,J., Lyne,R., Ma,J., Maheshwari,M., Matthews,L.H.,
            McDowall,J., McLaren,S., McMurray,A., Meidl,P., Meitinger,T.,
            Milne,S., Miner,G., Mistry,S.L., Morgan,M., Morris,S., Muller,I.,
            Mullikin,J.C., Nguyen,N., Nordsiek,G., Nyakatura,G., O'Dell,C.N.,
            Okwuonu,G., Palmer,S., Pandian,R., Parker,D., Parrish,J.,
            Pasternak,S., Patel,D., Pearce,A.V., Pearson,D.M., Pelan,S.E.,
            Perez,L., Porter,K.M., Ramsey,Y., Reichwald,K., Rhodes,S.,
            Ridler,K.A., Schlessinger,D., Schueler,M.G., Sehra,H.K.,
            Shaw-Smith,C., Shen,H., Sheridan,E.M., Shownkeen,R., Skuce,C.D.,
            Smith,M.L., Sotheran,E.C., Steingruber,H.E., Steward,C.A.,
            Storey,R., Swann,R.M., Swarbreck,D., Tabor,P.E., Taudien,S.,
            Taylor,T., Teague,B., Thomas,K., Thorpe,A., Timms,K., Tracey,A.,
            Trevanion,S., Tromans,A.C., d'Urso,M., Verduzco,D., Villasana,D.,
            Waldron,L., Wall,M., Wang,Q., Warren,J., Warry,G.L., Wei,X.,
            West,A., Whitehead,S.L., Whiteley,M.N., Wilkinson,J.E.,
            Willey,D.L., Williams,G., Williams,L., Williamson,A.,
            Williamson,H., Wilming,L., Woodmansey,R.L., Wray,P.W., Yen,J.,
            Zhang,J., Zhou,J., Zoghbi,H., Zorilla,S., Buck,D., Reinhardt,R.,
            Poustka,A., Rosenthal,A., Lehrach,H., Meindl,A., Minx,P.J.,
            Hillier,L.W., Willard,H.F., Wilson,R.K., Waterston,R.H., Rice,C.M.,
            Vaudin,M., Coulson,A., Nelson,D.L., Weinstock,G., Sulston,J.E.,
            Durbin,R., Hubbard,T., Gibbs,R.A., Beck,S., Rogers,J. and
            Bentley,D.R.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   7  (bases 1 to 2348)
  AUTHORS   Pall,G.S., Wallis,J., Axton,R., Brownstein,D.G., Gautier,P.,
            Buerger,K., Mulford,C., Mullins,J.J. and Forrester,L.M.
  TITLE     A novel transmembrane MSP-containing protein that plays a role in
            right ventricle development
  JOURNAL   Genomics 84 (6), 1051-1059 (2004)
   PUBMED   15533722
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CN428237.1 and BC005700.1.
            
            On Nov 22, 2018 this sequence version replaced NM_019556.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL137163.1, SRR1803613.136891.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370783.8/ ENSP00000359819.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                CN428237.1         90-99
            11-2348             BC005700.1         1-2338
FEATURES             Location/Qualifiers
     source          1..2348
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     gene            1..2348
                     /gene="MOSPD1"
                     /gene_synonym="DJ473B4"
                     /note="motile sperm domain containing 1"
                     /db_xref="GeneID:56180"
                     /db_xref="HGNC:HGNC:25235"
                     /db_xref="MIM:300674"
     exon            1..76
                     /gene="MOSPD1"
                     /gene_synonym="DJ473B4"
                     /inference="alignment:Splign:2.1.0"
     exon            77..331
                     /gene="MOSPD1"
                     /gene_synonym="DJ473B4"
                     /inference="alignment:Splign:2.1.0"
     CDS             178..819
                     /gene="MOSPD1"
                     /gene_synonym="DJ473B4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     motile sperm domain-containing protein 1"
                     /codon_start=1
                     /product="motile sperm domain-containing protein 1 isoform
                     1"
                     /protein_id="NP_062456.1"
                     /db_xref="CCDS:CCDS14645.1"
                     /db_xref="GeneID:56180"
                     /db_xref="HGNC:HGNC:25235"
                     /db_xref="MIM:300674"
                     /translation="MHQQKRQPELVEGNLPVFVFPTELIFYADDQSTHKQVLTLYNPY
                     EFALKFKVLCTTPNKYVVVDAAGAVKPQCCVDIVIRHRDVRSCHYGVIDKFRLQVSEQ
                     SQRKALGRKEVVATLLPSAKEQQKEEEEKRLKEHLTESLFFEQSFQPENRAVSSGPSL
                     LTVFLGVVCIAALMLPTLGDVESLVPLYLHLSVNQKLVAAYILGLITMAILRT"
     exon            332..407
                     /gene="MOSPD1"
                     /gene_synonym="DJ473B4"
                     /inference="alignment:Splign:2.1.0"
     exon            408..625
                     /gene="MOSPD1"
                     /gene_synonym="DJ473B4"
                     /inference="alignment:Splign:2.1.0"
     exon            626..787
                     /gene="MOSPD1"
                     /gene_synonym="DJ473B4"
                     /inference="alignment:Splign:2.1.0"
     exon            788..2348
                     /gene="MOSPD1"
                     /gene_synonym="DJ473B4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2326..2331
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MOSPD1"
                     /gene_synonym="DJ473B4"
                     /note="hexamer: AATAAA"
     polyA_site      2348
                     /gene="MOSPD1"
                     /gene_synonym="DJ473B4"
                     /note="major polyA site"
ORIGIN      
        1 agtgcagcct agagacgctg acaaaggagc ggaggagcag tcgcagctgc tttccgagga
       61 agccggtgtt gccgagattg ccaaaatgct ttggagtttt taactgaatc taagaaaagt
      121 ccaaaataga tttgagactg taaaaacaga aactgcagca agggggattc agtgccaatg
      181 catcaacaaa aaagacaacc agagttagtg gaaggaaatc ttcctgtttt cgtgttcccc
      241 acggagctca tattttatgc agatgatcag tcaacacata agcaagtgtt gacactgtac
      301 aatccctatg agtttgcctt aaagttcaaa gttttgtgta ctactccaaa taagtatgtt
      361 gtcgttgatg ctgcaggtgc agtaaagcct cagtgttgtg tggatattgt gattcgtcat
      421 cgagatgttc gatcctgtca ctatggtgta atagacaaat tccgtctcca agtttccgag
      481 caaagccaaa ggaaggcttt gggaagaaaa gaggttgttg ctactcttct cccatcagca
      541 aaagaacaac aaaaggaaga agaggaaaaa agattaaagg aacatttaac tgaaagttta
      601 ttttttgagc agtcgtttca accagaaaac agagctgtat cctcaggacc tagtttacta
      661 actgtcttcc tgggagtggt gtgcattgca gccctgatgc tgcctacact gggggatgtg
      721 gaatcgctgg tgcctctcta cctccactta agtgtgaatc aaaaattagt ggctgcttat
      781 atcttaggtc ttatcacaat ggccatactt agaacatgag caaggatttc aattgacttc
      841 tgaagtaaat ctgtcttgaa aatatgaatg tggactgcct tttatctcta tttcactcca
      901 ttaacatgca acaaactatt gaatgatttc aaataattgc aaatgtataa tatatatttt
      961 aaattataat ttaatttgaa ggactgcaga acattatttt acagacagca aggatgcttc
     1021 tgagtgacac ctaggaaatt atttgaagaa attcttttta tatctatacc tgttgtgtaa
     1081 gaaactttaa aacatttgtt attttctcac ctttttttct aattcacttt gattgctagg
     1141 ggtcatgtat gcttcgaagt tacaggacta aaagagcaaa ctgaccggcc taaaactaaa
     1201 atgacattta ttccctagct acaaacatca gcgttattat gttaattata ccttgccctc
     1261 tatcattata aatggttgcc atggtgtttc taaaaataag tgttttacca ttaatgtgta
     1321 gagggcaaac aaagcataaa gtactaaggg atcatgctta tcctagggtc tcacagaaga
     1381 gaggacatat ttaattaatc ttgtgaatta cagaacaggt tgtggtccag acaccaagaa
     1441 tcataggggt ttttttttaa aaaacctaat agaagtaggg tgacctctct ctttggtcta
     1501 agagttctaa aggaaggtag gcatctgttt aattagttgg ttcaccctgg ctttacctct
     1561 ggttaatgct ttgtgttaat aggaaggaaa aatcacttta tcttttcttc caagcccctc
     1621 cctgcctgac ttacccagac tgggattacc agataccagg tgatttatgt ggagatgatt
     1681 tttcaccttt aaactctaag ccaagtgtaa gaaactcttg atagctatgt ctattttata
     1741 tcagtcactg agactttttt ttaagttttt atttattatt aagacaactt tgccaaaaaa
     1801 gtcccctaag cacaactatt tacatttctt tatagcctct tctgatctct aacacatatg
     1861 cagttttaac tgttattttc atagtaactg atcttttgtc taaggatttt tacctgaaag
     1921 cacaatgtat tgagtctctt gaaaatcatc tttcagatct ttttacagaa tgaacttatg
     1981 cactgctact gtagtattct caaggaatat atgtaaacac aaatgtatgc ctgaggttgg
     2041 tttttgcaga aaacagtctc tgcttctaaa aacttctatg tctagtcttc cataggaaat
     2101 cctcactgtt taaccatgtg aggagcctaa gtcattaaac ggatcatgtc tgtacattgt
     2161 gtaatgaatg aaaagcacat aaatgtaatc tactttgaac tttgtaaaaa tgatgtgtgg
     2221 aggctattct tgtttctcca tctcaagtcc tgtgtgtgca cgtgtgtgca agtgcacatg
     2281 tgtgtgtgta ataacacatt gtaaagaaca gaaattactt taaaaaataa acagaaatgg
     2341 agacctga
//
