MSPD1_HUMAN
ID MSPD1_HUMAN Reviewed; 213 AA.
AC Q9UJG1; B2RE62; D3DTG5; Q5H9C5; Q5H9C7;
DT 07-JUN-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Motile sperm domain-containing protein 1;
GN Name=MOSPD1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Rhodes S., Huckle E.;
RT "Novel human gene mapping to chromosome X.";
RL Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORMS 2 AND 3).
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP VARIANT [LARGE SCALE ANALYSIS] ILE-63.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [7]
RP DEVELOPMENTAL STAGE.
RX PubMed=26175344; DOI=10.1002/stem.2102;
RA Kara M., Axton R.A., Jackson M., Ghaffari S., Buerger K., Watt A.J.,
RA Taylor A.H., Orr B., Hardy W.R., Peault B., Forrester L.M.;
RT "A role for MOSPD1 in mesenchymal stem cell proliferation and
RT differentiation.";
RL Stem Cells 33:3077-3086(2015).
CC -!- FUNCTION: Plays a role in differentiation and/or proliferation of
CC mesenchymal stem cells. Proposed to be involved in epithelial-to-
CC mesenchymal transition (EMT). However, another study suggests that it
CC is not required for EMT or stem cell self-renewal and acts during later
CC stages of differentiation. {ECO:0000250|UniProtKB:Q8VEL0}.
CC -!- INTERACTION:
CC Q9UJG1; Q96D05-2: FAM241B; NbExp=3; IntAct=EBI-12245642, EBI-12118888;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000250|UniProtKB:Q8VEL0}; Multi-pass membrane protein
CC {ECO:0000255}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q8VEL0};
CC Multi-pass membrane protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9UJG1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UJG1-2; Sequence=VSP_014044;
CC Name=3;
CC IsoId=Q9UJG1-3; Sequence=VSP_014043;
CC -!- DEVELOPMENTAL STAGE: Has low expression in pericytes and adventitial
CC vascular cells (ASC) derived from adipose tissue. Highly expressed in
CC differentiating mesenchymal stem cells derived from pericytes and ASC.
CC {ECO:0000269|PubMed:26175344}.
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DR EMBL; AL137163; CAB69662.1; -; mRNA.
DR EMBL; AK316570; BAG38159.1; -; mRNA.
DR EMBL; Z83826; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471107; EAX11743.1; -; Genomic_DNA.
DR EMBL; CH471107; EAX11744.1; -; Genomic_DNA.
DR EMBL; BC005700; AAH05700.1; -; mRNA.
DR CCDS; CCDS14645.1; -. [Q9UJG1-1]
DR CCDS; CCDS78507.1; -. [Q9UJG1-2]
DR RefSeq; NP_001293117.1; NM_001306188.1. [Q9UJG1-2]
DR RefSeq; NP_062456.1; NM_019556.2. [Q9UJG1-1]
DR RefSeq; XP_011529668.1; XM_011531366.2. [Q9UJG1-1]
DR RefSeq; XP_016885142.1; XM_017029653.1. [Q9UJG1-1]
DR RefSeq; XP_016885143.1; XM_017029654.1. [Q9UJG1-2]
DR AlphaFoldDB; Q9UJG1; -.
DR SMR; Q9UJG1; -.
DR BioGRID; 121105; 6.
DR IntAct; Q9UJG1; 1.
DR STRING; 9606.ENSP00000359819; -.
DR iPTMnet; Q9UJG1; -.
DR PhosphoSitePlus; Q9UJG1; -.
DR BioMuta; MOSPD1; -.
DR DMDM; 67461085; -.
DR EPD; Q9UJG1; -.
DR jPOST; Q9UJG1; -.
DR MassIVE; Q9UJG1; -.
DR MaxQB; Q9UJG1; -.
DR PaxDb; Q9UJG1; -.
DR PeptideAtlas; Q9UJG1; -.
DR PRIDE; Q9UJG1; -.
DR ProteomicsDB; 84622; -. [Q9UJG1-1]
DR ProteomicsDB; 84623; -. [Q9UJG1-2]
DR ProteomicsDB; 84624; -. [Q9UJG1-3]
DR TopDownProteomics; Q9UJG1-1; -. [Q9UJG1-1]
DR TopDownProteomics; Q9UJG1-2; -. [Q9UJG1-2]
DR Antibodypedia; 30323; 50 antibodies from 18 providers.
DR DNASU; 56180; -.
DR Ensembl; ENST00000370777.1; ENSP00000359813.1; ENSG00000101928.13. [Q9UJG1-3]
DR Ensembl; ENST00000370779.8; ENSP00000359815.4; ENSG00000101928.13. [Q9UJG1-2]
DR Ensembl; ENST00000370783.8; ENSP00000359819.3; ENSG00000101928.13. [Q9UJG1-1]
DR GeneID; 56180; -.
DR KEGG; hsa:56180; -.
DR MANE-Select; ENST00000370783.8; ENSP00000359819.3; NM_019556.3; NP_062456.1.
DR UCSC; uc004eyb.4; human. [Q9UJG1-1]
DR CTD; 56180; -.
DR DisGeNET; 56180; -.
DR GeneCards; MOSPD1; -.
DR HGNC; HGNC:25235; MOSPD1.
DR HPA; ENSG00000101928; Low tissue specificity.
DR MIM; 300674; gene.
DR neXtProt; NX_Q9UJG1; -.
DR OpenTargets; ENSG00000101928; -.
DR PharmGKB; PA134956517; -.
DR VEuPathDB; HostDB:ENSG00000101928; -.
DR eggNOG; KOG0439; Eukaryota.
DR GeneTree; ENSGT00940000155266; -.
DR HOGENOM; CLU_088040_0_0_1; -.
DR InParanoid; Q9UJG1; -.
DR OMA; KVLCNAP; -.
DR OrthoDB; 1197131at2759; -.
DR PhylomeDB; Q9UJG1; -.
DR TreeFam; TF319778; -.
DR PathwayCommons; Q9UJG1; -.
DR SignaLink; Q9UJG1; -.
DR BioGRID-ORCS; 56180; 10 hits in 709 CRISPR screens.
DR ChiTaRS; MOSPD1; human.
DR GenomeRNAi; 56180; -.
DR Pharos; Q9UJG1; Tdark.
DR PRO; PR:Q9UJG1; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9UJG1; protein.
DR Bgee; ENSG00000101928; Expressed in choroid plexus epithelium and 194 other tissues.
DR Genevisible; Q9UJG1; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:BHF-UCL.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005634; C:nucleus; ISS:BHF-UCL.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; ISS:BHF-UCL.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR039283; MOSPD1.
DR InterPro; IPR000535; MSP_dom.
DR InterPro; IPR008962; PapD-like_sf.
DR PANTHER; PTHR34441; PTHR34441; 1.
DR Pfam; PF00635; Motile_Sperm; 1.
DR SUPFAM; SSF49354; SSF49354; 1.
DR PROSITE; PS50202; MSP; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Differentiation; Endoplasmic reticulum;
KW Golgi apparatus; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..213
FT /note="Motile sperm domain-containing protein 1"
FT /id="PRO_0000213459"
FT TRANSMEM 159..179
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 191..211
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 16..143
FT /note="MSP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00132"
FT MOTIF 205..208
FT /note="Nuclear export signal"
FT /evidence="ECO:0000250|UniProtKB:Q8VEL0"
FT VAR_SEQ 149..150
FT /note="PE -> PGK (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_014043"
FT VAR_SEQ 150..203
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_014044"
FT VARIANT 63
FT /note="V -> I (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036601"
SQ SEQUENCE 213 AA; 24086 MW; 2E0944F48058B47F CRC64;
MHQQKRQPEL VEGNLPVFVF PTELIFYADD QSTHKQVLTL YNPYEFALKF KVLCTTPNKY
VVVDAAGAVK PQCCVDIVIR HRDVRSCHYG VIDKFRLQVS EQSQRKALGR KEVVATLLPS
AKEQQKEEEE KRLKEHLTES LFFEQSFQPE NRAVSSGPSL LTVFLGVVCI AALMLPTLGD
VESLVPLYLH LSVNQKLVAA YILGLITMAI LRT
