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TMM95_HUMAN
ID   TMM95_HUMAN             Reviewed;         176 AA.
AC   Q3KNT9; B7WPI7; Q6UXT3; Q8IW68;
DT   15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT   08-NOV-2005, sequence version 1.
DT   03-AUG-2022, entry version 102.
DE   RecName: Full=Sperm-egg fusion protein TMEM95 {ECO:0000305};
DE   AltName: Full=Transmembrane protein 95 {ECO:0000312|HGNC:HGNC:27898};
DE   Flags: Precursor;
GN   Name=TMEM95 {ECO:0000312|HGNC:HGNC:27898}; ORFNames=UNQ9390/PRO34281;
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 2).
RX   PubMed=12975309; DOI=10.1101/gr.1293003;
RA   Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA   Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA   Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA   Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA   Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA   Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA   Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA   Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT   "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT   identify novel human secreted and transmembrane proteins: a bioinformatics
RT   assessment.";
RL   Genome Res. 13:2265-2270(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16625196; DOI=10.1038/nature04689;
RA   Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA   Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA   Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA   Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA   DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA   Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA   Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA   LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA   Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA   Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA   Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA   Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA   Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT   "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT   human lineage.";
RL   Nature 440:1045-1049(2006).
RN   [3]
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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC   TISSUE=Brain;
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).
CC   -!- FUNCTION: Sperm protein required for fusion of sperm with the egg
CC       membrane during fertilization. {ECO:0000250|UniProtKB:P0DJF3}.
CC   -!- SUBUNIT: Does not interact with sperm-egg fusion proteins IZUMO1 or
CC       IZUMO1R/JUNO. {ECO:0000250|UniProtKB:P0DJF3}.
CC   -!- INTERACTION:
CC       Q3KNT9; Q8WUW1: BRK1; NbExp=3; IntAct=EBI-12892569, EBI-2837444;
CC       Q3KNT9; Q99828: CIB1; NbExp=3; IntAct=EBI-12892569, EBI-372594;
CC       Q3KNT9; P57086: SCAND1; NbExp=3; IntAct=EBI-12892569, EBI-745846;
CC   -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome
CC       membrane {ECO:0000250|UniProtKB:P0DJF3}; Single-pass type I membrane
CC       protein {ECO:0000305}. Note=Following the acrosome reaction,
CC       relocalizes to the equatorial segment. {ECO:0000250|UniProtKB:P0DJF3}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q3KNT9-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q3KNT9-2; Sequence=VSP_025245;
CC       Name=3;
CC         IsoId=Q3KNT9-3; Sequence=VSP_025246;
CC   -!- SIMILARITY: Belongs to the TMEM95 family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH40900.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR   EMBL; AY358218; AAQ88585.1; -; mRNA.
DR   EMBL; AC026954; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471108; EAW90205.1; -; Genomic_DNA.
DR   EMBL; BC040900; AAH40900.1; ALT_INIT; mRNA.
DR   EMBL; BC107110; AAI07111.1; -; mRNA.
DR   CCDS; CCDS32546.1; -. [Q3KNT9-2]
DR   CCDS; CCDS82051.1; -. [Q3KNT9-1]
DR   CCDS; CCDS82052.1; -. [Q3KNT9-3]
DR   RefSeq; NP_001307364.1; NM_001320435.1. [Q3KNT9-3]
DR   RefSeq; NP_001307365.1; NM_001320436.1. [Q3KNT9-1]
DR   RefSeq; NP_937797.1; NM_198154.2. [Q3KNT9-2]
DR   RefSeq; XP_016880057.1; XM_017024568.1. [Q3KNT9-1]
DR   RefSeq; XP_016880058.1; XM_017024569.1. [Q3KNT9-1]
DR   AlphaFoldDB; Q3KNT9; -.
DR   BioGRID; 130835; 18.
DR   IntAct; Q3KNT9; 3.
DR   STRING; 9606.ENSP00000331466; -.
DR   iPTMnet; Q3KNT9; -.
DR   PhosphoSitePlus; Q3KNT9; -.
DR   BioMuta; TMEM95; -.
DR   DMDM; 121942532; -.
DR   MassIVE; Q3KNT9; -.
DR   PaxDb; Q3KNT9; -.
DR   PeptideAtlas; Q3KNT9; -.
DR   PRIDE; Q3KNT9; -.
DR   Antibodypedia; 76550; 28 antibodies from 5 providers.
DR   DNASU; 339168; -.
DR   Ensembl; ENST00000330767.4; ENSP00000331466.4; ENSG00000182896.13. [Q3KNT9-2]
DR   Ensembl; ENST00000389982.8; ENSP00000374632.4; ENSG00000182896.13. [Q3KNT9-3]
DR   Ensembl; ENST00000576060.6; ENSP00000460828.1; ENSG00000182896.13. [Q3KNT9-1]
DR   Ensembl; ENST00000672158.1; ENSP00000500075.1; ENSG00000288511.3. [Q3KNT9-3]
DR   Ensembl; ENST00000673329.3; ENSP00000500787.1; ENSG00000288511.3. [Q3KNT9-1]
DR   Ensembl; ENST00000673610.1; ENSP00000500018.1; ENSG00000288511.3. [Q3KNT9-2]
DR   GeneID; 339168; -.
DR   KEGG; hsa:339168; -.
DR   MANE-Select; ENST00000576060.6; ENSP00000460828.1; NM_001320436.2; NP_001307365.1.
DR   UCSC; uc002ggf.1; human. [Q3KNT9-1]
DR   CTD; 339168; -.
DR   DisGeNET; 339168; -.
DR   GeneCards; TMEM95; -.
DR   HGNC; HGNC:27898; TMEM95.
DR   HPA; ENSG00000182896; Tissue enriched (testis).
DR   MIM; 617814; gene.
DR   neXtProt; NX_Q3KNT9; -.
DR   OpenTargets; ENSG00000182896; -.
DR   PharmGKB; PA142670746; -.
DR   VEuPathDB; HostDB:ENSG00000182896; -.
DR   eggNOG; ENOG502S64R; Eukaryota.
DR   GeneTree; ENSGT00390000018162; -.
DR   HOGENOM; CLU_1354216_0_0_1; -.
DR   InParanoid; Q3KNT9; -.
DR   OMA; WPRKRCL; -.
DR   OrthoDB; 1385077at2759; -.
DR   PhylomeDB; Q3KNT9; -.
DR   TreeFam; TF342122; -.
DR   PathwayCommons; Q3KNT9; -.
DR   SignaLink; Q3KNT9; -.
DR   BioGRID-ORCS; 339168; 13 hits in 1062 CRISPR screens.
DR   GenomeRNAi; 339168; -.
DR   Pharos; Q3KNT9; Tdark.
DR   PRO; PR:Q3KNT9; -.
DR   Proteomes; UP000005640; Chromosome 17.
DR   RNAct; Q3KNT9; protein.
DR   Bgee; ENSG00000182896; Expressed in left testis and 36 other tissues.
DR   Genevisible; Q3KNT9; HS.
DR   GO; GO:0002080; C:acrosomal membrane; ISS:UniProtKB.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0097524; C:sperm plasma membrane; IEA:InterPro.
DR   GO; GO:0007342; P:fusion of sperm to egg plasma membrane involved in single fertilization; ISS:UniProtKB.
DR   InterPro; IPR027984; TMEM95.
DR   PANTHER; PTHR38808; PTHR38808; 1.
DR   Pfam; PF15203; TMEM95; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cytoplasmic vesicle; Fertilization; Membrane;
KW   Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT   SIGNAL          1..16
FT                   /evidence="ECO:0000255"
FT   CHAIN           17..176
FT                   /note="Sperm-egg fusion protein TMEM95"
FT                   /id="PRO_0000286970"
FT   TOPO_DOM        17..145
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        146..166
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        167..176
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         110
FT                   /note="R -> PLPLLSPAG (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:12975309"
FT                   /id="VSP_025245"
FT   VAR_SEQ         139..176
FT                   /note="QDLWEAKILLLSIFGAFLLLGVLSLLVESHHLQAKSGL -> LGSQDSAPLH
FT                   LRSFPASGCSEPPGGVPPPPSKKWLVKTLKTSQPPALRGMHSQLPHPLEGNQSAP (in
FT                   isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_025246"
SQ   SEQUENCE   176 AA;  19597 MW;  54D3E8207072D655 CRC64;
     MWRLALGGVF LAAAQACVFC RLPAHDLSGR LARLCSQMEA RQKECGASPD FSAFALDEVS
     MNKVTEKTHR VLRVMEIKEA VSSLPSYWSW LRKTKLPEYT REALCPPACR GSTTLYNCST
     CKGTEVSCWP RKRCFPGSQD LWEAKILLLS IFGAFLLLGV LSLLVESHHL QAKSGL
 
 
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