ID   SMIP7_HUMAN             Reviewed;         438 AA.
AC   A4D263; A6NDX9;
DT   29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT   24-NOV-2009, sequence version 2.
DT   27-MAR-2024, entry version 91.
DE   RecName: Full=Protein SPMIP7 {ECO:0000305};
DE   AltName: Full=Sperm microtubule inner protein 7 {ECO:0000312|HGNC:HGNC:22564};
DE   AltName: Full=Spermatogenesis-associated protein 48 {ECO:0000312|HGNC:HGNC:22564};
GN   Name=SPMIP7 {ECO:0000312|HGNC:HGNC:22564}; Synonyms=C7orf72, SPATA48;
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 GENOMIC DNA].
RX   PubMed=12853948; DOI=10.1038/nature01782;
RA   Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA   Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA   Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA   Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA   Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA   Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA   Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA   Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA   Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA   Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA   Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA   Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA   Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA   Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA   Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA   Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA   Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA   McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA   Wilson R.K.;
RT   "The DNA sequence of human chromosome 7.";
RL   Nature 424:157-164(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12690205; DOI=10.1126/science.1083423;
RA   Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA   Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA   Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA   Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA   Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA   Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA   Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA   Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA   Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA   Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA   Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA   Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA   Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA   Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA   Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA   Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA   Adams M.D., Tsui L.-C.;
RT   "Human chromosome 7: DNA sequence and biology.";
RL   Science 300:767-772(2003).
RN   [3]
RP   TISSUE SPECIFICITY.
RX   PubMed=29700843; DOI=10.1111/and.13027;
RA   Zhang J., Yan R., Wu C., Wang H., Yang G., Zhong Y., Liu Y., Wan L.,
RA   Tang A.;
RT   "Spermatogenesis-associated 48 is essential for spermatogenesis in mice.";
RL   Andrologia 50:e13027-e13027(2018).
RN   [4]
RP   IDENTIFICATION BY MASS SPECTROMETRY, TISSUE SPECIFICITY, AND INDUCTION.
RX   PubMed=36896575; DOI=10.1111/andr.13431;
RA   Greither T., Dejung M., Behre H.M., Butter F., Herlyn H.;
RT   "The human sperm proteome-Toward a panel for male fertility testing.";
RL   Andrology 0:0-0(2023).
CC   -!- FUNCTION: Essential for normal spermatogenesis.
CC       {ECO:0000250|UniProtKB:Q5NC83}.
CC   -!- TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:29700843,
CC       ECO:0000269|PubMed:36896575}.
CC   -!- INDUCTION: Down-regulated expression in testicular samples of
CC       azoospermic men. {ECO:0000269|PubMed:36896575}.
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DR   EMBL; AC020743; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC034148; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH236955; EAL23902.1; -; Genomic_DNA.
DR   CCDS; CCDS47585.1; -.
DR   AlphaFoldDB; A4D263; -.
DR   IntAct; A4D263; 3.
DR   STRING; 9606.ENSP00000297001; -.
DR   iPTMnet; A4D263; -.
DR   PhosphoSitePlus; A4D263; -.
DR   BioMuta; SPATA48; -.
DR   MassIVE; A4D263; -.
DR   PaxDb; 9606-ENSP00000297001; -.
DR   PeptideAtlas; A4D263; -.
DR   ProteomicsDB; 640; -.
DR   Antibodypedia; 7345; 74 antibodies from 11 providers.
DR   Ensembl; ENST00000297001.7; ENSP00000297001.7; ENSG00000164500.7.
DR   MANE-Select; ENST00000297001.7; ENSP00000297001.7; NM_001161834.3; NP_001155306.3.
DR   UCSC; uc011kcj.3; human.
DR   AGR; HGNC:22564; -.
DR   GeneCards; SPMIP7; -.
DR   HGNC; HGNC:22564; SPMIP7.
DR   HPA; ENSG00000164500; Tissue enriched (testis).
DR   neXtProt; NX_A4D263; -.
DR   OpenTargets; ENSG00000164500; -.
DR   PharmGKB; PA165617678; -.
DR   VEuPathDB; HostDB:ENSG00000164500; -.
DR   eggNOG; ENOG502RYZE; Eukaryota.
DR   GeneTree; ENSGT00940000162844; -.
DR   HOGENOM; CLU_705862_0_0_1; -.
DR   InParanoid; A4D263; -.
DR   OMA; NRRWNSR; -.
DR   OrthoDB; 5400874at2759; -.
DR   PhylomeDB; A4D263; -.
DR   TreeFam; TF337635; -.
DR   PathwayCommons; A4D263; -.
DR   SignaLink; A4D263; -.
DR   ChiTaRS; C7orf72; human.
DR   Pharos; A4D263; Tdark.
DR   PRO; PR:A4D263; -.
DR   Proteomes; UP000005640; Chromosome 7.
DR   RNAct; A4D263; Protein.
DR   Bgee; ENSG00000164500; Expressed in left testis and 13 other cell types or tissues.
DR   GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR   GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR   InterPro; IPR027867; SPATA48.
DR   PANTHER; PTHR34759; SPERMATOGENESIS-ASSOCIATED PROTEIN 48; 1.
DR   PANTHER; PTHR34759:SF1; SPERMATOGENESIS-ASSOCIATED PROTEIN 48; 1.
DR   Pfam; PF15073; SPATA48; 1.
PE   1: Evidence at protein level;
KW   Differentiation; Reference proteome; Spermatogenesis.
FT   CHAIN           1..438
FT                   /note="Protein SPMIP7"
FT                   /id="PRO_0000331495"
FT   CONFLICT        268
FT                   /note="T -> A (in Ref. 2; EAL23902)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        358
FT                   /note="T -> I (in Ref. 2; EAL23902)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   438 AA;  49672 MW;  A3B9EB7CF50F615C CRC64;
     MDVEIQDTPG KISISKRSIL SGTVENIDYP HYCDLLRKMN MPFVKGLENR HNYGRFEKKC
     NPAFLKFHPY PPSVLPDYHL HDPYPPPYGP HYPLFPLRDD VTLGDSCSGF MSPGGDADLN
     PGIGRTIPTL VDFSDVKPQH RVPRPDTGFQ TTIKRQKILS EELQQNRRWN SREVPDISIR
     ARLGGWTSPL KVTPLQPHHE GRSLSHIFTF DEEATCTDEG EPLVQTNKKC NAKDSFYKSS
     TQKAYEDVPW DKMLPPKLVP EETTLEKTAD PISQCFTLKR YKGVPAITQM VGELWDRFQT
     RSFLAPVKPI NFVSSSSRSK YIPLYTGHVQ STNADDVDNP LGDIASLAKQ RYSKPLYTNT
     SRAANIPGYT GKVHFTATHP ANSNIPSTTP SPDSELHRVF QKEMAVDLFR HQAPLSRLVT
     TVRPYNPFNK KDKETIDY
//