SPT48_HUMAN
ID SPT48_HUMAN Reviewed; 438 AA.
AC A4D263; A6NDX9;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 2.
DT 03-AUG-2022, entry version 84.
DE RecName: Full=Spermatogenesis-associated protein 48 {ECO:0000312|HGNC:HGNC:22564};
GN Name=SPATA48 {ECO:0000312|HGNC:HGNC:22564}; Synonyms=C7orf72;
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).
CC -!- FUNCTION: Essential for normal spermatogenesis.
CC {ECO:0000250|UniProtKB:Q5NC83}.
CC -!- TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:29700843}.
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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; A4D263; -.
DR PeptideAtlas; A4D263; -.
DR PRIDE; A4D263; -.
DR Antibodypedia; 7345; 61 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 GeneCards; SPATA48; -.
DR HGNC; HGNC:22564; SPATA48.
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; WNSREVP; -.
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 12 other 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; PTHR34759; 1.
DR Pfam; PF15073; SPATA48; 1.
PE 2: Evidence at transcript level;
KW Differentiation; Reference proteome; Spermatogenesis.
FT CHAIN 1..438
FT /note="Spermatogenesis-associated protein 48"
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
