SPT48_MOUSE
ID SPT48_MOUSE Reviewed; 441 AA.
AC Q5NC83; Q9D5M8;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 29-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 87.
DE RecName: Full=Spermatogenesis-associated protein 48;
DE AltName: Full=Post-meiotic spermatogenesis protein 1 {ECO:0000303|PubMed:22110678};
GN Name=Spata48 {ECO:0000312|MGI:MGI:1921112};
GN Synonyms=Pms1 {ECO:0000303|PubMed:22110678};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=22110678; DOI=10.1371/journal.pone.0027582;
RA L'Hote D., Vatin M., Auer J., Castille J., Passet B., Montagutelli X.,
RA Serres C., Vaiman D.;
RT "Fidgetin-like1 is a strong candidate for a dynamic impairment of male
RT meiosis leading to reduced testis weight in mice.";
RL PLoS ONE 6:E27582-E27582(2011).
RN [4]
RP FUNCTION, DISRUPTION PHENOTYPE, TISSUE SPECIFICITY, AND DEVELOPMENTAL
RP STAGE.
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:0000269|PubMed:29700843}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5NC83-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5NC83-2; Sequence=VSP_033234;
CC -!- TISSUE SPECIFICITY: Testis specific. Expressed at the spermatid stage.
CC {ECO:0000269|PubMed:22110678, ECO:0000269|PubMed:29700843}.
CC -!- DEVELOPMENTAL STAGE: Undetectable until 20 days post partum (dpp), and
CC becomes detectable only after 22-30 dpp (PubMed:22110678). Expressed
CC after postnatal day 15 and expression gradually increases with age
CC (PubMed:29700843). {ECO:0000269|PubMed:22110678,
CC ECO:0000269|PubMed:29700843}.
CC -!- DISRUPTION PHENOTYPE: Mice have smaller testis and show impaired
CC spermatogenesis. {ECO:0000269|PubMed:29700843}.
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DR EMBL; AK015144; BAB29723.1; -; mRNA.
DR EMBL; AL662805; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS48752.1; -. [Q5NC83-2]
DR RefSeq; NP_082945.1; NM_028669.1. [Q5NC83-2]
DR AlphaFoldDB; Q5NC83; -.
DR STRING; 10090.ENSMUSP00000105300; -.
DR iPTMnet; Q5NC83; -.
DR PhosphoSitePlus; Q5NC83; -.
DR PaxDb; Q5NC83; -.
DR PRIDE; Q5NC83; -.
DR ProteomicsDB; 254546; -. [Q5NC83-1]
DR ProteomicsDB; 254547; -. [Q5NC83-2]
DR Antibodypedia; 7345; 61 antibodies from 11 providers.
DR Ensembl; ENSMUST00000109678; ENSMUSP00000105300; ENSMUSG00000020191. [Q5NC83-2]
DR GeneID; 73862; -.
DR KEGG; mmu:73862; -.
DR UCSC; uc007iaf.1; mouse. [Q5NC83-2]
DR CTD; 100130988; -.
DR MGI; MGI:1921112; Spata48.
DR VEuPathDB; HostDB:ENSMUSG00000020191; -.
DR eggNOG; ENOG502RYZE; Eukaryota.
DR GeneTree; ENSGT00940000162844; -.
DR HOGENOM; CLU_146801_0_0_1; -.
DR InParanoid; Q5NC83; -.
DR OMA; WNSREVP; -.
DR PhylomeDB; Q5NC83; -.
DR TreeFam; TF337635; -.
DR BioGRID-ORCS; 73862; 1 hit in 71 CRISPR screens.
DR ChiTaRS; Pms1; mouse.
DR PRO; PR:Q5NC83; -.
DR Proteomes; UP000000589; Chromosome 11.
DR RNAct; Q5NC83; protein.
DR Bgee; ENSMUSG00000020191; Expressed in seminiferous tubule of testis and 42 other tissues.
DR ExpressionAtlas; Q5NC83; baseline and differential.
DR Genevisible; Q5NC83; MM.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007283; P:spermatogenesis; IMP:UniProtKB.
DR InterPro; IPR027867; SPATA48.
DR PANTHER; PTHR34759; PTHR34759; 1.
DR Pfam; PF15073; SPATA48; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Differentiation; Reference proteome; Spermatogenesis.
FT CHAIN 1..441
FT /note="Spermatogenesis-associated protein 48"
FT /id="PRO_0000331496"
FT VAR_SEQ 1..292
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_033234"
FT CONFLICT 407
FT /note="M -> V (in Ref. 1; BAB29723)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 441 AA; 50400 MW; D2A76F7FCD0AFEA0 CRC64;
MDMEVKTMPG KISIPRRFIF SEGKAIEHPD YPHYSNLLQK MNMPSVKGLE DRHNCVRFEK
KCNPTFLKFH PYPPSVLPDY HLHYPYPPPY GRAYPLAPLR DDVPLGDPCS GFMSPGGDAN
LKPNIGRAIP NLVSFHDVKP QNRVPRPDKG FQTTIKRQTI LAEELKQDRR WNSRKVPDIS
IKAKLGGWTS PMKVVPVPVH EHEVGTLSRI YTFDEEAIST DDSEPLVQLD KKYNIKDSFY
KSSTQKAYED VPWDKMLPPK LDPEETTVEK AADHISQCFS LKRYERLPAI TQMVGGLWDR
FQTRLFSAPA KPINFVSPST RSKYIPLYTG HVQSTDADNV DNPYGDIKSV ASPRHSKLQY
TNSSRSANIP GYTGKVHFTA THPTNSNIPS REPSADSEMN RLLLQEMRVD RFRHQGPMSQ
MVTTVKPYNP FNKKEKETLE Y
