ID   TSYL1_HUMAN             Reviewed;         437 AA.
AC   Q9H0U9; O75885; Q5TFE6;
DT   15-AUG-2003, integrated into UniProtKB/Swiss-Prot.
DT   14-OCT-2008, sequence version 3.
DT   24-JAN-2024, entry version 174.
DE   RecName: Full=Testis-specific Y-encoded-like protein 1;
DE            Short=TSPY-like protein 1;
GN   Name=TSPYL1; Synonyms=TSPYL;
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], AND VARIANTS SER-62 AND PRO-74.
RC   TISSUE=Fetal brain;
RX   PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA   Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA   Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA   Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA   Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA   Klein M., Poustka A.;
RT   "Towards a catalog of human genes and proteins: sequencing and analysis of
RT   500 novel complete protein coding human cDNAs.";
RL   Genome Res. 11:422-435(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=14574404; DOI=10.1038/nature02055;
RA   Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA   Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA   Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA   Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA   Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA   Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA   Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA   Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA   Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA   French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA   Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA   Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA   Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA   Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA   Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA   Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA   Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA   Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA   Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA   Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA   Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA   Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA   Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA   Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA   Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA   West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA   Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA   Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA   Rogers J., Beck S.;
RT   "The DNA sequence and analysis of human chromosome 6.";
RL   Nature 425:805-811(2003).
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].
RC   TISSUE=Testis;
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   [5]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 365-437, AND TISSUE SPECIFICITY.
RX   PubMed=9730615; DOI=10.1159/000015042;
RA   Vogel T., Dittrich O., Mehraein Y., Dechend F., Schnieders F.,
RA   Schmidtke J.;
RT   "Murine and human TSPYL genes: novel members of the TSPY-SET-NAP1L1
RT   family.";
RL   Cytogenet. Cell Genet. 81:265-270(1998).
RN   [6]
RP   SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=12429849; DOI=10.1091/mbc.e02-05-0271;
RA   Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C.,
RA   Greco A., Hochstrasser D.F., Diaz J.-J.;
RT   "Functional proteomic analysis of human nucleolus.";
RL   Mol. Biol. Cell 13:4100-4109(2002).
RN   [7]
RP   INVOLVEMENT IN SIDDT.
RX   PubMed=15273283; DOI=10.1073/pnas.0401194101;
RA   Puffenberger E.G., Hu-Lince D., Parod J.M., Craig D.W., Dobrin S.E.,
RA   Conway A.R., Donarum E.A., Strauss K.A., Dunckley T., Cardenas J.F.,
RA   Melmed K.R., Wright C.A., Liang W., Stafford P., Flynn C.R., Morton D.H.,
RA   Stephan D.A.;
RT   "Mapping of sudden infant death with dysgenesis of the testes syndrome
RT   (SIDDT) by a SNP genome scan and identification of TSPYL loss of
RT   function.";
RL   Proc. Natl. Acad. Sci. U.S.A. 101:11689-11694(2004).
RN   [8]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA   Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA   Bennett K.L., Superti-Furga G., Colinge J.;
RT   "Initial characterization of the human central proteome.";
RL   BMC Syst. Biol. 5:17-17(2011).
RN   [9]
RP   SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-156, AND IDENTIFICATION BY MASS
RP   SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=28112733; DOI=10.1038/nsmb.3366;
RA   Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA   Nielsen M.L.;
RT   "Site-specific mapping of the human SUMO proteome reveals co-modification
RT   with phosphorylation.";
RL   Nat. Struct. Mol. Biol. 24:325-336(2017).
RN   [10]
RP   UBIQUITINATION.
RX   PubMed=29779948; DOI=10.1016/j.cell.2018.04.028;
RA   Koren I., Timms R.T., Kula T., Xu Q., Li M.Z., Elledge S.J.;
RT   "The eukaryotic proteome is shaped by E3 ubiquitin ligases targeting C-
RT   terminal degrons.";
RL   Cell 173:1622-1635(2018).
CC   -!- SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
CC   -!- TISSUE SPECIFICITY: Expressed in testis, ovary, liver, spleen, brain,
CC       kidney, prostate, lung, liver, and heart. {ECO:0000269|PubMed:9730615}.
CC   -!- PTM: Ubiquitinated by the CRL2(APPBP2) complex, which recognizes the
CC       Arg-Xaa-Xaa-Gly sequence at the C-terminus, leading to its degradation.
CC       {ECO:0000269|PubMed:29779948}.
CC   -!- DISEASE: Sudden infant death with dysgenesis of the testes syndrome
CC       (SIDDT) [MIM:608800]: Autosomal recessive disorder. Affected infants
CC       appear normal at birth, develop signs of visceroautonomic dysfunction
CC       early in life, and die before 12 months of age of abrupt
CC       cardiorespiratory arrest. Features included bradycardia, hypothermia,
CC       severe gastroesophageal reflux, laryngospasm, bronchospasm, and
CC       abnormal cardiorespiratory patterns during sleep. Genotypic males with
CC       SIDDT had fetal testicular dysgenesis and ambiguous genitalia, with
CC       findings such as intraabdominal testes, dysplastic testes, deficient
CC       fetal testosterone production, fusion and rugation of the gonadal sac,
CC       and partial development of the penile shaft. Female sexual development
CC       was normal. Affected infants had an unusual staccato cry, similar to
CC       the cry of a goat. {ECO:0000269|PubMed:15273283}. Note=The disease is
CC       caused by variants affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the nucleosome assembly protein (NAP) family.
CC       {ECO:0000305}.
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DR   EMBL; AL136629; CAB66564.1; -; mRNA.
DR   EMBL; AL050331; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471051; EAW48232.1; -; Genomic_DNA.
DR   EMBL; BC048969; AAH48969.1; -; mRNA.
DR   EMBL; AF042181; AAC62384.1; -; mRNA.
DR   CCDS; CCDS34518.1; -.
DR   RefSeq; NP_003300.1; NM_003309.3.
DR   AlphaFoldDB; Q9H0U9; -.
DR   SMR; Q9H0U9; -.
DR   BioGRID; 113110; 164.
DR   IntAct; Q9H0U9; 42.
DR   MINT; Q9H0U9; -.
DR   STRING; 9606.ENSP00000357597; -.
DR   iPTMnet; Q9H0U9; -.
DR   PhosphoSitePlus; Q9H0U9; -.
DR   BioMuta; TSPYL1; -.
DR   DMDM; 209572711; -.
DR   EPD; Q9H0U9; -.
DR   jPOST; Q9H0U9; -.
DR   MassIVE; Q9H0U9; -.
DR   MaxQB; Q9H0U9; -.
DR   PaxDb; 9606-ENSP00000357597; -.
DR   PeptideAtlas; Q9H0U9; -.
DR   ProteomicsDB; 80327; -.
DR   Pumba; Q9H0U9; -.
DR   Antibodypedia; 32489; 168 antibodies from 26 providers.
DR   DNASU; 7259; -.
DR   Ensembl; ENST00000368608.4; ENSP00000357597.4; ENSG00000189241.8.
DR   Ensembl; ENST00000652202.1; ENSP00000498597.1; ENSG00000189241.8.
DR   GeneID; 7259; -.
DR   KEGG; hsa:7259; -.
DR   MANE-Select; ENST00000368608.4; ENSP00000357597.4; NM_003309.4; NP_003300.1.
DR   UCSC; uc003pwp.5; human.
DR   AGR; HGNC:12382; -.
DR   CTD; 7259; -.
DR   DisGeNET; 7259; -.
DR   GeneCards; TSPYL1; -.
DR   HGNC; HGNC:12382; TSPYL1.
DR   HPA; ENSG00000189241; Low tissue specificity.
DR   MalaCards; TSPYL1; -.
DR   MIM; 604714; gene.
DR   MIM; 608800; phenotype.
DR   neXtProt; NX_Q9H0U9; -.
DR   OpenTargets; ENSG00000189241; -.
DR   Orphanet; 168593; Sudden infant death-dysgenesis of the testes syndrome.
DR   PharmGKB; PA37050; -.
DR   VEuPathDB; HostDB:ENSG00000189241; -.
DR   eggNOG; KOG1508; Eukaryota.
DR   GeneTree; ENSGT00940000162821; -.
DR   HOGENOM; CLU_051687_2_0_1; -.
DR   InParanoid; Q9H0U9; -.
DR   OMA; MDLRMNP; -.
DR   OrthoDB; 5318522at2759; -.
DR   PhylomeDB; Q9H0U9; -.
DR   TreeFam; TF313386; -.
DR   PathwayCommons; Q9H0U9; -.
DR   SignaLink; Q9H0U9; -.
DR   BioGRID-ORCS; 7259; 26 hits in 1159 CRISPR screens.
DR   ChiTaRS; TSPYL1; human.
DR   GeneWiki; TSPYL1; -.
DR   GenomeRNAi; 7259; -.
DR   Pharos; Q9H0U9; Tbio.
DR   PRO; PR:Q9H0U9; -.
DR   Proteomes; UP000005640; Chromosome 6.
DR   RNAct; Q9H0U9; Protein.
DR   Bgee; ENSG00000189241; Expressed in germinal epithelium of ovary and 210 other cell types or tissues.
DR   GO; GO:0000785; C:chromatin; IBA:GO_Central.
DR   GO; GO:0005730; C:nucleolus; IDA:HPA.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0003682; F:chromatin binding; IBA:GO_Central.
DR   GO; GO:0019899; F:enzyme binding; IPI:UniProtKB.
DR   GO; GO:0042393; F:histone binding; IBA:GO_Central.
DR   GO; GO:0006334; P:nucleosome assembly; IEA:InterPro.
DR   Gene3D; 1.20.5.1500; -; 1.
DR   Gene3D; 3.30.1120.90; Nucleosome assembly protein; 1.
DR   InterPro; IPR037231; NAP-like_sf.
DR   InterPro; IPR002164; NAP_family.
DR   PANTHER; PTHR11875; TESTIS-SPECIFIC Y-ENCODED PROTEIN; 1.
DR   PANTHER; PTHR11875:SF64; TESTIS-SPECIFIC Y-ENCODED-LIKE PROTEIN 1; 1.
DR   Pfam; PF00956; NAP; 1.
DR   SUPFAM; SSF143113; NAP-like; 1.
DR   SWISS-2DPAGE; Q9H0U9; -.
DR   Genevisible; Q9H0U9; HS.
PE   1: Evidence at protein level;
KW   Isopeptide bond; Nucleus; Reference proteome; Ubl conjugation.
FT   CHAIN           1..437
FT                   /note="Testis-specific Y-encoded-like protein 1"
FT                   /id="PRO_0000185670"
FT   REGION          1..81
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        7..28
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   CROSSLNK        156
FT                   /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT                   G-Cter in SUMO2)"
FT                   /evidence="ECO:0007744|PubMed:28112733"
FT   VARIANT         62
FT                   /note="P -> S (in dbSNP:rs3828743)"
FT                   /evidence="ECO:0000269|PubMed:11230166"
FT                   /id="VAR_016229"
FT   VARIANT         74
FT                   /note="A -> P (in dbSNP:rs3749895)"
FT                   /evidence="ECO:0000269|PubMed:11230166"
FT                   /id="VAR_016230"
FT   VARIANT         181
FT                   /note="A -> T (in dbSNP:rs3749894)"
FT                   /id="VAR_046722"
FT   CONFLICT        174
FT                   /note="E -> EV (in Ref. 1; CAB66564 and 4; AAH48969)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        420
FT                   /note="R -> C (in Ref. 5; AAC62384)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   437 AA;  49192 MW;  D651A6FAA7CF811F CRC64;
     MSGLDGVKRT TPLQTHSIII SDQVPSDQDA HQYLRLRDQS EATQVMAEPG EGGSETVALP
     PPPPSEEGGV PQDAAGRGGT PQIRVVGGRG HVAIKAGQEE GQPPAEGLAA ASVVMAADRS
     LKKGVQGGEK ALEICGAQRS ASELTAGAEA EAEEVKTGKC ATVSAAVAER ESAEVVKEGL
     AEKEVMEEQM EVEEQPPEGE EIEVAEEDRL EEEAREEEGP WPLHEALRMD PLEAIQLELD
     TVNAQADRAF QQLEHKFGRM RRHYLERRNY IIQNIPGFWM TAFRNHPQLS AMIRGQDAEM
     LRYITNLEVK ELRHPRTGCK FKFFFRRNPY FRNKLIVKEY EVRSSGRVVS LSTPIIWRRG
     HEPQSFIRRN QDLICSFFTW FSDHSLPESD KIAEIIKEDL WPNPLQYYLL REGVRRARRR
     PLREPVEIPR PFGFQSG
//