TSYL1_HUMAN
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 03-AUG-2022, entry version 166.
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}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
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; 153.
DR IntAct; Q9H0U9; 42.
DR MINT; Q9H0U9; -.
DR STRING; 9606.ENSP00000357597; -.
DR iPTMnet; Q9H0U9; -.
DR PhosphoSitePlus; Q9H0U9; -.
DR BioMuta; TSPYL1; -.
DR DMDM; 209572711; -.
DR SWISS-2DPAGE; Q9H0U9; -.
DR EPD; Q9H0U9; -.
DR jPOST; Q9H0U9; -.
DR MassIVE; Q9H0U9; -.
DR MaxQB; Q9H0U9; -.
DR PaxDb; Q9H0U9; -.
DR PeptideAtlas; Q9H0U9; -.
DR PRIDE; Q9H0U9; -.
DR ProteomicsDB; 80327; -.
DR Antibodypedia; 32489; 147 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 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; 1191764at2759; -.
DR PhylomeDB; Q9H0U9; -.
DR TreeFam; TF313386; -.
DR PathwayCommons; Q9H0U9; -.
DR SignaLink; Q9H0U9; -.
DR BioGRID-ORCS; 7259; 26 hits in 1081 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 208 other tissues.
DR Genevisible; Q9H0U9; HS.
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 InterPro; IPR037231; NAP-like_sf.
DR InterPro; IPR002164; NAP_family.
DR PANTHER; PTHR11875; PTHR11875; 1.
DR Pfam; PF00956; NAP; 1.
DR SUPFAM; SSF143113; SSF143113; 1.
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
