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Q9H0U9

- TSYL1_HUMAN

UniProt

Q9H0U9 - TSYL1_HUMAN

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Protein

Testis-specific Y-encoded-like protein 1

Gene

TSPYL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. enzyme binding Source: UniProt

GO - Biological processi

  1. nucleosome assembly Source: InterPro
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Testis-specific Y-encoded-like protein 1
Short name:
TSPY-like protein 1
Gene namesi
Name:TSPYL1
Synonyms:TSPYL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:12382. TSPYL1.

Subcellular locationi

Nucleusnucleolus 1 Publication

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Sudden infant death with dysgenesis of the testes syndrome (SIDDT) [MIM:608800]: Autosomal recessive disorder. Affected infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. Features included bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns during sleep. Genotypic males with SIDDT had fetal testicular dysgenesis and ambiguous genitalia, with findings such as intraabdominal testes, dysplastic testes, deficient fetal testosterone production, fusion and rugation of the gonadal sac, and partial development of the penile shaft. Female sexual development was normal. Affected infants had an unusual staccato cry, similar to the cry of a goat.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Organism-specific databases

MIMi608800. phenotype.
Orphaneti168593. Sudden infant death - dysgenesis of the testes.
PharmGKBiPA37050.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 437437Testis-specific Y-encoded-like protein 1PRO_0000185670Add
BLAST

Proteomic databases

MaxQBiQ9H0U9.
PaxDbiQ9H0U9.
PRIDEiQ9H0U9.

2D gel databases

SWISS-2DPAGEQ9H0U9.

PTM databases

PhosphoSiteiQ9H0U9.

Expressioni

Tissue specificityi

Expressed in testis, ovary, liver, spleen, brain, kidney, prostate, lung, liver, and heart.1 Publication

Gene expression databases

BgeeiQ9H0U9.
CleanExiHS_TSPYL1.
GenevestigatoriQ9H0U9.

Organism-specific databases

HPAiHPA031971.

Interactioni

Protein-protein interaction databases

BioGridi113110. 10 interactions.
IntActiQ9H0U9. 3 interactions.
MINTiMINT-4719042.
STRINGi9606.ENSP00000357597.

Structurei

3D structure databases

ProteinModelPortaliQ9H0U9.
SMRiQ9H0U9. Positions 229-410.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG264197.
GeneTreeiENSGT00530000062882.
HOVERGENiHBG014779.
InParanoidiQ9H0U9.
KOiK11284.
OMAiRRNQDVV.
OrthoDBiEOG76MK8K.
PhylomeDBiQ9H0U9.
TreeFamiTF313386.

Family and domain databases

InterProiIPR002164. NAP_family.
[Graphical view]
PANTHERiPTHR11875. PTHR11875. 1 hit.
PfamiPF00956. NAP. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9H0U9-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MSGLDGVKRT TPLQTHSIII SDQVPSDQDA HQYLRLRDQS EATQVMAEPG
60 70 80 90 100
EGGSETVALP PPPPSEEGGV PQDAAGRGGT PQIRVVGGRG HVAIKAGQEE
110 120 130 140 150
GQPPAEGLAA ASVVMAADRS LKKGVQGGEK ALEICGAQRS ASELTAGAEA
160 170 180 190 200
EAEEVKTGKC ATVSAAVAER ESAEVVKEGL AEKEVMEEQM EVEEQPPEGE
210 220 230 240 250
EIEVAEEDRL EEEAREEEGP WPLHEALRMD PLEAIQLELD TVNAQADRAF
260 270 280 290 300
QQLEHKFGRM RRHYLERRNY IIQNIPGFWM TAFRNHPQLS AMIRGQDAEM
310 320 330 340 350
LRYITNLEVK ELRHPRTGCK FKFFFRRNPY FRNKLIVKEY EVRSSGRVVS
360 370 380 390 400
LSTPIIWRRG HEPQSFIRRN QDLICSFFTW FSDHSLPESD KIAEIIKEDL
410 420 430
WPNPLQYYLL REGVRRARRR PLREPVEIPR PFGFQSG
Length:437
Mass (Da):49,192
Last modified:October 14, 2008 - v3
Checksum:iD651A6FAA7CF811F
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti174 – 1741E → EV in CAB66564. (PubMed:11230166)Curated
Sequence conflicti174 – 1741E → EV in AAH48969. (PubMed:15489334)Curated
Sequence conflicti420 – 4201R → C in AAC62384. (PubMed:9730615)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti62 – 621P → S.1 Publication
Corresponds to variant rs3828743 [ dbSNP | Ensembl ].
VAR_016229
Natural varianti74 – 741A → P.1 Publication
Corresponds to variant rs3749895 [ dbSNP | Ensembl ].
VAR_016230
Natural varianti181 – 1811A → T.
Corresponds to variant rs3749894 [ dbSNP | Ensembl ].
VAR_046722

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL136629 mRNA. Translation: CAB66564.1.
AL050331 Genomic DNA. Translation: CAB55883.1.
CH471051 Genomic DNA. Translation: EAW48232.1.
BC048969 mRNA. Translation: AAH48969.1.
AF042181 mRNA. Translation: AAC62384.1.
CCDSiCCDS34518.1.
RefSeqiNP_003300.1. NM_003309.3.
UniGeneiHs.458358.
Hs.744978.

Genome annotation databases

EnsembliENST00000368608; ENSP00000357597; ENSG00000189241.
GeneIDi7259.
KEGGihsa:7259.
UCSCiuc003pwp.4. human.

Polymorphism databases

DMDMi209572711.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL136629 mRNA. Translation: CAB66564.1 .
AL050331 Genomic DNA. Translation: CAB55883.1 .
CH471051 Genomic DNA. Translation: EAW48232.1 .
BC048969 mRNA. Translation: AAH48969.1 .
AF042181 mRNA. Translation: AAC62384.1 .
CCDSi CCDS34518.1.
RefSeqi NP_003300.1. NM_003309.3.
UniGenei Hs.458358.
Hs.744978.

3D structure databases

ProteinModelPortali Q9H0U9.
SMRi Q9H0U9. Positions 229-410.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113110. 10 interactions.
IntActi Q9H0U9. 3 interactions.
MINTi MINT-4719042.
STRINGi 9606.ENSP00000357597.

PTM databases

PhosphoSitei Q9H0U9.

Polymorphism databases

DMDMi 209572711.

2D gel databases

SWISS-2DPAGE Q9H0U9.

Proteomic databases

MaxQBi Q9H0U9.
PaxDbi Q9H0U9.
PRIDEi Q9H0U9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000368608 ; ENSP00000357597 ; ENSG00000189241 .
GeneIDi 7259.
KEGGi hsa:7259.
UCSCi uc003pwp.4. human.

Organism-specific databases

CTDi 7259.
GeneCardsi GC06M116601.
HGNCi HGNC:12382. TSPYL1.
HPAi HPA031971.
MIMi 604714. gene.
608800. phenotype.
neXtProti NX_Q9H0U9.
Orphaneti 168593. Sudden infant death - dysgenesis of the testes.
PharmGKBi PA37050.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG264197.
GeneTreei ENSGT00530000062882.
HOVERGENi HBG014779.
InParanoidi Q9H0U9.
KOi K11284.
OMAi RRNQDVV.
OrthoDBi EOG76MK8K.
PhylomeDBi Q9H0U9.
TreeFami TF313386.

Miscellaneous databases

GeneWikii TSPYL1.
GenomeRNAii 7259.
NextBioi 28381.
PROi Q9H0U9.
SOURCEi Search...

Gene expression databases

Bgeei Q9H0U9.
CleanExi HS_TSPYL1.
Genevestigatori Q9H0U9.

Family and domain databases

InterProi IPR002164. NAP_family.
[Graphical view ]
PANTHERi PTHR11875. PTHR11875. 1 hit.
Pfami PF00956. NAP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS SER-62 AND PRO-74.
    Tissue: Fetal brain.
  2. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  5. "Murine and human TSPYL genes: novel members of the TSPY-SET-NAP1L1 family."
    Vogel T., Dittrich O., Mehraein Y., Dechend F., Schnieders F., Schmidtke J.
    Cytogenet. Cell Genet. 81:265-270(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 365-437, TISSUE SPECIFICITY.
  6. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function."
    Puffenberger E.G., Hu-Lince D., Parod J.M., Craig D.W., Dobrin S.E., Conway A.R., Donarum E.A., Strauss K.A., Dunckley T., Cardenas J.F., Melmed K.R., Wright C.A., Liang W., Stafford P., Flynn C.R., Morton D.H., Stephan D.A.
    Proc. Natl. Acad. Sci. U.S.A. 101:11689-11694(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SIDDT.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiTSYL1_HUMAN
AccessioniPrimary (citable) accession number: Q9H0U9
Secondary accession number(s): O75885, Q5TFE6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: October 14, 2008
Last modified: October 29, 2014
This is version 112 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3