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Q9H0U9 (TSYL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 107. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Testis-specific Y-encoded-like protein 1

Short name=TSPY-like protein 1
Gene names
Name:TSPYL1
Synonyms:TSPYL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length437 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Nucleusnucleolus Ref.6.

Tissue specificity

Expressed in testis, ovary, liver, spleen, brain, kidney, prostate, lung, liver, and heart. Ref.5

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the nucleosome assembly protein (NAP) family.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processnucleosome assembly

Inferred from electronic annotation. Source: InterPro

   Cellular_componentnucleolus

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 437437Testis-specific Y-encoded-like protein 1
PRO_0000185670

Natural variations

Natural variant621P → S. Ref.1
Corresponds to variant rs3828743 [ dbSNP | Ensembl ].
VAR_016229
Natural variant741A → P. Ref.1
Corresponds to variant rs3749895 [ dbSNP | Ensembl ].
VAR_016230
Natural variant1811A → T.
Corresponds to variant rs3749894 [ dbSNP | Ensembl ].
VAR_046722

Experimental info

Sequence conflict1741E → EV in CAB66564. Ref.1
Sequence conflict1741E → EV in AAH48969. Ref.4
Sequence conflict4201R → C in AAC62384. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q9H0U9 [UniParc].

Last modified October 14, 2008. Version 3.
Checksum: D651A6FAA7CF811F

FASTA43749,192
        10         20         30         40         50         60 
MSGLDGVKRT TPLQTHSIII SDQVPSDQDA HQYLRLRDQS EATQVMAEPG EGGSETVALP 

        70         80         90        100        110        120 
PPPPSEEGGV PQDAAGRGGT PQIRVVGGRG HVAIKAGQEE GQPPAEGLAA ASVVMAADRS 

       130        140        150        160        170        180 
LKKGVQGGEK ALEICGAQRS ASELTAGAEA EAEEVKTGKC ATVSAAVAER ESAEVVKEGL 

       190        200        210        220        230        240 
AEKEVMEEQM EVEEQPPEGE EIEVAEEDRL EEEAREEEGP WPLHEALRMD PLEAIQLELD 

       250        260        270        280        290        300 
TVNAQADRAF QQLEHKFGRM RRHYLERRNY IIQNIPGFWM TAFRNHPQLS AMIRGQDAEM 

       310        320        330        340        350        360 
LRYITNLEVK ELRHPRTGCK FKFFFRRNPY FRNKLIVKEY EVRSSGRVVS LSTPIIWRRG 

       370        380        390        400        410        420 
HEPQSFIRRN QDLICSFFTW FSDHSLPESD KIAEIIKEDL WPNPLQYYLL REGVRRARRR 

       430 
PLREPVEIPR PFGFQSG 

« Hide

References

« Hide 'large scale' references
[1]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Functional proteomic analysis of human nucleolus."
Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C., Greco A., Hochstrasser D.F., Diaz J.-J.
Mol. Biol. Cell 13:4100-4109(2002) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_003300.1. NM_003309.3.
UniGeneHs.458358.
Hs.744978.

3D structure databases

ProteinModelPortalQ9H0U9.
SMRQ9H0U9. Positions 229-410.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113110. 9 interactions.
IntActQ9H0U9. 3 interactions.
MINTMINT-4719042.
STRING9606.ENSP00000357597.

PTM databases

PhosphoSiteQ9H0U9.

Polymorphism databases

DMDM209572711.

2D gel databases

SWISS-2DPAGEQ9H0U9.

Proteomic databases

PaxDbQ9H0U9.
PRIDEQ9H0U9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000368608; ENSP00000357597; ENSG00000189241.
GeneID7259.
KEGGhsa:7259.
UCSCuc003pwp.4. human.

Organism-specific databases

CTD7259.
GeneCardsGC06M116601.
HGNCHGNC:12382. TSPYL1.
HPAHPA031971.
MIM604714. gene.
608800. phenotype.
neXtProtNX_Q9H0U9.
Orphanet168593. Sudden infant death - dysgenesis of the testes.
PharmGKBPA37050.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG264197.
HOVERGENHBG014779.
InParanoidQ9H0U9.
KOK11284.
OMAHEALRMD.
OrthoDBEOG76MK8K.
PhylomeDBQ9H0U9.
TreeFamTF313386.

Gene expression databases

BgeeQ9H0U9.
CleanExHS_TSPYL1.
GenevestigatorQ9H0U9.

Family and domain databases

InterProIPR002164. NAP_family.
[Graphical view]
PANTHERPTHR11875. PTHR11875. 1 hit.
PfamPF00956. NAP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTSPYL1.
GenomeRNAi7259.
NextBio28381.
PROQ9H0U9.
SOURCESearch...

Entry information

Entry nameTSYL1_HUMAN
AccessionPrimary (citable) accession number: Q9H0U9
Secondary accession number(s): O75885, Q5TFE6
Entry history
Integrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: October 14, 2008
Last modified: April 16, 2014
This is version 107 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM