Q9H0U9 (TSYL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Testis-specific Y-encoded-like protein 1
Short name=TSPY-like protein 1

Gene names

Name:	TSPYL1
Synonyms:	TSPYL

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	437 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Nucleus › nucleolus 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 component	Nucleus
Coding sequence diversity	Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	nucleosome assembly Inferred from electronic annotation. Source: InterPro
Cellular_component	cytoplasm Inferred from direct assay. Source: HPA nucleus Inferred from direct assay. Source: HPA
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 437	437	Testis-specific Y-encoded-like protein 1		PRO_0000185670
Natural variations
	Natural variant	62	1	P → S. Ref.1 Corresponds to variant rs3828743 [ dbSNP | Ensembl ].		VAR_016229
	Natural variant	74	1	A → P. Ref.1 Corresponds to variant rs3749895 [ dbSNP | Ensembl ].		VAR_016230
	Natural variant	181	1	A → T. Corresponds to variant rs3749894 [ dbSNP | Ensembl ].		VAR_046722
Experimental info
	Sequence conflict	174	1	E → EV in CAB66564. Ref.1
	Sequence conflict	174	1	E → EV in AAH48969. Ref.4
	Sequence conflict	420	1	R → C in AAC62384. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q9H0U9 [UniParc]. Last modified October 14, 2008. Version 3. Checksum: D651A6FAA7CF811F	FASTA	437	49,192
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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], MASS SPECTROMETRY. 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.
IPI	IPI00164215.
RefSeq	NP_003300.1. NM_003309.3.
UniGene	Hs.458358. Hs.741354.
3D structure databases
ProteinModelPortal	Q9H0U9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H0U9. 1 interaction.
STRING	9606.ENSP00000357597.
PTM databases
PhosphoSite	Q9H0U9.
Polymorphism databases
DMDM	209572711.
2D gel databases
SWISS-2DPAGE	Q9H0U9.
Proteomic databases
PaxDb	Q9H0U9.
PRIDE	Q9H0U9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000368608; ENSP00000357597; ENSG00000189241.
GeneID	7259.
KEGG	hsa:7259.
UCSC	uc003pwp.4. human.
Organism-specific databases
CTD	7259.
GeneCards	GC06M116601.
HGNC	HGNC:12382. TSPYL1.
HPA	HPA031971.
MIM	604714. gene. 608800. phenotype.
neXtProt	NX_Q9H0U9.
Orphanet	168593. Sudden infant death - dysgenesis of the testes.
PharmGKB	PA37050.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG264197.
HOVERGEN	HBG014779.
InParanoid	Q9H0U9.
KO	K11284.
OMA	WPLHEAL.
OrthoDB	EOG4933JV.
PhylomeDB	Q9H0U9.
Gene expression databases
Bgee	Q9H0U9.
CleanEx	HS_TSPYL1.
Genevestigator	Q9H0U9.
GermOnline	ENSG00000189241. Homo sapiens.
Family and domain databases
InterPro	IPR002164. NAP_family. [Graphical view]
PANTHER	PTHR11875. PTHR11875. 1 hit.
Pfam	PF00956. NAP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	7259.
NextBio	28381.
SOURCE	Search...

Entry information

Entry name

TSYL1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 98 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.