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Protein

Testis-specific Y-encoded-like protein 1

Gene

TSPYL1

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

Functioni

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

GO - Biological processi

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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000189241.6
HGNCiHGNC:12382 TSPYL1
MIMi604714 gene
neXtProtiNX_Q9H0U9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Sudden infant death with dysgenesis of the testes syndrome (SIDDT)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal 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.
See also OMIM:608800

Organism-specific databases

DisGeNETi7259
MalaCardsiTSPYL1
MIMi608800 phenotype
OpenTargetsiENSG00000189241
Orphaneti168593 Sudden infant death-dysgenesis of the testes syndrome
PharmGKBiPA37050

Polymorphism and mutation databases

BioMutaiTSPYL1
DMDMi209572711

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001856701 – 437Testis-specific Y-encoded-like protein 1Add BLAST437

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki156Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ9H0U9
MaxQBiQ9H0U9
PaxDbiQ9H0U9
PeptideAtlasiQ9H0U9
PRIDEiQ9H0U9
ProteomicsDBi80327

2D gel databases

SWISS-2DPAGEiQ9H0U9

PTM databases

iPTMnetiQ9H0U9
PhosphoSitePlusiQ9H0U9

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000189241 Expressed in 245 organ(s), highest expression level in brain
CleanExiHS_TSPYL1
GenevisibleiQ9H0U9 HS

Organism-specific databases

HPAiHPA031970
HPA031971

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113110, 39 interactors
IntActiQ9H0U9, 9 interactors
STRINGi9606.ENSP00000357597

Structurei

3D structure databases

ProteinModelPortaliQ9H0U9
SMRiQ9H0U9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1508 Eukaryota
ENOG410XQRX LUCA
GeneTreeiENSGT00530000062882
HOVERGENiHBG014779
InParanoidiQ9H0U9
KOiK11284
OMAiHEALRMD
OrthoDBiEOG091G00YT
PhylomeDBiQ9H0U9
TreeFamiTF313386

Family and domain databases

InterProiView protein in InterPro
IPR037231 NAP-like_sf
IPR002164 NAP_family
PANTHERiPTHR11875 PTHR11875, 1 hit
PfamiView protein in Pfam
PF00956 NAP, 1 hit
SUPFAMiSSF143113 SSF143113, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti174E → EV in CAB66564 (PubMed:11230166).Curated1
Sequence conflicti174E → EV in AAH48969 (PubMed:15489334).Curated1
Sequence conflicti420R → C in AAC62384 (PubMed:9730615).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01622962P → S1 PublicationCorresponds to variant dbSNP:rs3828743Ensembl.1
Natural variantiVAR_01623074A → P1 PublicationCorresponds to variant dbSNP:rs3749895Ensembl.1
Natural variantiVAR_046722181A → T. Corresponds to variant dbSNP:rs3749894Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136629 mRNA Translation: CAB66564.1
AL050331 Genomic DNA No translation available.
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.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136629 mRNA Translation: CAB66564.1
AL050331 Genomic DNA No translation available.
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

3D structure databases

ProteinModelPortaliQ9H0U9
SMRiQ9H0U9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113110, 39 interactors
IntActiQ9H0U9, 9 interactors
STRINGi9606.ENSP00000357597

PTM databases

iPTMnetiQ9H0U9
PhosphoSitePlusiQ9H0U9

Polymorphism and mutation databases

BioMutaiTSPYL1
DMDMi209572711

2D gel databases

SWISS-2DPAGEiQ9H0U9

Proteomic databases

EPDiQ9H0U9
MaxQBiQ9H0U9
PaxDbiQ9H0U9
PeptideAtlasiQ9H0U9
PRIDEiQ9H0U9
ProteomicsDBi80327

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368608; ENSP00000357597; ENSG00000189241
GeneIDi7259
KEGGihsa:7259
UCSCiuc003pwp.5 human

Organism-specific databases

CTDi7259
DisGeNETi7259
EuPathDBiHostDB:ENSG00000189241.6
GeneCardsiTSPYL1
HGNCiHGNC:12382 TSPYL1
HPAiHPA031970
HPA031971
MalaCardsiTSPYL1
MIMi604714 gene
608800 phenotype
neXtProtiNX_Q9H0U9
OpenTargetsiENSG00000189241
Orphaneti168593 Sudden infant death-dysgenesis of the testes syndrome
PharmGKBiPA37050
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1508 Eukaryota
ENOG410XQRX LUCA
GeneTreeiENSGT00530000062882
HOVERGENiHBG014779
InParanoidiQ9H0U9
KOiK11284
OMAiHEALRMD
OrthoDBiEOG091G00YT
PhylomeDBiQ9H0U9
TreeFamiTF313386

Miscellaneous databases

GeneWikiiTSPYL1
GenomeRNAii7259
PROiPR:Q9H0U9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000189241 Expressed in 245 organ(s), highest expression level in brain
CleanExiHS_TSPYL1
GenevisibleiQ9H0U9 HS

Family and domain databases

InterProiView protein in InterPro
IPR037231 NAP-like_sf
IPR002164 NAP_family
PANTHERiPTHR11875 PTHR11875, 1 hit
PfamiView protein in Pfam
PF00956 NAP, 1 hit
SUPFAMiSSF143113 SSF143113, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTSYL1_HUMAN
AccessioniPrimary (citable) accession number: Q9H0U9
Secondary accession number(s): O75885, Q5TFE6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: October 14, 2008
Last modified: November 7, 2018
This is version 143 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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