• Gene id: 22822

Gene Summary

• Gene Symbol: PHLDA1   Gene   UCSC   Ensembl
• Aliases: DT1P1B11, PHRIP, TDAG51
• Gene name: pleckstrin homology like domain family A member 1
• Alternate names: pleckstrin homology-like domain family A member 1, PQ-rich protein, PQR protein, T-cell death-associated gene 51 protein, apoptosis-associated nuclear protein, proline- and glutamine-rich protein, proline- and histidine-rich protein, proline-histidine rich prote,
• Gene location: 12q21.2 (76031775: 76025446)     Exons: 2     NC_000012.12
• Gene summary(Entrez): This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008]
• OMIM: 605335

Protein Summary

• Protein general information: Q8WV24  
  • Name: Pleckstrin homology like domain family A member 1 (Apoptosis associated nuclear protein) (Proline and glutamine rich protein) (PQ rich protein) (PQR protein) (Proline and histidine rich protein) (T cell death associated gene 51 protein)
  • Length: 401  
  • Mass: 45016
  • Tissue specificity: Widely expressed with highest levels in pancreas. Strongly expressed by benign melanocytic nevi, and progressively reduced expressed in primary and metastatic melanomas (at protein level). {ECO
• Sequence:

  MRRAPAAERLLELGFPPRCGRQEPPFPLGVTRGWGRWPIQKRREGARPVPFSERSQEDGRGPAARSSGTLWRIRT
  RLSLCRDPEPPPPLCLLRVSLLCALRAGGRGSRWGEDGARLLLLPPARAAGNGEAEPSGGPSYAGRMLESSGCKA
  LKEGVLEKRSDGLLQLWKKKCCILTEEGLLLIPPKQLQHQQQQQQQQQQQQQQQPGQGPAEPSQPSGPAVASLEP
  PVKLKELHFSNMKTVDCVERKGKYMYFTVVMAEGKEIDFRCPQDQGWNAEITLQMVQYKNRQAILAVKSTRQKQQ
  HLVQQQPPSQPQPQPQLQPQPQPQPQPQPQPQSQPQPQPQPKPQPQQLHPYPHPHPHPHSHPHSHPHPHPHPHPH
  QIPHPHPQPHSQPHGHRLLRSTSNSA

• Structural information:
  • Protein Domains: (151..28-)
    (/note="PH"-)
  • Interpro: IPR011993  IPR001849  IPR042832  
  • STRING: ENSP00000266671
• Other Databases: GeneCards:  PHLDA1  Malacards:  PHLDA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901981	phosphatidylinositol phosphate binding	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045210	FasL biosynthetic process	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component

Diseases

Associated diseases	References
Involved in germ cell removal in cryptorchid testis	MIK: 21480429
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R