• Gene id: 57095

Gene Summary

• Gene Symbol: PITHD1   Gene   UCSC   Ensembl
• Aliases: C1orf128, HT014, TXNL1CL
• Gene name: PITH domain containing 1
• Alternate names: PITH domain-containing protein 1, PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1, TXNL1 C-terminal like,
• Gene location: 1p36.11 (6554534: 6521346)     Exons: 13     NC_000001.11
• OMIM: 618784

Protein Summary

• Protein general information: Q9GZP4  
  • Name: PITH domain containing protein 1
  • Length: 211  
  • Mass: 24178
  • Tissue specificity: Down-regulated in primary acute myeloid leukemia (AML) patients. {ECO
• Sequence:

  MSHGHSHGGGGCRCAAEREEPPEQRGLAYGLYLRIDLERLQCLNESREGSGRGVFKPWEERTDRSKFVESDADEE
  LLFNIPFTGNVKLKGIIIMGEDDDSHPSEMRLYKNIPQMSFDDTEREPDQTFSLNRDLTGELEYATKISRFSNVY
  HLSIHISKNFGADTTKVFYIGLRGEWTELRRHEVTICNYEASANPADHRVHQVTPQTHFIS

• Structural information:
  • Protein Domains: (20..19-)
    (/note="PITH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00864"-)
  • Interpro: IPR008979  IPR010400  IPR037047  
  • Prosite: PS51532
  • STRING: ENSP00000246151
• Other Databases: GeneCards:  PITHD1  Malacards:  PITHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0045654	positive regulation of megakaryocyte differentiation	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0045654	positive regulation of megakaryocyte differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	HDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)