CENPX (centromere protein X)

Gene

• Entrez ID: 201254
• Gene name: Centromere protein X
• Gene symbol: CENPX
• Synonyms (NCBI Gene): CENP-X, D9, FAAP10, MHF2, STRA13
• Chromosome: 17
• Chromosome location: 17q25.3

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000712	Process	Resolution of meiotic recombination intermediates	IBA
GO:0000712	Process	Resolution of meiotic recombination intermediates	IMP	20347428
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IEA
GO:0000785	Component	Chromatin	IDA	20347429
GO:0000939	Component	Inner kinetochore	IPI	36085283
GO:0003677	Function	DNA binding	IDA	20347429
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IDA	20347428
GO:0005515	Function	Protein binding	IPI	20347429, 22304917, 23886707, 25416956, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	36085283
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007059	Process	Chromosome segregation	NAS	36085283
GO:0031297	Process	Replication fork processing	IBA
GO:0031297	Process	Replication fork processing	IMP	20347428
GO:0031398	Process	Positive regulation of protein ubiquitination	TAS	20347428
GO:0036297	Process	Interstrand cross-link repair	IDA	20347429
GO:0043240	Component	Fanconi anaemia nuclear complex	IBA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	20347428, 20347429
GO:0051301	Process	Cell division	IEA
GO:0051382	Process	Kinetochore assembly	IEA
GO:0071821	Component	FANCM-MHF complex	IBA
GO:0071821	Component	FANCM-MHF complex	IDA	20347428
GO:0071821	Component	FANCM-MHF complex	IPI	20347429

Other IDs

• MIM: 615128
• HGNC: 11422
• e!Ensembl: ENSG00000169689

Protein

• UniProt ID: A8MT69
• Protein name: Centromere protein X (CENP-X) (FANCM-associated histone fold protein 2) (FANCM-interacting histone fold protein 2) (Fanconi anemia-associated polypeptide of 10 kDa) (Retinoic acid-inducible gene D9 protein homolog) (Stimulated by retinoic acid gene 13 pro
• Protein function: DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking dr
• PDB: 4DRA, 4DRB, 4E44, 4E45, 4NDY, 4NE1, 4NE3, 4NE5, 4NE6, 7R5S, 7XHN, 7XHO, 7YWX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09415	CENP-X	12 → 81	CENP-S associating Centromere protein X	Domain

• Sequence:

  MEGAGAGSGFRKELVSRLLHLHFKDDKTKVSGDALQLMVELLKVFVVEAAVRGVRQAQAE
  DALRVDVDQLEKVLPQLLLDF

• Sequence length: 81

Pathways

KEGG:

Fanconi anemia pathway

Reactome:

Deposition of new CENPA-containing nucleosomes at the centromere
Fanconi Anemia Pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia Hemolytic	Hemolytic anemia	Pubtator	24390579	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15994878	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	15994878	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	22940579		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11278694		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31417608		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	20347429		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	20347429, 22895051	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	20347429		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31417608		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	15994878	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	11688991		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19624270		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21327324		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29350420		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	23518061	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	11688991		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19624270		★☆☆☆☆ Found in Text Mining only