CENPV (centromere protein V)

Gene

• Entrez ID: 201161
• Gene name: Centromere protein V
• Gene symbol: CENPV
• Synonyms (NCBI Gene): 3110013H01Rik, CENP-V, PRR6, p30
• Chromosome: 17
• Chromosome location: 17p11.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032391	hsa-let-7b-5p	Proteomics	18668040
MIRT049995	hsa-miR-28-5p	CLASH	23622248
MIRT2198923	hsa-miR-4768-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IBA
GO:0000776	Component	Kinetochore	IDA	18772885
GO:0000776	Component	Kinetochore	IEA
GO:0001667	Process	Ameboidal-type cell migration	IDA	19930468
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12196509, 19930468
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA	19930468
GO:0016846	Function	Carbon-sulfur lyase activity	IEA
GO:0030496	Component	Midbody	IDA
GO:0031508	Process	Pericentric heterochromatin formation	IBA
GO:0031508	Process	Pericentric heterochromatin formation	IMP	18772885
GO:0031965	Component	Nuclear membrane	IDA
GO:0032467	Process	Positive regulation of cytokinesis	IBA
GO:0032467	Process	Positive regulation of cytokinesis	IMP	18772885
GO:0033044	Process	Regulation of chromosome organization	IBA
GO:0033044	Process	Regulation of chromosome organization	IMP	18772885
GO:0034508	Process	Centromere complex assembly	IMP	18772885
GO:0046872	Function	Metal ion binding	IEA
GO:0051233	Component	Spindle midzone	IBA
GO:0051233	Component	Spindle midzone	IDA	18772885
GO:0051301	Process	Cell division	IEA

Other IDs

• MIM: 608139
• HGNC: 29920
• e!Ensembl: ENSG00000166582

Protein

• UniProt ID: Q7Z7K6
• Protein name: Centromere protein V (CENP-V) (Nuclear protein p30) (Proline-rich protein 6)
• Protein function: Required for distribution of pericentromeric heterochromatin in interphase nuclei and for centromere formation and organization, chromosome alignment and cytokinesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04828	GFA	170 → 257	Glutathione-dependent formaldehyde-activating enzyme	Domain

• Sequence:

  MRRSRSSAAAKLRGQKRSGASGASAAPAASAAAALAPSATRTRRSASQAGSKSQAVEKPP
  SEKPRLRRSSPRAQEEGPGEPPPPELALLPPPPPPPPTPATPTSSASNLDLGEQRERWET
  FQKRQKLTSEGAAKLLLDTFEYQGLVKHTGGCHCGAVRFEVWASADLHIFDCNCSICKKK
  QNRHFIVPASRFKLLKGAEHITTYTFNTHKAQHTFCKRCGVQSFYTPRSNPGGFGIAPHC
  LDEGTVRSMVTEEFNGSDWEKAMKEHKTIKNMSKE

• Sequence length: 275

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
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Amyotrophic Lateral Sclerosis	Associate	22959728	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Basal Cell	Associate	31260673	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Associate	209465	★☆☆☆☆ Found in Text Mining only
Leukemia	Associate	37794021	★☆☆☆☆ Found in Text Mining only
Leukemia Lymphocytic Chronic B Cell	Associate	6959750	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	17431130, 20376080, 26053097, 30679799, 37794021	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Associate	209465, 4372412	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Associate	209465	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	21427292	★☆☆☆☆ Found in Text Mining only
Poikiloderma with Neutropenia	Associate	1867319	★☆☆☆☆ Found in Text Mining only
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	36124714	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Associate	1867319, 1867320	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	31198983	★☆☆☆☆ Found in Text Mining only