Gene Gene information from NCBI Gene database.
Entrez ID 64946
Gene name Centromere protein H
Gene symbol CENPH
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5q13.2
Summary Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interpha
miRNA miRNA information provided by mirtarbase database.
101
miRTarBase ID miRNA Experiments Reference
MIRT714732 hsa-miR-4668-3p HITS-CLIP 19536157
MIRT714731 hsa-miR-605-5p HITS-CLIP 19536157
MIRT714730 hsa-miR-3675-3p HITS-CLIP 19536157
MIRT714729 hsa-miR-3613-3p HITS-CLIP 19536157
MIRT714728 hsa-miR-8063 HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SP1 Activation 22682030
SP3 Activation 22682030
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IBA
GO:0000776 Component Kinetochore IDA 11092768
GO:0000776 Component Kinetochore IEA
GO:0000776 Component Kinetochore IMP 20212317
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605607 17268 ENSG00000153044
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H3R5
Protein name Centromere protein H (CENP-H) (Interphase centromere complex protein 35)
Protein function Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal)
PDB 7PB4 , 7PKN , 7QOO , 7R5S , 7R5V , 7XHN , 7XHO , 7YWX , 7YYH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05837 CENP-H 126 239 Centromere protein H (CENP-H) Domain
Sequence
MEEQPQMQDADEPADSGGEGRAGGPPQVAGAQAACSEDRMTLLLRLRAQTKQQLLEYKSM
VDASEEKTPEQIMQEKQIEAKIEDLENEIEEVKVAFEIKKLALDRMRLSTALKKNLEKIS
RQSSVLMDNMKHLLELNKLIMKSQQESWDLEEKLLDIRKKRLQLKQASESKLLEIQTEKN
KQKIDLDSMENSERIKIIRQNLQMEIKITTVIQHVFQNLILGSKVNWAEDPALKEIVLQ
L
EKNVDMM
Sequence length 247
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Deposition of new CENPA-containing nucleosomes at the centromere
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Recurrent spontaneous abortion Uncertain significance rs1748193764 RCV001250899
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 18700042
Adenocarcinoma of Lung Associate 31731374
Allan Herndon Dudley syndrome Associate 18700042
Breast Neoplasms Associate 21880184
Carcinogenesis Associate 19500341
Carcinoma Non Small Cell Lung Associate 19170237
Colorectal Neoplasms Associate 30658502, 37328854
Esophageal Neoplasms Associate 18700042
Lung Neoplasms Stimulate 19170237
Nasopharyngeal Carcinoma Associate 22682030