CENPS - centromere protein S Gene

Also Known as MHF1; APITD1; CENP-S; FAAP16

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 378708

About CENPS

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:10,430,433-10,442,808 (from NCBI)

This gene has 5 transcripts (splice variants), 171 orthologues and 1 paralogue. Broad expression in testis (RPKM 21.7), kidney (RPKM 12.6) and 24 other tissues.

Summary

This gene was identified in the neuroblastoma tumor suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumors, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. The protein is a component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known functions include an involvement with chromatin associations of the FA core complex, and a role in the stable assembly of the outer kinetochore. Alternative splicing of this gene results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream cortistatin (CORT) gene, as represented in GeneID:100526739. An APITD1-related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2010]

CENPS Products (1)

mRNA Protein Name
NM_199294.3 NP_954988.1 centromere protein S
Molecular Function GO Annotation Evidence References Source
enables DNA binding IDA
IDA: Inferred from direct assay
20347429 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
20347429 GOA
contributes to double-stranded DNA binding IDA
IDA: Inferred from direct assay
20347428 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20347429 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA damage response IDA
IDA: Inferred from direct assay
20347429 GOA
involved in DNA damage response IMP
IMP: Inferred from mutant phenotype
20347428 GOA
involved in DNA repair IDA
IDA: Inferred from direct assay
20347429 GOA
involved in interstrand cross-link repair IDA
IDA: Inferred from direct assay
20347429 GOA
involved in replication fork processing IMP
IMP: Inferred from mutant phenotype
20347428 GOA
involved in resolution of meiotic recombination intermediates IMP
IMP: Inferred from mutant phenotype
20347428 GOA
Cellular Component GO Annotation Evidence References Source
part of FANCM-MHF complex IDA
IDA: Inferred from direct assay
20347428 GOA
part of FANCM-MHF complex IPI
IPI: Inferred from physical interaction
20347429 GOA
part of Fanconi anaemia nuclear complex IDA
IDA: Inferred from direct assay
20347428 GOA
located in chromatin IDA
IDA: Inferred from direct assay
20347429 GOA
part of inner kinetochore IPI
IPI: Inferred from physical interaction
36085283 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CENPS Protein Structure

CENP-S

CENP-S: CENP-S protein (17 - 92)

  • 0
  • 100
  • 138 a.a.
Protein Preferred Names Protein Names

centromere protein S

  • FANCM associated histone fold protein 1

Related Diseases

Diseases Alias
Crest Syndrome
Neuroblastoma
  • Nb

  • Neuroblastoma, Susceptibility To

  • Neuroblastomas

  • Central Neuroblastoma

Dyskinesia Of Esophagus
  • Esophageal Motility Disorders

  • Dyskinesia Of Oesophagus

  • Esophageal Dysmotility

  • Esophageal Motility Disorder

  • Oesophageal Dysmotility

  • Oesophageal Motor Disorder

  • Esophageal Spasm

Limited Scleroderma
  • Limited Cutaneous Systemic Sclerosis

  • Limited Systemic Sclerosis

  • Systemic Sclerosis Sine Scleroderma

  • Crest Syndrome

  • Limited Cutaneous Systemic Scleroderma

  • Scleroderma, Limited

  • Systemic Sclerosis, Limited

  • Progressive Systemic Sclerosis Sine Scleroderma

  • Scleroderma, Sine

  • Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome

  • Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

Telangiectasis
  • Telangiectasia

Aplastic Anemia
  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CENPS RGD RGD:5128728
Mus musculus CENPS MGD MGI:1917178
Others CENPS NCBI