CENPS - centromere protein S Gene

Homo sapiens

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

Gene ID: 378708 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

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

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-10299	GSK-923295		99.82%	Phase 1

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-19530	PF-2771	Inhibitor	99.66%	Unkown
HY-121569	Syntelin	Inhibitor	/	Unkown
HY-161897	CENP-E-IN-2	Inhibitor	/	Unkown
HY-161898	CENP-E-IN-3	Inhibitor	/	Unkown
HY-163288	EZH2/HSP90-IN-29		/	Unkown
HY-RS02490	CENPS Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

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

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