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Aliases for MHF1 Gene

Aliases for MHF1 Gene

  • FANCM Associated Histone Fold Protein 1 2 3
  • Apoptosis-Inducing, TAF9-Like Domain 1 2 3 5
  • APITD1 3 4 5
  • Apoptosis-Inducing TAF9-Like Domain-Containing Protein 1 3 4
  • Fanconi Anemia-Associated Polypeptide Of 16 KDa 3 4
  • FANCM-Interacting Histone Fold Protein 1 3 4
  • Centromere Protein S 2 3
  • CENP-S 3 4
  • FAAP16 3 4
  • CENPS 3 4

External Ids for MHF1 Gene

Previous HGNC Symbols for MHF1 Gene

  • APITD1

Summaries for MHF1 Gene

Entrez Gene Summary for MHF1 Gene

  • 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]

GeneCards Summary for MHF1 Gene

MHF1 (FANCM Associated Histone Fold Protein 1) is a Protein Coding gene. Diseases associated with MHF1 include Systemic Scleroderma and Neuroblastoma. Among its related pathways are Signaling by GPCR and Fanconi anemia pathway. An important paralog of this gene is APITD1-CORT.

UniProtKB/Swiss-Prot for MHF1 Gene

  • DNA-binding component of the FA core complex involved in DNA damage repair and genome maintenance. Required for optimal chromatin association of the FA core complex. Required for efficient damage-induced monoubiquitination and focus formation of FANCD2. Stabilizes FAAD24, FANCM and STRA13/CENPX in the FA core complex. Plays a role in DNA interstrand cross-linking (ICL) repair and in recovery of replication forks stalled by topoisomerase I-DNA cleavage intermediates induced by camptothecin. Component of the heterotetrameric CENP-T-W-S-X complex that binds and supercoils DNA, and plays an important role in kinetochore assembly. Component of the APITD1/CENPS complex that is essential for the stable assembly of the outer kinetochore. Plays an important role in mitotic progression and chromosome segregation. Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MHF1 Gene

Genomics for MHF1 Gene

Regulatory Elements for MHF1 Gene

Enhancers for MHF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around MHF1 on UCSC Golden Path with GeneCards custom track

Promoters for MHF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MHF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MHF1 Gene

Chromosome:
1
Start:
10,430,102 bp from pter
End:
10,442,815 bp from pter
Size:
12,714 bases
Orientation:
Plus strand

Genomic View for MHF1 Gene

Genes around MHF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MHF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MHF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MHF1 Gene

Proteins for MHF1 Gene

  • Protein details for MHF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N2Z9-CENPS_HUMAN
    Recommended name:
    Centromere protein S
    Protein Accession:
    Q8N2Z9
    Secondary Accessions:
    • Q8NFE5
    • Q8NFG5

    Protein attributes for MHF1 Gene

    Size:
    138 amino acids
    Molecular mass:
    15893 Da
    Quaternary structure:
    • Component of a discrete APITD1/CENPS complex composed of at least APITD1/CENPS and STRA13/CENPX. Belongs to the multisubunit FA complex composed of APITD1/CENPS, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and STRA13/CENPX. Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and APITD1/CENPS. The CENPA-CAD complex is probably recruited on centromeres by the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU. Interacts with APITD1/CENPS, FANCM and FAAP24. Binds DNA. Component of a heterotetrameric CENP-T-W-S-X complex composed of APITD1/CENPS, STRA13/CENPX, CENPT and CENPW.

    Three dimensional structures from OCA and Proteopedia for MHF1 Gene

    Alternative splice isoforms for MHF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MHF1 Gene

Post-translational modifications for MHF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MHF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MHF1 Gene

Domains & Families for MHF1 Gene

Protein Domains for MHF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MHF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N2Z9

UniProtKB/Swiss-Prot:

CENPS_HUMAN :
  • Belongs to the TAF9 family. CENPS subfamily.
Family:
  • Belongs to the TAF9 family. CENPS subfamily.
genes like me logo Genes that share domains with MHF1: view

No data available for Gene Families for MHF1 Gene

Function for MHF1 Gene

Molecular function for MHF1 Gene

UniProtKB/Swiss-Prot Function:
DNA-binding component of the FA core complex involved in DNA damage repair and genome maintenance. Required for optimal chromatin association of the FA core complex. Required for efficient damage-induced monoubiquitination and focus formation of FANCD2. Stabilizes FAAD24, FANCM and STRA13/CENPX in the FA core complex. Plays a role in DNA interstrand cross-linking (ICL) repair and in recovery of replication forks stalled by topoisomerase I-DNA cleavage intermediates induced by camptothecin. Component of the heterotetrameric CENP-T-W-S-X complex that binds and supercoils DNA, and plays an important role in kinetochore assembly. Component of the APITD1/CENPS complex that is essential for the stable assembly of the outer kinetochore. Plays an important role in mitotic progression and chromosome segregation. Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation.

Gene Ontology (GO) - Molecular Function for MHF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 20347429
GO:0003682 chromatin binding IDA 20347429
GO:0003690 contributes_to double-stranded DNA binding IDA 20347428
GO:0005515 protein binding IPI 20347429
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with MHF1: view
genes like me logo Genes that share phenotypes with MHF1: view

Animal Model Products

miRNA for MHF1 Gene

miRTarBase miRNAs that target MHF1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MHF1 Gene

Localization for MHF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MHF1 Gene

Nucleus. Chromosome, centromere. Chromosome, centromere, kinetochore. Note=Constitutively localizes to centromeres throughout the cell cycle, and to kinetochores during mitosis (PubMed:19620631). {ECO:0000269 PubMed:19620631}.

Gene Ontology (GO) - Cellular Components for MHF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0043240 Fanconi anaemia nuclear complex IDA 20347428
GO:0071821 FANCM-MHF complex IDA 20347428
genes like me logo Genes that share ontologies with MHF1: view

No data available for Subcellular locations from COMPARTMENTS for MHF1 Gene

Pathways & Interactions for MHF1 Gene

genes like me logo Genes that share pathways with MHF1: view

Pathways by source for MHF1 Gene

Gene Ontology (GO) - Biological Process for MHF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000712 resolution of meiotic recombination intermediates IMP 20347428
GO:0006281 DNA repair IDA 20347429
GO:0006312 mitotic recombination IBA --
GO:0006974 cellular response to DNA damage stimulus IMP 20347428
GO:0007062 sister chromatid cohesion TAS --
genes like me logo Genes that share ontologies with MHF1: view

No data available for SIGNOR curated interactions for MHF1 Gene

Drugs & Compounds for MHF1 Gene

No Compound Related Data Available

Transcripts for MHF1 Gene

mRNA/cDNA for MHF1 Gene

(1) REFSEQ mRNAs :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MHF1 Gene

No ASD Table

Relevant External Links for MHF1 Gene

GeneLoc Exon Structure for
MHF1
ECgene alternative splicing isoforms for
MHF1

Expression for MHF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of MHF1 Gene:

MHF1

mRNA Expression by UniProt/SwissProt for MHF1 Gene:

Q8N2Z9-CENPS_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with MHF1: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MHF1 Gene

Orthologs for MHF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MHF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia APITD1 34
  • 88.11 (n)
  • 83.72 (a)
APITD1 35
  • 61 (a)
OneToMany
dog
(Canis familiaris)
Mammalia APITD1 34
  • 86.5 (n)
  • 80.17 (a)
mouse
(Mus musculus)
Mammalia Apitd1 34
  • 81.2 (n)
  • 77.78 (a)
Apitd1 16
Apitd1 35
  • 54 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia APITD1 34
  • 99.52 (n)
  • 98.55 (a)
APITD1 35
  • 69 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Apitd1 34
  • 81.94 (n)
  • 76.67 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 53 (a)
OneToMany
chicken
(Gallus gallus)
Aves APITD1 34
  • 66.67 (n)
  • 66.67 (a)
APITD1 35
  • 49 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia apitd1 34
  • 66.38 (n)
  • 69.23 (a)
zebrafish
(Danio rerio)
Actinopterygii apitd1 34
  • 63.31 (n)
  • 58.82 (a)
apitd1 35
  • 46 (a)
OneToMany
Species where no ortholog for MHF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MHF1 Gene

ENSEMBL:
Gene Tree for MHF1 (if available)
TreeFam:
Gene Tree for MHF1 (if available)

Paralogs for MHF1 Gene

Paralogs for MHF1 Gene

Pseudogenes.org Pseudogenes for MHF1 Gene

genes like me logo Genes that share paralogs with MHF1: view

Variants for MHF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MHF1 Gene

Variant ID Type Subtype PubMed ID
esv2758920 CNV gain+loss 17122850
esv2764192 CNV gain 21179565

Variation tolerance for MHF1 Gene

Residual Variation Intolerance Score: 53.3% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MHF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MHF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for MHF1 Gene

Disorders for MHF1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MHF1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
systemic scleroderma
  • progressive systemic sclerosis
neuroblastoma
  • neuroblastoma 1
limited scleroderma
  • limited cutaneous systemic sclerosis
collagen disease
  • collagen disorder
congenital hypoplastic anemia
  • congenital aplastic anemia
- elite association - COSMIC cancer census association via MalaCards
Search MHF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MHF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MHF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MHF1
genes like me logo Genes that share disorders with MHF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MHF1 Gene

Publications for MHF1 Gene

  1. A novel 1p36.2 located gene, APITD1, with tumour-suppressive properties and a putative p53-binding domain, shows low expression in neuroblastoma tumours. (PMID: 15328517) Krona C. … Martinsson T. (Br. J. Cancer 2004) 2 3 4 22 65
  2. The human CENP-A centromeric nucleosome-associated complex. (PMID: 16622419) Foltz D.R. … Cleveland D.W. (Nat. Cell Biol. 2006) 2 3 4 65
  3. CENP-T-W-S-X forms a unique centromeric chromatin structure with a histone-like fold. (PMID: 22304917) Nishino T. … Fukagawa T. (Cell 2012) 3 4 65
  4. The CENP-S complex is essential for the stable assembly of outer kinetochore structure. (PMID: 19620631) Amano M. … Fukagawa T. (J. Cell Biol. 2009) 3 4 65
  5. The CENP-H-I complex is required for the efficient incorporation of newly synthesized CENP-A into centromeres. (PMID: 16622420) Okada M. … Fukagawa T. (Nat. Cell Biol. 2006) 2 3 65

Products for MHF1 Gene

Sources for MHF1 Gene

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