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Aliases for CHAMP1 Gene

Aliases for CHAMP1 Gene

  • Chromosome Alignment Maintaining Phosphoprotein 1 2 3 5
  • Zinc Finger Protein 828 2 3 4
  • C13orf8 3 4
  • ZNF828 3 4
  • CHAMP 3 4
  • CAMP 3 4
  • Chromosome Alignment-Maintaining Phosphoprotein 2
  • Chromosome 13 Open Reading Frame 8 2
  • KIAA1802 4
  • MRD40 3

External Ids for CHAMP1 Gene

Previous HGNC Symbols for CHAMP1 Gene

  • C13orf8
  • ZNF828

Previous GeneCards Identifiers for CHAMP1 Gene

  • GC13P115080

Summaries for CHAMP1 Gene

GeneCards Summary for CHAMP1 Gene

CHAMP1 (Chromosome Alignment Maintaining Phosphoprotein 1) is a Protein Coding gene. Diseases associated with CHAMP1 include mental retardation, autosomal dominant 40. GO annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot for CHAMP1 Gene

  • Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Involved in the maintenance of spindle microtubules attachment to the kinetochore during sister chromatid biorientation. May recruit CENPE and CENPF to the kinetochore.

Gene Wiki entry for CHAMP1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHAMP1 Gene

Genomics for CHAMP1 Gene

Regulatory Elements for CHAMP1 Gene

Enhancers for CHAMP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CHAMP1 on UCSC Golden Path with GeneCards custom track

Promoters for CHAMP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHAMP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHAMP1 Gene

Chromosome:
13
Start:
114,314,490 bp from pter
End:
114,327,328 bp from pter
Size:
12,839 bases
Orientation:
Plus strand

Genomic View for CHAMP1 Gene

Genes around CHAMP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHAMP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHAMP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHAMP1 Gene

Proteins for CHAMP1 Gene

  • Protein details for CHAMP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JM3-CHAP1_HUMAN
    Recommended name:
    Chromosome alignment-maintaining phosphoprotein 1
    Protein Accession:
    Q96JM3
    Secondary Accessions:
    • B3KU06
    • Q6P181
    • Q8NC88
    • Q9BST0

    Protein attributes for CHAMP1 Gene

    Size:
    812 amino acids
    Molecular mass:
    89099 Da
    Quaternary structure:
    • Interacts with MAD2L2. Interacts with POGZ, CBX1, CBX3 and CBX5.
    SequenceCaution:
    • Sequence=BAB47431.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC11273.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for CHAMP1 Gene

Proteomics data for CHAMP1 Gene at MOPED

Post-translational modifications for CHAMP1 Gene

  • Phosphorylated by CDK1. Mitotic phosphorylation is required for the attachment of spindle microtubules to the kinetochore.
  • Ubiquitination at Lys 66
  • Modification sites at PhosphoSitePlus

Other Protein References for CHAMP1 Gene

No data available for DME Specific Peptides for CHAMP1 Gene

Domains & Families for CHAMP1 Gene

Gene Families for CHAMP1 Gene

Protein Domains for CHAMP1 Gene

Suggested Antigen Peptide Sequences for CHAMP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96JM3

UniProtKB/Swiss-Prot:

CHAP1_HUMAN :
  • Contains 1 C2H2-type zinc finger.
Similarity:
  • Contains 1 C2H2-type zinc finger.
genes like me logo Genes that share domains with CHAMP1: view

Function for CHAMP1 Gene

Molecular function for CHAMP1 Gene

UniProtKB/Swiss-Prot Function:
Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Involved in the maintenance of spindle microtubules attachment to the kinetochore during sister chromatid biorientation. May recruit CENPE and CENPF to the kinetochore.

Gene Ontology (GO) - Molecular Function for CHAMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
genes like me logo Genes that share ontologies with CHAMP1: view

Phenotypes for CHAMP1 Gene

GenomeRNAi human phenotypes for CHAMP1:
genes like me logo Genes that share phenotypes with CHAMP1: view

Human Phenotype Ontology for CHAMP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CHAMP1 Gene

Localization for CHAMP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHAMP1 Gene

Nucleus. Chromosome. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHAMP1 Gene COMPARTMENTS Subcellular localization image for CHAMP1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5

Gene Ontology (GO) - Cellular Components for CHAMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000777 condensed chromosome kinetochore IDA 21063390
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CHAMP1: view

Pathways & Interactions for CHAMP1 Gene

SuperPathways for CHAMP1 Gene

No Data Available

Interacting Proteins for CHAMP1 Gene

Gene Ontology (GO) - Biological Process for CHAMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031134 sister chromatid biorientation IMP 21063390
genes like me logo Genes that share ontologies with CHAMP1: view

No data available for Pathways by source and SIGNOR curated interactions for CHAMP1 Gene

Drugs & Compounds for CHAMP1 Gene

(1) Drugs for CHAMP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2102
genes like me logo Genes that share compounds with CHAMP1: view

Transcripts for CHAMP1 Gene

Unigene Clusters for CHAMP1 Gene

Chromosome alignment maintaining phosphoprotein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHAMP1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e
SP1: -
SP2:
SP3:
SP4: -

Relevant External Links for CHAMP1 Gene

GeneLoc Exon Structure for
CHAMP1
ECgene alternative splicing isoforms for
CHAMP1

Expression for CHAMP1 Gene

mRNA expression in normal human tissues for CHAMP1 Gene

Protein differential expression in normal tissues from HIPED for CHAMP1 Gene

This gene is overexpressed in Liver (32.3) and Peripheral blood mononuclear cells (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CHAMP1 Gene



SOURCE GeneReport for Unigene cluster for CHAMP1 Gene Hs.7542

genes like me logo Genes that share expression patterns with CHAMP1: view

Protein tissue co-expression partners for CHAMP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CHAMP1 Gene

Orthologs for CHAMP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CHAMP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHAMP1 35
  • 89.51 (n)
  • 88.64 (a)
CHAMP1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHAMP1 35
  • 91.07 (n)
  • 91.98 (a)
CHAMP1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Champ1 35
  • 78.86 (n)
  • 76.32 (a)
Champ1 16
Champ1 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ZNF828 35
  • 99.67 (n)
  • 99.63 (a)
ZNF828 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Champ1 35
  • 79.85 (n)
  • 77.85 (a)
oppossum
(Monodelphis domestica)
Mammalia CHAMP1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHAMP1 36
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHAMP1 35
  • 63.75 (n)
  • 57.96 (a)
CHAMP1 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHAMP1 36
  • 49 (a)
OneToOne
Species with no ortholog for CHAMP1:
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CHAMP1 Gene

ENSEMBL:
Gene Tree for CHAMP1 (if available)
TreeFam:
Gene Tree for CHAMP1 (if available)

Paralogs for CHAMP1 Gene

No data available for Paralogs for CHAMP1 Gene

Variants for CHAMP1 Gene

Sequence variations from dbSNP and Humsavar for CHAMP1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs3764522 - 114,325,544(-) GAATA(C/G)AGCAG reference, missense
rs12428067 - 114,325,653(+) TTCAC(C/G)TAAGA reference, missense
rs35564629 - 114,325,614(+) TCAAA(A/G)ATGTG reference, missense
rs2149431 -- 114,312,775(+) aaaaa(A/G)gaaaa upstream-variant-2KB
rs3813131 -- 114,324,544(+) TTCCC(A/C/G)GAAAC reference, synonymous-codon

Variation tolerance for CHAMP1 Gene

Residual Variation Intolerance Score: 7.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.73; 46.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHAMP1 Gene

HapMap Linkage Disequilibrium report
CHAMP1
Human Gene Mutation Database (HGMD)
CHAMP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CHAMP1 Gene

Disorders for CHAMP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CHAMP1 Gene - From: OMIM, ClinVar, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 40
  • mrd40
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CHAP1_HUMAN
  • Mental retardation, autosomal dominant 40 (MRD40) [MIM:616579]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:25533962, ECO:0000269 PubMed:26340335}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHAMP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHAMP1
genes like me logo Genes that share disorders with CHAMP1: view

No data available for Genatlas for CHAMP1 Gene

Publications for CHAMP1 Gene

  1. CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore- microtubule attachment. (PMID: 21063390) Itoh G. … Tanaka K. (EMBO J. 2011) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. (PMID: 26340335) Hempel M. … Lessel D. (Am. J. Hum. Genet. 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for CHAMP1 Gene

Sources for CHAMP1 Gene

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