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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 1 3
  • 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

Entrez Gene Summary for CHAMP1 Gene

  • This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017]

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 and Autosomal Dominant Non-Syndromic Intellectual Disability. Gene Ontology (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

Additional gene information for CHAMP1 Gene

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

Genomics for CHAMP1 Gene

GeneHancer (GH) Regulatory Elements for CHAMP1 Gene

Promoters and enhancers for CHAMP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I114312 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 +0.0 39 3.4 HDGF PKNOX1 CLOCK MLX ZFP64 SIN3A ZNF2 IRF4 E2F8 ZNF207 CHAMP1 UPF3A CDC16 GAS6-AS1 LINC01054
GH13I114126 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 27.2 -184.8 -184778 7 HDGF SMAD1 ARNT SIN3A ZNF2 IRF4 POLR2B ZNF213 FOS REST RASA3 CDC16 PCID2 CHAMP1 GAS6 UPF3A GAS6-AS1 DCUN1D2-AS LINC00565 PIR55533
GH13I114279 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.3 -33.3 -33277 4.3 HDGF CLOCK SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 UPF3A GC13P114279 LOC105370384 CDC16 CHAMP1 RASA3
GH13I114234 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 20.3 -79.1 -79086 2 PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 CDC16 CHAMP1 UPF3A MIR548AR
GH13I113447 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 20.1 -865.3 -865332 2.5 HDGF PKNOX1 ARNT ARID4B SIN3A SLC30A9 ZNF766 E2F8 ZNF143 DEK ADPRHL1 PCID2 TUBGCP3 CDC16 CHAMP1 DCUN1D2 TMCO3 LOC101928841 GC13M113076
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CHAMP1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CHAMP1 Gene

Genomic Locations for CHAMP1 Gene
chr13:114,314,490-114,327,328
(GRCh38/hg38)
Size:
12,839 bases
Orientation:
Plus strand
chr13:115,079,965-115,092,803
(GRCh37/hg19)

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};

    Three dimensional structures from OCA and Proteopedia for CHAMP1 Gene

neXtProt entry for CHAMP1 Gene

Post-translational modifications for CHAMP1 Gene

  • Phosphorylated by CDK1. Mitotic phosphorylation is required for the attachment of spindle microtubules to the kinetochore.
  • Ubiquitination at Lys66
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CHAMP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHAMP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CHAMP1: view

No data available for UniProtKB/Swiss-Prot for CHAMP1 Gene

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.

Phenotypes From GWAS Catalog for CHAMP1 Gene

Gene Ontology (GO) - Molecular Function for CHAMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 20850016
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CHAMP1: view

Phenotypes for CHAMP1 Gene

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

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHAMP1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CHAMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IDA,IEA 21063390
GO:0000793 condensed chromosome IDA 21063390
GO:0005634 nucleus IEA,IDA 21063390
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with CHAMP1: view

Pathways & Interactions for CHAMP1 Gene

SuperPathways for CHAMP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CHAMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031134 sister chromatid biorientation IMP 21063390
GO:0034501 protein localization to kinetochore IMP 21063390
GO:0035372 protein localization to microtubule IMP 21063390
GO:0051315 attachment of mitotic spindle microtubules to kinetochore 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, Investigational Pharma 2430
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, MaxQB, and MOPED for CHAMP1 Gene



Protein tissue co-expression partners for CHAMP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CHAMP1 Gene:

CHAMP1

SOURCE GeneReport for Unigene cluster for CHAMP1 Gene:

Hs.7542

Evidence on tissue expression from TISSUES for CHAMP1 Gene

  • Nervous system(4.4)
  • Liver(4.3)
  • Skin(4.3)
  • Adrenal gland(2.2)
  • Bone marrow(2.2)
  • Gall bladder(2.2)
  • Intestine(2.2)
  • Lung(2.2)
  • Lymph node(2.2)
  • Pancreas(2.2)
  • Spleen(2.2)
  • Stomach(2.2)
  • Thyroid gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHAMP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with CHAMP1: view

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
chimpanzee
(Pan troglodytes)
Mammalia ZNF828 33 34
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia CHAMP1 33 34
  • 91.07 (n)
cow
(Bos Taurus)
Mammalia CHAMP1 33 34
  • 89.51 (n)
rat
(Rattus norvegicus)
Mammalia Champ1 33
  • 79.85 (n)
mouse
(Mus musculus)
Mammalia Champ1 33 16 34
  • 78.86 (n)
oppossum
(Monodelphis domestica)
Mammalia CHAMP1 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHAMP1 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHAMP1 33 34
  • 63.75 (n)
lizard
(Anolis carolinensis)
Reptilia CHAMP1 34
  • 49 (a)
OneToOne
Species where no ortholog for CHAMP1 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)
  • 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 Variation AA Info Type
rs200070245 pathogenic, intellectual disability with severe speech impairment, Mental retardation, autosomal dominant 40 114,325,610(+) C/A/T coding_sequence_variant, missense_variant, stop_gained
rs782397980 pathogenic, Mental retardation, autosomal dominant 40 114,325,331(+) C/G/T coding_sequence_variant, missense_variant, stop_gained
rs797044961 pathogenic, intellectual disability with severe speech impairment, Mental retardation, autosomal dominant 40 114,324,474(+) CCCC/CCC coding_sequence_variant, frameshift
rs797044962 pathogenic, intellectual disability with severe speech impairment, Mental retardation, autosomal dominant 40 114,325,034(+) C/T coding_sequence_variant, stop_gained
rs797044963 pathogenic, intellectual disability with severe speech impairment, Mental retardation, autosomal dominant 40 114,325,707(+) ACA/A coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for CHAMP1 Gene

Variant ID Type Subtype PubMed ID
dgv1745n100 CNV gain 25217958
dgv1746n100 CNV gain 25217958
dgv1747n100 CNV gain 25217958
dgv1748n100 CNV gain 25217958
esv25715 CNV gain+loss 19812545
esv3633643 CNV gain 21293372
esv3633644 CNV gain 21293372
nsv516205 CNV loss 19592680
nsv518491 CNV loss 19592680
nsv563533 CNV loss 21841781

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)

Additional Variant Information for CHAMP1 Gene

Human Gene Mutation Database (HGMD)
CHAMP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHAMP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHAMP1 Gene

Disorders for CHAMP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CHAMP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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 (The EMBO journal 2011) 2 3 4 58
  2. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. (PMID: 26340335) Hempel M … Lessel D (American journal of human genetics 2015) 3 4 58
  3. Quantitative interaction proteomics and genome-wide profiling of epigenetic histone marks and their readers. (PMID: 20850016) Vermeulen M … Mann M (Cell 2010) 3 4 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for CHAMP1 Gene

Sources for CHAMP1 Gene

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