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    CHAMP1 chromosome alignment maintaining phosphoprotein 1 [ Homo sapiens (human) ]

    Gene ID: 283489, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CHAMP1provided by HGNC
    Official Full Name
    chromosome alignment maintaining phosphoprotein 1provided by HGNC
    Primary source
    HGNC:HGNC:20311
    See related
    Ensembl:ENSG00000198824 MIM:616327; AllianceGenome:HGNC:20311
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAMP; CHAMP; MRD40; ZNF828; C13orf8; NEDHILD
    Summary
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 8.7), thyroid (RPKM 6.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CHAMP1 in Genome Data Viewer
    Location:
    13q34
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (114314503..114327322)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (113523561..113536364)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (115079978..115092797)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene UPF3A regulator of nonsense mediated mRNA decay Neighboring gene uncharacterized LOC124903222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:115057299-115057800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:115057801-115058300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:115060371-115060872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8066 Neighboring gene Sharpr-MPRA regulatory region 14980 Neighboring gene Charcot-Leyden crystal protein pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5563 Neighboring gene long intergenic non-protein coding RNA 1054 Neighboring gene uncharacterized LOC112268113 Neighboring gene ribosomal protein L23a pseudogene 97

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. Hempel M, et al. Am J Hum Genet, 2015 Sep 3. PMID 26340335, Free PMC Article
    2. De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Isidor B, et al. Hum Mutat, 2016 Apr. PMID 26751395
    3. Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1. Garrity M, et al. Cold Spring Harb Mol Case Stud, 2021 Aug. PMID 34021018, Free PMC Article
    4. De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. Tanaka AJ, et al. Cold Spring Harb Mol Case Stud, 2016 Jan. PMID 27148580, Free PMC Article
    5. Dynamic feature of mitotic arrest deficient 2-like protein 2 (MAD2L2) and structural basis for its interaction with chromosome alignment-maintaining phosphoprotein (CAMP). Hara K, et al. J Biol Chem, 2017 Oct 27. PMID 28887307, Free PMC Article

    See all (101) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome stability regulation via interaction with CHAMP1 and POGZ.
      Title: Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome stability regulation via interaction with CHAMP1 and POGZ.
    2. CHAMP1 binds to REV7/FANCV and promotes homologous recombination repair.
      Title: CHAMP1 binds to REV7/FANCV and promotes homologous recombination repair.
    3. Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
      Title: Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
    4. Chromosome alignment-maintaining phosphoprotein CHAMP1 plays a role in cell survival through regulating Mcl-1 expression.
      Title: Chromosome alignment-maintaining phosphoprotein CHAMP1 plays a role in cell survival through regulating Mcl-1 expression.
    5. structure-based interaction analyses revealed an unprecedented mechanism involving CAMP's WK motif. Surprisingly, in one of the crystal forms, the MAD2L2-CAMP complex formed a dimeric structure in which the C-terminal region of MAD2L2 was swapped and adopted an immature structure
      Title: Dynamic feature of mitotic arrest deficient 2-like protein 2 (MAD2L2) and structural basis for its interaction with chromosome alignment-maintaining phosphoprotein (CAMP).
    6. These data suggest a pathogenic mechanism of the CHAMP1-associated intellectual disability syndrome mediated by direct interacting partners of CHAMP1, several of which are involved in chromo/kinetochore-related disorders.
      Title: De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
    7. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
      Title: De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
    8. The study reports a novel protein involved in kinetochore-microtubule attachment, chromosome alignment-maintaining phosphoprotein (CAMP) (C13orf8, ZNF828).
      Title: CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual disability, autosomal dominant 40
    MedGen: C5676894 OMIM: 616579 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2024-05-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2024-05-14)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ90413, KIAA1802

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in attachment of mitotic spindle microtubules to kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in attachment of mitotic spindle microtubules to kinetochore IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to kinetochore IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to microtubule IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sister chromatid biorientation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sister chromatid biorientation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in condensed chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    chromosome alignment-maintaining phosphoprotein 1
    Names
    zinc finger protein 828

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051829.1 RefSeqGene

      Range
      5169..17988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164144.3 → NP_001157616.1  chromosome alignment-maintaining phosphoprotein 1

      See identical proteins and their annotated locations for NP_001157616.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AK096346, BM663717, DA289328, HY122776
      Consensus CDS
      CCDS9545.1
      UniProtKB/Swiss-Prot
      B3KU06, Q6P181, Q8NC88, Q96JM3, Q9BST0
      Related
      ENSP00000495985.2, ENST00000644294.2
      Conserved Domains (2) summary
      PHA03247
      Location:142 → 645
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:740 → 760
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001164145.3 → NP_001157617.1  chromosome alignment-maintaining phosphoprotein 1

      See identical proteins and their annotated locations for NP_001157617.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AK096346, BM663717, CN365659, HY122776
      Consensus CDS
      CCDS9545.1
      UniProtKB/Swiss-Prot
      B3KU06, Q6P181, Q8NC88, Q96JM3, Q9BST0
      Related
      ENSP00000494031.2, ENST00000645174.2
      Conserved Domains (2) summary
      PHA03247
      Location:142 → 645
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:740 → 760
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_032436.4 → NP_115812.1  chromosome alignment-maintaining phosphoprotein 1

      See identical proteins and their annotated locations for NP_115812.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
      Source sequence(s)
      AK096346, BM663717, HY122776
      Consensus CDS
      CCDS9545.1
      UniProtKB/Swiss-Prot
      B3KU06, Q6P181, Q8NC88, Q96JM3, Q9BST0
      Related
      ENSP00000354730.1, ENST00000361283.4
      Conserved Domains (2) summary
      PHA03247
      Location:142 → 645
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:740 → 760
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      114314503..114327322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430277.1 → XP_047286233.1  chromosome alignment-maintaining phosphoprotein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KU06, Q6P181, Q8NC88, Q96JM3, Q9BST0
      Related
      ENSP00000496699.1, ENST00000643483.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      113523561..113536364
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374469.1 → XP_054230444.1  chromosome alignment-maintaining phosphoprotein 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KU06, Q6P181, Q8NC88, Q96JM3, Q9BST0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96JM3.2 GenPept UniProtKB/Swiss-Prot:Q96JM3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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