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

Gene ID: 283489, updated on 3-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
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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 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
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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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