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

Gene ID: 283489, updated on 17-Jun-2019

Summary

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
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
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

Genomic context

See CHAMP1 in Genome Data Viewer
Location:
13q34
Exon count:
3
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (114314503..114327322)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (115079965..115092803)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene UPF3A regulator of nonsense mediated mRNA decay Neighboring gene Charcot-Leyden crystal protein pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 1054 Neighboring gene 60S ribosomal protein L23a pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, autosomal dominant 40
MedGen: C4225275 OMIM: 616579 GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-03-27)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2018-03-27)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90413, KIAA1802

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..17994
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164144.3NP_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
    Q96JM3
    Conserved Domains (2) summary
    PHA03247
    Location:142645
    PHA03247; large tegument protein UL36; Provisional
    sd00017
    Location:740760
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. NM_001164145.3NP_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
    Q96JM3
    Related
    ENSP00000496699.1, ENST00000643483.1
    Conserved Domains (2) summary
    PHA03247
    Location:142645
    PHA03247; large tegument protein UL36; Provisional
    sd00017
    Location:740760
    ZF_C2H2; C2H2 Zn finger [structural motif]
  3. NM_032436.4NP_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
    Q96JM3
    Related
    ENSP00000354730.1, ENST00000361283.4
    Conserved Domains (2) summary
    PHA03247
    Location:142645
    PHA03247; large tegument protein UL36; Provisional
    sd00017
    Location:740760
    ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

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