CHAMP1
Chromosome alignment-maintaining phosphoprotein 1
Also known as: C13orf8, CAMP, CHAMP, CHAP1_HUMAN, ZNF828
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96JM3
- Gene
- CHAMP1
- Ensembl
- ENSG00000198824
- Chromosome
- 13
- Canonical length
- 812 aa
- Protein class
- Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear bodies
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
812 residues, UniProt reviewed canonical sequence.
>Q96JM3|CHAMP1
1 MEAFQELRKP SARLECDHCS FRGTDYENVQ IHMGTIHPEF CDEMDAGGLG KMIFYQKSAK
61 LFHCHKCFFT SKMYSNVYYH ITSKHASPDK WNDKPKNQLN KETDPVKSPP LPEHQKIPCN
121 SAEPKSIPAL SMETQKLGSV LSPESPKPTP LTPLEPQKPG SVVSPELQTP LPSPEPSKPA
181 SVSSPEPPKS VPVCESQKLA PVPSPEPQKP APVSPESVKA TLSNPKPQKQ SHFPETLGPP
241 SASSPESPVL AASPEPWGPS PAASPESRKS ARTTSPEPRK PSPSESPEPW KPFPAVSPEP
301 RRPAPAVSPG SWKPGPPGSP RPWKSNPSAS SGPWKPAKPA PSVSPGPWKP IPSVSPGPWK
361 PTPSVSSASW KSSSVSPSSW KSPPASPESW KSGPPELRKT APTLSPEHWK AVPPVSPELR
421 KPGPPLSPEI RSPAGSPELR KPSGSPDLWK LSPDQRKTSP ASLDFPESQK SSRGGSPDLW
481 KSSFFIEPQK PVFPETRKPG PSGPSESPKA ASDIWKPVLS IDTEPRKPAL FPEPAKTAPP
541 ASPEARKRAL FPEPRKHALF PELPKSALFS ESQKAVELGD ELQIDAIDDQ KCDILVQEEL
601 LASPKKLLED TLFPSSKKLK KDNQESSDAE LSSSEYIKTD LDAMDIKGQE SSSDQEQVDV
661 ESIDFSKENK MDMTSPEQSR NVLQFTEEKE AFISEEEIAK YMKRGKGKYY CKICCCRAMK
721 KGAVLHHLVN KHNVHSPYKC TICGKAFLLE SLLKNHVAAH GQSLLKCPRC NFESNFPRGF
781 KKHLTHCQSR HNEEANKKLM EALEPPLEEQ QILocalizationUniProt · AlphaFold · HPA
Whether an antibody against CHAMP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.64
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- tonsil: 16 nTPM
- thymus: 15 nTPM
- lymph node: 15 nTPM
- pancreas: 14 nTPM
- liver: 14 nTPM
- bone marrow: 13 nTPM
Single-cell type
- platelets: 54 nCPM
- erythrocyte progenitors: 54 nCPM
- gastric progenitor cells: 41 nCPM
- monocyte progenitors: 30 nCPM
- differentiating spermatogonia: 29 nCPM
- megakaryocyte progenitors: 29 nCPM
Immune cell
- plasmacytoid DC: 11 nTPM
- basophil: 7.3 nTPM
- non-classical monocyte: 5.7 nTPM
- naive B-cell: 5.1 nTPM
- memory B-cell: 4.9 nTPM
- eosinophil: 4.1 nTPM
Brain region
- cerebellum: 20 nTPM
- cerebral cortex: 16 nTPM
- hypothalamus: 16 nTPM
- choroid plexus: 15 nTPM
- midbrain: 15 nTPM
- basal ganglia: 14 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CHAMP1.
Disease | GeneticClinVar
58 pathogenic / likely-pathogenic of 336 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual disability, autosomal dominant 40
- CHAMP1-related syndrome
- intellectual disability with severe speech impairment
- Inborn genetic diseases
- Intellectual disability
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.27
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 0.14
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- attachment of mitotic spindle microtubules to kinetochore
- protein localization to kinetochore
- protein localization to microtubule
- sister chromatid biorientation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Zinc finger C2H2-type
- Zinc finger C2H2 superfamily
- Chromosome alignment-maintaining phosphoprotein 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CHAMP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CHAMP1 as an antibody target. Whether an autoantibody or antibody against CHAMP1 could matter depends on whether native CHAMP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CHAMP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CHAMP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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