CHAMP1 (chromosome alignment maintaining phosphoprotein 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
283489
Gene name Gene Name - the full gene name approved by the HGNC.
Chromosome alignment maintaining phosphoprotein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHAMP1
Synonyms (NCBI Gene) Gene synonyms aliases
C13orf8, CAMP, CHAMP, MRD40, NEDHILD, ZNF828
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRD40
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q34
Summary Summary of gene provided in NCBI Entrez 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 sist
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(22)
SNP ID Visualize variation Clinical significance Consequence
rs200070245 C>A,T Pathogenic Stop gained, coding sequence variant, missense variant
rs782397980 C>G,T Pathogenic Coding sequence variant, missense variant, stop gained
rs797044961 C>- Pathogenic Coding sequence variant, frameshift variant
rs797044962 C>T Pathogenic Coding sequence variant, stop gained
rs797044963 CA>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT019662 hsa-miR-378a-3p Sequencing 20371350
MIRT023605 hsa-miR-1-3p Proteomics 18668040
MIRT025705 hsa-miR-7-5p Microarray 19073608
MIRT027275 hsa-miR-101-3p Sequencing 20371350
MIRT039717 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0000777 Component Condensed chromosome kinetochore IBA 21873635
GO:0000777 Component Condensed chromosome kinetochore IDA 21063390
GO:0000793 Component Condensed chromosome IDA 21063390
GO:0005515 Function Protein binding IPI 20850016, 21063390, 26496610, 29656893, 29789392
GO:0005634 Component Nucleus IDA 21063390
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616327 20311 ENSG00000198824
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96JM3
Protein name Chromosome alignment-maintaining phosphoprotein 1 (Zinc finger protein 828)
Protein 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 a
PDB 5XPT , 5XPU , 6EKJ , 6EKL
Family and domains
Sequence 
MEAFQELRKPSARLECDHCSFRGTDYENVQIHMGTIHPEFCDEMDAGGLGKMIFYQKSAK
LFHCHKCFFTSKMYSNVYYHITSKHASPDKWNDKPKNQLNKETDPVKSPPLPEHQKIPCN
SAEPKSIPALSMETQKLGSVLSPESPKPTPLTPLEPQKPGSVVSPELQTPLPSPEPSKPA
SVSSPEPPKSVPVCESQKLAPVPSPEPQKPAPVSPESVKATLSNPKPQKQSHFPETLGPP
SASSPESPVLAASPEPWGPSPAASPESRKSARTTSPEPRKPSPSESPEPWKPFPAVSPEP
RRPAPAVSPGSWKPGPPGSPRPWKSNPSASSGPWKPAKPAPSVSPGPWKPIPSVSPGPWK
PTPSVSSASWKSSSVSPSSWKSPPASPESWKSGPPELRKTAPTLSPEHWKAVPPVSPELR
KPGPPLSPEIRSPAGSPELRKPSGSPDLWKLSPDQRKTSPASLDFPESQKSSRGGSPDLW
KSSFFIEPQKPVFPETRKPGPSGPSESPKAASDIWKPVLSIDTEPRKPALFPEPAKTAPP
ASPEARKRALFPEPRKHALFPELPKSALFSESQKAVELGDELQIDAIDDQKCDILVQEEL
LASPKKLLEDTLFPSSKKLKKDNQESSDAELSSSEYIKTDLDAMDIKGQESSSDQEQVDV
ESIDFSKENKMDMTSPEQSRNVLQFTEEKEAFISEEEIAKYMKRGKGKYYCKICCCRAMK
KGAVLHHLVNKHNVHSPYKCTICGKAFLLESLLKNHVAAHGQSLLKCPRCNFESNFPRGF
KKHLTHCQSRHNEEANKKLMEALEPPLEEQQI
Sequence length 812
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)		 26340335
Multiple congenital anomalies Multiple congenital anomalies rs1057517732 26340335, 26751395, 27148580, 25533962, 21063390
Non-syndromic intellectual disability Autosomal dominant non-syndromic intellectual disability rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Non-Syndromic Intellectual Disability autosomal dominant non-syndromic intellectual disability GenCC
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Hypertension Hypertension GWAS
Show/Hide Text Mining Associations (19)
Associations from Text Mining
Disease Name Relationship Type References
Alcohol Related Disorders Associate 26751395
Autism Spectrum Disorder Associate 34021018
Chromosome Deletion Associate 37454340
Congenital Abnormalities Associate 26340335
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 37454340
Constipation Associate 34021018
Developmental Disabilities Associate 26340335, 34021018
Disease Associate 36658409
Gastroesophageal Reflux Associate 34021018
Intellectual Disability Associate 26340335, 26751395, 34021018, 39738383