Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	283489
Gene name	Chromosome alignment maintaining phosphoprotein 1
Gene symbol	CHAMP1
Synonyms (NCBI Gene)	C13orf8CAMPCHAMPMRD40NEDHILDZNF828
Chromosome	13
Chromosome location	13q34
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 sist

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
rs863225073	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs863225074	C>T	Pathogenic	Coding sequence variant, stop gained
rs863225075	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs863225076	G>-	Pathogenic	Coding sequence variant, stop gained
rs863225077	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs863225078	C>T	Pathogenic	Coding sequence variant, stop gained
rs879255261	G>A	Pathogenic	Coding sequence variant, stop gained
rs886041988	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1131691845	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1555379525	T>GC	Pathogenic	Coding sequence variant, frameshift variant
rs1555379911	C>G	Pathogenic	Stop gained, coding sequence variant
rs1555379968	T>G	Pathogenic	Stop gained, coding sequence variant
rs1594129609	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1594130666	CTCCTGAAC>A	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1594131663	->CCCT	Likely-pathogenic	Stop gained, coding sequence variant, inframe indel
rs1594131992	->GATA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1594132583	C>-	Pathogenic	Coding sequence variant, frameshift variant

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
MIRT037237	hsa-miR-877-5p	CLASH	23622248

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	21063390
GO:0000776	Component	Kinetochore	IEA
GO:0000793	Component	Condensed chromosome	IDA	21063390
GO:0005515	Function	Protein binding	IPI	20850016, 21063390, 26496610, 29656893, 29789392
GO:0005634	Component	Nucleus	IDA	21063390
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IBA
GO:0005819	Component	Spindle	IDA	21063390
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0031134	Process	Sister chromatid biorientation	IBA
GO:0031134	Process	Sister chromatid biorientation	IMP	21063390
GO:0034501	Process	Protein localization to kinetochore	IBA
GO:0034501	Process	Protein localization to kinetochore	IMP	21063390
GO:0035372	Process	Protein localization to microtubule	IBA
GO:0035372	Process	Protein localization to microtubule	IMP	21063390
GO:0046872	Function	Metal ion binding	IEA
GO:0051315	Process	Attachment of mitotic spindle microtubules to kinetochore	IBA
GO:0051315	Process	Attachment of mitotic spindle microtubules to kinetochore	IEA
GO:0051315	Process	Attachment of mitotic spindle microtubules to kinetochore	IMP	21063390

MIM	HGNC	e!Ensembl
616327	20311	ENSG00000198824

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

119

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CHAMP1-related syndrome	Pathogenic; Likely pathogenic	rs879255261, rs863225077, rs863225075, rs863225074, rs886041988, rs1555379525, rs1555379968, rs1594131663, rs1594129609, rs782465797	RCV001265375 RCV001265231 RCV001265373 RCV001265233 RCV001265374 RCV001265369 RCV001265370 RCV001265368 RCV001265372 RCV001265232
Intellectual disability	Pathogenic	rs2087240702, rs2087233948	RCV001261375 RCV001528191
intellectual disability with severe speech impairment	Pathogenic	rs797044961, rs797044962, rs200070245, rs797044963	RCV000190451 RCV000190452 RCV000190453 RCV000190454
Intellectual disability, autosomal dominant 40	Pathogenic; Likely pathogenic	rs2139419839, rs2139419099, rs2139422391, rs2139421634, rs2139421763, rs2139420056, rs2139422092, rs2139419505, rs2503198180, rs797044961, rs797044962, rs200070245, rs797044963, rs879255261, rs863225077 View all (10 more)	RCV001729905 RCV001375979 RCV001788507 RCV001780493 RCV001823054 RCV002248354 RCV002248355 RCV002251164 RCV002290107 RCV000192003 RCV000192002 RCV000192001 RCV000192000 RCV000191998 RCV001788067 RCV003149123 RCV003152899 RCV003314277 RCV003884001 RCV003883318 RCV003986001 RCV004526574 RCV001027665 RCV002471066 RCV001353218
Neurodevelopmental disorder	Likely pathogenic	rs2139419874	RCV001374911
See cases	Pathogenic	rs2503203991	RCV003128485

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs142125006	RCV005902657
CHAMP1-related disorder	Benign; Uncertain significance; Likely benign	rs34004547, rs9525332, rs782551982, rs1007989539, rs548630533, rs138074590, rs200854460, rs141506393, rs2087210017, rs781917636, rs2503203362, rs782661164, rs2503204722, rs143280916, rs781893314 View all (21 more)	RCV003975983 RCV003984094 RCV004749894 RCV004750318 RCV004750328 RCV003963767 RCV003946409 RCV003399711 RCV003404220 RCV003427856 RCV003429068 RCV003399963 RCV003410878 RCV003938919 RCV004750457 RCV003931828 RCV003923980 RCV003979626 RCV003984582 RCV003914767 RCV003926825 RCV003946769 RCV003971649 RCV003969645 RCV003935350 RCV003936005 RCV004749519 RCV003910482 RCV003910519 RCV003930556 RCV003912905 RCV003923072 RCV003902926 RCV003913157 RCV003925833 RCV003898252
Complex neurodevelopmental disorder	Conflicting classifications of pathogenicity; Likely benign	rs367949169, rs138074590, rs147842405	RCV005356326 RCV005356330 RCV005357769
Familial cancer of breast	Likely benign	rs142125006	RCV005902656
Gastric cancer	Likely benign	rs142125006	RCV005902658

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Language Disorders	Associate	34021018
Leukemia	Associate	34021018
Microcephaly	Associate	34021018
Muscle Hypotonia	Associate	26340335, 34021018
Neoplasms	Associate	36044844
Pain	Associate	34021018
Seizures	Associate	34021018
SHORT syndrome	Associate	26340335
Speech Disorders	Associate	26340335

CHAMP1 (chromosome alignment maintaining phosphoprotein 1)