CHAMP1 - chromosome alignment maintaining phosphoprotein 1 Gene

Also Known as CAMP; CHAMP; MRD40; ZNF828; C13orf8; NEDHILD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 283489

About CHAMP1

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:114,314,503-114,327,322 (from NCBI)

This gene has 10 transcripts (splice variants), 109 orthologues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 8.7), thyroid (RPKM 6.7) and 25 other tissues.

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]

CHAMP1 Products (3)

mRNA	Protein	Name
NM_001164144.3	NP_001157616.1	chromosome alignment-maintaining phosphoprotein 1
NM_001164145.3	NP_001157617.1	chromosome alignment-maintaining phosphoprotein 1
NM_032436.4	NP_115812.1	chromosome alignment-maintaining phosphoprotein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20850016	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in attachment of mitotic spindle microtubules to kinetochore	IMP IMP: Inferred from mutant phenotype	21063390	GOA
involved in protein localization to kinetochore	IMP IMP: Inferred from mutant phenotype	21063390	GOA
involved in protein localization to microtubule	IMP IMP: Inferred from mutant phenotype	21063390	GOA
involved in sister chromatid biorientation	IMP IMP: Inferred from mutant phenotype	21063390	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in condensed chromosome	IDA IDA: Inferred from direct assay	21063390	GOA
located in kinetochore	IDA IDA: Inferred from direct assay	21063390	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21063390	GOA
located in spindle	IDA IDA: Inferred from direct assay	21063390	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

CHAMP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHAMP1	Q96JM3	MAD2L2	Homo sapiens	Q9UI95	Far-WB	21063390
Intra	CHAMP1	Q96JM3	MAD2L2	Homo sapiens	Q9UI95	Anti Bait CoIP	21063390

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	NEDHILD Intellectual Developmental Disorder, Autosomal Dominant 40, Formerly Mrd40, Formerly Mental Retardation, Autosomal Dominant 40, Formerly Intellectual Developmental Disorder, Autosomal Dominant 40 MRD40
Autosomal Dominant Intellectual Disability 40	Intellectual Disability, Autosomal Dominant 40
Autosomal Dominant Non-Syndromic Intellectual Disability
Autosomal Dominant Intellectual Developmental Disorder 40	Autosomal Dominant Non-Syndromic Intellectual Disability 40 Autosomal Dominant Mental Retardation 40 Mrd40 Mental Retardation, Autosomal Dominant 40
Mosaic Variegated Aneuploidy Syndrome 2	MVA2 Mosaic Variegated Aneuploidy Syndrome, Type 2
Mosaic Variegated Aneuploidy Syndrome 1	Mva Syndrome MVA1 Mosaic Variegated Aneuploidy Syndrome, Type 1 Mosaic Variegated Aneuploidy Syndrome Congenital Chromosomal Disease
Intellectual Developmental Disorder, Autosomal Dominant 43	MRD43 Autosomal Dominant Non-Syndromic Intellectual Disability 43 Autosomal Dominant Intellectual Developmental Disorder 43 Autosomal Dominant Mental Retardation 43
Macular Dystrophy, Patterned, 2	Patterned Macular Dystrophy 2 MDPT2 Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 Butterfly-Shaped Pigmentary Maculary Dystrophy 2
Intellectual Developmental Disorder, Autosomal Dominant 35	MRD35 Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome Autosomal Dominant Non-Syndromic Intellectual Disability 35 Mental Retardation, Autosomal Dominant 35 Autosomal Dominant Intellectual Developmental Disorder 35 Autosomal Dominant Mental Retardation 35 Mental Retardation, Autosomal Dominant, Type 35
Chromosome 10q23 Deletion Syndrome
Ritscher-Schinzel Syndrome 2	RTSC2
Alternating Exotropia	Exotropia
Patterned Macular Dystrophy	Patterned Dystrophy Of Retinal Pigment Epithelium
Mosaic Variegated Aneuploidy Syndrome	Warburton-Anyane-Yeboa Syndrome Mva Syndrome Mosaic Variegated Aneuplody Microcephaly Syndrome Warburton Anyane Yeboa Syndrome
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-136972A	GB-1a	Inhibitor	/	Unkown
HY-153881	KRAS G12C degrader-1		/	Unkown
HY-N18300	Protocatechuic acid-2-glucoside		/	Unkown
HY-RS02596	CHAMP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CHAMP1	MGD	MGI:1196398
Canis familiaris	CHAMP1	VGNC	VGNC:39191
Felis catus	CHAMP1	VGNC	VGNC:82356
Macaca mulatta	CHAMP1	VGNC	VGNC:71061
Rattus norvegicus	CHAMP1	RGD	RGD:1311283
Bos taurus	CHAMP1	VGNC	VGNC:27268
Others	CHAMP1	NCBI