2. Gene
  3. CHAMP1 - chromosome alignment maintaining phosphoprotein 1 Gene

CHAMP1 - chromosome alignment maintaining phosphoprotein 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 283489 | Gene type: protein coding

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
Protein Preferred Names Protein Names

chromosome alignment-maintaining phosphoprotein 1

zinc finger protein 828

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02596 CHAMP1 Human Pre-designed siRNA Set A / 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