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  2. CEP55 - centrosomal protein 55 Gene

CEP55 - centrosomal protein 55 Gene

Homo sapiens

Also known as CT111; MARCH; URCC6; C10orf3

Gene ID: 55165 | Gene type: protein coding

About CEP55

Cytogenetic location: 10q23.33 Genomic coordinates (GRCh38): 10:93,496,612-93,529,092 (from NCBI)

This gene has 3 transcripts (splice variants), 234 orthologues and is associated with 2 phenotypes. Broad expression in testis (RPKM 13.8), lymph node (RPKM 8.3) and 14 other tissues.

Summary

Enables identical protein binding activity. Involved in cranial skeletal system development; establishment of protein localization; and midbody abscission. Acts upstream of or within mitotic cytokinesis. Located in Flemming body; centriolar satellite; and plasma membrane. Implicated in multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly. [provided by Alliance of Genome Resources, Apr 2022]

CEP55 Products(2)

mRNA Protein Name
NM_001127182.2 NP_001120654.2 centrosomal protein of 55 kDa
NM_018131.5 NP_060601.4 centrosomal protein of 55 kDa

CEP55 Protein Structure

EABR

EABR: TSG101 and ALIX binding domain of CEP55 (171 - 205)

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  • 464 a.a.
Protein Preferred Names Protein Names

centrosomal protein of 55 kDa

cancer/testis antigen 111

Related Diseases

Diseases Alias
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly

MARCH

Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly

Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome

Hydranencephaly With Renal Aplasia-Dysplasia

March Syndrome

Hydranencephaly

Hydroanencephaly

Renal Dysplasia

Kidney Dysplasia

Renal Cell Dysplasia

Congenital Renal Dysplasia

Dysplasia Of Kidney

Dysplastic Kidney

Cerebellar Hypoplasia
Hyperinsulinemic Hypoglycemia, Familial, 1

HHF1

Persistent Hyperinsulinemic Hypoglycemia Of Infancy

Familial Hyperinsulinemic Hypoglycemia 1

Congenital Hyperinsulinism

Phhi

Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency

Hypoglycemia, Hyperinsulinemic, Of Infancy

Hyperinsulinemic Hypoglycemia Due To Focal Adenomatous Hyperplasia

Nesidioblastosis Of Pancreas

Hyperinsulinism, Familial, With Pancreatic Nesidioblastosis

Hyperinsulinism, Congenital

Autosomal Dominant Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency

Diazoxide-Resistant Focal Hyperinsulinism Due To Sur1 Deficiency

Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency, Diazoxide-Resistant Focal Form

Autosomal Recessive Hyperinsulinism Due To Sur1 Deficiency

Autosomal Recessive Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency

Hypoglycemia, Hyperinsulinemic, Familial, Type 1

Hyperinsulinemic Hypoglycemia, Familial, 4

Hyperinsulinism Due To Glutamodehydrogenase Deficiency

HHF4

Familial Hyperinsulinemic Hypoglycemia 4

Hyperinsulinemic Hypoglycemia Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

Hyperinsulinism Due To Schad Deficiency

Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

Congenital Hyperinsulinism

Schad Deficiency

Persistent Hyperinsulinemic Hypoglycemia Of Infancy

Phhi

3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

Orthologs Information

Species Symbol Source ID
Felis catus CEP55 VGNC VGNC:60776
Macaca mulatta CEP55 VGNC VGNC:70935
Bos taurus CEP55 VGNC VGNC:27206
Rattus norvegicus CEP55 RGD RGD:1305340
Mus musculus CEP55 MGD MGI:1921357
Canis familiaris CEP55 VGNC VGNC:39130