CEP55 centrosomal protein 55 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CEP55provided by HGNC
Official Full Name: centrosomal protein 55provided by HGNC
Primary source: HGNC:HGNC:1161
See related: Ensembl:ENSG00000138180 MIM:610000; AllianceGenome:HGNC:1161
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CT111; MARCH; URCC6; C10orf3
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 and centrosome. Implicated in multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in testis (RPKM 13.8), lymph node (RPKM 8.3) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q23.33

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (93496612..93529092)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (94376610..94409086)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (95256369..95288849)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SPI1-mediated transcriptional activation of CEP55 promotes the malignant growth of triple-negative breast cancer and M2 macrophage polarization.
Title: SPI1-mediated transcriptional activation of CEP55 promotes the malignant growth of triple-negative breast cancer and M2 macrophage polarization.
Centrosomal Protein 55 Regulates Chromosomal Instability in Cancer Cells by Controlling Microtubule Dynamics.
Title: Centrosomal Protein 55 Regulates Chromosomal Instability in Cancer Cells by Controlling Microtubule Dynamics.
CEP55 predicts the poor prognosis and promotes tumorigenesis in endometrial cancer by regulating the Foxo1 signaling.
Title: CEP55 predicts the poor prognosis and promotes tumorigenesis in endometrial cancer by regulating the Foxo1 signaling.
CEP55 3'-UTR promotes epithelial-mesenchymal transition and enhances tumorigenicity of bladder cancer cells by acting as a ceRNA regulating miR-497-5p.
Title: CEP55 3'-UTR promotes epithelial-mesenchymal transition and enhances tumorigenicity of bladder cancer cells by acting as a ceRNA regulating miR-497-5p.
The Role of CEP55 Expression in Tumor Immune Response and Prognosis of Patients with Non-small Cell lung Cancer.
Title: The Role of CEP55 Expression in Tumor Immune Response and Prognosis of Patients with Non-small Cell lung Cancer.
Circ_0136666 aggravates osteosarcoma development through mediating miR-1244/CEP55 axis.
Title: Circ_0136666 aggravates osteosarcoma development through mediating miR-1244/CEP55 axis.
MicroRNA-148a-3p suppresses cell proliferation and migration of esophageal carcinoma by targeting CEP55.
Title: MicroRNA-148a-3p suppresses cell proliferation and migration of esophageal carcinoma by targeting CEP55.
Long intergenic non-protein coding RNA 662 accelerates the progression of gastric cancer through up-regulating centrosomal protein 55 by sponging microRNA-195-5p.
Title: Long intergenic non-protein coding RNA 662 accelerates the progression of gastric cancer through up-regulating centrosomal protein 55 by sponging microRNA-195-5p.
Inhibition of miR-144-3p exacerbates non-small cell lung cancer progression by targeting CEP55.
Title: Inhibition of miR-144-3p exacerbates non-small cell lung cancer progression by targeting CEP55.
The RNA-helicase DDX21 upregulates CEP55 expression and promotes neuroblastoma.
Title: The RNA-helicase DDX21 upregulates CEP55 expression and promotes neuroblastoma.

Submit: New GeneRIF Correction See all GeneRIFs (63)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MedGen: C1856053 OMIM: 236500 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cranial skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in midbody abscission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cytokinesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitotic cytokinesis	IGI Inferred from Genetic Interaction more info	PubMed
NOT involved_in mitotic metaphase chromosome alignment	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in nucleus organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Flemming body	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cleavage furrow	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in intercellular bridge	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
is_active_in midbody	IBA Inferred from Biological aspect of Ancestor more info
located_in midbody	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: centrosomal protein of 55 kDa

Names: cancer/testis antigen 111; centrosomal protein 55kDa; up-regulated in colon cancer 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001127182.2 → NP_001120654.2 centrosomal protein of 55 kDa

Status: VALIDATED

Description

Transcript Variant: This variant (2) results from use of an alternate splice donor site for exon 1.

Source sequence(s)

AL356214

Consensus CDS

CCDS7428.1

UniProtKB/Swiss-Prot

B2RDG8, D3DR37, Q32WF5, Q3MV20, Q53EZ4, Q5VY28, Q6N034, Q96H32, Q9NVS7

Conserved Domains (1) summary

COG1196
Location:21 → 405

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
NM_018131.5 → NP_060601.4 centrosomal protein of 55 kDa

Status: VALIDATED

Description

Transcript Variant: This variant (1) results from use of an alternate splice donor site for exon 1.

Source sequence(s)

AL356214

Consensus CDS

CCDS7428.1

UniProtKB/Swiss-Prot

B2RDG8, D3DR37, Q32WF5, Q3MV20, Q53EZ4, Q5VY28, Q6N034, Q96H32, Q9NVS7

Related

ENSP00000360540.3, ENST00000371485.8

Conserved Domains (1) summary

COG1196
Location:21 → 405

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

93496612..93529092

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017016373.2 → XP_016871862.1 centrosomal protein of 55 kDa isoform X1

Conserved Domains (1) summary

pfam12180
Location:2 → 35

EABR; TSG101 and ALIX binding domain of CEP55
XM_011539919.2 → XP_011538221.1 centrosomal protein of 55 kDa isoform X1

See identical proteins and their annotated locations for XP_011538221.1

Conserved Domains (1) summary

pfam12180
Location:2 → 35

EABR; TSG101 and ALIX binding domain of CEP55
XM_017016372.2 → XP_016871861.1 centrosomal protein of 55 kDa isoform X1

Conserved Domains (1) summary

pfam12180
Location:2 → 35

EABR; TSG101 and ALIX binding domain of CEP55
XM_047425416.1 → XP_047281372.1 centrosomal protein of 55 kDa isoform X1
XM_011539920.3 → XP_011538222.1 centrosomal protein of 55 kDa isoform X1

See identical proteins and their annotated locations for XP_011538222.1

Conserved Domains (1) summary

pfam12180
Location:2 → 35

EABR; TSG101 and ALIX binding domain of CEP55
XM_011539918.2 → XP_011538220.1 centrosomal protein of 55 kDa isoform X1

See identical proteins and their annotated locations for XP_011538220.1

Conserved Domains (1) summary

pfam12180
Location:2 → 35

EABR; TSG101 and ALIX binding domain of CEP55