CEP72 centrosomal protein 72 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CEP72provided by HGNC
Official Full Name: centrosomal protein 72provided by HGNC
Primary source: HGNC:HGNC:25547
See related: Ensembl:ENSG00000112877 MIM:616475; AllianceGenome:HGNC:25547
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lung (RPKM 2.7), thyroid (RPKM 2.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p15.33

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (612340..676616)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (610390..666525)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (612455..668859)

Chromosome 5 - NC_000005.10 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?

Contribution of common and rare genetic variants in CEP72 on vincristine-induced peripheral neuropathy in brain tumour patients.
Title: Contribution of common and rare genetic variants in CEP72 on vincristine-induced peripheral neuropathy in brain tumour patients.
Association between CEP72 genotype and persistent neuropathy in survivors of childhood acute lymphoblastic leukemia.
Title: Association between CEP72 genotype and persistent neuropathy in survivors of childhood acute lymphoblastic leukemia.
Comprehensive assessments of germline deletion structural variants reveal the association between prognostic MUC4 and CEP72 deletions and immune response gene expression in colorectal cancer patients.
Title: Comprehensive assessments of germline deletion structural variants reveal the association between prognostic MUC4 and CEP72 deletions and immune response gene expression in colorectal cancer patients.
Functional genetic variants in centrosome-related genes CEP72 and YWHAG confer susceptibility to gastric cancer.
Title: Functional genetic variants in centrosome-related genes CEP72 and YWHAG confer susceptibility to gastric cancer.
Association of CEP72 rs924607 TT Genotype with Vincristine-induced Peripheral Neuropathy Measured by Motor Nerve Conduction Studies.", trans "Assoziation von CEP72 rs924607TTGenotyp mit Vincristin-induzierter peripherer Neuropathie, gemessen durch Untersuchungen der motorischen Nervenleitung.
Title: Association of CEP72 rs924607 TT Genotype with Vincristine-induced Peripheral Neuropathy Measured by Motor Nerve Conduction Studies.
overexpression of CEP72 was associated with a sizable increase in cAMP response element-binding protein binding at the SERPINE1 promoter, leading to increased SERPINE1 transcription.
Title: Overexpression of CEP72 Promotes Bladder Urothelial Carcinoma Cell Aggressiveness via Epigenetic CREB-Mediated Induction of SERPINE1.
Concerning CEP72, our results are in line with the findings from the St Jude cohort of children treated for ALL with higher vincristine doses during chronic treatment. Larger high-throughput genetic analyses may be warranted to evaluate variants in other candidate genes such as CYP3A5 and reveal new nonpreviously reported alleles that may be peculiar to this region of the world
Title: Genetic polymorphisms in candidate genes are not associated with increased vincristine-related peripheral neuropathy in Arab children treated for acute childhood leukemia: a single institution study.
CEP72-ROS1 is a novel ROS1 fusion variant in non-small cell lung cancer (NSCLC) discovered by next-generation sequencing and could be included in ROS1 detection assay, such as reverse transcription PCR.
Title: CEP72-ROS1: A novel ROS1 oncogenic fusion variant in lung adenocarcinoma identified by next-generation sequencing.
CEP72 represents a putative oncogene in colorectal cancer that might negatively regulate the mitotic function of BRCA1 to ensure chromosomal stability
Title: The putative oncogene CEP72 inhibits the mitotic function of BRCA1 and induces chromosomal instability.
The CEP72 polymorphism can identify adults at increased risk of vincristine-induced peripheral neuropathy
Title: An Inherited Genetic Variant in CEP72 Promoter Predisposes to Vincristine-Induced Peripheral Neuropathy in Adults With Acute Lymphoblastic Leukemia.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

EBI GWAS Catalog

Description
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in centriole replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in centriole replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gamma-tubulin complex localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization to centrosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of protein localization to centrosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spindle organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in spindle organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in centriolar satellite	IBA Inferred from Biological aspect of Ancestor more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: centrosomal protein of 72 kDa

Names: centrosomal protein 72kDa

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_018140.4 → NP_060610.2 centrosomal protein of 72 kDa

See identical proteins and their annotated locations for NP_060610.2

Status: REVIEWED

Source sequence(s)

BC000132, BG718176

Consensus CDS

CCDS34126.1

UniProtKB/Swiss-Prot

B4DR26, Q9BV03, Q9BWM3, Q9NVR4, Q9P209

Related

ENSP00000264935.5, ENST00000264935.6

Conserved Domains (3) summary

sd00031
Location:56 → 77

LRR_1; leucine-rich repeat [structural motif]

pfam14580
Location:56 → 153

LRR_9; Leucine-rich repeat

cl25732
Location:444 → 590

SMC_N; RecF/RecN/SMC N terminal domain

RNA

NR_164122.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC026740, AC106772

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_000005.10 Reference GRCh38.p14 Primary Assembly

Range

612340..676616

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047417363.1 → XP_047273319.1 centrosomal protein of 72 kDa isoform X1

UniProtKB/Swiss-Prot

B4DR26, Q9BV03, Q9BWM3, Q9NVR4, Q9P209
XM_047417364.1 → XP_047273320.1 centrosomal protein of 72 kDa isoform X1

UniProtKB/Swiss-Prot

B4DR26, Q9BV03, Q9BWM3, Q9NVR4, Q9P209
XM_047417365.1 → XP_047273321.1 centrosomal protein of 72 kDa isoform X1

UniProtKB/Swiss-Prot

B4DR26, Q9BV03, Q9BWM3, Q9NVR4, Q9P209
XM_011514063.2 → XP_011512365.1 centrosomal protein of 72 kDa isoform X1

See identical proteins and their annotated locations for XP_011512365.1

UniProtKB/Swiss-Prot

B4DR26, Q9BV03, Q9BWM3, Q9NVR4, Q9P209

Conserved Domains (3) summary

sd00031
Location:56 → 77

LRR_1; leucine-rich repeat [structural motif]

pfam14580
Location:56 → 153

LRR_9; Leucine-rich repeat

cl25732
Location:444 → 590

SMC_N; RecF/RecN/SMC N terminal domain
XM_047417366.1 → XP_047273322.1 centrosomal protein of 72 kDa isoform X1

UniProtKB/Swiss-Prot

B4DR26, Q9BV03, Q9BWM3, Q9NVR4, Q9P209
XM_005248322.4 → XP_005248379.1 centrosomal protein of 72 kDa isoform X2

See identical proteins and their annotated locations for XP_005248379.1

Conserved Domains (4) summary

smart00446
Location:68 → 85

LRRcap; occurring C-terminal to leucine-rich repeats

sd00031
Location:6 → 27

LRR_1; leucine-rich repeat [structural motif]

pfam12799
Location:4 → 44

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:4 → 53

LRR_8; Leucine rich repeat
XM_011514064.3 → XP_011512366.1 centrosomal protein of 72 kDa isoform X2

See identical proteins and their annotated locations for XP_011512366.1

Conserved Domains (4) summary

smart00446
Location:68 → 85

LRRcap; occurring C-terminal to leucine-rich repeats

sd00031
Location:6 → 27

LRR_1; leucine-rich repeat [structural motif]

pfam12799
Location:4 → 44

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:4 → 53

LRR_8; Leucine rich repeat
XM_047417367.1 → XP_047273323.1 centrosomal protein of 72 kDa isoform X2
XM_047417368.1 → XP_047273324.1 centrosomal protein of 72 kDa isoform X3