CEP70 centrosomal protein 70 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CEP70provided by HGNC
Official Full Name: centrosomal protein 70provided by HGNC
Primary source: HGNC:HGNC:29972
See related: Ensembl:ENSG00000114107 MIM:614310
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: BITE
Expression: Broad expression in testis (RPKM 11.4), duodenum (RPKM 7.8) and 22 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 3q22.3

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
109.20190607	current	GRCh38.p13 (GCF_000001405.39)	3	NC_000003.12 (138494339..138594383, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (138213186..138313187, complement)

Chromosome 3 - NC_000003.12 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
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 FunctionsWhat's a GeneRIF?

Cep70 interacts with tubulin, and promotes the ability of paclitaxel to stimulate microtubule assembly. These data demonstrate that Cep70 mediates paclitaxel sensitivity in breast cancer.
Title: Centrosomal Protein 70 Is a Mediator of Paclitaxel Sensitivity.
these results demonstrate a critical role for Cep70 in the development and progression of breast cancer.
Title: Discovery of Centrosomal Protein 70 as an Important Player in the Development and Progression of Breast Cancer.
Cep70 overexpression stimulates pancreatic cancer by inducing centrosome abnormality and microtubule disorganization
Title: Cep70 overexpression stimulates pancreatic cancer by inducing centrosome abnormality and microtubule disorganization.
findings suggest that Cep70 promotes microtubule stability by interaction with HDAC6 and regulation of tubulin acetylation
Title: Cep70 regulates microtubule stability by interacting with HDAC6.
data showed that Cep70 increased the microtubule length without affecting the microtubule number in the purified system; results demonstrate that Cep70 could directly regulate microtubule assembly by promoting microtubule elongation instead of microtubule nucleation
Title: Cep70 promotes microtubule assembly in vitro by increasing microtubule elongation.
These results thus report for the first time the identification of Cep70 as an important centrosomal protein that interacts with gamma-tubulin and underscore its critical role in the regulation of mitotic spindle assembly.
Title: CEP70 protein interacts with γ-tubulin to localize at the centrosome and is critical for mitotic spindle assembly.
Observational study of gene-disease association. (HuGE Navigator)
Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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AURKA Activation by TPX2, organism-specific biosystem (from REACTOME)
AURKA Activation by TPX2, organism-specific biosystemTPX2 binds to aurora kinase A (AURKA) at centrosomes and promotes its activation by facilitating AURKA active conformation and autophosphorylation of the AURKA threonine residue T288 (Bayliss et al. ...
Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
Cell Cycle, organism-specific biosystem (from REACTOME)
Cell Cycle, organism-specific biosystem
Cell Cycle
Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
Centrosome maturation, organism-specific biosystem (from REACTOME)
Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
Cilium Assembly, organism-specific biosystem (from REACTOME)
Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
G2/M Transition, organism-specific biosystem (from REACTOME)
G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystem (from REACTOME)
Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
Mitotic G2-G2/M phases, organism-specific biosystem
Mitotic G2-G2/M phases
Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemThe kinase activity of PLK1 is required for cell cycle progression as PLK1 phosphorylates and regulates a number of cellular proteins during mitosis. Centrosomic AURKA (Aurora A kinase), catalyticall...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S304 (e-PCR), detects polymorphism
- UniSTS:75817

SHGC-155251 (e-PCR)
- UniSTS:183739

RH102142 (e-PCR)
- UniSTS:96476

Homology

Homologs of the CEP70 gene: The CEP70 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Orthologs from Annotation Pipeline: 258 organisms have orthologs with human gene CEP70
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
gamma-tubulin binding	IEA Inferred from Electronic Annotation more info
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
G2/M transition of mitotic cell cycle	TAS Traceable Author Statement more info
ciliary basal body-plasma membrane docking	TAS Traceable Author Statement more info
regulation of G2/M transition of mitotic cell cycle	TAS Traceable Author Statement more info
regulation of microtubule cytoskeleton organization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
centrosome	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info
cytosol	TAS Traceable Author Statement more info
nuclear membrane	IDA Inferred from Direct Assay more info
nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: centrosomal protein of 70 kDa

Names: centrosomal protein 70kDa; p10-binding protein; testicular tissue protein Li 36

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_001288964.2 → NP_001275893.1 centrosomal protein of 70 kDa isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AK023098, AK301913, BC030598, BF435951

Consensus CDS

CCDS75022.1

UniProtKB/Swiss-Prot

Q8NHQ1

Related

ENSP00000419833.1, ENST00000474781.5

Conserved Domains (1) summary

TIGR02169
Location:67 → 315

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
NM_001288965.2 → NP_001275894.1 centrosomal protein of 70 kDa isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AF202146, AK023098, AK299003, BC030598, BF435951, DN993112

UniProtKB/Swiss-Prot

Q8NHQ1

Conserved Domains (1) summary

TIGR02169
Location:65 → 313

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
NM_001288966.1 → NP_001275895.1 centrosomal protein of 70 kDa isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains a 3' terminal exon that extends past a splice site used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 4 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AF202146, AF289495, AK225440, DC305447, DN993112

Consensus CDS

CCDS75023.1

UniProtKB/Swiss-Prot

Q8NHQ1

Related

ENSP00000417465.1, ENST00000481834.5

Conserved Domains (1) summary

TIGR02169
Location:85 → 477

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
NM_001288967.2 → NP_001275896.1 centrosomal protein of 70 kDa isoform 5

See identical proteins and their annotated locations for NP_001275896.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 5, which is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AK023098, AK294587, BC030598, BF435951, DN993112

Consensus CDS

CCDS75024.1

UniProtKB/Swiss-Prot

Q8NHQ1

UniProtKB/TrEMBL

B7Z2D2

Related

ENSP00000417821.1, ENST00000489254.5

Conserved Domains (1) summary

pfam15254
Location:104 → 177

CCDC14; Coiled-coil domain-containing protein 14
NM_001320598.2 → NP_001307527.1 centrosomal protein of 70 kDa isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1 and 6 encode the same isoform (1).

Source sequence(s)

AC072045, AF202146, AK023098, DC383928

Consensus CDS

CCDS3102.1

UniProtKB/Swiss-Prot

Q8NHQ1

UniProtKB/TrEMBL

A0A140VJG2

Related

ENSP00000419231.1, ENST00000484888.5

Conserved Domains (1) summary

TIGR02169
Location:85 → 477

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
NM_001320599.2 → NP_001307528.1 centrosomal protein of 70 kDa isoform 6

Status: VALIDATED

Description

Transcript Variant: This variant (7) differs in the 3' UTR and 3' coding region, compared to variant 1. The encoded isoform (6) has a longer and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC020890, AC072045

Conserved Domains (1) summary

cl25732
Location:85 → 477

SMC_N; RecF/RecN/SMC N terminal domain
NM_001320600.1 → NP_001307529.1 centrosomal protein of 70 kDa isoform 7

Status: VALIDATED

Description

Transcript Variant: This variant (8) has a shorter 5' UTR, lacks several exons, and its 3'-terminal exon extends past a splice site that is used in variant 1. The encoded isoform (7) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC020890, BC016050

Consensus CDS

CCDS82842.1

UniProtKB/Swiss-Prot

Q8NHQ1

Related

ENSP00000419743.1, ENST00000464035.5

Conserved Domains (1) summary

COG1196
Location:15 → 190

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
NM_024491.4 → NP_077817.2 centrosomal protein of 70 kDa isoform 1

See identical proteins and their annotated locations for NP_077817.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform (1). Variants 1 and 6 encode the same isoform (1).

Source sequence(s)

AF202146, AK023098, BC030598, BF435951

Consensus CDS

CCDS3102.1

UniProtKB/Swiss-Prot

Q8NHQ1

UniProtKB/TrEMBL

A0A140VJG2

Related

ENSP00000264982.3, ENST00000264982.8

Conserved Domains (1) summary

TIGR02169
Location:85 → 477

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p13 Primary Assembly

Range

138494339..138594383 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017007283.1 → XP_016862772.1 centrosomal protein of 70 kDa isoform X11
XM_017007282.2 → XP_016862771.1 centrosomal protein of 70 kDa isoform X11
XM_017007284.1 → XP_016862773.1 centrosomal protein of 70 kDa isoform X11
XM_017007275.1 → XP_016862764.1 centrosomal protein of 70 kDa isoform X4

UniProtKB/Swiss-Prot

Q8NHQ1

UniProtKB/TrEMBL

A0A140VJG2

Conserved Domains (1) summary

TIGR02169
Location:85 → 477

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
XM_024453781.1 → XP_024309549.1 centrosomal protein of 70 kDa isoform X3

Conserved Domains (1) summary

cl25732
Location:85 → 477

SMC_N; RecF/RecN/SMC N terminal domain
XM_017007279.1 → XP_016862768.1 centrosomal protein of 70 kDa isoform X9
XM_017007277.1 → XP_016862766.1 centrosomal protein of 70 kDa isoform X6
XM_017007280.2 → XP_016862769.1 centrosomal protein of 70 kDa isoform X10
XM_017007278.2 → XP_016862767.1 centrosomal protein of 70 kDa isoform X7
XM_017007281.2 → XP_016862770.1 centrosomal protein of 70 kDa isoform X10
XM_017007276.2 → XP_016862765.1 centrosomal protein of 70 kDa isoform X5
XM_017007273.1 → XP_016862762.1 centrosomal protein of 70 kDa isoform X2
XM_017007274.1 → XP_016862763.1 centrosomal protein of 70 kDa isoform X2
XM_017007271.1 → XP_016862760.1 centrosomal protein of 70 kDa isoform X1

Conserved Domains (1) summary

cl25732
Location:85 → 477

SMC_N; RecF/RecN/SMC N terminal domain
XM_024453780.1 → XP_024309548.1 centrosomal protein of 70 kDa isoform X1

Conserved Domains (1) summary

cl25732
Location:85 → 477

SMC_N; RecF/RecN/SMC N terminal domain
XM_017007272.1 → XP_016862761.1 centrosomal protein of 70 kDa isoform X1

Conserved Domains (1) summary

cl25732
Location:85 → 477

SMC_N; RecF/RecN/SMC N terminal domain
XM_011513209.3 → XP_011511511.1 centrosomal protein of 70 kDa isoform X8

Conserved Domains (1) summary

TIGR02169
Location:85 → 333

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type