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CEP70 centrosomal protein 70 [ Homo sapiens (human) ]

Gene ID: 80321, updated on 3-Nov-2024

Summary

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Official Symbol
CEP70provided by HGNC
Official Full Name
centrosomal protein 70provided by HGNC
Primary source
HGNC:HGNC:29972
See related
Ensembl:ENSG00000114107 MIM:614310; AllianceGenome:HGNC:29972
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
Summary
Enables identical protein binding activity. Predicted to be involved in cilium assembly and regulation of microtubule cytoskeleton organization. Located in centrosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 11.4), duodenum (RPKM 7.8) and 22 other tissues See more
Orthologs
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Genomic context

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See CEP70 in Genome Data Viewer
Location:
3q22.3
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138494344..138594260, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (141234912..141334894, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (138213186..138313102, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:138066933-138067888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138078932-138079766 Neighboring gene MPRA-validated peak4844 silencer Neighboring gene muscle RAS oncogene homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138131466-138131966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138131967-138132467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138158533-138159312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:138159313-138160093 Neighboring gene extended synaptotagmin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20604 Neighboring gene Fas apoptotic inhibitory molecule Neighboring gene peptidylprolyl isomerase A pseudogene 72

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Cep70 promotes microtubule assembly in vitro by increasing microtubule elongation. Shi X, et al. Acta Biochim Biophys Sin (Shanghai), 2012 May. PMID 22427462
  2. BiTE secretion by adoptively transferred stem-like T cells improves FRα+ ovarian cancer control. McGray AJR, et al. J Immunother Cancer, 2023 Jun. PMID 37647218, Free PMC Article
  3. Identification of biallelic variations of CEP70 in patients with male infertility. Ruan T, et al. Front Endocrinol (Lausanne), 2023. PMID 36967801, Free PMC Article
  4. Cep70 overexpression stimulates pancreatic cancer by inducing centrosome abnormality and microtubule disorganization. Xie S, et al. Sci Rep, 2016 Feb 19. PMID 26893288, Free PMC Article
  5. Discovery of Centrosomal Protein 70 as an Important Player in the Development and Progression of Breast Cancer. Shi X, et al. Am J Pathol, 2017 Mar. PMID 28063737

See all (56) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Interactome Analysis Reveals a Link of the Novel ALMS1-CEP70 Complex to Centrosomal Clusters.
    Title: Interactome Analysis Reveals a Link of the Novel ALMS1-CEP70 Complex to Centrosomal Clusters.
  2. BiTE secretion by adoptively transferred stem-like T cells improves FRalpha+ ovarian cancer control.
    Title: BiTE secretion by adoptively transferred stem-like T cells improves FRα+ ovarian cancer control.
  3. Identification of biallelic variations of CEP70 in patients with male infertility.
    Title: Identification of biallelic variations of CEP70 in patients with male infertility.
  4. Loss of CEP70 function affects acrosome biogenesis and flagella formation during spermiogenesis.
    Title: Loss of CEP70 function affects acrosome biogenesis and flagella formation during spermiogenesis.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ13036

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables gamma-tubulin binding IEA
Inferred from Electronic Annotation
more info
  
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 cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of microtubule cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
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)

  1. 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

  2. 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

  3. NM_001288966.2 → 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, 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

  4. 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/TrEMBL
    B7Z2D2
    Related
    ENSP00000417821.1, ENST00000489254.5
    Conserved Domains (1) summary
    pfam15254
    Location:104 → 177
    CCDC14; Coiled-coil domain-containing protein 14

  5. 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
    B7Z5I8, B7Z7E8, D3DNE9, F5GZX8, Q8NHQ1, Q96B31, Q9H2C3, Q9H2Z1, Q9H940
    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

  6. 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

  7. 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/TrEMBL
    B7Z3H3
    Related
    ENSP00000419743.1, ENST00000464035.5
    Conserved Domains (1) summary
    COG1196
    Location:15 → 190
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  8. 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
    B7Z5I8, B7Z7E8, D3DNE9, F5GZX8, Q8NHQ1, Q96B31, Q9H2C3, Q9H2Z1, Q9H940
    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: 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

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    138494344..138594260 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449023.1 → XP_047304979.1  centrosomal protein of 70 kDa isoform X10

    UniProtKB/TrEMBL
    B7Z2D2

  2. XM_047449020.1 → XP_047304976.1  centrosomal protein of 70 kDa isoform X5

  3. XM_047449022.1 → XP_047304978.1  centrosomal protein of 70 kDa isoform X9

  4. XM_047449019.1 → XP_047304975.1  centrosomal protein of 70 kDa isoform X4

  5. XM_024453781.2 → 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

  6. XM_047449025.1 → XP_047304981.1  centrosomal protein of 70 kDa isoform X13

  7. XM_047449024.1 → XP_047304980.1  centrosomal protein of 70 kDa isoform X12

  8. XM_017007281.3 → XP_016862770.1  centrosomal protein of 70 kDa isoform X13

  9. XM_017007277.2 → XP_016862766.1  centrosomal protein of 70 kDa isoform X7

  10. XM_047449021.1 → XP_047304977.1  centrosomal protein of 70 kDa isoform X8

  11. XM_017007276.3 → XP_016862765.1  centrosomal protein of 70 kDa isoform X6

  12. XM_017007273.2 → XP_016862762.1  centrosomal protein of 70 kDa isoform X2

  13. XM_017007274.2 → XP_016862763.1  centrosomal protein of 70 kDa isoform X2

  14. XM_017007271.2 → 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

  15. XM_024453780.2 → 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

  16. XM_047449017.1 → XP_047304973.1  centrosomal protein of 70 kDa isoform X1

  17. XM_011513209.4 → XP_011511511.1  centrosomal protein of 70 kDa isoform X11

    Conserved Domains (1) summary
    TIGR02169
    Location:85 → 333
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    141234912..141334894 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348008.1 → XP_054203983.1  centrosomal protein of 70 kDa isoform X5

  2. XM_054348013.1 → XP_054203988.1  centrosomal protein of 70 kDa isoform X10

  3. XM_054348012.1 → XP_054203987.1  centrosomal protein of 70 kDa isoform X9

  4. XM_054348007.1 → XP_054203982.1  centrosomal protein of 70 kDa isoform X4

  5. XM_054348006.1 → XP_054203981.1  centrosomal protein of 70 kDa isoform X3

  6. XM_054348016.1 → XP_054203991.1  centrosomal protein of 70 kDa isoform X13

  7. XM_054348015.1 → XP_054203990.1  centrosomal protein of 70 kDa isoform X12

  8. XM_054348017.1 → XP_054203992.1  centrosomal protein of 70 kDa isoform X13

  9. XM_054348010.1 → XP_054203985.1  centrosomal protein of 70 kDa isoform X7

  10. XM_054348011.1 → XP_054203986.1  centrosomal protein of 70 kDa isoform X8

  11. XM_054348009.1 → XP_054203984.1  centrosomal protein of 70 kDa isoform X6

  12. XM_054348005.1 → XP_054203980.1  centrosomal protein of 70 kDa isoform X2

  13. XM_054348004.1 → XP_054203979.1  centrosomal protein of 70 kDa isoform X2

  14. XM_054348002.1 → XP_054203977.1  centrosomal protein of 70 kDa isoform X1

  15. XM_054348001.1 → XP_054203976.1  centrosomal protein of 70 kDa isoform X1

  16. XM_054348003.1 → XP_054203978.1  centrosomal protein of 70 kDa isoform X1

  17. XM_054348014.1 → XP_054203989.1  centrosomal protein of 70 kDa isoform X11

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NHQ1.2 GenPept UniProtKB/Swiss-Prot:Q8NHQ1

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