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    CEP70 centrosomal protein 70 [ Homo sapiens (human) ]

    Gene ID: 80321, updated on 7-Apr-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, Apr 2022]
    Expression
    Broad expression in testis (RPKM 11.4), duodenum (RPKM 7.8) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q22.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138494344..138594260, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (141234912..141334894, complement)
    105.20220307 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
    • 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. Identification of biallelic variations of CEP70 in patients with male infertility. Ruan T, et al. Front Endocrinol (Lausanne), 2023. PMID 36967801, Free PMC Article
    2. Centrosomal Protein 70 Is a Mediator of Paclitaxel Sensitivity. Shi X, et al. Int J Mol Sci, 2017 Jun 20. PMID 28632150, Free PMC Article
    3. 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
    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. Cep70 promotes microtubule assembly in vitro by increasing microtubule elongation. Shi X, et al. Acta Biochim Biophys Sin (Shanghai), 2012 May. PMID 22427462

    See all (48) 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 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
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    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_2023_10

    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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