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    CEP70 centrosomal protein 70 [ Homo sapiens (human) ]

    Gene ID: 80321, updated on 9-Dec-2024

    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; 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, Dec 2024]
    Expression
    Broad expression in testis (RPKM 11.4), duodenum (RPKM 7.8) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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

    Preferred Names
    centrosomal protein of 70 kDa
    Names
    centrosomal protein 70kDa
    p10-binding protein
    testicular tissue protein Li 36

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001288964.2NP_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:67315
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    2. NM_001288965.2NP_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:65313
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    3. NM_001288966.2NP_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:85477
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    4. NM_001288967.2NP_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:104177
      CCDC14; Coiled-coil domain-containing protein 14
    5. NM_001320598.2NP_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:85477
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    6. NM_001320599.2NP_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:85477
      SMC_N; RecF/RecN/SMC N terminal domain
    7. NM_001320600.1NP_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:15190
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    8. NM_024491.4NP_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:85477
      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_047449023.1XP_047304979.1  centrosomal protein of 70 kDa isoform X10

      UniProtKB/TrEMBL
      B7Z2D2
    2. XM_047449020.1XP_047304976.1  centrosomal protein of 70 kDa isoform X5

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

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

    5. XM_024453781.2XP_024309549.1  centrosomal protein of 70 kDa isoform X3

      Conserved Domains (1) summary
      cl25732
      Location:85477
      SMC_N; RecF/RecN/SMC N terminal domain
    6. XM_047449025.1XP_047304981.1  centrosomal protein of 70 kDa isoform X13

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

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

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

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

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

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

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

    14. XM_017007271.2XP_016862760.1  centrosomal protein of 70 kDa isoform X1

      Conserved Domains (1) summary
      cl25732
      Location:85477
      SMC_N; RecF/RecN/SMC N terminal domain
    15. XM_024453780.2XP_024309548.1  centrosomal protein of 70 kDa isoform X1

      Conserved Domains (1) summary
      cl25732
      Location:85477
      SMC_N; RecF/RecN/SMC N terminal domain
    16. XM_047449017.1XP_047304973.1  centrosomal protein of 70 kDa isoform X1

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

      Conserved Domains (1) summary
      TIGR02169
      Location:85333
      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_054348008.1XP_054203983.1  centrosomal protein of 70 kDa isoform X5

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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