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    CCDC14 coiled-coil domain containing 14 [ Homo sapiens (human) ]

    Gene ID: 64770, updated on 7-Apr-2024

    Summary

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    Official Symbol
    CCDC14provided by HGNC
    Official Full Name
    coiled-coil domain containing 14provided by HGNC
    Primary source
    HGNC:HGNC:25766
    See related
    Ensembl:ENSG00000175455 MIM:617147; AllianceGenome:HGNC:25766
    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
    Summary
    Involved in protein localization to centrosome. Located in centriolar satellite. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 10.7), bone marrow (RPKM 8.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q21.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (123885176..123961229, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (126611315..126687354, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (123632269..123680076, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369194 Neighboring gene myosin light chain kinase Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:123511339-123512538 Neighboring gene Sharpr-MPRA regulatory region 10510 Neighboring gene small nucleolar RNA SNORA5 Neighboring gene MPRA-validated peak4802 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14650 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:123680084-123680394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123699087-123699586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123710743-123711259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14651 Neighboring gene rhophilin associated tail protein 1 Neighboring gene kalirin RhoGEF kinase Neighboring gene microRNA 5002

    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. Binding of OTULIN to the PUB domain of HOIP controls NF-κB signaling. Schaeffer V, et al. Mol Cell, 2014 May 8. PMID 24726327
    2. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. Kodani A, et al. Elife, 2015 Aug 22. PMID 26297806, Free PMC Article
    3. Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly. Rodriguez-Calado S, et al. Int J Mol Sci, 2023 Jan 9. PMID 36674791, Free PMC Article
    4. Quantitative proteomic analysis of human substantia nigra in Alzheimer's disease, Huntington's disease and Multiple sclerosis. Chen S, et al. Neurochem Res, 2012 Dec. PMID 22926577
    5. Scanning the human proteome for calmodulin-binding proteins. Shen X, et al. Proc Natl Acad Sci U S A, 2005 Apr 26. PMID 15840729, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12892, FLJ41065, DKFZp434L1050

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein localization to centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to centrosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in substantia nigra development HEP 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 cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 14

    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_001308317.2 → NP_001295246.1  coiled-coil domain-containing protein 14 isoform 2

      See identical proteins and their annotated locations for NP_001295246.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a 5' exon and contains an alternate 5' exon, compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG to encode an isoform (2) that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC117381, AL122079, BC040285
      Consensus CDS
      CCDS77806.1
      UniProtKB/Swiss-Prot
      Q49A88
      Conserved Domains (1) summary
      pfam15254
      Location:1 → 753
      CCDC14; Coiled-coil domain-containing protein 14

    2. NM_001366335.1 → NP_001353264.1  coiled-coil domain-containing protein 14 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC117381
      Consensus CDS
      CCDS93358.1
      UniProtKB/Swiss-Prot
      B7Z2Q3, B7Z2T2, B8ZZ41, B8ZZ58, D3DN98, Q49A88, Q7Z3N3, Q86T30, Q8IWF8, Q8WUJ8, Q96K47, Q9H9A3, Q9UFH0
      UniProtKB/TrEMBL
      J3QT39
      Related
      ENSP00000386866.4, ENST00000409697.8
      Conserved Domains (1) summary
      pfam15254
      Location:49 → 905
      CCDC14; Coiled-coil domain-containing protein 14

    3. NM_001366336.1 → NP_001353265.1  coiled-coil domain-containing protein 14 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC117381
      Consensus CDS
      CCDS77806.1
      Conserved Domains (1) summary
      pfam15254
      Location:1 → 753
      CCDC14; Coiled-coil domain-containing protein 14

    4. NM_001366337.1 → NP_001353266.1  coiled-coil domain-containing protein 14 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC117381
      Consensus CDS
      CCDS77806.1
      Conserved Domains (1) summary
      pfam15254
      Location:1 → 753
      CCDC14; Coiled-coil domain-containing protein 14

    5. NM_001366338.1 → NP_001353267.1  coiled-coil domain-containing protein 14 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC117381
      Conserved Domains (1) summary
      pfam15254
      Location:1 → 610
      CCDC14; Coiled-coil domain-containing protein 14

    6. NM_001366339.1 → NP_001353268.1  coiled-coil domain-containing protein 14 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC117381
      UniProtKB/Swiss-Prot
      B7Z2Q3, B7Z2T2, B8ZZ41, B8ZZ58, D3DN98, Q49A88, Q7Z3N3, Q86T30, Q8IWF8, Q8WUJ8, Q96K47, Q9H9A3, Q9UFH0
      Conserved Domains (1) summary
      pfam15254
      Location:5 → 792
      CCDC14; Coiled-coil domain-containing protein 14

    7. NM_022757.5 → NP_073594.5  coiled-coil domain-containing protein 14 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AA743688, AI435151, AK307847, BG621278, BP382977, CN424790, DA031063, DB037501, DB306263
      Consensus CDS
      CCDS3025.3
      UniProtKB/Swiss-Prot
      B7Z2Q3, B7Z2T2, B8ZZ41, B8ZZ58, D3DN98, Q49A88, Q7Z3N3, Q86T30, Q8IWF8, Q8WUJ8, Q96K47, Q9H9A3, Q9UFH0
      UniProtKB/TrEMBL
      A0A0A0MR27
      Related
      ENSP00000420180.3, ENST00000488653.6
      Conserved Domains (1) summary
      pfam15254
      Location:49 → 864
      CCDC14; Coiled-coil domain-containing protein 14

    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
      123885176..123961229 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513081.3 → XP_011511383.2  coiled-coil domain-containing protein 14 isoform X8

    2. XM_047448748.1 → XP_047304704.1  coiled-coil domain-containing protein 14 isoform X9

    3. XM_005247715.5 → XP_005247772.2  coiled-coil domain-containing protein 14 isoform X7

    4. XM_005247713.3 → XP_005247770.1  coiled-coil domain-containing protein 14 isoform X11

      See identical proteins and their annotated locations for XP_005247770.1

      UniProtKB/Swiss-Prot
      Q49A88
      Related
      ENSP00000418403.1, ENST00000489746.5
      Conserved Domains (1) summary
      pfam15254
      Location:1 → 753
      CCDC14; Coiled-coil domain-containing protein 14

    5. XM_047448746.1 → XP_047304702.1  coiled-coil domain-containing protein 14 isoform X5

    6. XM_047448745.1 → XP_047304701.1  coiled-coil domain-containing protein 14 isoform X5

    7. XM_047448744.1 → XP_047304700.1  coiled-coil domain-containing protein 14 isoform X5

    8. XM_047448739.1 → XP_047304695.1  coiled-coil domain-containing protein 14 isoform X4

    9. XM_047448738.1 → XP_047304694.1  coiled-coil domain-containing protein 14 isoform X3

    10. XM_006713733.4 → XP_006713796.2  coiled-coil domain-containing protein 14 isoform X10

    11. XM_005247711.5 → XP_005247768.2  coiled-coil domain-containing protein 14 isoform X2

    12. XM_005247716.5 → XP_005247773.2  coiled-coil domain-containing protein 14 isoform X14

    13. XM_006713731.4 → XP_006713794.2  coiled-coil domain-containing protein 14 isoform X1

    14. XM_047448747.1 → XP_047304703.1  coiled-coil domain-containing protein 14 isoform X6

    15. XM_047448743.1 → XP_047304699.1  coiled-coil domain-containing protein 14 isoform X5

    16. XM_047448742.1 → XP_047304698.1  coiled-coil domain-containing protein 14 isoform X5

    17. XM_047448741.1 → XP_047304697.1  coiled-coil domain-containing protein 14 isoform X5

    18. XM_047448750.1 → XP_047304706.1  coiled-coil domain-containing protein 14 isoform X13

    19. XM_047448749.1 → XP_047304705.1  coiled-coil domain-containing protein 14 isoform X12

    20. XM_047448740.1 → XP_047304696.1  coiled-coil domain-containing protein 14 isoform X5

    21. XM_047448751.1 → XP_047304707.1  coiled-coil domain-containing protein 14 isoform X15

    RNA

    1. XR_007095720.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      126611315..126687354 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347584.1 → XP_054203559.1  coiled-coil domain-containing protein 14 isoform X8

    2. XM_054347585.1 → XP_054203560.1  coiled-coil domain-containing protein 14 isoform X9

    3. XM_054347583.1 → XP_054203558.1  coiled-coil domain-containing protein 14 isoform X7

    4. XM_054347587.1 → XP_054203562.1  coiled-coil domain-containing protein 14 isoform X11

    5. XM_054347581.1 → XP_054203556.1  coiled-coil domain-containing protein 14 isoform X5

    6. XM_054347580.1 → XP_054203555.1  coiled-coil domain-containing protein 14 isoform X5

    7. XM_054347579.1 → XP_054203554.1  coiled-coil domain-containing protein 14 isoform X5

    8. XM_054347577.1 → XP_054203552.1  coiled-coil domain-containing protein 14 isoform X4

    9. XM_054347576.1 → XP_054203551.1  coiled-coil domain-containing protein 14 isoform X3

    10. XM_054347586.1 → XP_054203561.1  coiled-coil domain-containing protein 14 isoform X10

    11. XM_054347575.1 → XP_054203550.1  coiled-coil domain-containing protein 14 isoform X2

    12. XM_054347589.1 → XP_054203564.1  coiled-coil domain-containing protein 14 isoform X14

    13. XM_054347574.1 → XP_054203549.1  coiled-coil domain-containing protein 14 isoform X1

    14. XM_054347582.1 → XP_054203557.1  coiled-coil domain-containing protein 14 isoform X6

    15. XM_054347588.1 → XP_054203563.1  coiled-coil domain-containing protein 14 isoform X13

    16. XM_054347578.1 → XP_054203553.1  coiled-coil domain-containing protein 14 isoform X5

    17. XM_054347590.1 → XP_054203565.1  coiled-coil domain-containing protein 14 isoform X15

    RNA

    1. XR_008486777.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q49A88.3 GenPept UniProtKB/Swiss-Prot:Q49A88

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