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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
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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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