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    CCDC120 coiled-coil domain containing 120 [ Homo sapiens (human) ]

    Gene ID: 90060, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC120provided by HGNC
    Official Full Name
    coiled-coil domain containing 120provided by HGNC
    Primary source
    HGNC:HGNC:28910
    See related
    Ensembl:ENSG00000147144 MIM:300947; AllianceGenome:HGNC:28910
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JM11
    Summary
    This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
    Expression
    Ubiquitous expression in skin (RPKM 6.3), esophagus (RPKM 4.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC120 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (49053572..49069858)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48465178..48481578)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48911101..48927510)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene GRIP1 associated protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:48840212-48840468 Neighboring gene Sharpr-MPRA regulatory region 9113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29627 Neighboring gene CRISPRi-FlowFISH-validated HDAC6 regulatory element 4 Neighboring gene Sharpr-MPRA regulatory region 2669 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48900209-48901072 Neighboring gene transcription factor binding to IGHM enhancer 3 Neighboring gene CRISPRi-FlowFISH-validated PQBP1 regulatory element 4 Neighboring gene Sharpr-MPRA regulatory region 13918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20834 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:48934848-48936047 Neighboring gene Sharpr-MPRA regulatory region 1999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20835 Neighboring gene PRA1 domain family member 2 Neighboring gene WD repeat domain 45 Neighboring gene RNA, U4 small nuclear 52, pseudogene

    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. Arf6 guanine nucleotide exchange factor cytohesin-2 binds to CCDC120 and is transported along neurites to mediate neurite growth. Torii T, et al. J Biol Chem, 2014 Dec 5. PMID 25326380, Free PMC Article
    2. Hierarchical assembly of centriole subdistal appendages via centrosome binding proteins CCDC120 and CCDC68. Huang N, et al. Nat Commun, 2017 Apr 19. PMID 28422092, Free PMC Article
    3. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Tarpey PS, et al. Nat Genet, 2009 May. PMID 19377476, Free PMC Article
    4. Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage. Hill SJ, et al. Genes Dev, 2014 Sep 1. PMID 25184681, Free PMC Article
    5. The Eyes Absent family members EYA4 and EYA1 promote PLK1 activation and successful mitosis through tyrosine dephosphorylation. Nelson CB, et al. Nat Commun, 2024 Feb 15. PMID 38360978, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. centrosome-binding proteins, coiled-coil domain containing (CCDC) 120 and CCDC68 are two novel subdistal appendages (SDA) components required for hierarchical SDA assembly in human cells.
      Title: Hierarchical assembly of centriole subdistal appendages via centrosome binding proteins CCDC120 and CCDC68.
    2. Arf6 guanine nucleotide exchange factor cytohesin-2 binds to CCDC120 and is transported along neurites to mediate neurite growth.
      Title: Arf6 guanine nucleotide exchange factor cytohesin-2 binds to CCDC120 and is transported along neurites to mediate neurite growth.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 microtubule anchoring at centrosome IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in microtubule anchoring at centrosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of centriolar subdistal appendage IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 120

    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.

    Genomic

    1. NG_016255.2 RefSeqGene

      Range
      10537..21550
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001163321.4 → NP_001156793.2  coiled-coil domain-containing protein 120 isoform 1

      See identical proteins and their annotated locations for NP_001156793.2

      Status: REVIEWED

      Source sequence(s)
      AC231657
      Consensus CDS
      CCDS55414.2
      UniProtKB/Swiss-Prot
      Q96HB5
      Related
      ENSP00000474071.1, ENST00000603986.6
      Conserved Domains (1) summary
      pfam11819
      Location:43 → 176
      DUF3338; Domain of unknown function (DUF3338)

    2. NM_001163322.2 → NP_001156794.1  coiled-coil domain-containing protein 120 isoform 2

      See identical proteins and their annotated locations for NP_001156794.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) is shorter at the N-terminus and missing a 12 aa internal segment compared to isoform 1.
      Source sequence(s)
      AK293898, BC008769, DA102343
      UniProtKB/Swiss-Prot
      Q96HB5
      Related
      ENSP00000474713.2, ENST00000603906.2
      Conserved Domains (1) summary
      pfam11819
      Location:6 → 129
      DUF3338; Domain of unknown function (DUF3338)

    3. NM_001163323.3 → NP_001156795.1  coiled-coil domain-containing protein 120 isoform 4

      See identical proteins and their annotated locations for NP_001156795.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence, lacks an alternate in-frame segment, and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus, missing a 12 aa internal segment, and has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK300366, BC008769, DA102343
      Consensus CDS
      CCDS55413.1
      UniProtKB/Swiss-Prot
      Q96HB5
      Related
      ENSP00000443351.1, ENST00000536628.3
      Conserved Domains (1) summary
      pfam11819
      Location:6 → 129
      DUF3338; Domain of unknown function (DUF3338)

    4. NM_001271835.1 → NP_001258764.1  coiled-coil domain-containing protein 120 isoform 3

      See identical proteins and their annotated locations for NP_001258764.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 1. Variants 3, 5, and 6 all encode the same isoform (3).
      Source sequence(s)
      AK315837, BC008769, DA102343
      Consensus CDS
      CCDS14316.1
      UniProtKB/Swiss-Prot
      A8K5Q5, B4DF24, B4DFC1, B4DTU2, F5GZU4, Q96HB5
      Related
      ENSP00000474761.1, ENST00000496529.6
      Conserved Domains (1) summary
      pfam11819
      Location:2 → 140
      DUF3338; Domain of unknown function (DUF3338)

    5. NM_001271836.2 → NP_001258765.1  coiled-coil domain-containing protein 120 isoform 3

      See identical proteins and their annotated locations for NP_001258765.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 1. Variants 3, 5, and 6 all encode the same isoform (3).
      Source sequence(s)
      AK291370, BC008769
      Consensus CDS
      CCDS14316.1
      UniProtKB/Swiss-Prot
      A8K5Q5, B4DF24, B4DFC1, B4DTU2, F5GZU4, Q96HB5
      Related
      ENSP00000470294.1, ENST00000597275.5
      Conserved Domains (1) summary
      pfam11819
      Location:2 → 140
      DUF3338; Domain of unknown function (DUF3338)

    6. NM_033626.3 → NP_296375.1  coiled-coil domain-containing protein 120 isoform 3

      See identical proteins and their annotated locations for NP_296375.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 1. Variants 3, 5, and 6 all encode the same isoform (3).
      Source sequence(s)
      BC008769, DA102343
      Consensus CDS
      CCDS14316.1
      UniProtKB/Swiss-Prot
      A8K5Q5, B4DF24, B4DFC1, B4DTU2, F5GZU4, Q96HB5
      Related
      ENSP00000475676.1, ENST00000606812.5
      Conserved Domains (1) summary
      pfam11819
      Location:2 → 140
      DUF3338; Domain of unknown function (DUF3338)

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      49053572..49069858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791820.1 Reference GRCh38.p14 PATCHES

      Range
      212407..228809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      48465178..48481578
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HB5.1 GenPept UniProtKB/Swiss-Prot:Q96HB5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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