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    CCDC107 coiled-coil domain containing 107 [ Homo sapiens (human) ]

    Gene ID: 203260, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCDC107provided by HGNC
    Official Full Name
    coiled-coil domain containing 107provided by HGNC
    Primary source
    HGNC:HGNC:28465
    See related
    Ensembl:ENSG00000159884 AllianceGenome:HGNC:28465
    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
    PSEC0222
    Summary
    This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in fat (RPKM 29.1), adrenal (RPKM 11.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC107 in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35658292..35661511)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35678944..35682163)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35658289..35661508)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19870 Neighboring gene signaling threshold regulating transmembrane adaptor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35657053-35657561 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35657562-35658069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19871 Neighboring gene Rho guanine nucleotide exchange factor 39 Neighboring gene RNA component of mitochondrial RNA processing endoribonuclease Neighboring gene Sharpr-MPRA regulatory region 3743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19872 Neighboring gene RNA, 7SL, cytoplasmic 22, pseudogene Neighboring gene carbonic anhydrase 9

    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. Differential expression analysis of CCDC107 and RMRP lncRNA as potential biomarkers in colorectal cancer diagnosis. Ghanizade P, et al. Nucleosides Nucleotides Nucleic Acids, 2021. PMID 34669559
    2. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    3. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Lim J, et al. Cell, 2006 May 19. PMID 16713569
    4. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. Faust TB, et al. Elife, 2018 May 30. PMID 29845934, Free PMC Article
    5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Differential expression analysis of CCDC107 and RMRP lncRNA as potential biomarkers in colorectal cancer diagnosis.
      Title: Differential expression analysis of CCDC107 and RMRP lncRNA as potential biomarkers in colorectal cancer diagnosis.
    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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    Homology

    Clone Names

    • FLJ97171, MGC31967

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 107

    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_033120.1 RefSeqGene

      Range
      5003..8222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195200.2 → NP_001182129.1  coiled-coil domain-containing protein 107 isoform B precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) lacks an in-frame segment in the 3' coding region, compared to variant A. This results in a shorter protein (isoform B), compared to isoform A.
      Source sequence(s)
      AL357874, BE903559, BM973388, DC410699
      Consensus CDS
      CCDS56573.1
      UniProtKB/Swiss-Prot
      Q8WV48
      Related
      ENSP00000367665.3, ENST00000378409.7

    2. NM_001195201.2 → NP_001182130.1  coiled-coil domain-containing protein 107 isoform C precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (C) uses an alternate splice site and lacks an in-frame segment in the 3' region, compared to variant A. The usage of the alternate splice site results in a frameshift, and the encoded isoform (C) has a shorter and distinct C-terminus, compared to isoform A.
      Source sequence(s)
      AL357874, BC051285, BM973388, DC410699
      Consensus CDS
      CCDS56574.1
      UniProtKB/TrEMBL
      X6R9Y9
      Related
      ENSP00000330327.2, ENST00000327351.6

    3. NM_001195217.2 → NP_001182146.1  coiled-coil domain-containing protein 107 isoform D precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (D) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant A. It encodes isoform D, which has a shorter and distinct C-terminus, compared to isoform A.
      Source sequence(s)
      AK075523, AL357874, BM973388, DC410699
      Consensus CDS
      CCDS56575.1
      UniProtKB/TrEMBL
      X6R9Y9
      Related
      ENSP00000367662.3, ENST00000378407.7

    4. NM_174923.3 → NP_777583.2  coiled-coil domain-containing protein 107 isoform A precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) represents the longest transcript and encodes the longest isoform (A).
      Source sequence(s)
      AL357874, BC018758, BM973388, DC410699
      Consensus CDS
      CCDS6583.1
      UniProtKB/Swiss-Prot
      A6XND6, Q5T4R5, Q5T4R8, Q5T4R9, Q86VB6, Q8N2E4, Q8WV48
      Related
      ENSP00000414964.2, ENST00000426546.7

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      35658292..35661511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251403.6 → XP_005251460.1  coiled-coil domain-containing protein 107 isoform X1

      UniProtKB/TrEMBL
      X6R9Y9
      Related
      ENSP00000367661.1, ENST00000378406.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      35678944..35682163
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362299.1 → XP_054218274.1  coiled-coil domain-containing protein 107 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WV48.2 GenPept UniProtKB/Swiss-Prot:Q8WV48

    Gene LinkOut

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

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