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    CCDC175 coiled-coil domain containing 175 [ Homo sapiens (human) ]

    Gene ID: 729665, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CCDC175provided by HGNC
    Official Full Name
    coiled-coil domain containing 175provided by HGNC
    Primary source
    HGNC:HGNC:19847
    See related
    Ensembl:ENSG00000151838 AllianceGenome:HGNC:19847
    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
    C14orf38; c14_5395
    Expression
    Ubiquitous expression in testis (RPKM 3.9), prostate (RPKM 2.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q23.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (59505067..59576812, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (53712016..53783773, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (59971785..60043530, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8461 Neighboring gene uncharacterized LOC124903326 Neighboring gene G protein-coupled receptor 135 Neighboring gene trans-L-3-hydroxyproline dehydratase Neighboring gene JNK1/MAPK8 associated membrane protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:60124167-60124668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:60124669-60125168 Neighboring gene reticulon 1 Neighboring gene microRNA 5586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5807 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:60386022-60387221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8464 Neighboring gene leucine rich repeat containing 9 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:60459076-60459307 Neighboring gene PCNX4 divergent transcript

    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. The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment. Donato L, et al. PLoS One, 2022. PMID 36490268, Free PMC Article
    2. The DNA sequence and analysis of human chromosome 14. Heilig R, et al. Nature, 2003 Feb 6. PMID 12508121
    3. Systematic proteomics of endogenous human cohesin reveals an interaction with diverse splicing factors and RNA-binding proteins required for mitotic progression. Kim JS, et al. J Biol Chem, 2019 May 31. PMID 31010829, Free PMC Article
    4. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, et al. Nat Cell Biol, 2020 Sep. PMID 32807901
    5. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
      Title: The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 175

    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_001164399.2 → NP_001157871.1  coiled-coil domain-containing protein 175

      See identical proteins and their annotated locations for NP_001157871.1

      Status: VALIDATED

      Source sequence(s)
      AL121694
      Consensus CDS
      CCDS53898.1
      UniProtKB/Swiss-Prot
      G3V5J7, P0C221
      UniProtKB/TrEMBL
      A0A0A0MTQ8
      Related
      ENSP00000453940.1, ENST00000537690.7
      Conserved Domains (1) summary
      TIGR02168
      Location:80 → 737
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      59505067..59576812 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537124.4 → XP_011535426.1  coiled-coil domain-containing protein 175 isoform X3

      Conserved Domains (2) summary
      COG1196
      Location:334 → 621
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:66 → 344
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    2. XM_011537122.4 → XP_011535424.1  coiled-coil domain-containing protein 175 isoform X2

      UniProtKB/TrEMBL
      A0A0A0MTQ8
      Conserved Domains (1) summary
      TIGR02168
      Location:66 → 344
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    3. XM_011537120.4 → XP_011535422.1  coiled-coil domain-containing protein 175 isoform X1

      UniProtKB/TrEMBL
      A0A0A0MTQ8
      Conserved Domains (1) summary
      TIGR02168
      Location:66 → 738
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    4. XM_047431746.1 → XP_047287702.1  coiled-coil domain-containing protein 175 isoform X5

    5. XM_047431747.1 → XP_047287703.1  coiled-coil domain-containing protein 175 isoform X5

    6. XM_047431749.1 → XP_047287705.1  coiled-coil domain-containing protein 175 isoform X7

    7. XM_047431748.1 → XP_047287704.1  coiled-coil domain-containing protein 175 isoform X6

    8. XM_011537125.3 → XP_011535427.1  coiled-coil domain-containing protein 175 isoform X4

      Conserved Domains (1) summary
      TIGR02168
      Location:66 → 592
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    9. XM_047431750.1 → XP_047287706.1  coiled-coil domain-containing protein 175 isoform X8

    10. XM_011537130.3 → XP_011535432.1  coiled-coil domain-containing protein 175 isoform X9

      Conserved Domains (1) summary
      cl25732
      Location:66 → 344
      SMC_N; RecF/RecN/SMC N terminal domain

    11. XM_047431751.1 → XP_047287707.1  coiled-coil domain-containing protein 175 isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      53712016..53783773 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376681.1 → XP_054232656.1  coiled-coil domain-containing protein 175 isoform X3

    2. XM_054376680.1 → XP_054232655.1  coiled-coil domain-containing protein 175 isoform X2

    3. XM_054376679.1 → XP_054232654.1  coiled-coil domain-containing protein 175 isoform X1

    4. XM_054376683.1 → XP_054232658.1  coiled-coil domain-containing protein 175 isoform X5

    5. XM_054376684.1 → XP_054232659.1  coiled-coil domain-containing protein 175 isoform X5

    6. XM_054376686.1 → XP_054232661.1  coiled-coil domain-containing protein 175 isoform X7

    7. XM_054376685.1 → XP_054232660.1  coiled-coil domain-containing protein 175 isoform X6

    8. XM_054376682.1 → XP_054232657.1  coiled-coil domain-containing protein 175 isoform X4

    9. XM_054376687.1 → XP_054232662.1  coiled-coil domain-containing protein 175 isoform X8

    10. XM_054376688.1 → XP_054232663.1  coiled-coil domain-containing protein 175 isoform X9

    11. XM_054376689.1 → XP_054232664.1  coiled-coil domain-containing protein 175 isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C221.2 GenPept UniProtKB/Swiss-Prot:P0C221

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