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    CCDC17 coiled-coil domain containing 17 [ Homo sapiens (human) ]

    Gene ID: 149483, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCDC17provided by HGNC
    Official Full Name
    coiled-coil domain containing 17provided by HGNC
    Primary source
    HGNC:HGNC:26574
    See related
    Ensembl:ENSG00000159588 AllianceGenome:HGNC:26574
    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
    Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lung (RPKM 4.2), bone marrow (RPKM 0.8) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC17 in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (45620044..45624054, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (45492399..45496409, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (46085716..46089726, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46021723-46022469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46022470-46023215 Neighboring gene aldo-keto reductase family 1 member A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 833 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46054000-46054500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46054501-46055001 Neighboring gene MPRA-validated peak199 silencer Neighboring gene nuclear autoantigenic sperm protein Neighboring gene GC-rich promoter binding protein 1 like 1 Neighboring gene ribosomal protein S15a pseudogene 10 Neighboring gene ribosomal protein L7a pseudogene 16

    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. Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets. Mihalič F, et al. Nat Commun, 2023 Sep 13. PMID 37704626, Free PMC Article
    2. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242
    3. A human protein-protein interaction network: a resource for annotating the proteome. Stelzl U, et al. Cell, 2005 Sep 23. PMID 16169070
    4. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053
    5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

    See all (9) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ17921, FLJ33084

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 17

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001114938.3 → NP_001108410.2  coiled-coil domain-containing protein 17 isoform 1

      See identical proteins and their annotated locations for NP_001108410.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK303939, AL355480, BU677500, DC359257
      Consensus CDS
      CCDS44131.2
      UniProtKB/Swiss-Prot
      A1A4Y7, B4DNX7, B4E1Q5, C9J8L2, Q0P683, Q5T629, Q96LX7
      Related
      ENSP00000432172.1, ENST00000528266.6
      Conserved Domains (1) summary
      TIGR01843
      Location:76 → 217
      type_I_hlyD; type I secretion membrane fusion protein, HlyD family

    2. NM_001190182.2 → NP_001177111.1  coiled-coil domain-containing protein 17 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AK298104, AL355480, BU677500
      Consensus CDS
      CCDS53314.1
      UniProtKB/Swiss-Prot
      Q96LX7
      Related
      ENSP00000389415.2, ENST00000421127.6
      Conserved Domains (1) summary
      COG1196
      Location:127 → 308
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      45620044..45624054 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000455.2 → XP_016855944.1  coiled-coil domain-containing protein 17 isoform X9

    2. XM_017000454.2 → XP_016855943.1  coiled-coil domain-containing protein 17 isoform X7

    3. XM_017000451.2 → XP_016855940.1  coiled-coil domain-containing protein 17 isoform X4

    4. XM_017000450.2 → XP_016855939.1  coiled-coil domain-containing protein 17 isoform X2

    5. XM_017000452.2 → XP_016855941.1  coiled-coil domain-containing protein 17 isoform X5

    6. XM_017000453.2 → XP_016855942.1  coiled-coil domain-containing protein 17 isoform X6

    7. XM_011540814.2 → XP_011539116.1  coiled-coil domain-containing protein 17 isoform X3

      Related
      ENST00000491755.5
      Conserved Domains (1) summary
      TIGR02169
      Location:219 → 346
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

    8. XM_011540812.2 → XP_011539114.1  coiled-coil domain-containing protein 17 isoform X1

      Conserved Domains (1) summary
      TIGR02169
      Location:219 → 346
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

    9. XM_017000456.1 → XP_016855945.1  coiled-coil domain-containing protein 17 isoform X9

    10. XM_047447377.1 → XP_047303333.1  coiled-coil domain-containing protein 17 isoform X8

      UniProtKB/TrEMBL
      F2Z395
      Related
      ENSP00000437072.1, ENST00000479529.2

    11. XM_011540820.2 → XP_011539122.1  coiled-coil domain-containing protein 17 isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      45492399..45496409 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334672.1 → XP_054190647.1  coiled-coil domain-containing protein 17 isoform X9

    2. XM_054334670.1 → XP_054190645.1  coiled-coil domain-containing protein 17 isoform X7

    3. XM_054334667.1 → XP_054190642.1  coiled-coil domain-containing protein 17 isoform X4

    4. XM_054334665.1 → XP_054190640.1  coiled-coil domain-containing protein 17 isoform X2

    5. XM_054334668.1 → XP_054190643.1  coiled-coil domain-containing protein 17 isoform X5

    6. XM_054334669.1 → XP_054190644.1  coiled-coil domain-containing protein 17 isoform X6

    7. XM_054334666.1 → XP_054190641.1  coiled-coil domain-containing protein 17 isoform X3

    8. XM_054334664.1 → XP_054190639.1  coiled-coil domain-containing protein 17 isoform X1

    9. XM_054334673.1 → XP_054190648.1  coiled-coil domain-containing protein 17 isoform X9

    10. XM_054334671.1 → XP_054190646.1  coiled-coil domain-containing protein 17 isoform X8

    11. XM_054334674.1 → XP_054190649.1  coiled-coil domain-containing protein 17 isoform X10

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152500.2: Suppressed sequence

      Description
      NM_152500.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LX7.2 GenPept UniProtKB/Swiss-Prot:Q96LX7

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