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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
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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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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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