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    CCDC169 coiled-coil domain containing 169 [ Homo sapiens (human) ]

    Gene ID: 728591, updated on 17-Sep-2024

    Summary

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    Official Symbol
    CCDC169provided by HGNC
    Official Full Name
    coiled-coil domain containing 169provided by HGNC
    Primary source
    HGNC:HGNC:34361
    See related
    Ensembl:ENSG00000242715 AllianceGenome:HGNC:34361
    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
    C13orf38
    Expression
    Restricted expression toward testis (RPKM 22.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC169 in Genome Data Viewer
    Location:
    13q13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (36222004..36297814, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (35441522..35517321, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (36796141..36871951, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984604 Neighboring gene CCDC169-SOHLH2 readthrough Neighboring gene spermatogenesis and oogenesis specific basic helix-loop-helix 2 Neighboring gene MPRA-validated peak2068 silencer Neighboring gene Sharpr-MPRA regulatory region 14903 Neighboring gene RNA, U6 small nuclear 71, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:36871578-36872539 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36872540-36873502 Neighboring gene NANOG hESC enhancer GRCh37_chr13:36887598-36888362 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36890200-36891034 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:36891035-36891868 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:36894061-36894764 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36895467-36896169 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36896170-36896871 Neighboring gene Sharpr-MPRA regulatory region 3304 Neighboring gene spartin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5263 Neighboring gene SPART antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:36962882-36963065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5265 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5266 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:37011626-37012825 Neighboring gene cyclin A1

    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 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 sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    2. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough CCDC169-SOHLH2

    Readthrough gene: CCDC169-SOHLH2, Included gene: SOHLH2

    Homology

    Clone Names

    • FLJ13506, FLJ29024, FLJ57222

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 169
    Names
    RP11-251J8.1

    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_001144981.3 → NP_001138453.1  coiled-coil domain-containing protein 169 isoform a

      See identical proteins and their annotated locations for NP_001138453.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
      Source sequence(s)
      AK308999, DB454585, DN999189
      Consensus CDS
      CCDS45028.1
      UniProtKB/Swiss-Prot
      A6NC13, A6NCT2, A6NNP5, B7ZW45, B7ZW49, B9EJF2, Q9H1T4, Q9H1T5
      Related
      ENSP00000239859.7, ENST00000239859.8
      Conserved Domains (1) summary
      pfam15372
      Location:54 → 181
      DUF4600; Domain of unknown function (DUF4600)

    2. NM_001144982.3 → NP_001138454.1  coiled-coil domain-containing protein 169 isoform b

      See identical proteins and their annotated locations for NP_001138454.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon near the 5' end, uses a downstream start codon, and uses an alternate 3' exon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus and a distinct C-terminus, compared to isoform a. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AA861917, AL139377, AL160392, BC171867, DB454585
      Consensus CDS
      CCDS45027.1
      UniProtKB/Swiss-Prot
      A6NNP5
      Related
      ENSP00000369193.2, ENST00000379864.6
      Conserved Domains (1) summary
      pfam15372
      Location:1 → 79
      DUF4600; Domain of unknown function (DUF4600)

    3. NM_001144983.3 → NP_001138455.1  coiled-coil domain-containing protein 169 isoform b

      See identical proteins and their annotated locations for NP_001138455.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate splice site near the 5' end, uses a downstream start codon, and uses an alternate 3' exon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus and a distinct C-terminus, compared to isoform a. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AA861917, AL139377, AL160392, BC171880, DB454585
      Consensus CDS
      CCDS45027.1
      UniProtKB/Swiss-Prot
      A6NNP5
      Related
      ENSP00000425252.1, ENST00000491049.6
      Conserved Domains (1) summary
      pfam15372
      Location:1 → 79
      DUF4600; Domain of unknown function (DUF4600)

    4. NM_001144984.3 → NP_001138456.1  coiled-coil domain-containing protein 169 isoform c

      See identical proteins and their annotated locations for NP_001138456.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons in the 5' region, uses a downstream start codon, and uses an alternate 3' exon, compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus and a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AA861917, AL139377, AL160392, BC171874, DB454585
      Consensus CDS
      CCDS53863.1
      UniProtKB/Swiss-Prot
      A6NNP5
      Related
      ENSP00000239860.6, ENST00000239860.10
      Conserved Domains (1) summary
      pfam15372
      Location:6 → 81
      DUF4600; Domain of unknown function (DUF4600)

    5. NM_001144985.3 → NP_001138457.1  coiled-coil domain-containing protein 169 isoform d

      See identical proteins and their annotated locations for NP_001138457.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon near the 5' end and uses a downstream start codon, compared to variant 1. The resulting isoform (d) has a shorter N-terminus, compared to isoform a. Variants 5 and 6 encode the same isoform.
      Source sequence(s)
      AK308999
      Consensus CDS
      CCDS45029.1
      UniProtKB/Swiss-Prot
      A6NNP5
      Related
      ENSP00000427495.1, ENST00000510088.5
      Conserved Domains (1) summary
      pfam15372
      Location:1 → 79
      DUF4600; Domain of unknown function (DUF4600)

    6. NM_001144986.3 → NP_001138458.1  coiled-coil domain-containing protein 169 isoform d

      See identical proteins and their annotated locations for NP_001138458.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an alternate exon and uses an alternate splice site near the 5' end, and uses a downstream start codon, compared to variant 1. The resulting isoform (d) has a shorter N-terminus, compared to isoform a. Variants 5 and 6 encode the same isoform.
      Source sequence(s)
      AK308999, BC171880, DB454585
      Consensus CDS
      CCDS45029.1
      UniProtKB/Swiss-Prot
      A6NNP5
      Related
      ENSP00000369191.2, ENST00000379862.6
      Conserved Domains (1) summary
      pfam15372
      Location:1 → 79
      DUF4600; Domain of unknown function (DUF4600)

    7. NM_001198908.2 → NP_001185837.1  coiled-coil domain-containing protein 169 isoform e

      See identical proteins and their annotated locations for NP_001185837.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (e) has a distinct and longer C-terminus, compared to isoform a.
      Source sequence(s)
      AA861917, AL139377, AL160392, BC146975, DB454585
      Consensus CDS
      CCDS55897.1
      UniProtKB/Swiss-Prot
      A6NNP5
      Related
      ENSP00000426174.1, ENST00000503173.5
      Conserved Domains (1) summary
      pfam15372
      Location:54 → 181
      DUF4600; Domain of unknown function (DUF4600)

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      36222004..36297814 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      35441522..35517321 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NNP5.4 GenPept UniProtKB/Swiss-Prot:A6NNP5

    Gene LinkOut

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

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