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

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

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_001144981.3NP_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:54181
      DUF4600; Domain of unknown function (DUF4600)
    2. NM_001144982.3NP_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:179
      DUF4600; Domain of unknown function (DUF4600)
    3. NM_001144983.3NP_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:179
      DUF4600; Domain of unknown function (DUF4600)
    4. NM_001144984.3NP_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:681
      DUF4600; Domain of unknown function (DUF4600)
    5. NM_001144985.3NP_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:179
      DUF4600; Domain of unknown function (DUF4600)
    6. NM_001144986.3NP_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:179
      DUF4600; Domain of unknown function (DUF4600)
    7. NM_001198908.2NP_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:54181
      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)