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    CCDC30 coiled-coil domain containing 30 [ Homo sapiens (human) ]

    Gene ID: 728621, updated on 10-Oct-2024

    Summary

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    Official Symbol
    CCDC30provided by HGNC
    Official Full Name
    coiled-coil domain containing 30provided by HGNC
    Primary source
    HGNC:HGNC:26103
    See related
    Ensembl:ENSG00000186409 AllianceGenome:HGNC:26103
    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
    PFD6L; PFDN6L
    Expression
    Broad expression in testis (RPKM 2.1), thyroid (RPKM 1.4) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC30 in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (42456107..42657190)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (42326469..42527685)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (42921778..43122861)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal modification protein rimK like family member A Neighboring gene ribosomal protein S15a pseudogene 8 Neighboring gene zinc finger MYND-type containing 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 762 Neighboring gene phosphopantothenoylcysteine synthetase Neighboring gene RPS3A pseudogene 11 Neighboring gene TMSB4X pseudogene 1 Neighboring gene MPRA-validated peak194 silencer Neighboring gene uncharacterized LOC124904162 Neighboring gene RNA, U6 small nuclear 536, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 763 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 765 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 766 Neighboring gene peptidylprolyl isomerase H Neighboring gene Y-box binding protein 1

    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. Cloning and characterization of a novel human prefoldin and SPEC domain protein gene (PFD6L) from the fetal brain. Zhang J, et al. Biochem Genet, 2006 Feb. PMID 16710767
    2. Interactome of the negative regulator of nuclear import BRCA1-binding protein 2. Fatima S, et al. Sci Rep, 2015 Mar 30. PMID 25820252, Free PMC Article
    3. The gluconeogenic enzyme PCK1 phosphorylates INSIG1/2 for lipogenesis. Xu D, et al. Nature, 2020 Apr. PMID 32322062
    4. 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
    5. Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB. Li FL, et al. EMBO J, 2022 Sep 1. PMID 35844135, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel human prefoldin PFD6L from the fetal brain was cloned and characterized.
      Title: Cloning and characterization of a novel human prefoldin and SPEC domain protein gene (PFD6L) from the fetal brain.
    Submit: New GeneRIF Correction

    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

    Homology

    Clone Names

    • FLJ20972

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 30
    Names
    prefoldin subunit 6-like protein

    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_001080850.4 → NP_001074319.1  coiled-coil domain-containing protein 30 isoform 1

      See identical proteins and their annotated locations for NP_001074319.1

      Status: VALIDATED

      Source sequence(s)
      AC098484, AL138788, AL445669
      Consensus CDS
      CCDS30690.1
      UniProtKB/Swiss-Prot
      Q14F06, Q5VVM5, Q5VVM6
      UniProtKB/TrEMBL
      A0A590UJ92
      Related
      ENSP00000339280.4, ENST00000342022.8
      Conserved Domains (2) summary
      pfam00901
      Location:449 → 561
      Orbi_VP5; Orbivirus outer capsid protein VP5
      pfam15742
      Location:227 → 610
      DUF4686; Domain of unknown function (DUF4686)

    2. NM_001355224.2 → NP_001342153.1  coiled-coil domain-containing protein 30 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC098484, AL445669, AL832217, AW296607
      Conserved Domains (1) summary
      pfam15742
      Location:1 → 308
      DUF4686; Domain of unknown function (DUF4686)

    3. NM_001355226.2 → NP_001342155.1  coiled-coil domain-containing protein 30 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC098484, AL138788, AL445669
      Conserved Domains (1) summary
      pfam15742
      Location:1 → 308
      DUF4686; Domain of unknown function (DUF4686)

    4. NM_001355227.2 → NP_001342156.1  coiled-coil domain-containing protein 30 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC098484, AL138788, AL445669
      Conserved Domains (1) summary
      pfam15742
      Location:1 → 308
      DUF4686; Domain of unknown function (DUF4686)

    5. NM_001395379.1 → NP_001382308.1  coiled-coil domain-containing protein 30 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC098484, AL138788, AL445669
      UniProtKB/TrEMBL
      A0A2U3TZI4
      Conserved Domains (1) summary
      TIGR02168
      Location:3 → 584
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    6. NM_001395382.1 → NP_001382311.1  coiled-coil domain-containing protein 30 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC098484, AL138788, AL445669
      Consensus CDS
      CCDS90931.1
      UniProtKB/TrEMBL
      A0A590UJA8, A0A590UJC1
      Related
      ENSP00000499699.1, ENST00000668663.1
      Conserved Domains (2) summary
      COG1196
      Location:2 → 289
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam15742
      Location:154 → 537
      DUF4686; Domain of unknown function (DUF4686)

    7. NM_001395383.1 → NP_001382312.1  coiled-coil domain-containing protein 30 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC098484, AL138788, AL445669
      Consensus CDS
      CCDS90931.1
      UniProtKB/TrEMBL
      A0A590UJA8, A0A590UJC1
      Related
      ENSP00000499722.1, ENST00000667205.1
      Conserved Domains (2) summary
      COG1196
      Location:2 → 289
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam15742
      Location:154 → 537
      DUF4686; Domain of unknown function (DUF4686)

    8. NM_001395384.1 → NP_001382313.1  coiled-coil domain-containing protein 30 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC098484, AL138788, AL445669
      Consensus CDS
      CCDS90931.1
      UniProtKB/TrEMBL
      A0A590UJA8, A0A590UJC1
      Related
      ENSP00000499483.1, ENST00000660083.1
      Conserved Domains (2) summary
      COG1196
      Location:2 → 289
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam15742
      Location:154 → 537
      DUF4686; Domain of unknown function (DUF4686)

    9. NM_001395385.1 → NP_001382314.1  coiled-coil domain-containing protein 30 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC098484, AL138788, AL445669
      Consensus CDS
      CCDS90931.1
      UniProtKB/TrEMBL
      A0A590UJA8, A0A590UJC1
      Related
      ENSP00000499336.1, ENST00000664805.1
      Conserved Domains (2) summary
      COG1196
      Location:2 → 289
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam15742
      Location:154 → 537
      DUF4686; Domain of unknown function (DUF4686)

    10. NM_001395517.1 → NP_001382446.1  coiled-coil domain-containing protein 30 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC098484, AL138788, AL445669
      Consensus CDS
      CCDS90929.1
      UniProtKB/TrEMBL
      A0A2U3TZI4, A0A590UK19
      Related
      ENSP00000499662.2, ENST00000657597.2
      Conserved Domains (2) summary
      COG1196
      Location:26 → 769
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:528 → 770
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    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
      42456107..42657190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429779.1 → XP_047285735.1  coiled-coil domain-containing protein 30 isoform X1

      UniProtKB/TrEMBL
      A0A590UJ28
      Related
      ENSP00000499261.1, ENST00000660938.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      42326469..42527685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338590.1 → XP_054194565.1  coiled-coil domain-containing protein 30 isoform X1

      UniProtKB/TrEMBL
      A0A590UJ28
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VVM6.1 GenPept UniProtKB/Swiss-Prot:Q5VVM6

    Gene LinkOut

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

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