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

Gene ID: 728621, updated on 3-Apr-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
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Genomic context

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Location:
1p34.2
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (42456107..42657190)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (42326469..42527685)
105.20220307 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
  • 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_2023_10

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

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