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

Gene ID: 728621, updated on 27-Nov-2024

Summary

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

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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ20972

General protein information

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_001080850.4NP_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:449561
    Orbi_VP5; Orbivirus outer capsid protein VP5
    pfam15742
    Location:227610
    DUF4686; Domain of unknown function (DUF4686)
  2. NM_001355224.2NP_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:1308
    DUF4686; Domain of unknown function (DUF4686)
  3. NM_001355226.2NP_001342155.1  coiled-coil domain-containing protein 30 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC098484, AL138788, AL445669
    Conserved Domains (1) summary
    pfam15742
    Location:1308
    DUF4686; Domain of unknown function (DUF4686)
  4. NM_001355227.2NP_001342156.1  coiled-coil domain-containing protein 30 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC098484, AL138788, AL445669
    Conserved Domains (1) summary
    pfam15742
    Location:1308
    DUF4686; Domain of unknown function (DUF4686)
  5. NM_001395379.1NP_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:3584
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  6. NM_001395382.1NP_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:2289
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam15742
    Location:154537
    DUF4686; Domain of unknown function (DUF4686)
  7. NM_001395383.1NP_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:2289
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam15742
    Location:154537
    DUF4686; Domain of unknown function (DUF4686)
  8. NM_001395384.1NP_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:2289
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam15742
    Location:154537
    DUF4686; Domain of unknown function (DUF4686)
  9. NM_001395385.1NP_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:2289
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam15742
    Location:154537
    DUF4686; Domain of unknown function (DUF4686)
  10. NM_001395517.1NP_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:26769
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:528770
    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_047429779.1XP_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_054338590.1XP_054194565.1  coiled-coil domain-containing protein 30 isoform X1

    UniProtKB/TrEMBL
    A0A590UJ28