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

Gene ID: 728621, updated on 5-Aug-2018

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 Vega:OTTHUMG00000007334
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

Genomic context

See CCDC30 in Genome Data Viewer
Location:
1p34.2
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (42456070..42654190)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43000560..43120335)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene forkhead box J3 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 phosphopantothenoylcysteine synthetase Neighboring gene ribosomal protein S3a pseudogene 11 Neighboring gene TMSB4X pseudogene 1 Neighboring gene RNA, U6 small nuclear 536, pseudogene 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20972

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001080850.3NP_001074319.1  coiled-coil domain-containing protein 30 isoform 1

    See identical proteins and their annotated locations for NP_001074319.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK302075, AL445669, AL832217, AW296607
    Consensus CDS
    CCDS30690.1
    UniProtKB/Swiss-Prot
    Q5VVM6
    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_001355224.1NP_001342153.1  coiled-coil domain-containing protein 30 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents use of an alternate upstream promoter and has multiple differences, which result in translation initiation from an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AL445669, AL832217, AW296607
    Consensus CDS
    CCDS85957.1
    Related
    ENSP00000421479.2, ENST00000477155.5
    Conserved Domains (1) summary
    pfam15742
    Location:1308
    DUF4686; Domain of unknown function (DUF4686)
  3. NM_001355226.1NP_001342155.1  coiled-coil domain-containing protein 30 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents use of an alternate upstream promoter and has multiple differences, which result in translation initiation from an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AC098484, AL138788, AL445669
    Consensus CDS
    CCDS85957.1
    Conserved Domains (1) summary
    pfam15742
    Location:1308
    DUF4686; Domain of unknown function (DUF4686)
  4. NM_001355227.1NP_001342156.1  coiled-coil domain-containing protein 30 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has multiple differences, including use of an alternate upstream promoter and alternative splicing at the 3' end, compared to variant 1. The resulting isoform (3) has a shorter N-terminus and a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC098484, AL138788, AL445669
    Conserved Domains (1) summary
    pfam15742
    Location:1308
    DUF4686; Domain of unknown function (DUF4686)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    42456070..42654190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449505.1XP_024305273.1  coiled-coil domain-containing protein 30 isoform X7

    Conserved Domains (1) summary
    pfam15742
    Location:1308
    DUF4686; Domain of unknown function (DUF4686)
  2. XM_024449504.1XP_024305272.1  coiled-coil domain-containing protein 30 isoform X5

    Conserved Domains (2) summary
    pfam15742
    Location:154537
    DUF4686; Domain of unknown function (DUF4686)
    cl25732
    Location:2289
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_024449502.1XP_024305270.1  coiled-coil domain-containing protein 30 isoform X1

    Related
    ENSP00000340378.4, ENST00000340612.5
    Conserved Domains (3) summary
    TIGR04211
    Location:25122
    SH3_and_anchor; SH3 domain protein
    pfam15742
    Location:294677
    DUF4686; Domain of unknown function (DUF4686)
    cl25642
    Location:24277
    DUF390; Protein of unknown function (DUF390)
  4. XM_024449503.1XP_024305271.1  coiled-coil domain-containing protein 30 isoform X5

    Conserved Domains (2) summary
    pfam15742
    Location:154537
    DUF4686; Domain of unknown function (DUF4686)
    cl25732
    Location:2289
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_017002226.1XP_016857715.1  coiled-coil domain-containing protein 30 isoform X2

    UniProtKB/Swiss-Prot
    Q5VVM6
    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)
  6. XM_011542068.3XP_011540370.1  coiled-coil domain-containing protein 30 isoform X2

    See identical proteins and their annotated locations for XP_011540370.1

    UniProtKB/Swiss-Prot
    Q5VVM6
    Conserved Domains (2) summary
    pfam00901
    Location:449561
    Orbi_VP5; Orbivirus outer capsid protein VP5
    pfam15742
    Location:227610
    DUF4686; Domain of unknown function (DUF4686)
  7. XM_011542069.2XP_011540371.1  coiled-coil domain-containing protein 30 isoform X3

    Conserved Domains (2) summary
    pfam00901
    Location:403515
    Orbi_VP5; Orbivirus outer capsid protein VP5
    pfam15742
    Location:181564
    DUF4686; Domain of unknown function (DUF4686)
  8. XM_011542071.2XP_011540373.1  coiled-coil domain-containing protein 30 isoform X6

    Related
    OTTHUMP00000222509, OTTHUMT00000370040
    Conserved Domains (2) summary
    pfam00901
    Location:263375
    Orbi_VP5; Orbivirus outer capsid protein VP5
    pfam15742
    Location:41424
    DUF4686; Domain of unknown function (DUF4686)
  9. XM_011542070.3XP_011540372.1  coiled-coil domain-containing protein 30 isoform X4

    Conserved Domains (2) summary
    pfam00901
    Location:386498
    Orbi_VP5; Orbivirus outer capsid protein VP5
    pfam15742
    Location:164547
    DUF4686; Domain of unknown function (DUF4686)

RNA

  1. XR_002957535.1 RNA Sequence

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