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CCDC78 coiled-coil domain containing 78 [ Homo sapiens (human) ]

Gene ID: 124093, updated on 1-Aug-2020

Summary

Official Symbol
CCDC78provided by HGNC
Official Full Name
coiled-coil domain containing 78provided by HGNC
Primary source
HGNC:HGNC:14153
See related
Ensembl:ENSG00000162004 MIM:614666
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
CNM4; JFP10; C16orf25; hsCCDC78
Summary
The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]
Expression
Broad expression in lung (RPKM 2.8), spleen (RPKM 1.3) and 22 other tissues See more
Orthologs

Genomic context

See CCDC78 in Genome Data Viewer
Location:
16p13.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (722578..726880, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (772582..776880, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene F-box and leucine rich repeat protein 16 Neighboring gene meteorin, glial cell differentiation regulator Neighboring gene adenine nucleotide translocase lysine methyltransferase Neighboring gene hydroxyacylglutathione hydrolase like Neighboring gene cytosolic iron-sulfur assembly component 3

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

Homology

Clone Names

  • FLJ34512

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell projection organization IEA
Inferred from Electronic Annotation
more info
 
de novo centriole assembly involved in multi-ciliated epithelial cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
skeletal muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centriole IDA
Inferred from Direct Assay
more info
PubMed 
deuterosome IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
sarcoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
coiled-coil domain-containing protein 78

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.

Genomic

  1. NG_032932.1 RefSeqGene

    Range
    5031..8892
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031737.3NP_001026907.2  coiled-coil domain-containing protein 78 isoform 1

    See identical proteins and their annotated locations for NP_001026907.2

    Status: VALIDATED

    Source sequence(s)
    BC042110, Z98258
    Consensus CDS
    CCDS32353.1
    UniProtKB/Swiss-Prot
    A2IDD5
    Related
    ENSP00000293889.6, ENST00000293889.10
    Conserved Domains (1) summary
    pfam14739
    Location:56164
    DUF4472; Domain of unknown function (DUF4472)
  2. NM_001378030.1NP_001364959.1  coiled-coil domain-containing protein 78 isoform 3

    Status: VALIDATED

    Source sequence(s)
    Z98258
    Related
    ENSP00000316851.5, ENST00000345165.9
  3. NM_001378031.1NP_001364960.1  coiled-coil domain-containing protein 78 isoform 4

    Status: VALIDATED

    Source sequence(s)
    Z98258
  4. NM_001378033.1NP_001364962.1  coiled-coil domain-containing protein 78 isoform 5

    Status: VALIDATED

    Source sequence(s)
    Z98258

RNA

  1. NR_165382.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    Z98258
  2. NR_165383.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    Z98258
  3. NR_165384.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    Z98258
    Related
    ENST00000466708.5
  4. NR_165385.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    Z98258
  5. NR_165386.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    Z98258
    Related
    ENST00000463539.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    722578..726880 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022929.1XP_016878418.1  coiled-coil domain-containing protein 78 isoform X7

  2. XM_011522358.2XP_011520660.1  coiled-coil domain-containing protein 78 isoform X3

    Conserved Domains (1) summary
    pfam14739
    Location:130309
    DUF4472; Domain of unknown function (DUF4472)
  3. XM_017022931.1XP_016878420.1  coiled-coil domain-containing protein 78 isoform X21

  4. XM_011522363.1XP_011520665.1  coiled-coil domain-containing protein 78 isoform X9

    Conserved Domains (1) summary
    pfam14739
    Location:130309
    DUF4472; Domain of unknown function (DUF4472)
  5. XM_011522361.1XP_011520663.1  coiled-coil domain-containing protein 78 isoform X6

    Conserved Domains (1) summary
    pfam14739
    Location:130309
    DUF4472; Domain of unknown function (DUF4472)
  6. XM_024450150.1XP_024305918.1  coiled-coil domain-containing protein 78 isoform X22

  7. XM_017022930.1XP_016878419.1  coiled-coil domain-containing protein 78 isoform X20

  8. XM_011522371.2XP_011520673.1  coiled-coil domain-containing protein 78 isoform X19

  9. XM_011522369.1XP_011520671.1  coiled-coil domain-containing protein 78 isoform X16

    Conserved Domains (1) summary
    pfam14739
    Location:56164
    DUF4472; Domain of unknown function (DUF4472)
  10. XM_011522368.1XP_011520670.1  coiled-coil domain-containing protein 78 isoform X15

    Conserved Domains (1) summary
    pfam14739
    Location:130251
    DUF4472; Domain of unknown function (DUF4472)
  11. XM_011522367.1XP_011520669.1  coiled-coil domain-containing protein 78 isoform X14

    Conserved Domains (1) summary
    pfam14739
    Location:130164
    DUF4472; Domain of unknown function (DUF4472)
  12. XM_006720838.1XP_006720901.1  coiled-coil domain-containing protein 78 isoform X13

    Conserved Domains (1) summary
    pfam14739
    Location:130238
    DUF4472; Domain of unknown function (DUF4472)
  13. XM_011522365.1XP_011520667.1  coiled-coil domain-containing protein 78 isoform X11

    Conserved Domains (1) summary
    pfam14739
    Location:130238
    DUF4472; Domain of unknown function (DUF4472)
  14. XM_011522360.1XP_011520662.1  coiled-coil domain-containing protein 78 isoform X5

    Conserved Domains (1) summary
    pfam14739
    Location:130298
    DUF4472; Domain of unknown function (DUF4472)
  15. XM_011522359.1XP_011520661.1  coiled-coil domain-containing protein 78 isoform X4

    Conserved Domains (1) summary
    pfam14739
    Location:130298
    DUF4472; Domain of unknown function (DUF4472)
  16. XM_011522357.1XP_011520659.1  coiled-coil domain-containing protein 78 isoform X2

    Conserved Domains (1) summary
    pfam14739
    Location:130309
    DUF4472; Domain of unknown function (DUF4472)
  17. XM_011522356.1XP_011520658.1  coiled-coil domain-containing protein 78 isoform X1

    Conserved Domains (1) summary
    pfam14739
    Location:130309
    DUF4472; Domain of unknown function (DUF4472)
  18. XM_011522370.1XP_011520672.1  coiled-coil domain-containing protein 78 isoform X18

    Conserved Domains (1) summary
    pfam14739
    Location:5690
    DUF4472; Domain of unknown function (DUF4472)
  19. XM_006720843.4XP_006720906.1  coiled-coil domain-containing protein 78 isoform X17

    Related
    ENST00000485091.5
    Conserved Domains (1) summary
    pfam14739
    Location:56164
    DUF4472; Domain of unknown function (DUF4472)
  20. XM_011522366.1XP_011520668.1  coiled-coil domain-containing protein 78 isoform X12

    Conserved Domains (1) summary
    pfam14739
    Location:56235
    DUF4472; Domain of unknown function (DUF4472)
  21. XM_011522364.1XP_011520666.1  coiled-coil domain-containing protein 78 isoform X10

    Conserved Domains (1) summary
    pfam14739
    Location:130309
    DUF4472; Domain of unknown function (DUF4472)
  22. XM_011522362.1XP_011520664.1  coiled-coil domain-containing protein 78 isoform X8

    Conserved Domains (1) summary
    pfam14739
    Location:130309
    DUF4472; Domain of unknown function (DUF4472)

RNA

  1. XR_001751838.1 RNA Sequence

  2. XR_001751839.1 RNA Sequence

  3. XR_001751837.1 RNA Sequence

  4. XR_001751836.1 RNA Sequence

  5. XR_001751835.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_173476.2: Suppressed sequence

    Description
    NM_173476.2: This RefSeq was suppressed because insufficient evidence exists for the exon combination of this transcript variant, which was based on AK128538.1.
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