Format

Send to:

Choose Destination

CCDC130 coiled-coil domain containing 130 [ Homo sapiens (human) ]

Gene ID: 81576, updated on 7-Jun-2020

Summary

Official Symbol
CCDC130provided by HGNC
Official Full Name
coiled-coil domain containing 130provided by HGNC
Primary source
HGNC:HGNC:28118
See related
Ensembl:ENSG00000104957
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
Expression
Ubiquitous expression in spleen (RPKM 12.4), endometrium (RPKM 9.8) and 25 other tissues See more
Orthologs

Genomic context

See CCDC130 in Genome Data Viewer
Location:
19p13.13
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (13731752..13763292)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13842574..13874108)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985287 Neighboring gene uncharacterized LOC105372284 Neighboring gene chromosome 19 open reading frame 53 Neighboring gene methylthioribose-1-phosphate isomerase 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

Homology

Clone Names

  • MGC10471

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA splicing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to virus IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
U2-type spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular_component ND
No biological Data available
more info
 
post-mRNA release spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
coiled-coil domain-containing protein 130
Names
9 kDa 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_001320561.2NP_001307490.1  coiled-coil domain-containing protein 130 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 all encode the same isoform (a).
    Source sequence(s)
    AC008686, AK293927, BC002905, HY078789
    Consensus CDS
    CCDS12296.1
    UniProtKB/Swiss-Prot
    P13994
    UniProtKB/TrEMBL
    B7Z1U2
    Conserved Domains (1) summary
    pfam04502
    Location:8221
    DUF572; Family of unknown function (DUF572)
  2. NM_001320564.2NP_001307493.1  coiled-coil domain-containing protein 130 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 all encode the same isoform (a).
    Source sequence(s)
    AC008686, AK293927, BC002905, BX394050
    Consensus CDS
    CCDS12296.1
    UniProtKB/Swiss-Prot
    P13994
    UniProtKB/TrEMBL
    B7Z1U2
    Conserved Domains (1) summary
    pfam04502
    Location:8221
    DUF572; Family of unknown function (DUF572)
  3. NM_001320565.2NP_001307494.1  coiled-coil domain-containing protein 130 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 all encode the same isoform (a).
    Source sequence(s)
    AC008686, AL560878, BC002905
    Consensus CDS
    CCDS12296.1
    UniProtKB/Swiss-Prot
    P13994
    Related
    ENSP00000465776.1, ENST00000586600.5
    Conserved Domains (1) summary
    pfam04502
    Location:8221
    DUF572; Family of unknown function (DUF572)
  4. NM_001320566.2NP_001307495.1  coiled-coil domain-containing protein 130 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and retains an intron compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 5, 6, and 7 all encode the same isoform (b).
    Source sequence(s)
    AC008686, AK293927, BC002905, BX394050
    UniProtKB/Swiss-Prot
    P13994
    UniProtKB/TrEMBL
    B7Z1U2
    Conserved Domains (1) summary
    pfam04502
    Location:193
    DUF572; Family of unknown function (DUF572)
  5. NM_001320567.2NP_001307496.1  coiled-coil domain-containing protein 130 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and retains an intron compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 5, 6, and 7 all encode the same isoform (b).
    Source sequence(s)
    AC008686, AK293927, BC002905, KC877714
    UniProtKB/Swiss-Prot
    P13994
    UniProtKB/TrEMBL
    B7Z1U2
    Conserved Domains (1) summary
    pfam04502
    Location:193
    DUF572; Family of unknown function (DUF572)
  6. NM_001320568.2NP_001307497.1  coiled-coil domain-containing protein 130 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) retains an intron compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 5, 6, and 7 all encode the same isoform (b).
    Source sequence(s)
    BC002905, BM547551, CR999732
    UniProtKB/Swiss-Prot
    P13994
    Related
    ENST00000593174.5
    Conserved Domains (1) summary
    pfam04502
    Location:193
    DUF572; Family of unknown function (DUF572)
  7. NM_001320569.2NP_001307498.1  coiled-coil domain-containing protein 130 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) lacks an alternate exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC008686, BC002905, BI913255, BX422326
    UniProtKB/Swiss-Prot
    P13994
    Conserved Domains (3) summary
    PHA03193
    Location:199337
    PHA03193; tegument protein VP11/12; Provisional
    COG5134
    Location:1182
    COG5134; Uncharacterized conserved protein [Function unknown]
    pfam04502
    Location:1189
    DUF572; Family of unknown function (DUF572)
  8. NM_030818.4NP_110445.1  coiled-coil domain-containing protein 130 isoform a

    See identical proteins and their annotated locations for NP_110445.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 2, 3, and 4 all encode the same isoform (a).
    Source sequence(s)
    BC002905, BM547551
    Consensus CDS
    CCDS12296.1
    UniProtKB/Swiss-Prot
    P13994
    Related
    ENSP00000221554.7, ENST00000221554.13
    Conserved Domains (1) summary
    pfam04502
    Location:8221
    DUF572; Family of unknown function (DUF572)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    13731752..13763292
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260086.4XP_005260143.1  coiled-coil domain-containing protein 130 isoform X1

    See identical proteins and their annotated locations for XP_005260143.1

    UniProtKB/Swiss-Prot
    P13994
    Conserved Domains (1) summary
    pfam04502
    Location:8221
    DUF572; Family of unknown function (DUF572)
  2. XM_011528326.2XP_011526628.1  coiled-coil domain-containing protein 130 isoform X2

    See identical proteins and their annotated locations for XP_011526628.1

    Conserved Domains (2) summary
    COG5134
    Location:7146
    COG5134; Uncharacterized conserved protein [Function unknown]
    pfam04502
    Location:8186
    DUF572; Family of unknown function (DUF572)

RNA

  1. XR_001753768.2 RNA Sequence

Support Center