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CCDC125 coiled-coil domain containing 125 [ Homo sapiens (human) ]

Gene ID: 202243, updated on 5-Aug-2022

Summary

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Official Symbol
CCDC125provided by HGNC
Official Full Name
coiled-coil domain containing 125provided by HGNC
Primary source
HGNC:HGNC:28924
See related
Ensembl:ENSG00000183323 MIM:613781; AllianceGenome:HGNC:28924
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
KENAE
Summary
Enables identical protein binding activity. Involved in activation of GTPase activity; negative regulation of Rho protein signal transduction; and negative regulation of cell motility. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 4.7), prostate (RPKM 4.2) and 25 other tissues See more
Orthologs
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Genomic context

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See CCDC125 in Genome Data Viewer
Location:
5q13.2
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (69273039..69332801, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (70105918..70158503, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (68576002..68628628, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 51 Neighboring gene centromere protein H Neighboring gene Sharpr-MPRA regulatory region 69 Neighboring gene mitochondrial ribosomal protein S36 Neighboring gene cyclin dependent kinase 7 Neighboring gene cofilin 1 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 11525 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 2

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. Role of Kenae/CCDC125 in cell motility through the deregulation of RhoGTPase. Araya N, et al. Int J Mol Med, 2009 Nov. PMID 19787194
  2. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article
  3. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
  4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (7) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in activation of GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in negative regulation of Rho protein signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cell motility IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in negative regulation of cell motility IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
coiled-coil domain-containing protein 125

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_001297696.2 → NP_001284625.1  coiled-coil domain-containing protein 125 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR exon and an alternate splice site in the 5' coding region, and lacks an internal exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting isoform (2) lacks an internal aa in the N-terminal region and has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC145132, AI141520, AK299871, BC108715
    UniProtKB/TrEMBL
    B4DSR1
    Related
    ENSP00000372865.2, ENST00000383374.6
    Conserved Domains (1) summary
    TIGR02168
    Location:110 → 256
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  2. NM_001297697.2 → NP_001284626.1  coiled-coil domain-containing protein 125 isoform 3

    See identical proteins and their annotated locations for NP_001284626.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an alternate 5' UTR exon, lacks an internal segment and has an alternate splice site in the 5' region, compared to variant 1. The translation initiation is at a downstream AUG start codon, and the resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC145132, AI141520, AK299871, BC108715, BC113749
    Consensus CDS
    CCDS75255.1
    UniProtKB/Swiss-Prot
    Q86Z20
    UniProtKB/TrEMBL
    B4DSR1, Q2HJ12
    Related
    ENSP00000426795.1, ENST00000511257.1
    Conserved Domains (1) summary
    pfam09730
    Location:2 → 139
    BicD; Microtubule-associated protein Bicaudal-D

  3. NM_176816.5 → NP_789786.2  coiled-coil domain-containing protein 125 isoform 1

    See identical proteins and their annotated locations for NP_789786.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB024691, AC145132, AI141520, BC108715
    Consensus CDS
    CCDS4000.1
    UniProtKB/Swiss-Prot
    Q86Z19, Q86Z20
    Related
    ENSP00000379754.2, ENST00000396496.7
    Conserved Domains (1) summary
    TIGR02168
    Location:111 → 257
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    69273039..69332801 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543258.3 → XP_011541560.1  coiled-coil domain-containing protein 125 isoform X7

    See identical proteins and their annotated locations for XP_011541560.1

    Conserved Domains (1) summary
    TIGR02168
    Location:111 → 257
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  2. XM_047416908.1 → XP_047272864.1  coiled-coil domain-containing protein 125 isoform X17

  3. XM_047416901.1 → XP_047272857.1  coiled-coil domain-containing protein 125 isoform X11

  4. XM_047416899.1 → XP_047272855.1  coiled-coil domain-containing protein 125 isoform X9

  5. XM_047416900.1 → XP_047272856.1  coiled-coil domain-containing protein 125 isoform X11

  6. XM_047416898.1 → XP_047272854.1  coiled-coil domain-containing protein 125 isoform X9

  7. XM_017009207.2 → XP_016864696.1  coiled-coil domain-containing protein 125 isoform X10

  8. XM_011543259.3 → XP_011541561.1  coiled-coil domain-containing protein 125 isoform X8

    See identical proteins and their annotated locations for XP_011541561.1

    Conserved Domains (1) summary
    TIGR02168
    Location:111 → 257
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  9. XM_047416907.1 → XP_047272863.1  coiled-coil domain-containing protein 125 isoform X15

  10. XM_047416904.1 → XP_047272860.1  coiled-coil domain-containing protein 125 isoform X13

  11. XM_047416906.1 → XP_047272862.1  coiled-coil domain-containing protein 125 isoform X14

  12. XM_047416902.1 → XP_047272858.1  coiled-coil domain-containing protein 125 isoform X12

  13. XM_047416897.1 → XP_047272853.1  coiled-coil domain-containing protein 125 isoform X6

  14. XM_047416895.1 → XP_047272851.1  coiled-coil domain-containing protein 125 isoform X4

  15. XM_017009206.3 → XP_016864695.1  coiled-coil domain-containing protein 125 isoform X2

    Conserved Domains (1) summary
    cl25732
    Location:110 → 256
    SMC_N; RecF/RecN/SMC N terminal domain

  16. XM_047416896.1 → XP_047272852.1  coiled-coil domain-containing protein 125 isoform X5

  17. XM_047416893.1 → XP_047272849.1  coiled-coil domain-containing protein 125 isoform X3

  18. XM_005248458.6 → XP_005248515.1  coiled-coil domain-containing protein 125 isoform X1

    See identical proteins and their annotated locations for XP_005248515.1

    UniProtKB/Swiss-Prot
    Q86Z19, Q86Z20
    Related
    ENSP00000379756.1, ENST00000396499.5
    Conserved Domains (1) summary
    TIGR02168
    Location:111 → 257
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  19. XM_024454396.2 → XP_024310164.1  coiled-coil domain-containing protein 125 isoform X2

    Conserved Domains (1) summary
    cl25732
    Location:110 → 256
    SMC_N; RecF/RecN/SMC N terminal domain

  20. XM_011543256.4 → XP_011541558.1  coiled-coil domain-containing protein 125 isoform X1

    See identical proteins and their annotated locations for XP_011541558.1

    UniProtKB/Swiss-Prot
    Q86Z19, Q86Z20
    Conserved Domains (1) summary
    TIGR02168
    Location:111 → 257
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  21. XM_006714570.5 → XP_006714633.1  coiled-coil domain-containing protein 125 isoform X13

    See identical proteins and their annotated locations for XP_006714633.1

    Conserved Domains (1) summary
    TIGR02168
    Location:34 → 180
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  22. XM_047416905.1 → XP_047272861.1  coiled-coil domain-containing protein 125 isoform X14

  23. XM_047416903.1 → XP_047272859.1  coiled-coil domain-containing protein 125 isoform X12

  24. XM_047416894.1 → XP_047272850.1  coiled-coil domain-containing protein 125 isoform X4

  25. XM_005248459.6 → XP_005248516.1  coiled-coil domain-containing protein 125 isoform X2

    See identical proteins and their annotated locations for XP_005248516.1

    Conserved Domains (1) summary
    cl25732
    Location:110 → 256
    SMC_N; RecF/RecN/SMC N terminal domain

  26. XM_011543255.4 → XP_011541557.1  coiled-coil domain-containing protein 125 isoform X1

    See identical proteins and their annotated locations for XP_011541557.1

    UniProtKB/Swiss-Prot
    Q86Z19, Q86Z20
    Conserved Domains (1) summary
    TIGR02168
    Location:111 → 257
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  27. XM_005248461.5 → XP_005248518.1  coiled-coil domain-containing protein 125 isoform X16

    See identical proteins and their annotated locations for XP_005248518.1

  28. XM_005248463.5 → XP_005248520.1  coiled-coil domain-containing protein 125 isoform X18

    See identical proteins and their annotated locations for XP_005248520.1

    UniProtKB/Swiss-Prot
    Q86Z20

  29. XM_017009211.3 → XP_016864700.1  coiled-coil domain-containing protein 125 isoform X20

  30. XM_011543260.3 → XP_011541562.1  coiled-coil domain-containing protein 125 isoform X19

    See identical proteins and their annotated locations for XP_011541562.1

    Conserved Domains (1) summary
    TIGR02168
    Location:111 → 257
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    63350..115915 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    70105918..70158503 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86Z20.2 GenPept UniProtKB/Swiss-Prot:Q86Z20

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