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

    Gene ID: 202243, updated on 2-Nov-2024

    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, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 4.7), prostate (RPKM 4.2) and 25 other tissues See more
    Orthologs
    mouse all
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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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (69273039..69332801, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (70105918..70158503, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 22641 Neighboring gene Sharpr-MPRA regulatory region 69 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68515812-68516436 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68530435-68530963 Neighboring gene alpha-ketoglutarate dehydrogenase subunit 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:68532675-68533175 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68545886-68546386 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68546387-68546887 Neighboring gene cyclin dependent kinase 7 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68561629-68562129 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 Neighboring gene NADH:ubiquinone oxidoreductase subunit B9 pseudogene 1

    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 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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    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 Variation Viewer (GRCh37.p13)

    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
    		  
    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
    		  
    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
    		  
    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
      F8W912
      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/TrEMBL
      B4DSR1
      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: 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_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

      UniProtKB/TrEMBL
      B4DSR1
      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

      UniProtKB/TrEMBL
      B4DSR1

    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/TrEMBL
      B4DSR1

    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

      UniProtKB/TrEMBL
      F8W912
      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)

    mRNA and Protein(s)

    1. XM_054329516.1 → XP_054185491.1  coiled-coil domain-containing protein 125 isoform X15

    2. XM_054329512.1 → XP_054185487.1  coiled-coil domain-containing protein 125 isoform X13

    3. XM_054329515.1 → XP_054185490.1  coiled-coil domain-containing protein 125 isoform X14

    4. XM_054329511.1 → XP_054185486.1  coiled-coil domain-containing protein 125 isoform X12

    5. XM_054329503.1 → XP_054185478.1  coiled-coil domain-containing protein 125 isoform X6

    6. XM_054329501.1 → XP_054185476.1  coiled-coil domain-containing protein 125 isoform X4

    7. XM_054329498.1 → XP_054185473.1  coiled-coil domain-containing protein 125 isoform X2

    8. XM_054329500.1 → XP_054185475.1  coiled-coil domain-containing protein 125 isoform X3

    9. XM_054329494.1 → XP_054185469.1  coiled-coil domain-containing protein 125 isoform X1

      UniProtKB/Swiss-Prot
      Q86Z19, Q86Z20

    10. XM_054329513.1 → XP_054185488.1  coiled-coil domain-containing protein 125 isoform X13

    11. XM_054329514.1 → XP_054185489.1  coiled-coil domain-containing protein 125 isoform X14

    12. XM_054329510.1 → XP_054185485.1  coiled-coil domain-containing protein 125 isoform X12

    13. XM_054329497.1 → XP_054185472.1  coiled-coil domain-containing protein 125 isoform X2

    14. XM_054329502.1 → XP_054185477.1  coiled-coil domain-containing protein 125 isoform X5

    15. XM_054329499.1 → XP_054185474.1  coiled-coil domain-containing protein 125 isoform X2

    16. XM_054329495.1 → XP_054185470.1  coiled-coil domain-containing protein 125 isoform X1

      UniProtKB/Swiss-Prot
      Q86Z19, Q86Z20

    17. XM_054329496.1 → XP_054185471.1  coiled-coil domain-containing protein 125 isoform X1

      UniProtKB/Swiss-Prot
      Q86Z19, Q86Z20

    18. XM_054329517.1 → XP_054185492.1  coiled-coil domain-containing protein 125 isoform X16

    19. XM_054329519.1 → XP_054185494.1  coiled-coil domain-containing protein 125 isoform X18

    20. XM_054329521.1 → XP_054185496.1  coiled-coil domain-containing protein 125 isoform X20

    21. XM_054329518.1 → XP_054185493.1  coiled-coil domain-containing protein 125 isoform X17

    22. XM_054329509.1 → XP_054185484.1  coiled-coil domain-containing protein 125 isoform X11

    23. XM_054329505.1 → XP_054185480.1  coiled-coil domain-containing protein 125 isoform X9

    24. XM_054329508.1 → XP_054185483.1  coiled-coil domain-containing protein 125 isoform X11

    25. XM_054329506.1 → XP_054185481.1  coiled-coil domain-containing protein 125 isoform X9

    26. XM_054329507.1 → XP_054185482.1  coiled-coil domain-containing protein 125 isoform X10

    27. XM_054329504.1 → XP_054185479.1  coiled-coil domain-containing protein 125 isoform X8

    28. XM_054329520.1 → XP_054185495.1  coiled-coil domain-containing protein 125 isoform X19

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      70105918..70158503 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352001.1 → XP_054207976.1  coiled-coil domain-containing protein 125 isoform X15

    2. XM_054351997.1 → XP_054207972.1  coiled-coil domain-containing protein 125 isoform X13

    3. XM_054351999.1 → XP_054207974.1  coiled-coil domain-containing protein 125 isoform X14

    4. XM_054351996.1 → XP_054207971.1  coiled-coil domain-containing protein 125 isoform X12

    5. XM_054351988.1 → XP_054207963.1  coiled-coil domain-containing protein 125 isoform X6

    6. XM_054351985.1 → XP_054207960.1  coiled-coil domain-containing protein 125 isoform X4

    7. XM_054351982.1 → XP_054207957.1  coiled-coil domain-containing protein 125 isoform X2

    8. XM_054351987.1 → XP_054207962.1  coiled-coil domain-containing protein 125 isoform X5

    9. XM_054351984.1 → XP_054207959.1  coiled-coil domain-containing protein 125 isoform X3

    10. XM_054351978.1 → XP_054207953.1  coiled-coil domain-containing protein 125 isoform X1

      UniProtKB/Swiss-Prot
      Q86Z19, Q86Z20

    11. XM_054351998.1 → XP_054207973.1  coiled-coil domain-containing protein 125 isoform X13

    12. XM_054352000.1 → XP_054207975.1  coiled-coil domain-containing protein 125 isoform X14

    13. XM_054351995.1 → XP_054207970.1  coiled-coil domain-containing protein 125 isoform X12

    14. XM_054351986.1 → XP_054207961.1  coiled-coil domain-containing protein 125 isoform X4

    15. XM_054351981.1 → XP_054207956.1  coiled-coil domain-containing protein 125 isoform X2

    16. XM_054351983.1 → XP_054207958.1  coiled-coil domain-containing protein 125 isoform X2

    17. XM_054351979.1 → XP_054207954.1  coiled-coil domain-containing protein 125 isoform X1

      UniProtKB/Swiss-Prot
      Q86Z19, Q86Z20

    18. XM_054351980.1 → XP_054207955.1  coiled-coil domain-containing protein 125 isoform X1

      UniProtKB/Swiss-Prot
      Q86Z19, Q86Z20

    19. XM_054352002.1 → XP_054207977.1  coiled-coil domain-containing protein 125 isoform X16

    20. XM_054352004.1 → XP_054207979.1  coiled-coil domain-containing protein 125 isoform X18

    21. XM_054352006.1 → XP_054207981.1  coiled-coil domain-containing protein 125 isoform X20

    22. XM_054352003.1 → XP_054207978.1  coiled-coil domain-containing protein 125 isoform X17

    23. XM_054351994.1 → XP_054207969.1  coiled-coil domain-containing protein 125 isoform X11

    24. XM_054351990.1 → XP_054207965.1  coiled-coil domain-containing protein 125 isoform X9

    25. XM_054351993.1 → XP_054207968.1  coiled-coil domain-containing protein 125 isoform X11

    26. XM_054351991.1 → XP_054207966.1  coiled-coil domain-containing protein 125 isoform X9

    27. XM_054351992.1 → XP_054207967.1  coiled-coil domain-containing protein 125 isoform X10

    28. XM_054351989.1 → XP_054207964.1  coiled-coil domain-containing protein 125 isoform X8

    29. XM_054352005.1 → XP_054207980.1  coiled-coil domain-containing protein 125 isoform X19

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86Z20.2 GenPept UniProtKB/Swiss-Prot:Q86Z20

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