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    CCDC43 coiled-coil domain containing 43 [ Homo sapiens (human) ]

    Gene ID: 124808, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCDC43provided by HGNC
    Official Full Name
    coiled-coil domain containing 43provided by HGNC
    Primary source
    HGNC:HGNC:26472
    See related
    Ensembl:ENSG00000180329 AllianceGenome:HGNC:26472
    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
    Summary
    Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in urinary bladder (RPKM 12.1), brain (RPKM 11.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC43 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44677440..44689776, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45531399..45543735, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42754808..42767144, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1180 Neighboring gene single-pass membrane protein with coiled-coil domains 4 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8599 Neighboring gene meiosis specific with coiled-coil domain Neighboring gene uncharacterized LOC105371792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:42766877-42767466 Neighboring gene uncharacterized LOC124904010 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:42785839-42786353 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:42786354-42786867 Neighboring gene DBF4B-CDC7 kinase regulatory subunit Neighboring gene RNA, 7SL, cytoplasmic 819, pseudogene

    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. The FOXK1-CCDC43 Axis Promotes the Invasion and Metastasis of Colorectal Cancer Cells. Wang J, et al. Cell Physiol Biochem, 2018. PMID 30562730
    2. The CCDC43-ADRM1 axis regulated by YY1, promotes proliferation and metastasis of gastric cancer. Wang J, et al. Cancer Lett, 2020 Jul 10. PMID 32278016
    3. HMGA1 promotes gastric cancer growth and metastasis by transactivating SUZ12 and CCDC43 expression. Yang Q, et al. Aging (Albany NY), 2021 Jun 24. PMID 34167089, Free PMC Article
    4. Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease. Beilina A, et al. Proc Natl Acad Sci U S A, 2014 Feb 18. PMID 24510904, Free PMC Article
    5. A catalogue of putative HIV-1 protease host cell substrates. Impens F, et al. Biol Chem, 2012 Sep. PMID 22944692

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HMGA1 promotes gastric cancer growth and metastasis by transactivating SUZ12 and CCDC43 expression.
      Title: HMGA1 promotes gastric cancer growth and metastasis by transactivating SUZ12 and CCDC43 expression.
    2. The CCDC43-ADRM1 axis regulated by YY1, promotes proliferation and metastasis of gastric cancer.
      Title: The CCDC43-ADRM1 axis regulated by YY1, promotes proliferation and metastasis of gastric cancer.
    3. This work identified that CCDC43 promoted epithelial-mesenchymal transition and was a direct transcriptional target of FOXK1 in colorectal cancer cells.
      Title: The FOXK1-CCDC43 Axis Promotes the Invasion and Metastasis of Colorectal Cancer Cells.
    Submit: New GeneRIF Correction

    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human coiled-coil domain containing 43 (CCDC43) at amino acid residues 159-160 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31795

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 43

    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_001099225.2 → NP_001092695.1  coiled-coil domain-containing protein 43 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BX648868
      Consensus CDS
      CCDS45705.1
      UniProtKB/Swiss-Prot
      Q96MW1
      Related
      ENSP00000400845.1, ENST00000457422.6

    2. NM_144609.3 → NP_653210.2  coiled-coil domain-containing protein 43 isoform 1

      See identical proteins and their annotated locations for NP_653210.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC023298, BG706097
      Consensus CDS
      CCDS45704.1
      UniProtKB/Swiss-Prot
      C9JVK9, Q96MW1
      UniProtKB/TrEMBL
      Q86WV7
      Related
      ENSP00000323782.7, ENST00000315286.13

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      44677440..44689776 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      45531399..45543735 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MW1.2 GenPept UniProtKB/Swiss-Prot:Q96MW1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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