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

Gene ID: 124808, updated on 7-Apr-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, Apr 2022]
Expression
Ubiquitous expression in urinary bladder (RPKM 12.1), brain (RPKM 11.2) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44677440..44689776, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45531399..45543735, complement)
105.20220307 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. 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
  3. 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
  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 (26) 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)

Genotypes

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_2023_10

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.

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