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

Gene ID: 124808, updated on 18-Aug-2020

Summary

Official Symbol
CCDC43provided by HGNC
Official Full Name
coiled-coil domain containing 43provided by HGNC
Primary source
HGNC:HGNC:26472
See related
Ensembl:ENSG00000180329
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 urinary bladder (RPKM 12.1), brain (RPKM 11.2) and 25 other tissues See more
Orthologs

Genomic context

See CCDC43 in Genome Data Viewer
Location:
17q21.31
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (44677440..44689776, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42754805..42767355, 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 meiosis specific with coiled-coil domain Neighboring gene uncharacterized LOC105371792 Neighboring gene DBF4 zinc finger B Neighboring gene RNA, 7SL, cytoplasmic 819, pseudogene Neighboring gene ribosomal protein L6 pseudogene 26

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31795

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
coiled-coil domain-containing protein 43

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_001099225.2NP_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_144609.3NP_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
    Q96MW1
    Related
    ENSP00000323782.7, ENST00000315286.13

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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