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CCDC28A coiled-coil domain containing 28A [ Homo sapiens (human) ]

Gene ID: 25901, updated on 17-Sep-2024

Summary

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Official Symbol
CCDC28Aprovided by HGNC
Official Full Name
coiled-coil domain containing 28Aprovided by HGNC
Primary source
HGNC:HGNC:21098
See related
Ensembl:ENSG00000024862 MIM:615353; AllianceGenome:HGNC:21098
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
C6orf80; CCRL1AP
Summary
This gene encodes a coiled-coil domain containing protein. Although the specific function of this gene has not yet been determined, this gene is a known translocation partner of nucleoporin 98 in acute leukemias. The resulting fusion gene produces a nucleoporin 98-coiled-coil domain-containing protein 28A chimeric protein which may be involved in promoting myeloproliferative neoplasms. [provided by RefSeq, Jan 2017]
Expression
Ubiquitous expression in thyroid (RPKM 10.4), adrenal (RPKM 9.2) and 25 other tissues See more
Orthologs
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Genomic context

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See CCDC28A in Genome Data Viewer
Location:
6q24.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (138773769..138793319)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (139962307..139981863)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (139094906..139114456)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NHS like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17598 Neighboring gene collagen alpha-1(III) chain Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17600 Neighboring gene NHSL1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:139043918-139044568 Neighboring gene CCDC28A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25160 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139093957-139094631 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139094632-139095305 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90660 Neighboring gene epithelial cell transforming 2 like Neighboring gene ACKR4 pseudogene 1 Neighboring gene MPRA-validated peak6155 silencer Neighboring gene U6 spliceosomal RNA

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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Related articles in PubMed

  1. Characterization of 6q abnormalities in childhood acute myeloid leukemia and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98-C6orf80 fusion in a case of acute megakaryoblastic leukemia. Tosi S, et al. Genes Chromosomes Cancer, 2005 Nov. PMID 16028218
  2. Functional analysis of the NUP98-CCDC28A fusion protein. Petit A, et al. Haematologica, 2012 Mar. PMID 22058212, Free PMC Article
  3. A Multipronged Unbiased Strategy Guides the Development of an Anti-EGFR/EPHA2-Bispecific Antibody for Combination Cancer Therapy. El Zawily A, et al. Clin Cancer Res, 2023 Jul 14. PMID 36976175, Free PMC Article
  4. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404
  5. The protein interaction landscape of the human CMGC kinase group. Varjosalo M, et al. Cell Rep, 2013 Apr 25. PMID 23602568

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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

Clone Names

  • MGC131913, DKFZp586D0623

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
coiled-coil domain-containing protein 28A
Names
chemokine C-C motif receptor-like 1 adjacent

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_001379071.1 → NP_001366000.1  coiled-coil domain-containing protein 28A isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL121834
    Conserved Domains (1) summary
    pfam13270
    Location:83 → 108
    DUF4061; Domain of unknown function (DUF4061)

  2. NM_015439.3 → NP_056254.2  coiled-coil domain-containing protein 28A isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL121834, AY167571
    Consensus CDS
    CCDS5192.2
    UniProtKB/TrEMBL
    B4DUJ5, Q7Z6N9
    Related
    ENSP00000482946.1, ENST00000617445.5
    Conserved Domains (1) summary
    pfam13270
    Location:83 → 168
    DUF4061; Domain of unknown function (DUF4061)

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    138773769..138793319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    139962307..139981863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IWP9.1 GenPept UniProtKB/Swiss-Prot:Q8IWP9

Gene LinkOut

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Chemical Information
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