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

Gene ID: 25901, updated on 11-Sep-2019

Summary

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
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

Genomic context

See CCDC28A in Genome Data Viewer
Location:
6q24.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (138773517..138793319)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (139094657..139114456)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NHS like 1 Neighboring gene mitochondrial carrier 1 pseudogene Neighboring gene uncharacterized LOC441172 Neighboring gene GVQW motif containing 2 Neighboring gene epithelial cell transforming 2 like Neighboring gene ACKR4 pseudogene 1 Neighboring gene uncharacterized LOC107986650

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC131913, DKFZp586D0623

Gene Ontology Provided by GOA

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

General protein information

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

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_015439.2NP_056254.1  coiled-coil domain-containing protein 28A

    See identical proteins and their annotated locations for NP_056254.1

    Status: VALIDATED

    Source sequence(s)
    AY167571
    Consensus CDS
    CCDS5192.1
    UniProtKB/Swiss-Prot
    Q8IWP9
    Related
    ENSP00000332716.6, ENST00000332797.10
    Conserved Domains (1) summary
    pfam13270
    Location:173257
    DUF4061; Domain of unknown function (DUF4061)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    138773517..138793319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535728.3XP_011534030.1  coiled-coil domain-containing protein 28A isoform X1

    Conserved Domains (1) summary
    pfam13270
    Location:173198
    DUF4061; Domain of unknown function (DUF4061)
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