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CCDC28B coiled-coil domain containing 28B [ Homo sapiens (human) ]

Gene ID: 79140, updated on 17-Sep-2022

Summary

Official Symbol
CCDC28Bprovided by HGNC
Official Full Name
coiled-coil domain containing 28Bprovided by HGNC
Primary source
HGNC:HGNC:28163
See related
Ensembl:ENSG00000160050 MIM:610162; AllianceGenome:HGNC:28163
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cilia development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Expression
Broad expression in testis (RPKM 4.7), lymph node (RPKM 2.1) and 23 other tissues See more
Orthologs
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Genomic context

See CCDC28B in Genome Data Viewer
Location:
1p35.2
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (32196011..32205387)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (32058497..32063289)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (32666196..32670988)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 39B Neighboring gene microRNA 5585 Neighboring gene Sharpr-MPRA regulatory region 5670 Neighboring gene karyopherin subunit alpha 6 Neighboring gene taxilin alpha Neighboring gene doublecortin domain containing 2B Neighboring gene IQ motif containing C Neighboring gene transmembrane protein 234

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC1203, MGC16441

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
coiled-coil domain-containing protein 28B

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.

Genomic

  1. NG_012178.1 RefSeqGene

    Range
    4995..9787
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001301011.2NP_001287940.1  coiled-coil domain-containing protein 28B isoform 1

    See identical proteins and their annotated locations for NP_001287940.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK291904, BC002462
    Consensus CDS
    CCDS72749.1
    UniProtKB/Swiss-Prot
    Q9BUN5
    Related
    ENSP00000413017.2, ENST00000421922.6
    Conserved Domains (1) summary
    pfam13270
    Location:86183
    DUF4061; Domain of unknown function (DUF4061)
  2. NM_024296.5NP_077272.2  coiled-coil domain-containing protein 28B isoform 2

    See identical proteins and their annotated locations for NP_077272.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK291904, BC022848
    Consensus CDS
    CCDS354.2
    UniProtKB/Swiss-Prot
    Q8TBV8, Q9BUN5
    Related
    ENSP00000362704.5, ENST00000373602.10
    Conserved Domains (1) summary
    pfam13270
    Location:86184
    DUF4061; Domain of unknown function (DUF4061)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    32196011..32205387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430215.1XP_047286171.1  coiled-coil domain-containing protein 28B isoform X1

  2. XM_047430217.1XP_047286173.1  coiled-coil domain-containing protein 28B isoform X2

    UniProtKB/Swiss-Prot
    Q8TBV8
  3. XM_017002308.3XP_016857797.1  coiled-coil domain-containing protein 28B isoform X3

    UniProtKB/TrEMBL
    A0A7P0TB33
    Related
    ENSP00000506476.1, ENST00000681230.1
    Conserved Domains (1) summary
    pfam13270
    Location:86110
    DUF4061; Domain of unknown function (DUF4061)
  4. XM_011542113.4XP_011540415.1  coiled-coil domain-containing protein 28B isoform X1

    See identical proteins and their annotated locations for XP_011540415.1

    UniProtKB/Swiss-Prot
    Q9BUN5
    Conserved Domains (1) summary
    pfam13270
    Location:86183
    DUF4061; Domain of unknown function (DUF4061)
  5. XM_017002307.2XP_016857796.1  coiled-coil domain-containing protein 28B isoform X2

    UniProtKB/Swiss-Prot
    Q8TBV8, Q9BUN5
    Conserved Domains (1) summary
    pfam13270
    Location:86184
    DUF4061; Domain of unknown function (DUF4061)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    32058497..32063289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)