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CCDC90B coiled-coil domain containing 90B [ Homo sapiens (human) ]

Gene ID: 60492, updated on 27-Nov-2024

Summary

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Official Symbol
CCDC90Bprovided by HGNC
Official Full Name
coiled-coil domain containing 90Bprovided by HGNC
Primary source
HGNC:HGNC:28108
See related
Ensembl:ENSG00000137500 MIM:620753; AllianceGenome:HGNC:28108
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
MDS011; MDS025
Summary
Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 14.9), adrenal (RPKM 10.5) and 25 other tissues See more
Orthologs
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Genomic context

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See CCDC90B in Genome Data Viewer
Location:
11q14.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (83259081..83286367, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (83195534..83222819, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (82970123..82997410, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 42 Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 4 Neighboring gene ribosomal protein L32 pseudogene 24 Neighboring gene Sharpr-MPRA regulatory region 3734 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:82996183-82996779 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:82996780-82997375 Neighboring gene CCDC90B antisense RNA 1 Neighboring gene uncharacterized LOC105369420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:83036792-83037292 Neighboring gene CYCS pseudogene 28

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. Characterization of MCU-Binding Proteins MCUR1 and CCDC90B - Representatives of a Protein Family Conserved in Prokaryotes and Eukaryotic Organelles. Adlakha J, et al. Structure, 2019 Mar 5. PMID 30612859
  2. MCUR1 Is a Scaffold Factor for the MCU Complex Function and Promotes Mitochondrial Bioenergetics. Tomar D, et al. Cell Rep, 2016 May 24. PMID 27184846, Free PMC Article
  3. ANKRD13a controls early cell-death checkpoint by interacting with RIP1 independent of NF-κB. Won M, et al. Cell Death Differ, 2022 Jun. PMID 34839354, Free PMC Article
  4. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
  5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Using MCUR1, the functionally characterized paralog of study the role of individual domains, results find that the conserved head domain in CCDC90B interacts directly with mitochondrial calcium uniporter and is destabilized upon Ca(2+) binding.
    Title: Characterization of MCU-Binding Proteins MCUR1 and CCDC90B - Representatives of a Protein Family Conserved in Prokaryotes and Eukaryotic Organelles.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22685, MGC104239

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 mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
coiled-coil domain-containing protein 90B, mitochondrial

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_001286116.2 → NP_001273045.2  coiled-coil domain-containing protein 90B, mitochondrial isoform c

    Status: VALIDATED

    Source sequence(s)
    AP000873
    Consensus CDS
    CCDS66190.1
    Related
    ENSP00000390990.3, ENST00000455220.6
    Conserved Domains (1) summary
    pfam07798
    Location:1 → 151
    DUF1640; Protein of unknown function (DUF1640)

  2. NM_001286117.3 → NP_001273046.1  coiled-coil domain-containing protein 90B, mitochondrial isoform c

    See identical proteins and their annotated locations for NP_001273046.1

    Status: VALIDATED

    Source sequence(s)
    AP000873
    Consensus CDS
    CCDS66190.1
    UniProtKB/Swiss-Prot
    Q9GZT6
    Conserved Domains (1) summary
    pfam07798
    Location:1 → 151
    DUF1640; Protein of unknown function (DUF1640)

  3. NM_001286118.3 → NP_001273047.1  coiled-coil domain-containing protein 90B, mitochondrial isoform d

    See identical proteins and their annotated locations for NP_001273047.1

    Status: VALIDATED

    Source sequence(s)
    AP000873
    UniProtKB/Swiss-Prot
    Q9GZT6
    Conserved Domains (1) summary
    pfam07798
    Location:10 → 154
    DUF1640; Protein of unknown function (DUF1640)

  4. NM_001286119.3 → NP_001273048.1  coiled-coil domain-containing protein 90B, mitochondrial isoform d

    See identical proteins and their annotated locations for NP_001273048.1

    Status: VALIDATED

    Source sequence(s)
    AP000873
    UniProtKB/Swiss-Prot
    Q9GZT6
    Conserved Domains (1) summary
    pfam07798
    Location:10 → 154
    DUF1640; Protein of unknown function (DUF1640)

  5. NM_001286120.3 → NP_001273049.1  coiled-coil domain-containing protein 90B, mitochondrial isoform e

    See identical proteins and their annotated locations for NP_001273049.1

    Status: VALIDATED

    Source sequence(s)
    AP000873
    UniProtKB/Swiss-Prot
    Q9GZT6
    Conserved Domains (1) summary
    pfam07798
    Location:1 → 137
    DUF1640; Protein of unknown function (DUF1640)

  6. NM_021825.5 → NP_068597.2  coiled-coil domain-containing protein 90B, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_068597.2

    Status: VALIDATED

    Source sequence(s)
    AP000873
    Consensus CDS
    CCDS8266.1
    UniProtKB/Swiss-Prot
    A8K8I4, B3KP87, B4E3L2, Q3B781, Q9GZT6, Q9GZU6
    UniProtKB/TrEMBL
    B2RE36
    Related
    ENSP00000434724.1, ENST00000529689.6
    Conserved Domains (1) summary
    pfam07798
    Location:61 → 252
    DUF1640; Protein of unknown function (DUF1640)

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    83259081..83286367 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274156.4 → XP_005274213.1  coiled-coil domain-containing protein 90B, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005274213.1

    Conserved Domains (1) summary
    pfam07798
    Location:10 → 154
    DUF1640; Protein of unknown function (DUF1640)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    83195534..83222819 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369603.1 → XP_054225578.1  coiled-coil domain-containing protein 90B, mitochondrial isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9GZT6.2 GenPept UniProtKB/Swiss-Prot:Q9GZT6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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