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

    Gene ID: 60492, updated on 28-Oct-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, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 14.9), adrenal (RPKM 10.5) and 25 other tissues See more
    Orthologs
    mouse all
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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 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)

    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

    • 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.

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