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    CLUH clustered mitochondria homolog [ Homo sapiens (human) ]

    Gene ID: 23277, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CLUHprovided by HGNC
    Official Full Name
    clustered mitochondria homologprovided by HGNC
    Primary source
    HGNC:HGNC:29094
    See related
    Ensembl:ENSG00000132361 MIM:616184; AllianceGenome:HGNC:29094
    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
    CLU1
    Summary
    Enables mRNA binding activity. Involved in intracellular distribution of mitochondria. Located in cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 25.8), duodenum (RPKM 18.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CLUH in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2689387..2712020, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (2578517..2601136, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (2592681..2615314, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene platelet activating factor acetylhydrolase 1b regulatory subunit 1 Neighboring gene RNA, 7SL, cytoplasmic 608, pseudogene Neighboring gene uncharacterized LOC105371490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2594504-2595012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2595013-2595520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2603508-2604008 Neighboring gene microRNA 6776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2610047-2610943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2614531-2615427 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2615428-2616323 Neighboring gene uncharacterized LOC105371592 Neighboring gene coiled-coil domain containing 92B Neighboring gene microRNA 1253

    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. CLUH couples mitochondrial distribution to the energetic and metabolic status. Wakim J, et al. J Cell Sci, 2017 Jun 1. PMID 28424233
    2. CLUH functions as a negative regulator of inflammation in human macrophages and determines ulcerative colitis pathogenesis. Khan S, et al. JCI Insight, 2023 Jun 8. PMID 37140992, Free PMC Article
    3. The host protein CLUH participates in the subnuclear transport of influenza virus ribonucleoprotein complexes. Ando T, et al. Nat Microbiol, 2016 May 16. PMID 27573102
    4. CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins. Gao J, et al. J Cell Biol, 2014 Oct 27. PMID 25349259, Free PMC Article
    5. CLUH granules coordinate translation of mitochondrial proteins with mTORC1 signaling and mitophagy. Pla-Martín D, et al. EMBO J, 2020 May 4. PMID 32149416, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CLUH functions as a negative regulator of inflammation in human macrophages and determines ulcerative colitis pathogenesis.
      Title: CLUH functions as a negative regulator of inflammation in human macrophages and determines ulcerative colitis pathogenesis.
    2. CLUH granules coordinate translation of mitochondrial proteins with mTORC1 signaling and mitophagy.
      Title: CLUH granules coordinate translation of mitochondrial proteins with mTORC1 signaling and mitophagy.
    3. CLUH couples mitochondrial distribution to the energetic and metabolic status.
      Title: CLUH couples mitochondrial distribution to the energetic and metabolic status.
    4. Here, the authors show that CLUH, a host protein whose cellular function is not well established, plays a key role in the subnuclear transport of influenza virus nucleoprotein.
      Title: The host protein CLUH participates in the subnuclear transport of influenza virus ribonucleoprotein complexes.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23672, KIAA0664, DKFZp686L05242, DKFZp686M09233

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular distribution of mitochondria IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular distribution of mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    clustered mitochondria protein homolog
    Names
    clustered mitochondria (cluA/CLU1) homolog

    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_001366661.1 → NP_001353590.1  clustered mitochondria protein homolog isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC005696
      Consensus CDS
      CCDS92221.1
      UniProtKB/TrEMBL
      A0A494C0R8, I3L2B0
      Related
      ENSP00000498679.1, ENST00000651024.2
      Conserved Domains (5) summary
      sd00006
      Location:1061 → 1087
      TPR; TPR repeat [structural motif]
      pfam12807
      Location:806 → 987
      eIF3_p135; Translation initiation factor eIF3 subunit 135
      pfam13236
      Location:394 → 614
      CLU; Clustered mitochondria
      pfam13424
      Location:1141 → 1216
      TPR_12; Tetratricopeptide repeat
      pfam15044
      Location:104 → 177
      CLU_N; Mitochondrial function, CLU-N-term

    2. NM_001366662.1 → NP_001353591.1  clustered mitochondria protein homolog isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC005696
      Consensus CDS
      CCDS92220.1
      UniProtKB/Swiss-Prot
      O75153, Q6AHY2, Q6P3X7, Q6ZUG8, Q8N4U7, Q9BTA3, Q9H979
      UniProtKB/TrEMBL
      K7EIG1
      Related
      ENSP00000458986.1, ENST00000570628.6
      Conserved Domains (5) summary
      sd00006
      Location:1022 → 1048
      TPR; TPR repeat [structural motif]
      pfam12807
      Location:767 → 948
      eIF3_p135; Translation initiation factor eIF3 subunit 135
      pfam13236
      Location:356 → 576
      CLU; Clustered mitochondria
      pfam13424
      Location:1102 → 1177
      TPR_12; Tetratricopeptide repeat
      pfam15044
      Location:66 → 139
      CLU_N; Mitochondrial function, CLU-N-term

    3. NM_015229.4 → NP_056044.4  clustered mitochondria protein homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AB014564, AC005696, AK125717, AW291521, BC033614, HY024625
      Consensus CDS
      CCDS45572.1
      UniProtKB/TrEMBL
      I3L2B0
      Conserved Domains (5) summary
      sd00006
      Location:1060 → 1086
      TPR; TPR repeat [structural motif]
      pfam12807
      Location:805 → 986
      eIF3_p135; Translation initiation factor eIF3 subunit 135
      pfam13236
      Location:394 → 614
      CLU; Clustered mitochondria
      pfam13424
      Location:1140 → 1215
      TPR_12; Tetratricopeptide repeat
      pfam15044
      Location:104 → 177
      CLU_N; Mitochondrial function, CLU-N-term

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      2689387..2712020 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435694.1 → XP_047291650.1  clustered mitochondria protein homolog isoform X4

      UniProtKB/Swiss-Prot
      O75153, Q6AHY2, Q6P3X7, Q6ZUG8, Q8N4U7, Q9BTA3, Q9H979
      Related
      ENSP00000388872.1, ENST00000435359.5

    2. XM_011523768.4 → XP_011522070.1  clustered mitochondria protein homolog isoform X3

      UniProtKB/TrEMBL
      K7EIG1
      Conserved Domains (5) summary
      sd00006
      Location:1023 → 1049
      TPR; TPR repeat [structural motif]
      pfam12807
      Location:768 → 949
      eIF3_p135; Translation initiation factor eIF3 subunit 135
      pfam13236
      Location:356 → 576
      CLU; Clustered mitochondria
      pfam13424
      Location:1103 → 1178
      TPR_12; Tetratricopeptide repeat
      pfam15044
      Location:66 → 139
      CLU_N; Mitochondrial function, CLU-N-term

    3. XM_024450679.2 → XP_024306447.1  clustered mitochondria protein homolog isoform X3

      UniProtKB/TrEMBL
      K7EIG1
      Conserved Domains (5) summary
      sd00006
      Location:1023 → 1049
      TPR; TPR repeat [structural motif]
      pfam12807
      Location:768 → 949
      eIF3_p135; Translation initiation factor eIF3 subunit 135
      pfam13236
      Location:356 → 576
      CLU; Clustered mitochondria
      pfam13424
      Location:1103 → 1178
      TPR_12; Tetratricopeptide repeat
      pfam15044
      Location:66 → 139
      CLU_N; Mitochondrial function, CLU-N-term

    4. XM_047435695.1 → XP_047291651.1  clustered mitochondria protein homolog isoform X4

      UniProtKB/Swiss-Prot
      O75153, Q6AHY2, Q6P3X7, Q6ZUG8, Q8N4U7, Q9BTA3, Q9H979

    5. XM_047435693.1 → XP_047291649.1  clustered mitochondria protein homolog isoform X3

    6. XM_024450676.2 → XP_024306444.2  clustered mitochondria protein homolog isoform X2

    7. XM_024450675.2 → XP_024306443.2  clustered mitochondria protein homolog isoform X1

    8. XM_047435692.1 → XP_047291648.1  clustered mitochondria protein homolog isoform X3

      Related
      ENSP00000464732.2, ENST00000575014.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      2578517..2601136 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315602.1 → XP_054171577.1  clustered mitochondria protein homolog isoform X3

    2. XM_054315606.1 → XP_054171581.1  clustered mitochondria protein homolog isoform X4

      UniProtKB/Swiss-Prot
      O75153, Q6AHY2, Q6P3X7, Q6ZUG8, Q8N4U7, Q9BTA3, Q9H979

    3. XM_054315601.1 → XP_054171576.1  clustered mitochondria protein homolog isoform X3

    4. XM_054315605.1 → XP_054171580.1  clustered mitochondria protein homolog isoform X4

      UniProtKB/Swiss-Prot
      O75153, Q6AHY2, Q6P3X7, Q6ZUG8, Q8N4U7, Q9BTA3, Q9H979

    5. XM_054315600.1 → XP_054171575.1  clustered mitochondria protein homolog isoform X6

    6. XM_054315603.1 → XP_054171578.1  clustered mitochondria protein homolog isoform X3

    7. XM_054315599.1 → XP_054171574.1  clustered mitochondria protein homolog isoform X5

    8. XM_054315604.1 → XP_054171579.1  clustered mitochondria protein homolog isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75153.2 GenPept UniProtKB/Swiss-Prot:O75153

    Gene LinkOut

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

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