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CLUH clustered mitochondria homolog [ Homo sapiens (human) ]

Gene ID: 23277, updated on 27-Nov-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, Nov 2024]
Expression
Ubiquitous expression in kidney (RPKM 25.8), duodenum (RPKM 18.1) and 25 other tissues See more
Orthologs
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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
  • 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 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
  2. 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
  3. CLUH couples mitochondrial distribution to the energetic and metabolic status. Wakim J, et al. J Cell Sci, 2017 Jun 1. PMID 28424233
  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 (62) 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)

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

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