Aliases for CLUH Gene

Aliases for CLUH Gene

  • Clustered Mitochondria Homolog 2 3 5
  • Clustered Mitochondria (CluA/CLU1) Homolog 2 3
  • Clustered Mitochondria Protein Homolog 3 4
  • KIAA0664 2 4
  • CLU1 3

External Ids for CLUH Gene

Previous HGNC Symbols for CLUH Gene

  • KIAA0664

Previous GeneCards Identifiers for CLUH Gene

  • GC17M002593

Summaries for CLUH Gene

GeneCards Summary for CLUH Gene

CLUH (Clustered Mitochondria Homolog) is a Protein Coding gene. Diseases associated with CLUH include Hirschsprung Disease 1. Among its related pathways are Translation Factors. Gene Ontology (GO) annotations related to this gene include mRNA binding.

UniProtKB/Swiss-Prot Summary for CLUH Gene

  • mRNA-binding protein involved in proper cytoplasmic distribution of mitochondria. Specifically binds mRNAs of nuclear-encoded mitochondrial proteins in the cytoplasm and regulates transport or translation of these transcripts close to mitochondria, playing a role in mitochondrial biogenesis.

Additional gene information for CLUH Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLUH Gene

Genomics for CLUH Gene

GeneHancer (GH) Regulatory Elements for CLUH Gene

Promoters and enhancers for CLUH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J002694 Promoter 0.3 EPDnew 750.4 +17.7 17690 0.1 lnc-METTL16-5 piR-56497-060 CLUH
GH17J002592 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.3 +118.0 117962 5 ZNF785 ZBTB6 MLX RBPJ POLR2A HCFC1 ZNF362 L3MBTL2 MNT ZNF148 PAFAH1B1 NONHSAG020517.2 lnc-METTL16-7 RN7SL608P WDR81 PRPF8 SMYD4 METTL16 DPH1 HNRNPA1P16
GH17J002755 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 11.2 -43.2 -43245 1.8 SREBF1 ZNF280D SP7 ZSCAN21 PRDM1 GLIS2 ZIC2 ZBTB8A PRDM10 ZEB2 RAP1GAP2 NONHSAG020528.2 CLUH ENSG00000108958 RF00017-2226
GH17J002685 Enhancer 0.8 Ensembl ENCODE 12.8 +25.4 25362 5.8 POLR2A NR2F6 ZNF121 GLIS2 ZIC2 ZEB2 ZEB1 ZBTB17 RFX5 PAF1 ENSG00000272911 LOC105371490 CLUH SMG6 ENSG00000272770 PAFAH1B1
GH17J002704 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.7 +3.9 3920 9.3 SIN3A SP1 CTCF FOXA1 RBPJ POLR2A USF2 NR2F1 NR2F6 HCFC1 LOC105371592 SMYD4 RPA1 METTL16 SMG6 ENSG00000272911 DPH1 ENSG00000263345 MNT HNRNPA1P16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLUH on UCSC Golden Path with GeneCards custom track

Genomic Locations for CLUH Gene

Genomic Locations for CLUH Gene
chr17:2,689,386-2,712,663
(GRCh38/hg38)
Size:
23,278 bases
Orientation:
Minus strand
chr17:2,592,680-2,615,957
(GRCh37/hg19)
Size:
23,278 bases
Orientation:
Minus strand

Genomic View for CLUH Gene

Genes around CLUH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLUH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLUH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLUH Gene

Proteins for CLUH Gene

  • Protein details for CLUH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75153-CLU_HUMAN
    Recommended name:
    Clustered mitochondria protein homolog
    Protein Accession:
    O75153
    Secondary Accessions:
    • Q6AHY2
    • Q6P3X7
    • Q6ZUG8
    • Q8N4U7
    • Q9BTA3
    • Q9H979

    Protein attributes for CLUH Gene

    Size:
    1309 amino acids
    Molecular mass:
    146670 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AK023003; Type=Frameshift; Positions=1105; Evidence={ECO:0000305}; Sequence=AK125717; Type=Frameshift; Positions=875; Evidence={ECO:0000305}; Sequence=CAH10532.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for CLUH Gene

Post-translational modifications for CLUH Gene

  • Ubiquitination at Lys974
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CLUH Gene

Domains & Families for CLUH Gene

Gene Families for CLUH Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CLUH Gene

Suggested Antigen Peptide Sequences for CLUH Gene

GenScript: Design optimal peptide antigens:
  • Protein KIAA0664 (K0664_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75153

UniProtKB/Swiss-Prot:

CLU_HUMAN :
  • Belongs to the CLU family.
Family:
  • Belongs to the CLU family.
genes like me logo Genes that share domains with CLUH: view

Function for CLUH Gene

Molecular function for CLUH Gene

UniProtKB/Swiss-Prot Function:
mRNA-binding protein involved in proper cytoplasmic distribution of mitochondria. Specifically binds mRNAs of nuclear-encoded mitochondrial proteins in the cytoplasm and regulates transport or translation of these transcripts close to mitochondria, playing a role in mitochondrial biogenesis.

Phenotypes From GWAS Catalog for CLUH Gene

Gene Ontology (GO) - Molecular Function for CLUH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003729 mRNA binding IBA,IDA 25349259
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with CLUH: view
genes like me logo Genes that share phenotypes with CLUH: view

Animal Models for CLUH Gene

MGI Knock Outs for CLUH:
  • Cluh Cluh<tm1.2Eir>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CLUH Gene

Localization for CLUH Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLUH Gene

Cytoplasm. Cytoplasmic granule. Note=A fraction colocalizes with tyrosinated tubulin and can be detected close to mitochondria. {ECO:0000269 PubMed:25349259}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLUH gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1
extracellular 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLUH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 25349259
genes like me logo Genes that share ontologies with CLUH: view

Pathways & Interactions for CLUH Gene

PathCards logo

SuperPathways for CLUH Gene

SuperPathway Contained pathways
1 Translation Factors
genes like me logo Genes that share pathways with CLUH: view

Pathways by source for CLUH Gene

1 BioSystems pathway for CLUH Gene

Gene Ontology (GO) - Biological Process for CLUH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007005 mitochondrion organization IMP 25349259
GO:0048312 intracellular distribution of mitochondria IMP 25349259
genes like me logo Genes that share ontologies with CLUH: view

No data available for SIGNOR curated interactions for CLUH Gene

Drugs & Compounds for CLUH Gene

(4) Drugs for CLUH Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for CLUH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CLUH: view

Transcripts for CLUH Gene

mRNA/cDNA for CLUH Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLUH Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^
SP1: - - - -
SP2: - - - -
SP3: - - - - - - -
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:

ExUns: 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28
SP1: - -
SP2: - -
SP3: - - - - - - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for CLUH Gene

GeneLoc Exon Structure for
CLUH
ECgene alternative splicing isoforms for
CLUH

Expression for CLUH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLUH Gene

mRNA differential expression in normal tissues according to GTEx for CLUH Gene

This gene is overexpressed in Liver (x4.2).

Protein differential expression in normal tissues from HIPED for CLUH Gene

This gene is overexpressed in Breast (22.6), Adrenal (8.8), and Heart (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CLUH Gene



Protein tissue co-expression partners for CLUH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CLUH Gene:

CLUH

SOURCE GeneReport for Unigene cluster for CLUH Gene:

Hs.22616

Evidence on tissue expression from TISSUES for CLUH Gene

  • Nervous system(4.6)
  • Liver(4.3)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with CLUH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLUH Gene

Orthologs for CLUH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CLUH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLUH 33
  • 99 (a)
OneToOne
KIAA0664 32
  • 98.15 (n)
cow
(Bos Taurus)
Mammalia CLUH 33
  • 95 (a)
OneToOne
KIAA0664 32
  • 91.24 (n)
dog
(Canis familiaris)
Mammalia CLUH 33
  • 93 (a)
OneToOne
KIAA0664 32
  • 90.52 (n)
mouse
(Mus musculus)
Mammalia Cluh 17 33 32
  • 88.16 (n)
rat
(Rattus norvegicus)
Mammalia Cluh 32
  • 87.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 85 (a)
OneToMany
-- 33
  • 84 (a)
OneToMany
-- 33
  • 78 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CLUH 33
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLUH 33
  • 82 (a)
OneToOne
KIAA0664 32
  • 76.4 (n)
lizard
(Anolis carolinensis)
Reptilia CLUH 33
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cluh 32
  • 71.64 (n)
Str.18306 32
zebrafish
(Danio rerio)
Actinopterygii cluha 33 32
  • 73.75 (n)
OneToMany
cluhb 33
  • 45 (a)
OneToMany
CLUH (3 of 3) 33
  • 35 (a)
OneToMany
sbcb498 32
African malaria mosquito
(Anopheles gambiae)
Insecta K0664_ANOGA 32
  • 66.53 (n)
fruit fly
(Drosophila melanogaster)
Insecta clu 33 32
  • 60.9 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea clu-1 33 32
  • 48.72 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CLU1 33
  • 21 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G52140 32
  • 43.12 (n)
rice
(Oryza sativa)
Liliopsida Os02g0717400 32
  • 42.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 56 (a)
OneToOne
Cin.4098 32
bread mold
(Neurospora crassa)
Ascomycetes NCU00021 32
  • 49.18 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC530.06c 32
  • 39.3 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4098 32
Species where no ortholog for CLUH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CLUH Gene

ENSEMBL:
Gene Tree for CLUH (if available)
TreeFam:
Gene Tree for CLUH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLUH: view image

Paralogs for CLUH Gene

No data available for Paralogs for CLUH Gene

Variants for CLUH Gene

Sequence variations from dbSNP and Humsavar for CLUH Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs201361018 uncertain-significance, Hirschsprung disease 1 2,691,886(-) C/A/G coding_sequence_variant, missense_variant
rs1000035942 -- 2,713,393(-) G/A upstream_transcript_variant
rs1000085486 -- 2,707,903(-) C/T coding_sequence_variant, intron_variant, synonymous_variant
rs1000086913 -- 2,704,321(-) A/G intron_variant
rs1000138141 -- 2,708,028(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CLUH Gene

Variant ID Type Subtype PubMed ID
esv2660206 CNV deletion 23128226
esv2715504 CNV deletion 23290073
nsv1065489 CNV gain 25217958
nsv574225 CNV loss 21841781
nsv833339 CNV loss 17160897
nsv833340 CNV gain+loss 17160897
nsv952105 CNV deletion 24416366

Variation tolerance for CLUH Gene

Residual Variation Intolerance Score: 4.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.58; 86.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLUH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLUH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLUH Gene

Disorders for CLUH Gene

MalaCards: The human disease database

(1) MalaCards diseases for CLUH Gene - From: GeneCards

Disorder Aliases PubMed IDs
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search CLUH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CLUH

genes like me logo Genes that share disorders with CLUH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLUH Gene

Publications for CLUH Gene

  1. CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins. (PMID: 25349259) Gao J … Rugarli EI (The Journal of cell biology 2014) 2 3 4 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 56
  5. CLUH couples mitochondrial distribution to the energetic and metabolic status. (PMID: 28424233) Wakim J … Khiati S (Journal of cell science 2017) 3 56

Products for CLUH Gene

Sources for CLUH Gene