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Aliases for CLHC1 Gene

Aliases for CLHC1 Gene

  • Clathrin Heavy Chain Linker Domain Containing 1 2 3 5
  • C2orf63 3 4
  • Chromosome 2 Open Reading Frame 63 2

External Ids for CLHC1 Gene

Previous HGNC Symbols for CLHC1 Gene

  • C2orf63

Previous GeneCards Identifiers for CLHC1 Gene

  • GC02M055400

Summaries for CLHC1 Gene

GeneCards Summary for CLHC1 Gene

CLHC1 (Clathrin Heavy Chain Linker Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include binding.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLHC1 Gene

Genomics for CLHC1 Gene

Regulatory Elements for CLHC1 Gene

Promoters for CLHC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CLHC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CLHC1 Gene

Chromosome:
2
Start:
55,172,547 bp from pter
End:
55,232,563 bp from pter
Size:
60,017 bases
Orientation:
Minus strand

Genomic View for CLHC1 Gene

Genes around CLHC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLHC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLHC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLHC1 Gene

Proteins for CLHC1 Gene

  • Protein details for CLHC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHS4-CLHC1_HUMAN
    Recommended name:
    Clathrin heavy chain linker domain-containing protein 1
    Protein Accession:
    Q8NHS4
    Secondary Accessions:
    • B2RDV1
    • Q53R93
    • Q8N403

    Protein attributes for CLHC1 Gene

    Size:
    586 amino acids
    Molecular mass:
    67250 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CLHC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLHC1 Gene

Proteomics data for CLHC1 Gene at MOPED

Post-translational modifications for CLHC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CLHC1 Gene

Domains & Families for CLHC1 Gene

Protein Domains for CLHC1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CLHC1: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CLHC1 Gene

Function for CLHC1 Gene

Phenotypes for CLHC1 Gene

GenomeRNAi human phenotypes for CLHC1:
genes like me logo Genes that share phenotypes with CLHC1: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CLHC1 Gene

Localization for CLHC1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLHC1 Gene COMPARTMENTS Subcellular localization image for CLHC1 gene
Compartment Confidence
cytosol 2
mitochondrion 2
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CLHC1 Gene

Pathways & Interactions for CLHC1 Gene

SuperPathways for CLHC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CLHC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CLHC1 Gene

Drugs & Compounds for CLHC1 Gene

No Compound Related Data Available

Transcripts for CLHC1 Gene

Unigene Clusters for CLHC1 Gene

Clathrin heavy chain linker domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CLHC1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^
SP1: - - - - - - - - - - - - - - - - - -
SP2:
SP3:
SP4: -
SP5: - - - - - - - - - - - - - - -
SP6:
SP7:
SP8: - - - - -
SP9: - - - - - -
SP10: - - - - - - -
SP11: - - - - - - -
SP12: - - - - - - - -
SP13: - - - - - - - - - - - - - - - - - - - -
SP14: - - - - - -
SP15: - -
SP16: -
SP17:
SP18:

ExUns: 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c ^ 19a · 19b · 19c · 19d
SP1: - - - -
SP2: -
SP3:
SP4: - - - - -
SP5:
SP6: - - -
SP7: - - - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - - - - - -
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for CLHC1 Gene

GeneLoc Exon Structure for
CLHC1
ECgene alternative splicing isoforms for
CLHC1

Expression for CLHC1 Gene

mRNA expression in normal human tissues for CLHC1 Gene

Protein differential expression in normal tissues from HIPED for CLHC1 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CLHC1 Gene



SOURCE GeneReport for Unigene cluster for CLHC1 Gene Hs.347014

genes like me logo Genes that share expression patterns with CLHC1: view

Protein tissue co-expression partners for CLHC1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CLHC1 Gene

Orthologs for CLHC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLHC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLHC1 35
  • 99.28 (n)
  • 99.14 (a)
C2AH2ORF63 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MGC139228 36
  • 79 (a)
OneToOne
CLHC1 35
  • 86.69 (n)
  • 79.01 (a)
dog
(Canis familiaris)
Mammalia CLHC1 35
  • 88.28 (n)
  • 81.74 (a)
CLHC1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clhc1 16
Clhc1 36
  • 68 (a)
OneToOne
1700034F02Rik 35
  • 80.57 (n)
  • 69.91 (a)
oppossum
(Monodelphis domestica)
Mammalia CLHC1 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLHC1 36
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clhc1 35
  • 80 (n)
  • 69.91 (a)
lizard
(Anolis carolinensis)
Reptilia CLHC1 36
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clhc1 35
  • 53.74 (n)
  • 41.51 (a)
Species with no ortholog for CLHC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CLHC1 Gene

ENSEMBL:
Gene Tree for CLHC1 (if available)
TreeFam:
Gene Tree for CLHC1 (if available)

Paralogs for CLHC1 Gene

(1) SIMAP similar genes for CLHC1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CLHC1: view

No data available for Paralogs for CLHC1 Gene

Variants for CLHC1 Gene

Sequence variations from dbSNP and Humsavar for CLHC1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs9677948 - 55,209,798(+) TGAGA(A/G)CATCT intron-variant, upstream-variant-2KB, reference, missense
rs6716066 - 55,180,618(+) GTAGA(C/T)AATCT intron-variant, downstream-variant-500B, reference, missense
rs14026 - 55,177,658(+) TGTCT(A/G)CAGAG downstream-variant-500B, reference, missense
rs3186099 - 55,175,897(-) GCTTT(G/T)ACAAA reference, missense
rs1133181 -- 55,175,136(-) GTTTT(G/T)GATTA utr-variant-3-prime

Variation tolerance for CLHC1 Gene

Residual Variation Intolerance Score: 83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.12; 95.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLHC1 Gene

HapMap Linkage Disequilibrium report
CLHC1
Human Gene Mutation Database (HGMD)
CLHC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CLHC1 Gene

Disorders for CLHC1 Gene

Relevant External Links for CLHC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLHC1

No disorders were found for CLHC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CLHC1 Gene

Publications for CLHC1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. (PMID: 24322204) Winham S.J. … Biernacka J.M. (Mol. Psychiatry 2013) 3
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3

Products for CLHC1 Gene

Sources for CLHC1 Gene

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