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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
  • Clathrin Heavy Chain Linker Domain-Containing Protein 1 3
  • 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

Enhancers for CLHC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F055150 1.6 FANTOM5 Ensembl ENCODE 52.1 +72.8 72815 19.1 ATF1 PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF766 GATA2 FOS JUNB CLHC1 ENSG00000203327 RTN4 PRORSD1P EML6 RNU6-433P RPS27A RNU7-81P MTIF2 PPP4R3B
GH02F055231 1.1 ENCODE 63 -0.4 -423 3.7 PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ZNF143 CLHC1 RPS27A PRORSD1P RTN4 GC02P055233
GH02F055222 1.3 FANTOM5 ENCODE 39.7 +8.5 8522 3.0 HDGF KLF17 SIN3A ZNF2 ZNF121 GLIS2 EGR1 ZNF143 ZNF207 ZNF362 CLHC1 EML6 RTN4 CCDC88A LOC100128027 ENSG00000203327
GH02F055175 1 Ensembl ENCODE 36.8 +56.7 56670 0.6 CTCF ATF1 JUN MAX RAD21 CHAMP1 SMC3 CREM ZNF654 HLF CLHC1 ENSG00000203327 LOC105374674 GC02M055202
GH02F055105 1.8 FANTOM5 Ensembl ENCODE 15.1 +121.0 120963 12.0 HDGF PKNOX1 ARNT MLX SIN3A ARID4B ZNF2 FOS ZNF263 SP3 RTN4 CLHC1 LOC100128027 RPS27A PNPT1 CCDC88A GC02M055111 GC02P055105
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CLHC1 on UCSC Golden Path with GeneCards custom track

Promoters for CLHC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001542509 63 2601 PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ZNF143

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

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

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

Gene Ontology (GO) - Molecular Function for CLHC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CLHC1: view

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

Flow Cytometry Products

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

Localization for CLHC1 Gene

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 CLHC1 gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 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

Transcripts for CLHC1 Gene

Unigene Clusters for CLHC1 Gene

Clathrin heavy chain linker domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for CLHC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CLHC1 Gene:

CLHC1

SOURCE GeneReport for Unigene cluster for CLHC1 Gene:

Hs.347014
genes like me logo Genes that share expression patterns with CLHC1: view

Primer 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 34
  • 99.28 (n)
C2AH2ORF63 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLHC1 34 35
  • 88.28 (n)
cow
(Bos Taurus)
Mammalia CLHC1 34
  • 86.69 (n)
MGC139228 35
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1700034F02Rik 34
  • 80.57 (n)
Clhc1 16 35
  • 68 (a)
rat
(Rattus norvegicus)
Mammalia Clhc1 34
  • 80 (n)
oppossum
(Monodelphis domestica)
Mammalia CLHC1 35
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLHC1 35
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLHC1 35
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clhc1 34
  • 53.74 (n)
Species where no ortholog for CLHC1 was found in the sources mined by GeneCards:
  • 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
rs144133542 Likely pathogenic 55,181,606(+) CTAAC(C/T)GTTTT intron-variant, nc-transcript-variant, reference, missense
rs10164608 -- 55,190,652(+) gaaga(C/T)tagtc intron-variant
rs10167895 -- 55,200,654(+) tcaga(C/T)ttgat intron-variant
rs10168513 -- 55,225,239(+) ATGGC(A/G)CAAGG intron-variant, upstream-variant-2KB
rs10175803 -- 55,190,722(+) aaaga(A/T)taaat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CLHC1 Gene

Variant ID Type Subtype PubMed ID
nsv522016 CNV gain 19592680
nsv1010438 CNV loss 25217958
esv3590853 CNV loss 21293372
esv2720078 CNV deletion 23290073

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

Human Gene Mutation Database (HGMD)
CLHC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLHC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 64
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  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 64
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3 64
  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 64

Products for CLHC1 Gene

Sources for CLHC1 Gene

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