Aliases for CLHC1 Gene

Aliases for CLHC1 Gene

  • Clathrin Heavy Chain Linker Domain Containing 1 2 3 5
  • Clathrin Heavy Chain Linker Domain-Containing Protein 1 3 4
  • C2orf63 3 4
  • Chromosome 2 Open Reading Frame 63 2
  • FLJ31438 2
  • CLHC1 5

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. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is CLTC.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLHC1 Gene

Genomics for CLHC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CLHC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLHC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLHC1

Genomic Locations for CLHC1 Gene

Genomic Locations for CLHC1 Gene
chr2:55,172,547-55,232,563
(GRCh38/hg38)
Size:
60,017 bases
Orientation:
Minus strand
chr2:55,399,683-55,459,699
(GRCh37/hg19)
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

Gene Families for CLHC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CLHC1 Gene

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CLHC1 Gene

Function for CLHC1 Gene

Phenotypes From GWAS Catalog 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
genes like me logo Genes that share phenotypes with CLHC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLHC1

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
cytosol 2
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

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

Pathways & Interactions for CLHC1 Gene

PathCards logo

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

mRNA/cDNA for CLHC1 Gene

11 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLHC1

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

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 and MOPED for CLHC1 Gene



Protein tissue co-expression partners for CLHC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30
  • 99.28 (n)
C2AH2ORF63 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CLHC1 30 31
  • 88.28 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CLHC1 30
  • 86.69 (n)
MGC139228 31
  • 79 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 1700034F02Rik 30
  • 80.57 (n)
Clhc1 17 31
  • 68 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Clhc1 30
  • 80 (n)
Oppossum
(Monodelphis domestica)
Mammalia CLHC1 31
  • 60 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CLHC1 31
  • 56 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CLHC1 31
  • 46 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia clhc1 30
  • 53.74 (n)
Species where no ortholog for CLHC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CLHC1: view image

Paralogs for CLHC1 Gene

Paralogs for CLHC1 Gene

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

  • CLHC1_HUMAN
  • B5MC48_HUMAN
  • C9J143_HUMAN
  • E7EQP3_HUMAN
  • E7EVC5_HUMAN
  • H7C1D8_HUMAN
genes like me logo Genes that share paralogs with CLHC1: view

Variants for CLHC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLHC1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs144133542 Likely Pathogenic: Waddling gait; Marked Hypotonia 55,181,606(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs14026 - p.Ala503Val
rs3186099 - p.Asp552Tyr
rs6716066 - p.Val426Ile
rs9677948 - p.Ala178Val

Additional dbSNP identifiers (rs#s) for CLHC1 Gene

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

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

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)

Additional Variant Information for CLHC1 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLHC1 Gene

Disorders for CLHC1 Gene

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 (Nature genetics 2004) 3 4
  2. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. (PMID: 27503909) Teixeira FR … Laman H (The Biochemical journal 2016) 3
  3. A Cross-Species Study of PI3K Protein-Protein Interactions Reveals the Direct Interaction of P85 and SHP2. (PMID: 26839216) Breitkopf SB … Asara JM (Scientific reports 2016) 3
  4. BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein. (PMID: 27433848) Malik S … Nakanishi A (Cell cycle (Georgetown, Tex.) 2016) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3

Products for CLHC1 Gene

Sources for CLHC1 Gene