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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CLTC Gene

protein-coding   GIFtS: 68
GCID: GC17P057697

Clathrin, Heavy Chain (Hc)

(Previous names: clathrin, heavy polypeptide (Hc), clathrin, heavy chain,...)
(Previous symbol: CLTCL2)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Clathrin, Heavy Chain (Hc)1 2     CHC2
CLTCL21 2 3     CHC172
Clathrin, Heavy Polypeptide (Hc)1 2     Hc2
Clathrin, Heavy Polypeptide-Like 21 2     Clathrin Heavy Chain 12
Clathrin Heavy Chain On Chromosome 172 3     CLH173
CLH-172 3     KIAA00343
Clathrin, Heavy Chain1     

External Ids:    HGNC: 20921   Entrez Gene: 12132   Ensembl: ENSG000001413677   OMIM: 1189555   UniProtKB: Q006103   

Export aliases for CLTC gene to outside databases

Previous GC identifers: GC17P057433 GC17P060146 GC17P058039 GC17P058171 GC17P055052 GC17P053069


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CLTC Gene:
Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles
and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and
endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy
chains and three light chains. (provided by RefSeq, Jul 2008)

GeneCards Summary for CLTC Gene: 
CLTC (clathrin, heavy chain (Hc)) is a protein-coding gene. Diseases associated with CLTC include tietz syndrome, and tietze's syndrome, and among its related super-pathways are Clathrin-dependent protein traffic and Synaptic Vesicle Pathway. GO annotations related to this gene include protein binding and structural molecule activity. An important paralog of this gene is CLTCL1.

UniProtKB/Swiss-Prot: CLH1_HUMAN, Q00610
Function: Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter
protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network

Gene Wiki entry for CLTC Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CLTC gene promoter:
         STAT1   AP-2alpha isoform 3   MyoD   AP-2alpha isoform 2   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLTC promoter sequence
   Search SABiosciences Chromatin IP Primers for CLTC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLTC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q23.1   Ensembl cytogenetic band:  17q23.1   HGNC cytogenetic band: 17q23.1

CLTC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLTC gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P057697:  view genomic region     (about GC identifiers)

Start:
57,697,050 bp from pter      End:
57,774,317 bp from pter
Size:
77,268 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CLH1_HUMAN, Q00610 (See protein sequence)
Recommended Name: Clathrin heavy chain 1  
Size: 1675 amino acids; 191615 Da
Subunit: Clathrin triskelions, composed of 3 heavy chains and 3 light chains, are the basic subunits of the
clathrin coat. In the presence of light chains, hub assembly is influenced by both the pH and the concentration
of calcium. Interacts with HIP1. Interacts with DENND1A, DENND1B and DENND1C (By similarity). May interact with
OCRL. Interacts with ERBB2 (By similarity)
Subcellular location: Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane,
coated pit; Peripheral membrane protein; Cytoplasmic side. Melanosome. Note=Cytoplasmic face of coated pits and
vesicles. Identified by mass spectrometry in melanosome fractions from stage I to stage IV
Sequence caution: Sequence=BAA04801.2; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for CLTC:
2XZG (3D)        4G55 (3D)    
Secondary accessions: D3DU00 Q6N0A0 Q86TF2
Alternative splicing: 2 isoforms:  Q00610-1   Q00610-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CLTC: NX_Q00610

Explore proteomics data for CLTC at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q00610

  • CLTC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CLTC Protein Expression
    REFSEQ proteins: NP_004850.1  
    ENSEMBL proteins: 
     ENSP00000376763   ENSP00000269122   ENSP00000462592   ENSP00000462252   ENSP00000463336  
     ENSP00000463068   ENSP00000465200   ENSP00000461977  
    Reactome Protein details: Q00610
    Human Recombinant Protein Products for CLTC: 
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    Novus Biologicals CLTC Protein
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CLTC 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005819spindle IDA15858577
    GO:0005829cytosol TAS--
    GO:0030117membrane coat ----
    GO:0030118clathrin coat NAS1765375

    CLTC for ontologies           About GeneDecksing



    CLTC Antibody Products: 
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    Cloud-Clone Corp. ELISAs for CLTC 
    Cloud-Clone Corp. CLIAs for CLTC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR016341 Clathrin_heavy_chain
     IPR011990 TPR-like_helical
     IPR001473 Clathrin_H-chain_propeller_N
     IPR015348 Clathrin_H-chain_linker_core
     IPR000547 Clathrin_H-chain/VPS_repeat

    Graphical View of Domain Structure for InterPro Entry Q00610

    ProtoNet protein and cluster: Q00610

    1 Blocks protein domain: IPB000547 7-Fold repeat in clathrin and VPS proteins

    UniProtKB/Swiss-Prot: CLH1_HUMAN, Q00610
    Domain: The N-terminal seven-bladed beta-propeller is formed by WD40-like repeats, and projects inward from the
    polyhedral outer clathrin coat. It consitutes a major protein-protein interaction node
    Similarity: Belongs to the clathrin heavy chain family
    Similarity: Contains 7 CHCR (clathrin heavy-chain) repeats


    CLTC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLH1_HUMAN, Q00610
    Function: Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter
    protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network

         Genatlas biochemistry entry for CLTC:
    clathrin,heavy chain 1,ubiquitously expressed,component of coated vesicles and coated pits,translocated to plasma
    membrane through AP2 binding,also expressed in synaptic vesicles

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS1765375
    GO:0005488binding ----
    GO:0005515protein binding IPI12429846
         
    CLTC for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CLTC:
     Increased gamma-H2AX phosphory  Synthetic lethal with imatinib 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CLTC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CLTC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLTC 
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    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): CLTC 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLTC


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CLTC About   (see all 23)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic0.66
    wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)0.37
    Transport Clathrin-coated vesicle cycle0.66
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)0.35
    2Synaptic vesicle cycle
    Synaptic vesicle cycle0.50
    Synaptic Vesicle Pathway0.50
    3Endocytic Trafficking of EGFR
    Endocytic Trafficking of EGFR0.36
    Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)0.35
    4Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Lysosome Vesicle Biogenesis0.39
    5Formation of annular gap junctions
    Formation of annular gap junctions0.92
    Gap junction degradation0.92

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for CLTC
        Clathrin-dependent protein traffic
    Development Angiotensin signaling via beta-Arrestin

    1 R&D Systems Pathway for CLTC
        Notch Signaling Pathways

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CLTC
        CTLA4 Signaling
    Endocytic Trafficking of EGFR
    Remodeling of Adherens Junctions

    1 Cell Signaling Technology (CST) Pathway for CLTC
        Cytoskeletal Signaling

    5 GeneGo (Thomson Reuters) Pathways for CLTC
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Development Angiotensin signaling via beta-Arrestin
    Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    5 BioSystems Pathways for CLTC
        Kit Receptor Signaling Pathway
    IL-7 Signaling Pathway
    Synaptic Vesicle Pathway
    FAS (CD95) signaling pathway
    Arf6 trafficking events

    5/12        Reactome Pathways for CLTC (see all 12)
        Gap junction degradation
    Membrane Trafficking
    Clathrin derived vesicle budding
    Formation of annular gap junctions
    trans-Golgi Network Vesicle Budding


    5/6         Kegg Pathways  (Kegg details for CLTC) (see all 6):
        Lysosome
    Endocytosis
    Synaptic vesicle cycle
    Endocrine and other factor-regulated calcium reabsorption
    Huntington's disease


    CLTC for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CLTC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/328 Interacting proteins for CLTC (Q006102, 3 ENSP000002691224) via UniProtKB, MINT, STRING, and/or I2D (see all 328)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYBP102422, 3, ENSP000003399924MINT-6802049 MINT-6802128 MINT-6802167 MINT-6802072 I2D: score=1 STRING: ENSP00000339992
    TOM1L1O756742, 3, ENSP000004089584MINT-7983390 MINT-7983349 MINT-7983330 MINT-7983368 I2D: score=1 STRING: ENSP00000408958
    CLTAP094962, 3, ENSP000002422854MINT-6802072 MINT-8145273 I2D: score=2 STRING: ENSP00000242285
    XRCC6P129562, 3, ENSP000003522574MINT-3979927 I2D: score=4 STRING: ENSP00000352257
    NFKB2Q006532, 3MINT-48593 MINT-48727 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport NAS1765375
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0006898receptor-mediated endocytosis IMP15858577
    GO:0007067mitosis IMP15858577
    GO:0016192vesicle-mediated transport ----

    CLTC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CLTC (CLH1)

    1 HMDB Compound for CLTC    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about CLTC / CLH1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CLTC gene: 
    NM_004859.3  

    Unigene Cluster for CLTC:

    Clathrin, heavy chain (Hc)
    Hs.491351  [show with all ESTs]
    Unigene Representative Sequence: NM_004859
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393043(uc002ixp.3) ENST00000269122(uc002ixq.1 uc002ixr.1)
    ENST00000580081 ENST00000579456 ENST00000584313 ENST00000585198 ENST00000472129
    ENST00000483176 ENST00000466513 ENST00000579815 ENST00000496076 ENST00000472651
    ENST00000475458 ENST00000498711
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/95 QIAGEN miScript miRNA Assays for microRNAs that regulate CLTC (see all 95):
    hsa-miR-607 hsa-miR-3938 hsa-miR-640 hsa-miR-1245 hsa-miR-632 hsa-miR-759 hsa-miR-149 hsa-miR-130b
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB073891.1 AF130062.2 AK127134.1 BC015854.1 BC036430.1 BC051800.2 BC054489.1 BX640615.1 
    D21260.1 X55878.1 

    24/46 DOTS entries (see all 46):

    DT.219977  DT.91887587  DT.95338490  DT.120930523  DT.95155315  DT.95367945  DT.92471783  DT.100728189 
    DT.100882689  DT.120930474  DT.100672405  DT.120930620  DT.100882683  DT.95367962  DT.97864554  DT.100882690 
    DT.92471757  DT.95367929  DT.120930529  DT.120930740  DT.304623  DT.95367944  DT.100882680  DT.120930595 

    24/991 AceView cDNA sequences (see all 991):

    H08813 AA693465 AW575255 BQ777066 AA648800 CA429666 BP377054 BG573774 
    AA025033 BG253443 AA374706 BU189036 AA074736 BU507459 BQ230200 CA866004 
    AA351429 F12897 AA361745 BM853120 BM804243 AA877897 CB140908 BG167560 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for CLTC (see all 11)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^
    SP1:              -                                   -                             -                             -           -                                 
    SP2:                                                  -                             -                             -           -                                 
    SP3:              -                                   -                             -                             -           -                                 
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32 ^ 33a · 33b ^ 34a · 34b · 34c ^ 35a · 35b · 35c
    SP1:                                                                                            -     -     -           -                     
    SP2:                                                                                            -     -     -           -                     
    SP3:                                                                                            -     -     -                                 
    SP4:                                                                                                                                          
    SP5:                                                                                                  -     -           -                     


    ECgene alternative splicing isoforms for CLTC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CLTC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTCCAATCT
    CLTC Expression
    About this image


    See CLTC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLTC

    SOURCE GeneReport for Unigene cluster: Hs.491351
        SABiosciences Expression via Pathway-Focused PCR Array including CLTC: 
              Huntington's Disease in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CLTC gene from 10/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cltc1 , 5 clathrin, heavy polypeptide (Hc)1, 5 92.04(n)1
    99.88(a)1
      11 (51.82 cM)5
    673001  NM_001003908.11  NP_001003908.11 
     866943515 
    chicken
    (Gallus gallus)
    Aves CLTC1 clathrin, heavy chain (Hc) 84.04(n)
    99.16(a)
      395272  NM_001080117.1  NP_001073586.1 
    lizard
    (Anolis carolinensis)
    Reptilia CLTC6
    Uncharacterized protein
    98(a)
    1 ↔ 1
    GL343470.1(313789-394114)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.238232 Xenopus laevis transcribed sequence with strong similarity more 82.61(n)    CB558212.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc49a112 wufc49a11 78.37(n)   324943  CK018279.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Chc1 , 3 synaptic vesicle coating3
    Clathrin heavy chain1
    80(a)3
    67.93(n)1
    80.41(a)1
      325371  NM_001103523.11  NP_001096993.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T20G5.13
    chc-11
    Clathrin heavy chain3
    Protein CHC-11
    71(a)3
    64.84(n)1
    71.92(a)1
      III(10275533-10281067)3
    1764341  NM_066859.31  NP_499260.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CHC1(YGL206C)4
    CHC11
    Clathrin heavy chain, subunit of the major coat protein more4
    Chc1p1
    55.65(n)1
    50.43(a)1
      7(107504-102543)4
    8526661, 4  NP_011309.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G085301 Clathrin, heavy chain 58.95(n)
    57.15(a)
      820001  NM_111688.6  NP_187466.4 
    barley
    (Hordeum vulgare)
    Liliopsida Hv.14102 Transcribed sequence with moderate similarity to protein more 73.39(n)    CA030159.1 


    ENSEMBL Gene Tree for CLTC (if available)
    TreeFam Gene Tree for CLTC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CLTC gene
    CLTCL12  
    1 SIMAP similar gene for CLTC using alignment to 8 protein entries:     CLH1_HUMAN (see all proteins):
    CLTCL1

    CLTC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1320 SNPs in CLTC are shown (see all 1320)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1473106871,2
    --57695291(+) TGTACA/TTAAAG 1 -- us2k10--------
    rs1808658771,2
    C--57695384(+) TGAGAC/TTGAAA 1 -- us2k10--------
    rs1836316231,2
    --57695598(+) ACTCTG/TACAAC 1 -- us2k10--------
    rs43742301,2
    C,F,A,H--57695769(+) CAAAAT/CTATCG 1 -- us2k126Minor allele frequency- C:0.18NS EA NA WA CSA 2473
    rs114640211,2
    C--57695868(+) GGGGGG/-AGAAT 1 -- us2k1 trp31Minor allele frequency- -:0.50CSA 2
    rs590258271,2
    C--57695874(+) GGGGG-/AGGAGA 1 -- us2k10--------
    rs1409075891,2
    --57695918(+) CTAACA/GTCTTT 1 -- us2k10--------
    rs1882544251,2
    --57695933(+) CTTTAC/TTGTAT 1 -- us2k10--------
    rs1820854071,2
    --57695940(+) GTATTA/GGTGCG 1 -- us2k10--------
    rs129447161,2
    C,F,A,H--57695992(+) ACCAGG/AAAGGT 1 -- us2k1 tfbs314Minor allele frequency- A:0.15NS EA NA WA CSA 661

    HapMap Linkage Disequilibrium report for CLTC (57697050 - 57774317 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CLTC:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2672443CNV Deletion23128226
    nsv833501CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 118955    OMIM disorders: --

    17 diseases for CLTC:    About MalaCards
    tietz syndrome    tietze's syndrome    ophthalmia neonatorum    congenital hypothyroidism
    autoimmune hepatitis    hypothyroidism    vaccinia    huntington's disease
    hepatitis    cholangiocarcinoma    hepatitis c    myeloid leukemia
    prostate cancer    prostatitis    leukemia    breast cancer
    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for CLTC:
    Congenital hypothyroidism     Hepatitis C     Hepatitis     Ophthalmia neonatorum

    CLTC for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): CLTC
    Human Genome Epidemiology (HuGE) Navigator: CLTC (4 documents)

    Export disorders for CLTC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CLTC gene, integrated from 9 sources (see all 204):
    (articles sorted by number of sources associating them with CLTC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PubMed id 7584026)1, 2, 3 Nomura N.... Tabata S. (1994)
    2. Human clathrin heavy chain (CLTC): partial molecular cloning, expression, and mapping of the gene to human chromosome 17q11-qter. (PubMed id 1765375)1, 2, 3 Dodge G.R.... Iozzo R.V. (1991)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    5. Endosomal transport of ErbB-2: mechanism for nuclear entry of the cell surface receptor. (PubMed id 16314522)1, 2 Giri D.K....Hung M.C. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    8. The huntingtin interacting protein HIP1 is a clathrin and alpha- adaptin-binding protein involved in receptor-mediated endocytosis. (PubMed id 11532990)1, 2 Waelter S....Wanker E.E. (2001)
    9. CHC promotes tumor growth and angiogenesis through reg ulation of HIF-1a and VEGF signaling. (PubMed id 23228632)1 Tung K.H....Wu H.C. (2013)
    10. Deubiquitinase FAM/USP9X interacts with the E3 ubiquit in ligase SMURF1 protein and protects it from ligase activity-dependent self-deg radation. (PubMed id 23184937)1 Xie Y....Cong F. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1213 HGNC: 2092 AceView: CLTC Ensembl:ENSG00000141367 euGenes: HUgn1213
    ECgene: CLTC Kegg: 1213 H-InvDB: CLTC

    (According to HUGE)
    About This Section
    HUGE: KIAA0034

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CLTC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CLTC Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Clathrin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CLTC gene:
    Search GeneIP for patents involving CLTC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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