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CLTC Gene

protein-coding   GIFtS: 70
GCID: GC17P057697

Clathrin, Heavy Chain (Hc)

(Previous names: clathrin, heavy polypeptide (Hc), clathrin, heavy chain,...)
(Previous symbol: CLTCL2)
  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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   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 Chromatin IP Primers for CLTC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • Ubiquitination2 at Lys163, Lys367, Lys389, Lys453, Lys507, Lys619, Lys798, Lys856, Lys881, Lys911,
                                 Lys941, Lys1034, Lys1074, Lys1179, Lys1215, Lys1347, Lys1443, Lys1449, Lys1501
  • Modification sites at PhosphoSitePlus

  • See CLTC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001275582.1  NP_004850.1  

    ENSEMBL proteins: 
     ENSP00000376763   ENSP00000269122   ENSP00000462592   ENSP00000462252   ENSP00000463336  
     ENSP00000463068   ENSP00000465200   ENSP00000461977  
    Reactome Protein details: Q00610

    CLTC Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CLTC
    GenScript Custom Purified and Recombinant Proteins Services for CLTC
    Novus Biologicals CLTC Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CLTC

    CLTC Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CLTC
    R&D Systems Antibodies for CLTC (Clathrin Heavy Chain 1/CHC17)
    Cell Signaling Technology (CST) Antibodies for CLTC 
    OriGene Antibodies for CLTC
    OriGene Custom Antibody Services for CLTC
    Novus Biologicals CLTC Antibodies
    Abcam antibodies for CLTC (Q00610, P53675)
    Cloud-Clone Corp. Antibodies for CLTC
    ThermoFisher Antibody for CLTC
    LSBio Antibodies in human, mouse, rat for CLTC

    CLTC Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CLTC
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CLTC
    Browse Enzo Life Sciences for kits & assays
    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

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    Selected 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003725double-stranded RNA binding IDA--
    GO:0005198structural molecule activity NAS1765375
    GO:0005488binding ----
    GO:0005515protein binding IPI12429846
    GO:0032051clathrin light chain binding IPI4066749
         
    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: Let us create your new Knockout/Knockin mouse model for CLTC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CLTC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLTC
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLTC

    miRNA
    Products:
        
    miRTarBase miRNAs that target CLTC:
    hsa-mir-4326 (MIRT052842), hsa-mir-16-5p (MIRT051201), hsa-mir-106b-5p (MIRT044262), hsa-mir-615-3p (MIRT040142), hsa-let-7e-5p (MIRT051640), hsa-mir-92a-3p (MIRT049256), hsa-mir-503-5p (MIRT041098), hsa-mir-1 (MIRT023919), hsa-mir-155-5p (MIRT020878), hsa-mir-484 (MIRT041695), hsa-mir-99a-3p (MIRT038715)

    Block miRNA regulation of human, mouse, rat CLTC using miScript Target Protectors
    Selected qRT-PCR 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
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): CLTC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CLTC
    Predesigned siRNA for gene silencing in human, mouse, rat CLTC

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CLTC

    Clone
    Products:
         
    OriGene clones in human, mouse for CLTC (see all 6)
    OriGene ORF clones in mouse, rat for CLTC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CLTC (NM_004859)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLTC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLTC

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CLTC
    Browse ESI BIO Cell Lines and PureStem Progenitors for CLTC 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLTC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CLH1_HUMAN, Q00610: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    extracellular5
    cytosol4
    golgi apparatus2
    mitochondrion2
    plasma membrane2
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005819spindle IDA15858577
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0030117membrane coat ----

    CLTC for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CLTC About   (see all 24)  
    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 Pathway0.50
    Synaptic vesicle cycle0.50
    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
    Lysosome Vesicle Biogenesis0.41
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    trans-Golgi Network Vesicle Budding0.89
    5Gap junction trafficking
    Gap junction trafficking0.93
    Formation of annular gap junctions0.00
    Gap junction trafficking and regulation0.93
    Gap junction degradation0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for CLTC
        Notch Signaling Pathways

    3 Downloadable PowerPoint Slides of GeneGlobe 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
    Arf6 trafficking events
    FAS (CD95) signaling pathway

    Selected Reactome Pathways for CLTC (see all 6)
        Gap junction degradation
    Golgi Associated Vesicle Biogenesis
    Formation of annular gap junctions
    Lysosome Vesicle Biogenesis
    WNT5A-dependent internalization of FZD4


    Selected 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

        Pathway & Disease-focused RT2 Profiler PCR Array including CLTC: 
              Huntington's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CLTC

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

    Selected Interacting proteins for CLTC (Q006101, 2, 3 ENSP000002691224) via UniProtKB, MINT, STRING, and/or I2D (see all 492)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYBP102421, 2, 3, ENSP000003399924EBI-354967,EBI-298355 MINT-6802049 MINT-6802128 MINT-6802167 MINT-6802072 I2D: score=1 STRING: ENSP00000339992
    TOM1L1O756741, 2, 3, ENSP000004089584EBI-354967,EBI-712991 MINT-7983390 MINT-7983349 MINT-7983330 MINT-7983368 I2D: score=1 STRING: ENSP00000408958
    CLTAP094962, 3, ENSP000002422854MINT-6802072 MINT-8145273 I2D: score=2 STRING: ENSP00000242285
    HIP1O002912, 3, ENSP000003367474MINT-3979944 I2D: score=4 STRING: ENSP00000336747
    IKBKBO149202, 3, ENSP000003391514MINT-48080 I2D: score=2 STRING: ENSP00000339151
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CLTC gene (2 alternative transcripts): 
    NM_001288653.1  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
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CLTC using miScript Target Protectors
    Selected qRT-PCR 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
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): CLTC 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CLTC
    Predesigned siRNA for gene silencing in human, mouse, rat CLTC
    Clone
    Products:
         
    OriGene clones in human, mouse for CLTC (see all 6)
    OriGene ORF clones in mouse, rat for CLTC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CLTC (NM_004859)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLTC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLTC
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CLTC
    OriGene qSTAR qPCR primer pairs in human, mouse for CLTC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CLTC
      QuantiTect SYBR Green Assays in human, mouse, rat CLTC
      QuantiFast Probe-based Assays in human, mouse, rat CLTC

    Additional mRNA sequence: 

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

    Selected 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 

    Selected AceView cDNA sequences (see all 991):

    BG167560 BP349421 AA351167 AW575255 AA693465 AL699458 BU627984 AI565734 
    D21260 BQ220425 AI147962 BQ425095 AU142686 AL710428 CB132860 BQ213665 
    BQ027116 CA389316 AU143023 BC015854 AI865672 AA962136 BM564672 BM853182 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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


    CLTC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Bone (Muscoskeletal System)
             Bone Marrow
    CLTC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLTC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.491351
        Pathway & Disease-focused RT2 Profiler PCR Array including CLTC: 
              Huntington's Disease in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLTC

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CLTC gene from Selected 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 92.02(n)1
    99.82(a)1
      11 (51.82 cM)5
    673001  NM_001003908.11  NP_001003908.11 
     866943515 
    chicken
    (Gallus gallus)
    Aves CLTC1 clathrin, heavy chain (Hc) 84.02(n)
    99.1(a)
      395272  NM_001080117.1  NP_001073586.1 
    lizard
    (Anolis carolinensis)
    Reptilia CLTC6
    clathrin, heavy chain (Hc)
    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
    67.91(n)1
    80.35(a)1
      325371  NM_206728.11  NP_996451.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T20G5.13
    chc-11
    Clathrin heavy chain3
    chc-11
    71(a)3
    64.92(n)1
    71.98(a)1
      III(10275533-10281067)3
    1764341  NM_066859.41  NP_499260.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CHC1(YGL206C)4
    CHC11
    Clathrin heavy chain, subunit of the major coat protein more4
    CHC11
    55.51(n)1
    50.21(a)1
      7(107504-102543)4
    8526661, 4  NP_011309.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G085301 AT3G08530 58.85(n)
    56.99(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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CLTC (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CLTC
    DNA2.0 Custom Variant and Variant Library Synthesis for CLTC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 118955    OMIM disorders: --

    Selected diseases for CLTC (see all 23):    
    About MalaCards
    tietz syndrome    tietze's syndrome    renal cell carcinoma, papillary, 1    ophthalmia neonatorum
    inflammatory myofibroblastic tumor    congenital hypothyroidism    hypothyroidism    autoimmune hepatitis
    vaccinia    huntington's disease    cholangiocarcinoma    hepatitis
    hiv-1    hepatitis c    myeloid leukemia    leukemia
    prostatitis    prostate cancer    breast cancer    multiple myeloma

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

    CLTC for disorders           About GeneDecksing

    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)
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    PubMed articles for CLTC gene, integrated from 10 sources (see all 214):
    (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. (DNA Res. 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. (Genomics 1991)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 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. (Mol. Cell. Biol. 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. (Genome Res. 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. (Nat. Biotechnol. 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. (Hum. Mol. Genet. 2001)
    9. CHC promotes tumor growth and angiogenesis through regulation of HIF-1I+ and VEGF signaling. (PubMed id 23228632)1 Tung K.H....Wu H.C. (Cancer Lett. 2013)
    10. Live-cell single-molecule imaging reveals clathrin and caveolin-1 dependent docking of SMAD4 at the cell membrane. (PubMed id 24211445)1 Yang Y....Ferrari M. (FEBS Lett. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1213 HGNC: 2092 AceView: CLTC Ensembl:ENSG00000141367 euGenes: HUgn1213
    ECgene: CLTC Kegg: 1213 H-InvDB: CLTC

    (According to HUGE)
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    HUGE: KIAA0034

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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