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

CLTC Gene

protein-coding   GIFtS: 67
GCID: GC17P057697

clathrin, heavy chain (Hc)

(Previous names: clathrin, heavy polypeptide (Hc), clathrin, heavy chain,...)
(Previous symbol: CLTCL2)
 Explore 18 diseases affiliated with
CLTC via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CLTC    

Aliases
for CLTC gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Clathrin, Heavy Chain (Hc)1 2     Clathrin, Heavy Chain1
CLTCL21 2 3     CHC2
Hc1 2     CHC172
Clathrin, Heavy Polypeptide (Hc)1 2     Clathrin Heavy Chain 12
Clathrin, Heavy Polypeptide-Like 21 2     CLH173
Clathrin Heavy Chain On Chromosome 172 3     KIAA00343
CLH-172 3     

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


Summaries
for CLTC gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
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 plasmid: CLTC 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: 17q11-qter   Ensembl cytogenetic band:  17q23.1   HGNC cytogenetic band: 17q11-qter

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

Proteins
for CLTC gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q00610

    • CLTC Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004850.1  
    ENSEMBL proteins: 
     ENSP00000376763   ENSP00000269122   ENSP00000462592   ENSP00000462252   ENSP00000463336  
     ENSP00000463068   ENSP00000465200   ENSP00000461977  
    Reactome Protein details: Q00610
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
    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 ProSpec Recombinant Proteins
    Uscn Proteins for CLTC

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    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



    CLTC Antibody Products: 
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    R&D Systems Antibodies for CLTC (Clathrin Heavy Chain 1/CHC17)
    Cell Signaling Technology (CST) Antibodies for CLTC 
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    Novus Biologicals CLTC Antibodies
    Search for Antibodies for CLTC at Abcam  
    Uscn Antibodies for CLTC
    ThermoFisher Antibody for CLTC

    Assay Products for CLTC: 
    Browse Kits and Assays available from EMD Millipore
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    Browse OriGene Fluorogenic Cell Assay Kits
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    GenScript Custom Assay Services for CLTC
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CLTC

    Protein Domains /
    Families
    for CLTC gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CLTC for domains           About GeneDecksing

    5/8 InterPro domains/families (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 family: 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


    Function
    for CLTC gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: CLTC
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CLTC
    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
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): CLTC 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLTC (see all 7)
    OriGene shRNA RFP: CLTC
    OriGene siRNA: CLTC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CLTC

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CLTC (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CLTC (see all 2)
    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
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLTC 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for CLTC
    Search LifeMap BioReagents cell lines for CLTC

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLTC

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS1765375
    GO:0005515protein binding IPI12429846


    CLTC for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for CLTC gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/22 super-pathways (see all 22) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Clathrin-dependent protein traffic
    		Clathrin-dependent protein traffic1.00
    		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
    2Clathrin derived vesicle budding
    		Clathrin derived vesicle budding1.00
    		Golgi Associated Vesicle Biogenesis0.89
    		trans-Golgi Network Vesicle Budding1.00
    		Lysosome Vesicle Biogenesis0.39
    3Formation of annular gap junctions
    		Formation of annular gap junctions1.00
    		Lysosomal degradation of gap junction plaques0.92
    		Gap junction degradation0.92
    4Transport of MHC II:Ii complex along Golgi to TGN
    		Internalization of MHC II:Ii clathrin coated vesicle0.52
    		Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)0.00
    		Endocytic Trafficking of EGFR0.00
    5Immune System
    		Immune System1.00
    		Adaptive Immune System0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    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 
        Synaptic Vesicle Pathway
    Kit Receptor Signaling Pathway
    IL-7 Signaling Pathway
    Arf6 trafficking events
    FAS (CD95) signaling pathway

    5/14        Reactome Pathways for CLTC (see all 14)
        Gap junction degradation
    Internalization of MHC II:Ii clathrin coated vesicle
    Membrane Trafficking
    Clathrin derived vesicle budding
    Formation of annular gap junctions


    5         Kegg Pathways  (Kegg details for CLTC):
        Lysosome
    Endocytosis
    Endocrine and other factor-regulated calcium reabsorption
    Huntington's disease
    Bacterial invasion of epithelial cells


    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)

    5/327 Interacting proteins for CLTC (Q006102, 3 ENSP000002691224) via UniProtKB, MINT, STRING, and/or I2D (see all 327)
    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): 5/12 biological process terms (GO ID links to tree view) (see all 12):    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:0007173epidermal growth factor receptor signaling pathway TAS--


    CLTC for ontologies           About GeneDecksing



    Drugs & Compounds
    for CLTC gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 

    Transcripts
    for CLTC gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CLTC
    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
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): CLTC 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLTC (see all 7)
    OriGene shRNA RFP: CLTC
    OriGene siRNA: CLTC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CLTC
    Clone
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    Primer
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    Additional cDNA sequence: 

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

    24/48 DOTS entries (see all 48):

    DT.219977  DT.91887587  DT.95338490  DT.120930523  DT.95155315  DT.95367945  DT.120930620  DT.100882683 
    DT.100672405  DT.92471783  DT.100728189  DT.100882689  DT.120930474  DT.95367962  DT.100882690  DT.97864554 
    DT.86992908  DT.92471757  DT.95367929  DT.120930529  DT.120930740  DT.304623  DT.95367944  DT.100882680 

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

    H08813 AL699444 BQ213407 CA448096 BE302265 NM_004859 CB136092 CA444764 
    BQ224490 AU129939 AA126442 BM993074 AI371863 T28891 CN481721 AU132103 
    BF438908 BP362844 CR625967 BM786443 BC051800 AW188169 AA579628 AI954294 

    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

    Expression
    for CLTC gene

    (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
    CGAP TAG: ATTCCAATCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CLTC expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLTC

    Orthologs
    for CLTC gene

    (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 9/38 species (see all 38)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 99(a)
    		 1 ↔ 1
    		 GL343470.1(313792-394078)
    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 
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 clathrin heavy chain, putative, expressed
    		 55(a)
    55(a)
    		 many ↔ many
    many ↔ many
    		 11(233174-243464)
    12(248725-258877)


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

    Paralogs
    for CLTC gene

    (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



    Genomic Variants
    for CLTC gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1125 NCBI SNPs in CLTC are shown (see all 1125)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs733311381,2
    		C,--53080343(+) CAGTCC/ACTCTC 1 -- nc-transcript-variant3Minor allele frequency- A:0.17WA 122
    rs765716961,2
    		F,--53080648(+) TACAAG/ATTTTT 1 -- nc-transcript-variant1Minor allele frequency- A:0.14WA 118
    rs733311391,2
    		C,--53081159(+) TGCTCA/TGGCAT 1 -- nc-transcript-variant3Minor allele frequency- T:0.17WA 122
    rs787048121,2
    		F,--53081359(+) AAACAA/GTTGGT 1 -- nc-transcript-variant1Minor allele frequency- G:0.02NA 120
    rs587648611,2
    		C,--53081933(+) GGTCAA/GGAGAT 1 -- ds50011Minor allele frequency- G:0.00WA 2
    rs616223691,2
    		--53082000(+) TAGCTA/GGGCGC 1 -- ds50011Minor allele frequency- G:0.00NA 2
    rs1473106871,2
    		--57695291(+) TGTACA/TTAAAG 1 -- us2k10--------
    rs1808658771,2
    		--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

    HapMap Linkage Disequilibrium report for CLTC (57697050 - 57774317 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CLTC: --

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    DNA2.0 Custom Variant and Variant Library Synthesis for CLTC

    Disorders / Diseases
    for CLTC gene

    (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.)
    About This Section
    CLTC for disorders           About GeneDecksing

    OMIM gene information: 118955    OMIM disorders: --

    18 diseases for CLTC:    About MalaCards
    ophthalmia neonatorum    tietz syndrome    tietze's syndrome    autoimmune hepatitis
    hepatitis c    huntington's disease    myeloid leukemia    hepatitis b
    hepatitis    cholangiocarcinoma    prostate cancer    myeloma
    leukemia    cholesterol    prostatitis    immunodeficiency
    malaria    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for CLTC:
    Congenital hypothyroidism     Hepatitis     Hepatitis C     Tietze's syndrome
    Human Genome Epidemiology (HuGE) Navigator: CLTC (4 documents)

    Export disorders for CLTC gene to outside databases

    Publications
    for CLTC gene

    (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 180):
    (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. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    4. 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)
    5. 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)
    6. 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)
    7. Clathrin promotes centrosome integrity in early mitosi s through stabilization of centrosomal ch-TOG. (PubMed id 22891263)1 Foraker A.B....Brodsky F.M. (2012)
    8. Protein phosphatase 1a interacting proteins in the hum an brain. (PubMed id 22321011)1 Esteves S.L....da Cruz e Silva E.F. (2012)
    9. Intersectin (ITSN) family of scaffolds function as mol ecular hubs in protein interaction networks. (PubMed id 22558309)1 Wong K.A....O'Bryan J.P. (2012)
    10. Characterization of the protein ubiquitination respons e induced by Doxorubicin. (PubMed id 22536838)1 Mandili G....Turrini F. (2012)

    External Searches for CLTC gene

    (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)

    Genome Databases showing CLTC gene

    (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

    Other Databases showing CLTC gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0034

    Specialized Databases showing CLTC gene

    (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

    Intellectual Property
    for CLTC gene

    (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



    Products
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    About This Section

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