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

CLTCL1 Gene

protein-coding   GIFtS: 61
GCID: GC22M019171

Clathrin, Heavy Chain-Like 1

(Previous names: clathrin, heavy polypeptide-like 1)
(Previous symbol: CLTCL)
  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-Like 11 2     CLH-222 3
CLTCL1 2 3     CLH222 3
CLTD2 3 5     CHC222
Clathrin, Heavy Polypeptide-Like 11 2     Clathrin Heavy Chain 22
Clathrin Heavy Chain On Chromosome 222 3     Clathrin, Heavy Polypeptide D2

External Ids:    HGNC: 20931   Entrez Gene: 82182   Ensembl: ENSG000000703717   OMIM: 6012735   UniProtKB: P536753   

Export aliases for CLTCL1 gene to outside databases

Previous GC identifers: GC22M016107 GC22M017541 GC22M002788


(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 CLTCL1 Gene:
This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of
coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge
syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Jun 2009)

GeneCards Summary for CLTCL1 Gene: 
CLTCL1 (clathrin, heavy chain-like 1) is a protein-coding gene. Diseases associated with CLTCL1 include pulmonary valve stenosis, and meningioma, and among its related super-pathways are Synaptic Vesicle Pathway and Gap junction degradation. GO annotations related to this gene include structural molecule activity and signal transducer activity. An important paralog of this gene is CLTC.

UniProtKB/Swiss-Prot: CLH2_HUMAN, P53675
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 (By
similarity)




(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_000022.10  NT_011519.10  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CLTCL1 gene promoter:
         NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLTCL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CLTCL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLTCL1


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.2

CLTCL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLTCL1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M019171:  view genomic region     (about GC identifiers)

Start:
19,166,986 bp from pter      End:
19,279,239 bp from pter
Size:
112,254 bases      Orientation:
minus 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: CLH2_HUMAN, P53675 (See protein sequence)
Recommended Name: Clathrin heavy chain 2  
Size: 1640 amino acids; 187030 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 (By similarity). May interact with OCRL (By similarity)
Subcellular location: Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side (By similarity).
Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side (By similarity). Note=Cytoplasmic face of
coated pits and vesicles (By similarity)
Secondary accessions: B7Z7U5 Q14017 Q15808 Q15809
Alternative splicing: 2 isoforms:  P53675-1   P53675-2   

Explore the universe of human proteins at neXtProt for CLTCL1: NX_P53675

Explore proteomics data for CLTCL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P53675

  • CLTCL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CLTCL1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001826.3  NP_009029.3  

    ENSEMBL proteins: 
     ENSP00000439662   ENSP00000445677   ENSP00000424145   ENSP00000443582   ENSP00000396140  
     ENSP00000443264   ENSP00000441158  
    Reactome Protein details: P53675
    Human Recombinant Protein Products for CLTCL1: 
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    Cloud-Clone Corp. Proteins for CLTCL1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005802trans-Golgi network IDA19509056
    GO:0005819spindle IDA19509056
    GO:0005905coated pit IDA19509056
    GO:0030130clathrin coat of trans-Golgi network vesicle IEA--
    GO:0030132clathrin coat of coated pit IEA--

    CLTCL1 for ontologies           About GeneDecksing



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    (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 P53675

    ProtoNet protein and cluster: P53675

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

    UniProtKB/Swiss-Prot: CLH2_HUMAN, P53675
    Domain: The C-terminal third of the heavy chains forms the hub of the triskelion. This region contains the
    trimerization domain and the light-chain binding domain involved in the assembly of the clathrin lattice
    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 (By similarity)
    Similarity: Belongs to the clathrin heavy chain family
    Similarity: Contains 7 CHCR (clathrin heavy-chain) repeats


    CLTCL1 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: CLH2_HUMAN, P53675
    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 (By
    similarity)

         Genatlas biochemistry entry for CLTCL1:
    clathrin heavy chain-like sequence in the DiGeorge critical region (DGCR)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity TAS8844170
    GO:0005198structural molecule activity IEA--
    GO:0005488binding ----
    GO:0005515protein binding IPI19478182
         
    CLTCL1 for ontologies           About GeneDecksing


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    SwitchGear 3'UTR luciferase reporter plasmidCLTCL1 3' UTR sequence
    Inhib. RNA
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    (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 CLTCL1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Synaptic vesicle cycle
    Synaptic vesicle cycle0.50
    Synaptic Vesicle Pathway0.50
    2Formation of annular gap junctions
    Formation of annular gap junctions0.92
    Gap junction degradation0.92
    3Gap junction trafficking
    Gap junction trafficking0.74
    Gap junction trafficking and regulation0.70
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.47
    5Membrane Trafficking
    Membrane Trafficking0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for CLTCL1
        Notch Signaling Pathways


    1 BioSystems Pathway for CLTCL1
        Synaptic Vesicle Pathway

    5        Reactome Pathways for CLTCL1
        Gap junction degradation
    Gap junction trafficking
    Membrane Trafficking
    Formation of annular gap junctions
    Gap junction trafficking and regulation


    5/6         Kegg Pathways  (Kegg details for CLTCL1) (see all 6):
        Lysosome
    Endocytosis
    Synaptic vesicle cycle
    Endocrine and other factor-regulated calcium reabsorption
    Huntington's disease


    CLTCL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CLTCL1

    5/67 Interacting proteins for CLTCL1 (P536752, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIP1O002912, 3MINT-17143 MINT-17146 MINT-17144 MINT-17145 I2D: score=1 
    TNFRSF1AP194382, 3MINT-49324 I2D: score=2 
    EGFRP005333I2D: score=3 
    GABARAPO951663I2D: score=2 
    GABARAPL1Q9H0R83I2D: score=2 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0006898receptor-mediated endocytosis IDA19509056
    GO:0007067mitosis IDA19509056
    GO:0007165signal transduction TAS8844170
    GO:0009653anatomical structure morphogenesis TAS8733128

    CLTCL1 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 CLTCL1 (CLH2)

    1 HMDB Compound for CLTCL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about CLTCL1 / CLH2

    (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 CLTCL1 gene (2 alternative transcripts): 
    NM_001835.3  NM_007098.3  

    Unigene Cluster for CLTCL1:

    Clathrin, heavy chain-like 1
    Hs.368266  [show with all ESTs]
    Unigene Representative Sequence: U41763
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000353891 ENST00000263200(uc011agt.2 uc021wlc.1 uc021wld.1 uc021wle.1 uc021wlf.1 uc011agw.1)
    ENST00000412649 ENST00000442042(uc011agu.2) ENST00000536806 ENST00000413132(uc002zpd.1 uc002zpe.2)
    ENST00000505027(uc010grm.1) ENST00000538828 ENST00000458188 ENST00000540896
    ENST00000449918 ENST00000427926
    miRNA
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    hsa-miR-485-5p hsa-miR-548p hsa-miR-4271 hsa-miR-889 hsa-miR-24 hsa-miR-545
    SwitchGear 3'UTR luciferase reporter plasmidCLTCL1 3' UTR sequence
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    Additional mRNA sequence: 

    AK294147.1 AK295264.1 AK302506.1 BC113030.1 BC143977.1 BC143979.1 L77568.1 U41763.1 
    U60802.1 X95486.1 X95487.1 

    11 DOTS entries:

    DT.120675400  DT.441648  DT.120675390  DT.97786759  DT.120675327  DT.40221057  DT.120675336  DT.92419638 
    DT.120675350  DT.434003  DT.95149798 

    24/87 AceView cDNA sequences (see all 87):

    H55705 BM987320 BF342869 AK125929 BE746384 BM726439 BM705364 AL044160 
    BQ719540 X95487 BM696567 AL044161 AL046483 BM683711 CD723787 AA888986 
    BF897832 BX117519 AW262225 BM755090 BV181778 CA449901 CD107416 AA897278 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CLTCL1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:              -                                                     -                                                                                       
    SP2:              -                                                     -                                                                                       
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for CLTCL1

    (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

    CLTCL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACACGTCTT
    CLTCL1 Expression
    About this image


    See CLTCL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLTCL1

    SOURCE GeneReport for Unigene cluster: Hs.368266

    UniProtKB/Swiss-Prot: CLH2_HUMAN, P53675
    Tissue specificity: Maximal levels in skeletal muscle. High levels in heart and testis. Low expression detected in
    all other tissues

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    In Situ
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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 CLTCL1 gene from 9/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia CLTCL11 clathrin, heavy chain-like 1 90.06(n)
    92.53(a)
      477568  XM_534763.3  XP_534763.3 
    chicken
    (Gallus gallus)
    Aves CLTCL11 clathrin, heavy chain-like 1 79.13(n)
    90.02(a)
      416765  XM_415060.3  XP_415060.2 
    lizard
    (Anolis carolinensis)
    Reptilia CLTCL16
    clathrin, heavy chain-like 1
    89(a)
    1 ↔ 1
    GL343282.1(864633-910346)
    zebrafish
    (Danio rerio)
    Actinopterygii CLTCL1 (1 of 2)6
    CLTCL1 (2 of 2)6
    clathrin, heavy chain-like 1
    82(a)
    63(a)
    many → 1
    many → 1
    8(2189556-2231293)
    8(2240226-2242278)
    fruit fly
    (Drosophila melanogaster)
    Insecta Chc3 synaptic vesicle coating 75(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea T20G5.13 Clathrin heavy chain 66(a)   III(10275533-10281067)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CHC16
    Clathrin heavy chain, subunit of the major coat pr...
    48(a)
    1 → many
    VII(102543-107504)
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.51522 Vitis vinifera transcribed sequence with moderate similarity more 72.11(n)    CB969031.1 
    corn
    (Zea mays)
    Liliopsida Zm.121192 Zea mays PCO092520 mRNA sequence 72.65(n)    AY103752.1 


    ENSEMBL Gene Tree for CLTCL1 (if available)
    TreeFam Gene Tree for CLTCL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CLTCL1 gene
    CLTC2  
    1 SIMAP similar gene for CLTCL1 using alignment to 6 protein entries:     CLH2_HUMAN (see all proteins):
    CLTC

    CLTCL1 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

    10/773 SNPs in CLTCL1 are shown (see all 773)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0592154
    ----see VAR_0592152 M V mis40--------
    VAR_0556564
    ----see VAR_0556562 E K mis40--------
    VAR_0556534
    ----see VAR_0556532 P L mis40--------
    VAR_0556544
    ----see VAR_0556542 K R mis40--------
    VAR_0592164
    ----see VAR_0592162 I T mis40--------
    VAR_0556554
    ----see VAR_0556552 Y C mis40--------
    VAR_0592184
    ----see VAR_0592182 R H mis40--------
    VAR_0556584
    ----see VAR_0556582 R H mis40--------
    VAR_0592174
    ----see VAR_0592172 V M mis40--------
    VAR_0556574
    ----see VAR_0556572 K R mis40--------

    HapMap Linkage Disequilibrium report for CLTCL1 (19166986 - 19279239 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/21 variations for CLTCL1 (see all 21):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1007063CNV Deletion20482838
    esv2676900CNV Deletion23128226
    esv2664681CNV Deletion23128226
    esv2672843CNV Deletion23128226
    nsv435744CNV Deletion17901297
    esv272289CNV Insertion20981092
    nsv513584CNV Insertion21212237
    esv273055CNV Insertion20981092
    esv272049CNV Insertion20981092
    esv2532331CNV Insertion19546169


    Human Gene Mutation Database (HGMD): CLTCL1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CLTCL1
    DNA2.0 Custom Variant and Variant Library Synthesis for CLTCL1

    (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: 601273    OMIM disorders: --

    12 diseases for CLTCL1:    About MalaCards
    pulmonary valve stenosis    meningioma    ventricular septal defect    digeorge syndrome
    atrioventricular septal defect    tetralogy of fallot    velocardiofacial syndrome    huntington's disease
    atherosclerosis    myeloid leukemia    leukemia    breast cancer

    3 diseases from the University of Copenhagen DISEASES database for CLTCL1:
    Tetralogy of Fallot     Ventricular septal defect     Atrioventricular septal defect

    CLTCL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CLTCL1
    Human Genome Epidemiology (HuGE) Navigator: CLTCL1 (1 document)

    Export disorders for CLTCL1 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 CLTCL1 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with CLTCL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL). (PubMed id 8844170)1, 2, 3 Long K.R.... Buckler A.J. (1996)
    2. Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome. (PubMed id 8733128)1, 2, 9 Sirotkin H.... Kucherlapati R. (1996)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Clathrin isoform CHC22, a component of neuromuscular and myotendinous junctions, binds sorting nexin 5 and has increased expression during myogenesis and muscle regeneration. (PubMed id 15133132)1, 3 Towler M.C....Brodsky F.M. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11. (PubMed id 8733129)1, 2 Kedra D....Dumanski J.P. (1996)
    7. Autophagy negatively regulates cancer cell proliferati on via selectively targeting VPRBP. (PubMed id 22963397)1 Wang B.S....Wang M.R. (2013)
    8. 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)
    9. Novel Loci for metabolic networks and multi-tissue exp ression studies reveal genes for atherosclerosis. (PubMed id 22916037)1 Inouye M....de Bakker P.I. (2012)
    10. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)

    (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: 8218 HGNC: 2093 AceView: CLTCL1 Ensembl:ENSG00000070371 euGenes: HUgn8218
    ECgene: CLTCL1 Kegg: 8218 H-InvDB: CLTCL1

    (According to HUGE)
    About This Section
      --

    (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 CLTCL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CLTCL1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CLTCL1 gene:
    Search GeneIP for patents involving CLTCL1

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



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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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