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CLTCL1 Gene

protein-coding   GIFtS: 60
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   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 Chromatin IP Primers for CLTCL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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)
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: 

  • Ubiquitination2 at Lys453, Lys507, Lys911, Lys1034, Lys1347, Lys1449
  • Modification sites at PhosphoSitePlus

  • See CLTCL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000439662   ENSP00000445677   ENSP00000424145   ENSP00000443582   ENSP00000396140  
     ENSP00000443264   ENSP00000441158  
    Reactome Protein details: P53675

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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 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,
    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: 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:    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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    (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
    CLH2_HUMAN, P53675: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol2
    golgi apparatus2
    plasma membrane2
    endosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (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


    (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 CLTCL1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    Synaptic vesicle cycle0.50
    2Gap junction trafficking
    Gap junction trafficking0.93
    Formation of annular gap junctions0.00
    Gap junction trafficking and regulation0.93
    Gap junction degradation0.00
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.45
    4Clathrin derived vesicle budding
    Membrane Trafficking0.32
    5Notch Signaling Pathways
    Notch Signaling Pathways

    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

    2 Reactome Pathways for CLTCL1
        Gap junction degradation
    Formation of annular gap junctions


    Selected 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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CLTCL1
    Interactions:

        GeneGlobe Interaction Network for CLTCL1

    Selected 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): Selected biological process terms (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, 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 CLTCL1 (CLH2)

    1 HMDB Compound for CLTCL1    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 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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    6 qRT-PCR Assays for microRNAs that regulate CLTCL1:
    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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      QuantiFast Probe-based Assays in human, mouse, rat CLTCL1

    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 

    Selected AceView cDNA sequences (see all 87):

    BF342869 BM705364 AL044161 X95487 AL046483 BM726439 CD723787 BE746384 
    H55705 BM987320 BM696567 BQ719540 AK125929 BM683711 AL044160 AI184551 
    BE745822 BX117519 AA196650 BU734745 AA515896 BV207884 BQ446875 BQ014416 

    GeneLoc Exon Structure

    Selected 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™, 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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    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

    CLTCL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLTCL1 Protein Expression

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

    Orthologs for CLTCL1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia CLTCL11 clathrin, heavy chain-like 1 90.13(n)
    92.66(a)
      477568  XM_005636594.1  XP_005636651.1 
    chicken
    (Gallus gallus)
    Aves CLTCL11 clathrin, heavy chain-like 1 79.13(n)
    90.02(a)
      416765  XM_004945479.1  XP_004945536.1 
    lizard
    (Anolis carolinensis)
    Reptilia CLTCL16
    clathrin, heavy chain-like 1
    89(a)
    1 ↔ 1
    GL343282.1(864633-910346)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004923111 clathrin heavy chain 1-like 77.19(n)
    88.31(a)
      100492311  XM_004910576.1  XP_004910633.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CLTCL1 (2 of 2)6
    CLTCL1 (1 of 2)6
    clathrin, heavy chain-like 1
    82(a)
    66(a)
    many → 1
    many → 1
    8(2189556-2231293) ENSDARG00000091618
    8(2240226-2242278) ENSDARG00000088853
    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) YGL206C
    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)
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    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), 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)
    About This Section

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    Selected SNPs for CLTCL1 (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
    ----------
    rs17715431,2
    F--19172862(-) gactcT/Cgtctc 2 -- int11Minor allele frequency- C:0.43MN 184
    rs677578571,2
    C--19174126(+) TTTTT-/ATTCCG 2 -- int10--------
    rs763847241,2
    C--19174855(+) ATCCA-/AACA  
            
    GTTTT
    2 -- int10--------
    rs670067311,2
    C--19175920(+) AGCCT-/TGTAAGTG 2 -- cds10--------
    rs1469588161,2
    C--19175975(+) AAAAAC/TATTTT 2 -- int10--------
    rs670214691,2
    C--19179576(+) TCATC-/T/TT  
            
    TTTTT
    2 -- int10--------
    rs1482402861,2
    C--19180815(+) TGCCAC/TGTTCC 2 -- int10--------
    rs559554441,2
    C--19183057(+) AGTTA-/GTTA  
            
    CCCAA
    2 -- int10--------
    rs3735339361,2
    C--19184266(+) TGACTA/GGAATG 2 -- int10--------
    rs2011733381,2
    C--19187394(+) CAGGAC/TACAGC 2 -- int11Minor allele frequency- T:0.00EU 445

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601273    OMIM disorders: --

    12 diseases for CLTCL1:    
    About MalaCards
    pulmonary valve stenosis    meningioma    atrioventricular septal defect    digeorge syndrome
    ventricular septal defect    tetralogy of fallot    huntington's disease    atherosclerosis
    cystic fibrosis    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)
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    PubMed articles for CLTCL1 gene, integrated from 10 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. (Genomics 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. (Hum. Mol. Genet. 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. (Mol. Med. 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. (Mol. Biol. Cell 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Hum. Mol. Genet. 1996)
    7. Autophagy negatively regulates cancer cell proliferation via selectively targeting VPRBP. (PubMed id 22963397)1 Wang B.S....Wang M.R. (Clin. Sci. 2013)
    8. Clathrin promotes centrosome integrity in early mitosis through stabilization of centrosomal ch-TOG. (PubMed id 22891263)1 Foraker A.B....Brodsky F.M. (J. Cell Biol. 2012)
    9. Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. (PubMed id 22916037)1 Inouye M....de Bakker P.I. (PLoS Genet. 2012)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

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

    (According to HUGE)
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      --

    (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 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.)
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    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



    (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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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