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PICALM Gene

protein-coding   GIFtS: 64
GCID: GC11M085668

Phosphatidylinositol Binding Clathrin Assembly Protein

  See PICALM-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
Phosphatidylinositol Binding Clathrin Assembly Protein1 2
CALM2 3 5
Clathrin Assembly Lymphoid Myeloid Leukemia Protein2 3
CLTH2 5
LAP2 5
Phosphatidylinositol-Binding Clathrin Assembly Protein2

External Ids:    HGNC: 155141   Entrez Gene: 83012   Ensembl: ENSG000000739217   OMIM: 6030255   UniProtKB: Q134923   

Export aliases for PICALM gene to outside databases

Previous GC identifers: GC11M087996 GC11M087208 GC11M085892 GC11M085396 GC11M085346 GC11M081965


(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 PICALM Gene:
This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell
membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to
determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The
protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal
translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute
lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are
associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, May 2011)

GeneCards Summary for PICALM Gene:
PICALM (phosphatidylinositol binding clathrin assembly protein) is a protein-coding gene. Diseases associated with PICALM include myeloid leukemia, and acute t cell leukemia. GO annotations related to this gene include 1-phosphatidylinositol binding and clathrin heavy chain binding. An important paralog of this gene is SNAP91.

UniProtKB/Swiss-Prot: PICAL_HUMAN, Q13492
Function: Assembly protein recruiting clathrin and adapter protein complex 2 (AP2) to cell membranes at sites of
coated-pit formation and clathrin-vesicle assembly. May be required to determine the amount of membrane to be
recycled, possibly by regulating the size of the clathrin cage. Involved in AP2-dependent clathrin-mediated
endocytosis at the neuromuscular junction

Gene Wiki entry for PICALM 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 at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PICALM gene promoter:
         HOXA9   HOXA9B   AML1a   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   CUTL1   POU3F2   Meis-1b   PPAR-alpha   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPICALM promoter sequence
   Search Chromatin IP Primers for PICALM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PICALM


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

Entrez Gene cytogenetic band: 11q14   Ensembl cytogenetic band:  11q14.2   HGNC cytogenetic band: 11q14

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M085668:  view genomic region     (about GC identifiers)

Start:
85,668,214 bp from pter      End:
85,780,924 bp from pter
Size:
112,711 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PICAL_HUMAN, Q13492 (See protein sequence)
Recommended Name: Phosphatidylinositol-binding clathrin assembly protein  
Size: 652 amino acids; 70755 Da
Subunit: Binds clathrin; involves primarily the C-terminal sequences, but the full-length protein is required for
full binding capacity. Binds phosphatidylinositol 4,5- bisphosphate. Interacts with FAM64A; this interaction may
change the subcellular location into the nucleus
Sequence caution: Sequence=BAE06099.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B4DTM3 E9PN05 F8VPG7 O60700 Q4LE54 Q6GMQ6 Q86XZ9
Alternative splicing: 5 isoforms:  Q13492-1   Q13492-2   Q13492-3   Q13492-4   Q13492-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PICALM: NX_Q13492

Explore proteomics data for PICALM at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys134, Lys318, Lys324
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_001008660.1  NP_001193875.1  NP_001193876.1  NP_009097.2  

    ENSEMBL proteins: 
     ENSP00000436958   ENSP00000433846   ENSP00000436852   ENSP00000377015   ENSP00000435807  
     ENSP00000434884   ENSP00000435311   ENSP00000348718   ENSP00000432509   ENSP00000432976  
     ENSP00000435737   ENSP00000435499   ENSP00000433166   ENSP00000433303   ENSP00000431728  
     ENSP00000436508   ENSP00000431545  
    Reactome Protein details: Q13492

    PICALM 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
    OriGene Purified Protein for PICALM
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    GenScript Custom Purified and Recombinant Proteins Services for PICALM
    Novus Biologicals PICALM Proteins
    Novus Biologicals PICALM Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PICALM

     
    Search eBioscience for Proteins for PICALM 

     
    antibodies-online proteins for PICALM (3 products) 

     
    antibodies-online peptides for PICALM

    PICALM Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PICALM
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    Abcam antibodies for PICALM
    Cloud-Clone Corp. Antibodies for PICALM
    ThermoFisher Antibodies for PICALM
    antibodies-online antibodies for PICALM (32 products) 

    PICALM Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PICALM
    Cloud-Clone Corp. CLIAs for PICALM
    eBioscience ELISAs for PICALM: (see all 2
                        Human LAP ELISA Ready-SET-Go! 2 x 96 tests w/plates
    antibodies-online kits for PICALM (14 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR011417 ANTH_dom
     IPR014712 Clathrin_Pinositid-bd_GAT-like
     IPR008942 ENTH_VHS
     IPR013809 Epsin-like_N

    Graphical View of Domain Structure for InterPro Entry Q13492

    ProtoNet protein and cluster: Q13492

    2 Blocks protein domains:
    IPB001026 Epsin N-terminal homology
    IPB013809 Epsin-like


    UniProtKB/Swiss-Prot: PICAL_HUMAN, Q13492
    Similarity: Belongs to the PICALM/SNAP91 family
    Similarity: Contains 1 ENTH (epsin N-terminal homology) domain


    Find genes that share domains with PICALM           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PICAL_HUMAN, Q13492
    Function: Assembly protein recruiting clathrin and adapter protein complex 2 (AP2) to cell membranes at sites of
    coated-pit formation and clathrin-vesicle assembly. May be required to determine the amount of membrane to be
    recycled, possibly by regulating the size of the clathrin cage. Involved in AP2-dependent clathrin-mediated
    endocytosis at the neuromuscular junction

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16491119
    GO:0005543phospholipid binding ----
    GO:00055451-phosphatidylinositol binding ISS--
    GO:0030276clathrin binding ISS--
    GO:0032050clathrin heavy chain binding IDA10436022
         
    Find genes that share ontologies with PICALM           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Picalm):
     cellular  embryogenesis  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging 

    Find genes that share phenotypes with PICALM           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Picalmtm1Towa for PICALM

       genOway: Develop your customized and physiologically relevant rodent model for PICALM

    miRNA
    Products:
        
    miRTarBase miRNAs that target PICALM:
    hsa-mir-124-3p (MIRT023209), hsa-mir-98-5p (MIRT027784), hsa-mir-155-5p (MIRT001525), hsa-mir-1 (MIRT001350), hsa-mir-30a-5p (MIRT028681)

    Block miRNA regulation of human, mouse, rat PICALM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PICALM (see all 64):
    hsa-miR-3678-3p hsa-miR-3685 hsa-miR-579 hsa-miR-520f hsa-miR-3616-5p hsa-let-7a-2* hsa-miR-30d hsa-miR-3171
    SwitchGear 3'UTR luciferase reporter plasmidPICALM 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PICALM
    Predesigned siRNA for gene silencing in human, mouse, rat PICALM

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for PICALM (see all 13)
    OriGene ORF clones in mouse, rat for PICALM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PICALM (NM_007166)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PICALM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PICALM

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PICALM

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12059) for PICALM 


    (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
    PICAL_HUMAN, Q13492: Membrane, clathrin-coated pit. Golgi apparatus. Cytoplasmic vesicle, clathrin-coated
    vesicle. Nucleus. Note=Colocalized with clathrin in the Golgi area. Interaction with FAM64A may target PICALM to
    the nucleus in some cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    nucleus4
    cytosol3
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA16491119
    GO:0005794Golgi apparatus IEA--
    GO:0005905coated pit ISS--
    GO:0030118clathrin coat ----

    Find genes that share ontologies with PICALM           About GenesLikeMe


    (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 PICALM About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    2Clathrin dependent protein traffic
    Transport Clathrin coated vesicle cycle0.66
    wtCFTR and delta508 traffic Clathrin coated vesicles formation norm and CF 0.35
    3Notch Signaling Pathways
    Notch Signaling Pathways


    Find genes that share SuperPaths with PICALM           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for PICALM
        Notch Signaling Pathways


    2 GeneGo (Thomson Reuters) Pathways for PICALM
        wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    1 Reactome Pathway for PICALM
        Golgi Associated Vesicle Biogenesis


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

        Search GeneGlobe Interaction Network for PICALM

    Selected Interacting proteins for PICALM (Q134922, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 797)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOC2Q96KP12, 3MINT-7945693 MINT-7947479 I2D: score=4 
    MDN1Q9NU222, 3MINT-7945693 MINT-7947479 I2D: score=2 
    DIAPH1O606102, 3MINT-7945693 MINT-7947479 I2D: score=1 
    HDAC1Q135472, 3MINT-7945693 MINT-7947479 I2D: score=1 
    HIP1RO751462, 3MINT-7945693 MINT-7947479 I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly TAS8643484
    GO:0006898receptor-mediated endocytosis ISS--
    GO:0007409axonogenesis IEA--
    GO:0016192vesicle-mediated transport TAS8643484
    GO:0016197endosomal transport IMP16262731

    Find genes that share ontologies with PICALM           About GenesLikeMe



    (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 PICALM (PICAL)

    3 Novoseek inferred chemical compound relationships for PICALM gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    af 10 97.4 22 9737689 (4), 10554802 (3), 12461747 (2), 9365832 (2) (see all 12)
    leucine 39.6 1 11756182 (1)
    iron 0 2 12832620 (2)



    Find genes that share compounds with PICALM           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PICALM gene (4 alternative transcripts): 
    NM_001008660.2  NM_001206946.1  NM_001206947.1  NM_007166.3  

    Unigene Cluster for PICALM:

    Phosphatidylinositol binding clathrin assembly protein
    Hs.163893  [show with all ESTs]
    Unigene Representative Sequence: NM_007166
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000532317(uc001pbk.3 uc010rtk.2 uc010rtl.2) ENST00000526033(uc001pbl.3 uc001pbm.3 uc001pbn.3)
    ENST00000530692 ENST00000526548 ENST00000393346(uc001pbo.1) ENST00000529760
    ENST00000528398 ENST00000532603 ENST00000356360 ENST00000529016 ENST00000526961
    ENST00000526907 ENST00000530542 ENST00000534375 ENST00000534412 ENST00000533350
    ENST00000531771 ENST00000531558
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PICALM (see all 64):
    hsa-miR-3678-3p hsa-miR-3685 hsa-miR-579 hsa-miR-520f hsa-miR-3616-5p hsa-let-7a-2* hsa-miR-30d hsa-miR-3171
    SwitchGear 3'UTR luciferase reporter plasmidPICALM 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PICALM
    Clone
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    OriGene ORF clones in mouse, rat for PICALM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PICALM (NM_007166)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PICALM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PICALM
    Primer
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    OriGene qPCR primer pairs and template standards for PICALM
    OriGene qSTAR qPCR primer pairs in human, mouse for PICALM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PICALM
      QuantiTect SYBR Green Assays in human, mouse, rat PICALM
      QuantiFast Probe-based Assays in human, mouse, rat PICALM
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12059) for PICALM 

    Additional mRNA sequence: 

    AB210017.1 AB451308.1 AF060928.1 AF060939.1 AF060940.1 AK128786.1 AK291414.1 AK297062.1 
    AK300275.1 BC048259.1 BC064357.1 BC073961.1 BX640931.1 CR749664.1 EF051633.1 U45976.1 

    Selected DOTS entries (see all 26):

    DT.87017228  DT.92411941  DT.102836498  DT.100788626  DT.100763707  DT.99958085  DT.95156877  DT.120717995 
    DT.100788623  DT.434615  DT.100788628  DT.100788621  DT.40111948  DT.120718082  DT.75130577  DT.120718026 
    DT.120718028  DT.120718083  DT.120718094  DT.40107327  DT.87017226  DT.91708568  DT.95156868  DT.120717971 

    Selected AceView cDNA sequences (see all 412):

    BE502874 AI859022 AA079653 AK128786 AA262144 AA994439 AA441930 AA973474 
    BQ723099 AL135734 BQ002310 CA310069 AW054705 AA156914 Z38227 T35143 
    BU734877 AI215162 BC073961 AA262862 AI360854 AW613657 AW611986 BM128631 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PICALM (see all 11)    About this scheme

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

    ExUns: 21 ^ 22a · 22b · 22c · 22d · 22e · 22f
    SP1:  -                                       
    SP2:  -                                       
    SP3:  -                                       
    SP4:  -                                       
    SP5:                                          


    ECgene alternative splicing isoforms for PICALM

    (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)
    About This Section

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


    PICALM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    PICALM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PICALM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.163893

    UniProtKB/Swiss-Prot: PICAL_HUMAN, Q13492
    Tissue specificity: Expressed in all tissues examined

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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 animals and fungi.

    Orthologs for PICALM gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Picalm1 , 5 phosphatidylinositol binding clathrin assembly protein1, 5 94.37(n)1
    97.83(a)1
      7 (50.47 cM)5
    2334891  NM_146194.41  NP_666306.21 
     901302325 
    chicken
    (Gallus gallus)
    Aves PICALM1 phosphatidylinositol binding clathrin assembly protein 87.24(n)
    95.14(a)
      425991  XM_423671.4  XP_423671.4 
    lizard
    (Anolis carolinensis)
    Reptilia PICALM6
    phosphatidylinositol binding clathrin assembly pro...
    84(a)
    1 ↔ 1
    3(200435288-200515771)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.75532 Transcribed sequence with strong similarity to protein more 84.08(n)    BX719064.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc556152 similar to phosphatidylinositol binding clathrin assembly more 76.14(n)   393901  BC045405.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta lap1 , 3 synaptic vesicle coating3
    like-AP1801
    52(a)3
    54.26(n)1
    51.25(a)1
      408631  NM_001275409.11  NP_001262338.11 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-113 Expression: neurons 58(a)   I(3799173-3805706)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YAP18026
    YAP18016
    Protein involved in clathrin cage assembly; binds ...
    Protein involved in clathrin cage assembly; binds ...
    22(a)
    20(a)
    many ↔ many
    many ↔ many
    VII(974875-976581) YGR241C
    VIII(420373-422286) YHR161C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PICALM gene
    SNAP912  
    3 SIMAP similar genes for PICALM using alignment to 14 protein entries:     PICAL_HUMAN (see all proteins):
    CALM/AF10 fusion    MLL/CALM fusion    SNAP91

    Find genes that share paralogs with PICALM           About GenesLikeMe



    (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 PICALM (see all 2672)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs355277611,2
    C--81968418(+) CAAAGATCT/-  
            
    ATTAC
    4 -- int11Minor allele frequency- -:0.00CSA 2
    rs679110821,2
    C--81968419(+) AAAGA-/AT    
       CT
    /TC
    TTACT
    4 -- int10--------
    rs714689731,2
    C--81968420(+) AAGATCTAT/-  
            
    TACTG
    4 -- int11Minor allele frequency- -:0.50NA 2
    rs2018230701,2
    C--81968421(+) AAGATC/TACTGA 4 -- int10--------
    rs348306811,2
    C--81972900(+) CTCTG-/TTATGT 4 -- int12Minor allele frequency- T:0.00NA CSA 4
    rs569766691,2
    C--81974034(+) TGTTTG/TTTTTT 4 -- int11Minor allele frequency- T:0.00WA 2
    rs1429849731,2
    C--81975591(+) GATTT-/CTACCTTT 4 -- int10--------
    rs105512521,2
    C--81975592(+) ATTTCTAC/-CTTTT 4 -- int11Minor allele frequency- -:0.50NA 2
    rs105623821,2
    F--81975593(+) GATTT-/CT    
       A
    /TAC
    CCTTT
    12 -- int1 cds15EU EA NA MN 430
    rs803426121,2
    C--81976154(+) CTGCA-/AACAACAA 4 -- cds10--------

    HapMap Linkage Disequilibrium report for PICALM (85668214 - 85780924 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PICALM:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv164n27CNV Loss19166990
    nsv898054CNV Loss21882294
    nsv469975CNV Gain18288195

    Human Gene Mutation Database (HGMD): PICALM
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603025   
    OMIM disorders: 601626  
    UniProtKB/Swiss-Prot: PICAL_HUMAN, Q13492
  • Note=A chromosomal aberration involving PICALM is found in diffuse histiocytic lymphomas. Translocation
    t(10;11)(p13;q14) with MLLT10

  • 9 diseases for PICALM:    
    About MalaCards
    myeloid leukemia    acute t cell leukemia    lymphoblastic leukemia    leukemia
    acute myeloid leukemia    thyroid lymphoma    auditory neuropathy    precursor t-cell acute lymphoblastic leukemia
    alzheimer's disease

    3 diseases from the University of Copenhagen DISEASES database for PICALM:
    Thyroid lymphoma     Alzheimer's disease     Autoimmune thyroiditis

    Find genes that share disorders with PICALM           About GenesLikeMe

    8 Novoseek inferred disease relationships for PICALM gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myeloid leukemia 76.2 9 12461747 (1), 9365832 (1), 11161218 (1), 14985334 (1) (see all 9)
    t-all 74.7 2 16107895 (1), 16921363 (1)
    lymphoma large cell diffuse 59.1 1 9737689 (1)
    leukemogenesis 57.1 1 12461747 (1)
    leukemia 48.5 7 12461747 (1), 9737689 (1), 12832620 (1), 16107895 (1) (see all 6)
    hematologic malignancies 41.2 1 9737689 (1)
    lymphoblastic leukemia acute 36.7 1 10637482 (1)
    lymphoma 23.2 1 12832620 (1)

    Genetic Association Database (GAD): PICALM
    Human Genome Epidemiology (HuGE) Navigator: PICALM (23 documents)

    Export disorders for PICALM 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 PICALM gene, integrated from 10 sources (see all 114):
    (articles sorted by number of sources associating them with PICALM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The t(10;11)(p13;q14) in the U937 cell line results in the fusion of the AF10 gene and CALM, encoding a new member of the AP-3 clathrin assembly protein family. (PubMed id 8643484)1, 2, 3, 9 Dreyling M.H....Bohlander S.K. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    2. Alternative splicing in wild-type AF10 and CALM cDNAs and in AF10- CALM and CALM-AF10 fusion cDNAs produced by the t(10;11)(p13-14;q14- q21) suggests a potential role for truncated AF10 polypeptides. (PubMed id 9737689)1, 2, 9 Silliman C.C.... Hunger S.P. (Leukemia 1998)
    3. The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. (PubMed id 21627779)1, 4 AntA_nez C....Ruiz A. (Genome Med 2011)
    4. The role of clusterin, complement receptor 1, and phosphatidylinositol binding clathrin assembly protein in Alzheimer disease risk and cerebrospinal fluid biomarker levels. (PubMed id 21300948)1, 4 Schjeide B.M....Bertram L. (Arch. Gen. Psychiatry 2011)
    5. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. (PubMed id 21460841)1, 4 Naj A.C....Schellenberg G.D. (Nat. Genet. 2011)
    6. Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. (PubMed id 20534741)1, 4 Corneveaux J.J....Huentelman M.J. (Hum. Mol. Genet. 2010)
    7. Replication of CLU, CR1, and PICALM associations with alzheimer disease. (PubMed id 20554627)1, 4 Carrasquillo M.M....Younkin S.G. (Arch. Neurol. 2010)
    8. Genome-wide analysis of genetic loci associated with Alzheimer disease. (PubMed id 20460622)1, 4 Seshadri S.... . (JAMA 2010)
    9. Genetic variation and neuroimaging measures in Alzheimer disease. (PubMed id 20558387)1, 4 Biffi A....Rosand J. (Arch. Neurol. 2010)
    10. Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. (PubMed id 20697030)1, 4 Jun G....Schellenberg G.D. (Arch. Neurol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 8301 HGNC: 15514 AceView: PICALM Ensembl:ENSG00000073921 euGenes: HUgn8301
    ECgene: PICALM H-InvDB: PICALM

    (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 PICALM Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PICALM 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 PICALM gene:
    Search GeneIP for patents involving PICALM

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



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