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

PICALM Gene

protein-coding   GIFtS: 61
GCID: GC11M085668

phosphatidylinositol binding clathrin assembly protein
 Explore 20 diseases affiliated with
PICALM via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PICALM    

Aliases
for PICALM gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Phosphatidylinositol Binding Clathrin Assembly Protein1 2
CALM1 2 3 5
CLTH1 2 5
Clathrin Assembly Lymphoid Myeloid Leukemia Protein2 3
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


Summaries
for PICALM gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PICALM:
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)

UniProtKB/Swiss-Prot: PICAL_HUMAN, Q13492
Function: Assembly protein recruiting clathrin and adaptor 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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences 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 plasmid: PICALM promoter sequence
   Search SABiosciences Chromatin IP Primers for PICALM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 85,668,485 bp from pter      End:
 85,780,924 bp from pter
Size:
 112,440 bases      Orientation:
 minus strand

Proteins
for PICALM gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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
Subcellular location: Membrane, clathrin-coated pit. Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle.
Note=Colocalized with clathrin in the Golgi area
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13492

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

    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   ENSP00000396321  
    Reactome Protein details: Q13492
    Human Recombinant Protein Products: 
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    Novus Biologicals PICALM Proteins
    Novus Biologicals PICALM Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PICALM

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (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 ----


    PICALM for ontologies           About GeneDecksing



    PICALM Antibody Products: 
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    Uscn Antibodies for PICALM
    ThermoFisher Antibodies for PICALM

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    Uscn ELISAs and CLIAs for PICALM

    Protein Domains /
    Families
    for PICALM gene

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

    4 InterPro domains/families:
     IPR011417 ANTH
     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 families:
    IPB001026 Epsin N-terminal homology
    IPB013809 Epsin-like


    UniProtKB/Swiss-Prot: PICAL_HUMAN, Q13492
    Similarity: Contains 1 ENTH (epsin N-terminal homology) domain


    Function
    for PICALM gene

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

         UniProtKB/Swiss-Prot: PICAL_HUMAN, Q13492
    Function: Assembly protein recruiting clathrin and adaptor 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

    miRNA
    Products:            		miRTarBase miRNAs that target PICALM:
    hsa-mir-155 (MIRT001525), hsa-mir-1 (MIRT001350)

    OriGene 3'-UTR Clone (see all 2): PICALM
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PICALM
    8/64 QIAGEN miScript miRNA 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 plasmid: PICALM 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PICALM (see all 7)
    OriGene shRNA RFP: PICALM
    OriGene siRNA: PICALM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PICALM

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PICALM (see all 6)
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    Cell Line
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    Search LifeMap BioReagents cell lines for PICALM

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

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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


    PICALM for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Picalmtm1Towa for PICALM
         8 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Picalm):
     cellular  embryogenesis  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging 

    PICALM for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PICALM gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Clathrin derived vesicle budding
    		Clathrin derived vesicle budding1.00
    		Golgi Associated Vesicle Biogenesis0.89
    		trans-Golgi Network Vesicle Budding1.00
    2Clathrin-dependent protein traffic
    		Transport_Clathrin-coated vesicle cycle0.66
    		wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)0.35
    3Membrane Trafficking
    		Membrane Trafficking1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    4        Reactome Pathways for PICALM
        Membrane Trafficking
    Clathrin derived vesicle budding
    Golgi Associated Vesicle Biogenesis
    trans-Golgi Network Vesicle Budding



    PICALM for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PICALM

    5/761 Interacting proteins for PICALM (Q134922, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 761)
    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): 5/13 biological process terms (GO ID links to tree view) (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


    PICALM for ontologies           About GeneDecksing



    Drugs & Compounds
    for PICALM gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PICALM for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PICALM
    3 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about PICALM / PICAL 

    Transcripts
    for PICALM gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    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
    Products:             		 OriGene 3'-UTR Clone (see all 2): PICALM
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PICALM
    8/64 QIAGEN miScript miRNA 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 plasmid: PICALM 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PICALM (see all 7)
    OriGene shRNA RFP: PICALM
    OriGene siRNA: PICALM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PICALM
    Clone
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    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)
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    Primer
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    Additional cDNA 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 

    24/26 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 

    24/412 AceView cDNA sequences (see all 412):

    AA262862 BU194523 AA766851 BQ719585 BF057867 AI952609 BE464948 AI432460 
    C01096 AA159793 AW611986 BM716709 BM710709 BM128631 AW105442 BE018446 
    BP373238 AI056121 BE645669 BF477518 AI224998 AA404561 CA424270 BC064357 

    GeneLoc Exon Structure

    5/11 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

    Expression
    for PICALM gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PICALM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGTTTAAGCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See PICALM Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PICALM

    SOURCE GeneReport for Unigene cluster: Hs.163893

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

        SABiosciences Custom PCR Arrays for PICALM
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PICALM
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PICALM

    Orthologs
    for PICALM gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PICALM gene from 9/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PICALM1 phosphatidylinositol binding clathrin assembly protein 87.05(n)
    94.31(a)    		   425991  XM_423671.3  XP_423671.3 
    lizard
    (Anolis carolinensis)    		 Reptilia PICALM6
    		 --
    		 58(a)
    		 1 ↔ 1
    		 3(200475392-200511911)
    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
    51.38(n)1
    48.08(a)1    		   408631  NM_001144547.21  NP_001138019.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea unc-113 Expression: neurons 58(a)   I(3799173-3805706)   --
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes YAP18011 Yap1801p 41.05(n)
    26.54(a)    		   856566   NP_012031.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G016006
    AT5G572006
    (see all 15)    		 putative clathrin assembly protein
    (see all 15)    		 15(a)
    15(a)
    (see all 15)    		 many ↔ many
    many ↔ many
    (see all 15)    		 2(268818-272610)
    5(23177696-23180601)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 12)    		 ANTH, putative, expressed
    (see all 12)    		 16(a)
    15(a)
    (see all 12)    		 many ↔ many
    many ↔ many
    (see all 12)    		 6(29418864-29421853)
    2(34248773-34255405)


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

    Paralogs
    for PICALM gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    PICALM for paralogs           About GeneDecksing



    Genomic Variants
    for PICALM gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2283 NCBI SNPs in PICALM are shown (see all 2283)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs775567591,2
    		--81965888(+) TACCAG/TAACAA 4 -- ut310--------
    rs30882761,2
    		F--81965902(+) TTTTGT/GGGAAG 4 -- ut31 ese31Minor allele frequency- G:0.04MN 184
    rs109271,2
    		C,--81966014(-) TTCTGT/CANNNN 4 -- ut31 ese34Minor allele frequency- C:0.03MN NA 308
    rs773435351,2
    		C,F,--81966474(+) GACTAT/CAAGGA 4 -- ut311Minor allele frequency- C:0.03WA 118
    rs612843241,2
    		C,--81967121(+) CTTCAC/TTGAGT 4 -- ut312Minor allele frequency- T:0.05WA 120
    rs735044251,2
    		C,--81967154(+) GAAGAG/AAGTTT 4 -- ut311Minor allele frequency- A:0.50WA 2
    rs756172731,2
    		F,--81967476(+) TCCAAA/TTAATG 4 -- int11Minor allele frequency- T:0.03WA 118
    rs773743801,2
    		C,--81967555(+) AGCTC-/AAATGGC 4 -- int10--------
    rs1121338791,2
    		C,--81967612(+) GGTGGG/ACAGAT 4 -- int11Minor allele frequency- A:0.50NA 2
    rs788670101,2
    		F,--81968327(+) AGAACC/ATGAAA 4 -- int11Minor allele frequency- A:0.04WA 118

    HapMap Linkage Disequilibrium report for PICALM (85668485 - 85780924 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PICALM
         1 CNV: 53325
    Human Gene Mutation Database (HGMD): PICALM

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PICALM
    DNA2.0 Custom Variant and Variant Library Synthesis for PICALM

    Disorders / Diseases
    for PICALM gene

    (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.)
    About This Section
    PICALM for disorders           About GeneDecksing

    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

    20 diseases for PICALM:    About MalaCards
    myeloid leukemia    acute lymphoblastic leukemia    leukemia    acute myeloid leukemia
    lymphoblastic leukemia    alzheimer's disease    auditory neuropathy    polycythemia vera
    megakaryoblastic leukemia    acute megakaryoblastic leukemia    polycythemia    herpes simplex
    lymphoblastic lymphoma    down syndrome    thyroid lymphoma    neuropathy
    acute leukemia    thyroiditis    pharyngitis    neuronitis

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

    8 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: PICALM (23 documents)

    Export disorders for PICALM gene to outside databases

    Publications
    for PICALM gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PICALM gene, integrated from 9 sources (see all 93):
    (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. (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. (1998)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Clathrin assembly lymphoid myeloid leukemia (CALM) protein: localization in endocytic-coated pits, interactions with clathrin, and the impact of overexpression on clathrin-mediated traffic. (PubMed id 10436022)1, 2 Tebar F.... Sorkin A. (1999)
    6. Evidence for CALM in directing VAMP2 trafficking. (PubMed id 18182011)1, 9 Harel A....Yao P.J. (2008)
    7. A novel chromosomal inversion at 11q23 in infant acute myeloid leukemia fuses MLL to CALM, a gene that encodes a clathrin assembly protein. (PubMed id 12461747)1, 9 Wechsler D.S....Roulston D. (2003)
    8. Effect of clathrin assembly lymphoid myeloid leukemia protein depletion on clathrin coat formation. (PubMed id 16262731)1, 9 Meyerholz A....Ungewickell E.J. (2005)
    9. The clathrin assembly protein AP180 regulates the gen eration of amyloid-beta peptide. (PubMed id 19450545)1, 9 Wu F....Yao P.J. (2009)
    10. Analysis of clathrin-mediated endocytosis of epidermal growth factor receptor by RNA interference. (PubMed id 14985334)1, 9 Huang F.... Sorkin A. (2004)

    External Searches for PICALM gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing PICALM gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8301 HGNC: 15514 AceView: PICALM Ensembl:ENSG00000073921 euGenes: HUgn8301
    ECgene: PICALM H-InvDB: PICALM

    Other Databases showing PICALM gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PICALM gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PICALM Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PICALM Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for PICALM gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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