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    PICALM phosphatidylinositol binding clathrin assembly protein [ Homo sapiens (human) ]

    Gene ID: 8301, updated on 6-Aug-2017
    Official Symbol
    PICALMprovided by HGNC
    Official Full Name
    phosphatidylinositol binding clathrin assembly proteinprovided by HGNC
    Primary source
    HGNC:HGNC:15514
    See related
    Ensembl:ENSG00000073921 MIM:603025; Vega:OTTHUMG00000166981
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LAP; CALM; CLTH
    Summary
    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]
    Orthologs
    Location:
    11q14.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (85957171..86069881, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (85668214..85780923, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 83 Neighboring gene adenosylhomocysteinase pseudogene 6 Neighboring gene solute carrier family 25 member 1 pseudogene 1 Neighboring gene RNA, U6 small nuclear 560, pseudogene Neighboring gene uncharacterized LOC107984426

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
    NHGRI GWA Catalog
    Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
    NHGRI GWA Catalog
    Genome-wide association study of Alzheimer's disease.
    NHGRI GWA Catalog
    Genome-wide association study of Tourette's syndrome.
    NHGRI GWA Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    NHGRI GWA Catalog
    The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.
    NHGRI GWA Catalog
    • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
    • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
      Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
    • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
    • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
      Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
      trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    1-phosphatidylinositol binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Rab GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cadherin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    clathrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    clathrin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    clathrin heavy chain binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    low-density lipoprotein particle receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cargo loading into vesicle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    clathrin coat assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    clathrin-dependent endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    iron ion import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    learning or memory IEA
    Inferred from Electronic Annotation
    more info
     
    membrane organization TAS
    Traceable Author Statement
    more info
     
    modulation of age-related behavioral decline IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of receptor-mediated endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of amyloid-beta clearance IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of amyloid-beta formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of neuron death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    receptor-mediated endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor-mediated endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synaptic vesicle maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vesicle-mediated transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with AP-2 adaptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with clathrin coat of coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated pit ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome to plasma membrane transport vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neurofibrillary tangle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    postsynaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    presynaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    phosphatidylinositol-binding clathrin assembly protein
    Names
    clathrin assembly lymphoid myeloid leukemia protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028942.1 RefSeqGene

      Range
      5001..117710
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001008660.2NP_001008660.1  phosphatidylinositol-binding clathrin assembly protein isoform 2

      See identical proteins and their annotated locations for NP_001008660.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon, but has an additional downstream in-frame exon, in the coding region, as compared to variant 1. The encoded isoform 2 thus lacks an internal segment and also has an additional segment, as compared to isoform 1.
      Source sequence(s)
      AB210017, AK128786, BC048259, BC073961, CA415536
      Consensus CDS
      CCDS31653.1
      UniProtKB/Swiss-Prot
      Q13492
      UniProtKB/TrEMBL
      A0A024R5L7
      Related
      ENSP00000436958.1, OTTHUMP00000234630, ENST00000532317.5, OTTHUMT00000392220
      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    2. NM_001206946.1NP_001193875.1  phosphatidylinositol-binding clathrin assembly protein isoform 3

      See identical proteins and their annotated locations for NP_001193875.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate splice site in the coding sequence, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AB210017, AK128786, BC048259, CA415536
      Consensus CDS
      CCDS55784.1
      UniProtKB/Swiss-Prot
      Q13492
      Related
      ENSP00000433846.1, OTTHUMP00000234631, ENST00000526033.5, OTTHUMT00000392221
      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    3. NM_001206947.1NP_001193876.1  phosphatidylinositol-binding clathrin assembly protein isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate 5' exon, resulting in a downstream AUG start codon, and lacks an in-frame exon in the coding region, compared to variant 1. The resulting isoform (4) has a shorter N-terminus and lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK128786, AK300275, BC073961, CA415536, DC300074
      Consensus CDS
      CCDS55783.1
      UniProtKB/Swiss-Prot
      Q13492
      Related
      ENSP00000434884.1, OTTHUMP00000234635, ENST00000528398.5, OTTHUMT00000392226
      Conserved Domains (2) summary
      pfam07651
      Location:1231
      ANTH; ANTH domain
      pfam08287
      Location:214293
      DASH_Spc19; Spc19
    4. NM_007166.3NP_009097.2  phosphatidylinositol-binding clathrin assembly protein isoform 1

      See identical proteins and their annotated locations for NP_009097.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB210017, AK128786, BC048259, CA415536
      Consensus CDS
      CCDS8272.1
      UniProtKB/Swiss-Prot
      Q13492
      UniProtKB/TrEMBL
      A0A024R5P1
      Related
      ENSP00000377015.3, OTTHUMP00000234633, ENST00000393346.7, OTTHUMT00000392224
      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      85957171..86069881 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018388.1XP_016873877.1  phosphatidylinositol-binding clathrin assembly protein isoform X28

    2. XM_011545293.1XP_011543595.1  phosphatidylinositol-binding clathrin assembly protein isoform X22

      Conserved Domains (3) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
      pfam11029
      Location:492571
      DAZAP2; DAZ associated protein 2 (DAZAP2)
    3. XM_017018387.1XP_016873876.1  phosphatidylinositol-binding clathrin assembly protein isoform X27

    4. XM_005274335.2XP_005274392.1  phosphatidylinositol-binding clathrin assembly protein isoform X18

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    5. XM_005274336.2XP_005274393.1  phosphatidylinositol-binding clathrin assembly protein isoform X20

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    6. XM_005274332.2XP_005274389.1  phosphatidylinositol-binding clathrin assembly protein isoform X15

      Conserved Domains (3) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
      pfam11029
      Location:523602
      DAZAP2; DAZ associated protein 2 (DAZAP2)
    7. XM_005274340.2XP_005274397.1  phosphatidylinositol-binding clathrin assembly protein isoform X29

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    8. XM_017018386.1XP_016873875.1  phosphatidylinositol-binding clathrin assembly protein isoform X26

    9. XM_005274333.2XP_005274390.1  phosphatidylinositol-binding clathrin assembly protein isoform X16

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    10. XM_005274330.2XP_005274387.1  phosphatidylinositol-binding clathrin assembly protein isoform X13

      Conserved Domains (3) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
      pfam11029
      Location:528607
      DAZAP2; DAZ associated protein 2 (DAZAP2)
    11. XM_017018381.1XP_016873870.1  phosphatidylinositol-binding clathrin assembly protein isoform X11

    12. XM_006718700.2XP_006718763.1  phosphatidylinositol-binding clathrin assembly protein isoform X5

      Conserved Domains (3) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
      pfam11029
      Location:566645
      DAZAP2; DAZ associated protein 2 (DAZAP2)
    13. XM_006718699.2XP_006718762.1  phosphatidylinositol-binding clathrin assembly protein isoform X3

      Conserved Domains (3) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
      pfam11029
      Location:571650
      DAZAP2; DAZ associated protein 2 (DAZAP2)
    14. XM_005274334.2XP_005274391.1  phosphatidylinositol-binding clathrin assembly protein isoform X17

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    15. XM_005274325.2XP_005274382.1  phosphatidylinositol-binding clathrin assembly protein isoform X6

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    16. XM_005274328.2XP_005274385.1  phosphatidylinositol-binding clathrin assembly protein isoform X10

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    17. XM_005274323.2XP_005274380.1  phosphatidylinositol-binding clathrin assembly protein isoform X2

      Conserved Domains (3) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
      pfam11029
      Location:573652
      DAZAP2; DAZ associated protein 2 (DAZAP2)
    18. XM_005274337.2XP_005274394.1  phosphatidylinositol-binding clathrin assembly protein isoform X24

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    19. XM_005274331.2XP_005274388.1  phosphatidylinositol-binding clathrin assembly protein isoform X14

      See identical proteins and their annotated locations for XP_005274388.1

      UniProtKB/Swiss-Prot
      Q13492
      Related
      ENSP00000348718.5, OTTHUMP00000234637, ENST00000356360.9, OTTHUMT00000392228
      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    20. XM_005274327.2XP_005274384.1  phosphatidylinositol-binding clathrin assembly protein isoform X9

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    21. XM_005274324.2XP_005274381.1  phosphatidylinositol-binding clathrin assembly protein isoform X4

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    22. XM_005274326.2XP_005274383.1  phosphatidylinositol-binding clathrin assembly protein isoform X8

      See identical proteins and their annotated locations for XP_005274383.1

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    23. XM_005274322.2XP_005274379.1  phosphatidylinositol-binding clathrin assembly protein isoform X1

      Conserved Domains (3) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
      pfam11029
      Location:578657
      DAZAP2; DAZ associated protein 2 (DAZAP2)
    24. XM_017018384.1XP_016873873.1  phosphatidylinositol-binding clathrin assembly protein isoform X23

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    25. XM_017018383.1XP_016873872.1  phosphatidylinositol-binding clathrin assembly protein isoform X21

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    26. XM_005274329.3XP_005274386.1  phosphatidylinositol-binding clathrin assembly protein isoform X12

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    27. XM_017018382.1XP_016873871.1  phosphatidylinositol-binding clathrin assembly protein isoform X19

    28. XM_006718701.3XP_006718764.1  phosphatidylinositol-binding clathrin assembly protein isoform X7

      Conserved Domains (2) summary
      pfam07651
      Location:19282
      ANTH; ANTH domain
      pfam08287
      Location:265344
      DASH_Spc19; Spc19
    29. XM_017018385.1XP_016873874.1  phosphatidylinositol-binding clathrin assembly protein isoform X25

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      85553010..85665742 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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