Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PICALM Gene

Aliases for PICALM Gene

  • Phosphatidylinositol Binding Clathrin Assembly Protein 2 3
  • CALM 3 4 6
  • Clathrin Assembly Lymphoid Myeloid Leukemia Protein 3 4
  • CLTH 3 6
  • LAP 3 6
  • Phosphatidylinositol-Binding Clathrin Assembly Protein 3

External Ids for PICALM Gene

Previous GeneCards Identifiers for PICALM Gene

  • GC11M087996
  • GC11M087208
  • GC11M085892
  • GC11M085396
  • GC11M085346
  • GC11M085668
  • GC11M081965

Summaries for PICALM Gene

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 leukemia, acute myeloid and myeloid leukemia. Among its related pathways are Clathrin derived vesicle budding and Clathrin derived vesicle budding. 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 for PICALM Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PICALM Gene

Genomics for PICALM Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PICALM Gene

Start:
85,957,171 bp from pter
End:
86,069,882 bp from pter
Size:
112,712 bases
Orientation:
Minus strand

Genomic View for PICALM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PICALM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PICALM Gene

Proteins for PICALM Gene

  • Protein details for PICALM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13492-PICAL_HUMAN
    Recommended name:
    Phosphatidylinositol-binding clathrin assembly protein
    Protein Accession:
    Q13492
    Secondary Accessions:
    • B4DTM3
    • E9PN05
    • F8VPG7
    • O60700
    • Q4LE54
    • Q6GMQ6
    • Q86XZ9

    Protein attributes for PICALM Gene

    Size:
    652 amino acids
    Molecular mass:
    70755 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAE06099.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for PICALM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PICALM Gene

Proteomics data for PICALM Gene at MOPED

Post-translational modifications for PICALM Gene

  • Ubiquitination at Lys134, Lys318, and Lys324
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for PICALM Gene

Domains for PICALM Gene

Protein Domains for PICALM Gene

Suggested Antigen Peptide Sequences for PICALM Gene

Graphical View of Domain Structure for InterPro Entry

Q13492

UniProtKB/Swiss-Prot:

PICAL_HUMAN :
  • Q13492
Domain:
  • Contains 1 ENTH (epsin N-terminal homology) domain.
Family:
  • Belongs to the PICALM/SNAP91 family.
genes like me logo Genes that share domains with PICALM: view

No data available for Gene Families for PICALM Gene

Function for PICALM Gene

Molecular function for PICALM Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for PICALM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16491119
GO:0005543 phospholipid binding --
GO:0005545 1-phosphatidylinositol binding ISS --
GO:0030276 clathrin binding ISS --
GO:0032050 clathrin heavy chain binding IDA 10436022
genes like me logo Genes that share ontologies with PICALM: view
genes like me logo Genes that share phenotypes with PICALM: view

Animal Models for PICALM Gene

MGI Knock Outs for PICALM:

Animal Model Products

CRISPR Products

miRNA for PICALM Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PICALM

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PICALM Gene

Localization for PICALM Gene

Subcellular locations from UniProtKB/Swiss-Prot for PICALM Gene

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
Jensen Localization Image for PICALM Gene COMPARTMENTS Subcellular localization image for PICALM gene
Compartment Confidence
golgi apparatus 5
nucleus 4
cytosol 3
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PICALM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IDA 16491119
GO:0005794 Golgi apparatus IEA --
GO:0005905 coated pit ISS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with PICALM: view

Pathways for PICALM Gene

genes like me logo Genes that share pathways with PICALM: view

Gene Ontology (GO) - Biological Process for PICALM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly TAS 8643484
GO:0006898 receptor-mediated endocytosis ISS --
GO:0007409 axonogenesis IEA --
GO:0008283 cell proliferation IMP 22952941
GO:0010629 negative regulation of gene expression IMP 22952941
genes like me logo Genes that share ontologies with PICALM: view

Compounds for PICALM Gene

(3) Novoseek inferred chemical compound relationships for PICALM Gene

Compound -log(P) Hits PubMed IDs
af 10 97.4 20
leucine 39.6 1
iron 0 2
genes like me logo Genes that share compounds with PICALM: view

Transcripts for PICALM Gene

Unigene Clusters for PICALM Gene

Phosphatidylinositol binding clathrin assembly protein:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PICALM

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PICALM Gene

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: -
SP6:
SP7: - - -
SP8: - - -
SP9:
SP10:
SP11: -

ExUns: 21 ^ 22a · 22b · 22c · 22d · 22e · 22f
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7: -
SP8:
SP9: -
SP10:
SP11:

Relevant External Links for PICALM Gene

GeneLoc Exon Structure for
PICALM
ECgene alternative splicing isoforms for
PICALM

Expression for PICALM Gene

mRNA expression in normal human tissues for PICALM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for PICALM Gene

This gene is overexpressed in Bone marrow stromal cell (12.8), Brain (6.3), and Spleen (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PICALM Gene

SOURCE GeneReport for Unigene cluster for PICALM Gene Hs.163893

mRNA Expression by UniProt/SwissProt for PICALM Gene

Q13492-PICAL_HUMAN
Tissue specificity: Expressed in all tissues examined.
genes like me logo Genes that share expressions with PICALM: view

Expression partners for PICALM Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PICALM Gene

Orthologs for PICALM Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PICALM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PICALM 35
  • 95.92 (n)
  • 98.29 (a)
PICALM 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PICALM 35
  • 96.38 (n)
  • 99.38 (a)
PICALM 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Picalm 35
  • 94.37 (n)
  • 97.83 (a)
Picalm 16
Picalm 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PICALM 35
  • 99.64 (n)
  • 99.84 (a)
PICALM 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Picalm 35
  • 94.37 (n)
  • 97.97 (a)
oppossum
(Monodelphis domestica)
Mammalia PICALM 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PICALM 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves PICALM 35
  • 87.24 (n)
  • 95.14 (a)
PICALM 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PICALM 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia picalm.2 35
  • 79.08 (n)
  • 87.42 (a)
Str.7553 35
zebrafish
(Danio rerio)
Actinopterygii picalma 35
  • 74.11 (n)
  • 85.35 (a)
zgc55615 35
picalma 36
  • 84 (a)
OneToMany
picalmb 36
  • 84 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta lap 37
  • 52 (a)
lap 35
  • 54.26 (n)
  • 51.25 (a)
lap 36
  • 34 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010087 35
  • 52.21 (n)
  • 48.47 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-11 37
  • 58 (a)
unc-11 36
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YAP1801 36
  • 20 (a)
ManyToMany
YAP1802 36
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToMany
Species with no ortholog for PICALM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PICALM Gene

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

Paralogs for PICALM Gene

Paralogs for PICALM Gene

genes like me logo Genes that share paralogs with PICALM: view

Variants for PICALM Gene

Sequence variations from dbSNP and Humsavar for PICALM Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs10927 -- 85,957,801(-) TTCTG(C/T)ACATG utr-variant-3-prime
rs475639 -- 85,978,742(+) TCAAC(C/T)TAAAT intron-variant
rs477833 -- 85,993,786(-) TTTTT(G/T)GGATT intron-variant
rs478711 -- 86,035,702(+) CTTTC(A/G)GAGGC intron-variant
rs484154 -- 85,994,433(+) CTCTA(A/T)CTTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PICALM Gene

Variant ID Type Subtype PubMed ID
nsv898054 CNV Loss 21882294
nsv469975 CNV Gain 18288195
dgv164n27 CNV Loss 19166990

Relevant External Links for PICALM Gene

HapMap Linkage Disequilibrium report
PICALM
Human Gene Mutation Database (HGMD)
PICALM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PICALM Gene

Disorders for PICALM Gene

(1) OMIM Diseases for PICALM Gene (603025)

UniProtKB/Swiss-Prot

PICAL_HUMAN
  • Note=A chromosomal aberration involving PICALM is found in diffuse histiocytic lymphomas. Translocation t(10;11)(p13;q14) with MLLT10.

(3) University of Copenhagen DISEASES for PICALM Gene

(8) Novoseek inferred disease relationships for PICALM Gene

Disease -log(P) Hits PubMed IDs
myeloid leukemia 76.2 9
t-all 74.7 2
lymphoma large cell diffuse 59.1 1
leukemogenesis 57.1 1
leukemia 48.5 6

Relevant External Links for PICALM

Genetic Association Database (GAD)
PICALM
Human Genome Epidemiology (HuGE) Navigator
PICALM
genes like me logo Genes that share disorders with PICALM: view

No data available for Genatlas for PICALM Gene

Publications for PICALM Gene

  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. (PMID: 8643484) Dreyling M.H. … Bohlander S.K. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 23
  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. (PMID: 9737689) Silliman C.C. … Hunger S.P. (Leukemia 1998) 3 4 23
  3. A novel chromosomal inversion at 11q23 in infant acute myeloid leukemia fuses MLL to CALM, a gene that encodes a clathrin assembly protein. (PMID: 12461747) Wechsler D.S. … Roulston D. (Genes Chromosomes Cancer 2003) 3 23
  4. Effect of clathrin assembly lymphoid myeloid leukemia protein depletion on clathrin coat formation. (PMID: 16262731) Meyerholz A. … Ungewickell E.J. (Traffic 2005) 3 23
  5. Analysis of clathrin-mediated endocytosis of epidermal growth factor receptor by RNA interference. (PMID: 14985334) Huang F. … Sorkin A. (J. Biol. Chem. 2004) 3 23

Products for PICALM Gene

Sources for PICALM Gene

Back to Top

Content