PICALM

Protein-coding gene in the species Homo sapiens

PICALM

Identifiers

Aliases

PICALM, CALM, CLTH, LAP, phosphatidylinositol binding clathrin assembly protein

External IDs

OMIM: 603025; MGI: 2385902; HomoloGene: 111783; GeneCards: PICALM; OMA:PICALM - orthologs

Gene location (Human)

Chr.	Chromosome 11 (human)^[1]

Band	11q14.2	Start	85,957,175 bp^[1]
Band	11q14.2	End	86,069,882 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 7 (mouse)^[2]

Band	7 D3\|7 50.47 cM	Start	89,779,421 bp^[2]
Band	7 D3\|7 50.47 cM	End	89,862,673 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

Achilles tendon

tibial arteries

corpus callosum

subcutaneous adipose tissue

gallbladder

tibial nerve

monocyte

right coronary artery

C1 segment

ascending aorta

Top expressed in

fetal liver hematopoietic progenitor cell

interventricular septum

tibiofemoral joint

stroma of bone marrow

left lung lobe

human fetus

belly cord

body of femur

genital tubercle

tunica media of zone of aorta

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	clathrin heavy chain binding clathrin adaptor activity clathrin binding 1-phosphatidylinositol binding protein binding phospholipid binding cadherin binding SNARE binding amyloid-beta binding phosphatidylinositol-4,5-bisphosphate binding tau protein binding low-density lipoprotein particle receptor binding
Cellular component	clathrin coat of coated pit Golgi apparatus postsynaptic membrane membrane neurofibrillary tangle neuronal cell body clathrin-coated pit AP-2 adaptor complex presynaptic membrane cytoplasmic vesicle nucleus clathrin-coated vesicle intracellular anatomical structure vesicle perinuclear region of cytoplasm cytosol intracellular membrane-bounded organelle early endosome plasma membrane cell surface intrinsic component of membrane clathrin-coated endocytic vesicle endosome to plasma membrane transport vesicle synaptic vesicle extrinsic component of presynaptic endocytic zone membrane
Biological process	regulation of endocytosis endocytosis iron ion homeostasis receptor internalization positive regulation of neuron death regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process negative regulation of gene expression regulation of protein localization negative regulation of receptor-mediated endocytosis positive regulation of transcription, DNA-templated endosomal transport clathrin coat assembly cell population proliferation vesicle-mediated transport axonogenesis hemopoiesis clathrin-dependent endocytosis negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process synaptic vesicle maturation positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process vesicle cargo loading receptor-mediated endocytosis dendrite morphogenesis positive regulation of amyloid-beta formation membrane organization iron ion import across plasma membrane vesicle budding from membrane learning or memory positive regulation of GTPase activity protein-containing complex assembly regulation of vesicle size membrane bending amyloid-beta clearance by transcytosis regulation of amyloid-beta formation negative regulation of protein localization to plasma membrane clathrin-coated pit assembly negative regulation of protein localization to cell surface synaptic vesicle budding from presynaptic endocytic zone membrane synaptic vesicle endocytosis
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


8301


233489

Ensembl


ENSG00000073921


ENSMUSG00000039361

UniProt


Q13492


Q7M6Y3

RefSeq (mRNA)


NM_001008660 NM_001206946 NM_001206947 NM_007166

NM_001252520 NM_001252521 NM_001252522 NM_001252523 NM_001252524
NM_146194 NM_001360867

RefSeq (protein)


NP_001008660 NP_001193875 NP_001193876 NP_009097 NP_001008660.1

NP_001239449 NP_001239450 NP_001239451 NP_001239452 NP_001239453
NP_666306 NP_001347796

Location (UCSC)

Chr 11: 85.96 – 86.07 Mb

Chr 7: 89.78 – 89.86 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Phosphatidylinositol binding clathrin assembly protein, also known as PICALM, is a protein which in humans is encoded by the PICALM gene.^[5]

Interactions

PICALM has been shown to interact with CLTC.^[6]

Clinical significance

In humans, certain alleles of this gene have been statistically associated with an increased risk of developing late-onset Alzheimer's disease.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000073921 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000039361 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: PICALM phosphatidylinositol binding clathrin assembly protein".
^ Tebar, F; Bohlander S K; Sorkin A (Aug 1999). "Clathrin assembly lymphoid myeloid leukemia (CALM) protein: localization in endocytic-coated pits, interactions with clathrin, and the impact of overexpression on clathrin-mediated traffic" (PDF). Mol. Biol. Cell. 10 (8). UNITED STATES: 2687–702. doi:10.1091/mbc.10.8.2687. ISSN 1059-1524. PMC 25500. PMID 10436022.
^
Harold D, Abraham R, Hollingworth P, et al. (September 2009). "Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease". Nat. Genet. 41 (10): 1088–93. doi:10.1038/ng.440. PMC 2845877. PMID 19734902.
- Alice Park (2009-09-07). "Breakthrough Discoveries of Alzheimer's Genes". Time. Archived from the original on 2009-09-09.

Ron D, Habener JF (1992). "CHOP, a novel developmentally regulated nuclear protein that dimerizes with transcription factors C/EBP and LAP and functions as a dominant-negative inhibitor of gene transcription". Genes Dev. 6 (3): 439–53. doi:10.1101/gad.6.3.439. PMID 1547942.
Dreyling MH, Martinez-Climent JA, Zheng M, et al. (1996). "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". Proc. Natl. Acad. Sci. U.S.A. 93 (10): 4804–9. Bibcode:1996PNAS...93.4804D. doi:10.1073/pnas.93.10.4804. PMC 39360. PMID 8643484.
Silliman CC, McGavran L, Wei Q, et al. (1998). "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". Leukemia. 12 (9): 1404–10. doi:10.1038/sj.leu.2401109. PMID 9737689.
Tebar F, Bohlander SK, Sorkin A (1999). "Clathrin assembly lymphoid myeloid leukemia (CALM) protein: localization in endocytic-coated pits, interactions with clathrin, and the impact of overexpression on clathrin-mediated traffic". Mol. Biol. Cell. 10 (8): 2687–702. doi:10.1091/mbc.10.8.2687. PMC 25500. PMID 10436022.
Kim JA, Kim SR, Jung YK, et al. (2000). "Properties of GST-CALM expressed in E. coli". Exp. Mol. Med. 32 (2): 93–9. doi:10.1038/emm.2000.17. PMID 10926122. S2CID 9913485.
Wechsler DS, Engstrom LD, Alexander BM, et al. (2003). "A novel chromosomal inversion at 11q23 in infant acute myeloid leukemia fuses MLL to CALM, a gene that encodes a clathrin assembly protein" (PDF). Genes Chromosomes Cancer. 36 (1): 26–36. doi:10.1002/gcc.10136. hdl:2027.42/35133. PMID 12461747. S2CID 6463540.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
Park SY, Ha BG, Choi GH, et al. (2004). "EHD2 interacts with the insulin-responsive glucose transporter (GLUT4) in rat adipocytes and may participate in insulin-induced GLUT4 recruitment". Biochemistry. 43 (23): 7552–62. doi:10.1021/bi049970f. PMID 15182197.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Meyerholz A, Hinrichsen L, Groos S, et al. (2006). "Effect of clathrin assembly lymphoid myeloid leukemia protein depletion on clathrin coat formation". Traffic. 6 (12): 1225–34. doi:10.1111/j.1600-0854.2005.00355.x. PMID 16262731. S2CID 8040699.
Archangelo LF, Gläsner J, Krause A, Bohlander SK (2006). "The novel CALM interactor CATS influences the subcellular localization of the leukemogenic fusion protein CALM/AF10". Oncogene. 25 (29): 4099–109. doi:10.1038/sj.onc.1209438. PMID 16491119.
Deshpande AJ, Cusan M, Rawat VP, et al. (2007). "Acute myeloid leukemia is propagated by a leukemic stem cell with lymphoid characteristics in a mouse model of CALM/AF10-positive leukemia". Cancer Cell. 10 (5): 363–74. doi:10.1016/j.ccr.2006.08.023. PMID 17097559.
Abdelhaleem M, Beimnet K, Kirby-Allen M, et al. (2007). "High incidence of CALM-AF10 fusion and the identification of a novel fusion transcript in acute megakaryoblastic leukemia in children without Down's syndrome". Leukemia. 21 (2): 352–3. doi:10.1038/sj.leu.2404503. PMID 17170719.
Ashihara E, Nakamura S, Inaba T, et al. (2007). "A novel AF10-CALM fusion transcript in gamma/delta-T cell type lymphoblastic lymphoma". Am. J. Hematol. 82 (9): 859–60. doi:10.1002/ajh.21021. PMID 17597474. S2CID 72275219.
Caudell D, Zhang Z, Chung YJ, Aplan PD (2007). "Expression of a CALM-AF10 fusion gene leads to Hoxa cluster overexpression and acute leukemia in transgenic mice". Cancer Res. 67 (17): 8022–31. doi:10.1158/0008-5472.CAN-06-3749. PMC 1986634. PMID 17804713.

PDB gallery

1hf8: CALM-N N-TERMINAL DOMAIN OF CLATHRIN ASSEMBLY LYMPHOID MYELOID LEUKAEMIA PROTEIN
1hfa: CALM-N N-TERMINAL DOMAIN OF CLATHRIN ASSEMBLY LYMPHOID MYELOID LEUKAEMIA PROTEIN, PI(4,5)P2 COMPLEX
1hg2: CALM-N N-TERMINAL DOMAIN OF CLATHRIN ASSEMBLY LYMPHOID MYELOID LEUKAEMIA PROTEIN, INOSITOL(4,5)P2 COMPLEX
1hg5: CALM-N N-TERMINAL DOMAIN OF CLATHRIN ASSEMBLY LYMPHOID MYELOID LEUKAEMIA PROTEIN, INOSITOL(1,2,3,4,5,6)P6 COMPLEX