PICALM (phosphatidylinositol binding clathrin assembly protein)

Identity

HGNC	PICALM
Location	11q14-21
	CALM (11q14-21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Transcription

major mRNA: 4 kb; other: 3 and 9 kb

Protein

Description	652 amino acids
Expression	wide
Function	role in the integration of signals from different pathways (clathrin, phosphoinositols, receptor-mediated endocytosis)
Homology	with ap-3, a clathrin assembly protein (mouse)

Implicated in

Entity	t(10;11)(p13;q14-21) -->CALM-AF10 and/or AF10-CALM
Disease	yet to be well delineated; T-cell ALL
Prognosis	uncertain (median survival 2 yrs?)
Cytogenetics	may well be confused with the t(10;11)(p12;q23), where MLL on 11q23 is involved, instead of CALM
Hybrid/Mutated Gene	5' CALM - 3' AF10 and 5' AF10 - 3' CALM
Abnormal Protein	both CALM-AF10 and the reciprocal AF10-CALM are expressed

Breakpoints

External links

	Nomenclature
HGNC	PICALM   15514
Entrez_Gene	PICALM  8301  phosphatidylinositol binding clathrin assembly protein
	Cards
Atlas	CALM
GeneCards	PICALM
Ensembl	PICALM [Search_View]   ENSG00000073921 [Gene_View]
Genatlas	PICALM
GeneLynx	PICALM
eGenome	PICALM
euGene	8301
	Genomic and cartography
GoldenPath	PICALM  -     chr11:85346133-85457756 -  11q14   [Description]    (hg18-Mar_2006)
Ensembl	PICALM - 11q14 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	PICALM
	Gene and transcription
Genbank	AB210017 [ ENTREZ ]
Genbank	AF060939 [ ENTREZ ]
Genbank	AF060940 [ ENTREZ ]
Genbank	AK128786 [ ENTREZ ]
Genbank	AK291414 [ ENTREZ ]
RefSeq	NM_001008660 [ SRS ]    NM_001008660 [ ENTREZ ]
RefSeq	NM_007166 [ SRS ]    NM_007166 [ ENTREZ ]
RefSeq	AC_000054 [ SRS ]    AC_000054 [ ENTREZ ]
RefSeq	AC_000143 [ SRS ]    AC_000143 [ ENTREZ ]
RefSeq	NC_000011 [ SRS ]    NC_000011 [ ENTREZ ]
RefSeq	NT_033927 [ SRS ]    NT_033927 [ ENTREZ ]
RefSeq	NW_001838028 [ SRS ]    NW_001838028 [ ENTREZ ]
RefSeq	NW_925106 [ SRS ]    NW_925106 [ ENTREZ ]
AceView	PICALM AceView - NCBI
Unigene	Hs.709887 [ SRS ]    Hs.709887 [ NCBI ]     HS709887 [ spliceNest ]
Fast-db	12520 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q13492 [ SRS]    Q13492 [ EXPASY ]     Q13492 [ INTERPRO ]     Q13492 [ UNIPROT ]
Prosite	PS50942 ENTH [ SRS ]    PS50942 ENTH [ Expasy ]
Interpro	IPR011417 ANTH [ SRS ]    IPR011417 ANTH [ EBI ]
Interpro	IPR014712 Clathrin_Pinositid-bd_GAT-like [ SRS ]    IPR014712 Clathrin_Pinositid-bd_GAT-like [ EBI ]
Interpro	IPR008942 ENTH_VHS [ SRS ]    IPR008942 ENTH_VHS [ EBI ]
Interpro	IPR013809 Epsin-like_N [ SRS ]    IPR013809 Epsin-like_N [ EBI ]
CluSTr	Q13492
Pfam	PF07651 ANTH [ SRS ]    PF07651 ANTH [ Sanger ]    pfam07651 [ NCBI-CDD ]
Smart	SM00273 ENTH [EMBL]
Blocks	Q13492
HPRD	04320
	Protein Interaction databases
DIP	Q13492
IntAct	Q13492
	Polymorphism : SNP, mutations, diseases
OMIM	601626;603025    [ map ]
GENECLINICS	601626;603025
SNP	PICALM [dbSNP-NCBI]
SNP	NM_001008660 [SNP-NCI]
SNP	NM_007166 [SNP-NCI]
SNP	PICALM [GeneSNPs - Utah]  PICALM] [HGBASE - SRS]
HAPMAP	PICALM [HAPMAP]
COSMIC	PICALM [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	PICALM [Translocation breakpoints In Cancer]
HGMD	PICALM
	General knowledge
Family Browser	PICALM [UCSC Family Browser]
SOURCE	NM_001008660
SOURCE	NM_007166
SMD	Hs.709887
SAGE	Hs.709887
GO	phospholipid binding [Amigo]  phospholipid binding
GO	phosphatidylinositol binding [Amigo]  phosphatidylinositol binding
GO	phosphatidylinositol binding [Amigo]  phosphatidylinositol binding
GO	Golgi apparatus [Amigo]  Golgi apparatus
GO	coated pit [Amigo]  coated pit
GO	coated pit [Amigo]  coated pit
GO	receptor-mediated endocytosis [Amigo]  receptor-mediated endocytosis
GO	receptor-mediated endocytosis [Amigo]  receptor-mediated endocytosis
GO	membrane [Amigo]  membrane
GO	clathrin coat [Amigo]  clathrin coat
GO	clathrin binding [Amigo]  clathrin binding
GO	clathrin binding [Amigo]  clathrin binding
GO	cytoplasmic vesicle [Amigo]  cytoplasmic vesicle
GO	clathrin coat assembly [Amigo]  clathrin coat assembly
BIOCARTA	Endocytotic role of NDK, Phosphins and Dynamin    [Genes]
PubGene	PICALM
TreeFam	PICALM
CTD	8301 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	PICALM Related clones (RZPD - Berlin)
	PubMed
PubMed	21 Pubmed reference(s) in LocusLink

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	01-1998	Jean-Loup Huret

Citation

This paper should be referenced as such :

Huret JL . PICALM (phosphatidylinositol binding clathrin assembly protein). Atlas Genet Cytogenet Oncol Haematol. January 1998 . URL : http://AtlasGeneticsOncology.org/Genes/CALM.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:12:40 2008