Q13492 (PICAL_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 120.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Phosphatidylinositol-binding clathrin assembly protein Alternative name(s): Clathrin assembly lymphoid myeloid leukemia protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 652 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. Ref.8 |
| Subunit 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. |
| Subcellular location | Membrane › clathrin-coated pit. Golgi apparatus. Cytoplasmic vesicle › clathrin-coated vesicle. Note: Colocalized with clathrin in the Golgi area. Ref.8 |
| Tissue specificity | Expressed in all tissues examined. Ref.1 |
| Involvement in disease | A chromosomal aberration involving PICALM is found in diffuse histiocytic lymphomas. Translocation t(10;11)(p13;q14) with MLLT10. |
| Sequence similarities | Contains 1 ENTH (epsin N-terminal homology) domain. |
| Sequence caution | The sequence BAE06099.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q13492-1) Also known as: Type I; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q13492-2) Also known as: Type II; The sequence of this isoform differs from the canonical sequence as follows: 594-613: Missing. | ||||||
| Isoform 3 (identifier: Q13492-3) The sequence of this isoform differs from the canonical sequence as follows: 420-469: Missing. 593-593: M → MNGMHFPQY | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q13492-4) The sequence of this isoform differs from the canonical sequence as follows: 1-51: Missing. 420-469: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q13492-5) The sequence of this isoform differs from the canonical sequence as follows: 420-426: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed Ref.12 | ||||||
| Chain | 2 – 652 | 651 | Phosphatidylinositol-binding clathrin assembly protein | PRO_0000187062 | |||||
Regions | |||||||||
| Domain | 14 – 145 | 132 | ENTH | ||||||
Sites | |||||||||
| Site | 648 – 649 | 2 | Breakpoint for translocation to form CALM/MLLT10 fusion protein | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylserine Ref.12 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 51 | 51 | Missing in isoform 4. | VSP_044567 | |||||
| Alternative sequence | 420 – 469 | 50 | Missing in isoform 3 and isoform 4. | VSP_009607 | |||||
| Alternative sequence | 420 – 426 | 7 | Missing in isoform 5. | VSP_044568 | |||||
| Alternative sequence | 593 | 1 | M → MNGMHFPQY in isoform 3. | VSP_009608 | |||||
| Alternative sequence | 594 – 613 | 20 | Missing in isoform 2. | VSP_004067 | |||||
| Natural variant | 158 | 1 | T → P. Corresponds to variant rs12800974 [ dbSNP | Ensembl ]. | VAR_028191 | |||||
| Natural variant | 383 | 1 | S → F. Corresponds to variant rs12222608 [ dbSNP | Ensembl ]. | VAR_028192 | |||||
| Natural variant | 578 | 1 | W → C. Ref.1 Ref.7 Corresponds to variant rs1043858 [ dbSNP | Ensembl ]. | VAR_028193 | |||||
| Natural variant | 579 | 1 | Q → E. Ref.1 Ref.7 Corresponds to variant rs1043859 [ dbSNP | Ensembl ]. | VAR_028194 | |||||
| Natural variant | 641 | 1 | F → L. Corresponds to variant rs556337 [ dbSNP | Ensembl ]. | VAR_028195 | |||||
Experimental info | |||||||||
| Sequence conflict | 132 | 1 | N → D in BAG62035. Ref.2 | ||||||
| Sequence conflict | 212 | 1 | N → H in AAB07762. Ref.1 | ||||||
| Sequence conflict | 331 | 1 | E → G in BAG62035. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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." Dreyling M.H., Martinez-Climent J.A., Zheng M., Mao J., Rowley J.D., Bohlander S.K. Proc. Natl. Acad. Sci. U.S.A. 93:4804-4809(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION, TISSUE SPECIFICITY, VARIANTS CYS-578 AND GLU-579. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Placenta. |
| [3] | "Preparation of a set of expression-ready clones of mammalian long cDNAs encoding large proteins by the ORF trap cloning method." Nakajima D., Saito K., Yamakawa H., Kikuno R.F., Nakayama M., Ohara R., Okazaki N., Koga H., Nagase T., Ohara O. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). Tissue: Brain. |
| [4] | "Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y.Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Tissue: PNS. |
| [7] | "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." Silliman C.C., McGavran L., Wei Q., Miller L.A., Li S., Hunger S.P. Leukemia 12:1404-1410(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 575-652 (ISOFORMS 1 AND 2), VARIANTS CYS-578 AND GLU-579. Tissue: Bone marrow. |
| [8] | "Clathrin assembly lymphoid myeloid leukemia (CALM) protein: localization in endocytic-coated pits, interactions with clathrin, and the impact of overexpression on clathrin-mediated traffic." Tebar F., Bohlander S.K., Sorkin A. Mol. Biol. Cell 10:2687-2702(1999) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH CLATHRIN, SUBCELLULAR LOCATION. |
| [9] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [10] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [11] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [12] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, MASS SPECTROMETRY, CLEAVAGE OF INITIATOR METHIONINE. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U45976 mRNA. Translation: AAB07762.1. AK300275 mRNA. Translation: BAG62035.1. AB210017 mRNA. Translation: BAE06099.1. Different initiation. AP000767 Genomic DNA. No translation available. CH471076 Genomic DNA. Translation: EAW75120.1. BC048259 mRNA. Translation: AAH48259.2. BC064357 mRNA. Translation: AAH64357.1. BC073961 mRNA. Translation: AAH73961.1. AF060939 mRNA. Translation: AAC16711.1. AF060940 mRNA. Translation: AAC16712.1. |
| IPI | IPI00216184. IPI00290738. IPI00400849. IPI00980475. IPI00984627. |
| RefSeq | NP_001008660.1. NM_001008660.2. NP_001193875.1. NM_001206946.1. NP_001193876.1. NM_001206947.1. NP_009097.2. NM_007166.3. |
| UniGene | Hs.163893. |
3D structure databases | |
| ProteinModelPortal | Q13492. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q13492. 7 interactions. |
| MINT | MINT-1636298. |
| STRING | 9606.ENSP00000342095. |
PTM databases | |
| PhosphoSite | Q13492. |
Polymorphism databases | |
| DMDM | 116242714. |
Proteomic databases | |
| PaxDb | Q13492. |
| PRIDE | Q13492. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000356360; ENSP00000348718; ENSG00000073921. ENST00000393346; ENSP00000377015; ENSG00000073921. ENST00000447890; ENSP00000396321; ENSG00000073921. ENST00000526033; ENSP00000433846; ENSG00000073921. ENST00000528398; ENSP00000434884; ENSG00000073921. ENST00000532317; ENSP00000436958; ENSG00000073921. |
| GeneID | 8301. |
| KEGG | hsa:8301. |
| UCSC | uc001pbl.3. human. uc001pbm.3. human. |
Organism-specific databases | |
| CTD | 8301. |
| GeneCards | GC11M085668. |
| HGNC | HGNC:15514. PICALM. |
| HPA | HPA019053. HPA019061. |
| MIM | 603025. gene. |
| neXtProt | NX_Q13492. |
| PharmGKB | PA33287. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG267212. |
| HOVERGEN | HBG049391. |
| OMA | WNAATMA. |
| OrthoDB | EOG4C87RV. |
| PhylomeDB | Q13492. |
Enzyme and pathway databases | |
| Reactome | REACT_11123. Membrane Trafficking. |
Gene expression databases | |
| ArrayExpress | Q13492. |
| Bgee | Q13492. |
| CleanEx | HS_PICALM. |
| Genevestigator | Q13492. |
| GermOnline | ENSG00000073921. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.20.58.150. 1 hit. 1.25.40.90. 1 hit. |
| InterPro | IPR011417. ANTH_dom. IPR014712. Clathrin_Pinositid-bd_GAT-like. IPR008942. ENTH_VHS. IPR013809. Epsin-like_N. [Graphical view] |
| Pfam | PF07651. ANTH. 1 hit. [Graphical view] |
| SMART | SM00273. ENTH. 1 hit. [Graphical view] |
| SUPFAM | SSF48464. ENTH_VHS. 1 hit. |
| PROSITE | PS50942. ENTH. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | PICALM. human. |
| GenomeRNAi | 8301. |
| NextBio | 31101. |
| PMAP-CutDB | Q13492. |
| SOURCE | Search... |
Entry information
| Entry name | PICAL_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13492 Secondary accession number(s): B4DTM3 Q86XZ9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
