Reviewed,
UniProtKB/Swiss-Prot Q13492 (PICAL_HUMAN)
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November 25, 2008.
Version 75.
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents
Names 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) | ||||
| 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 not processed. |
| 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. |
| 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. |
| Tissue specificity | Expressed in all tissues examined. |
| 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. |
Ontologies
Keywords | |
|---|---|
| Biological process | Endocytosis |
| Cellular component | Coated pit Cytoplasmic vesicle Golgi apparatus Membrane |
| Coding sequence diversity | Alternative splicing Chromosomal rearrangement Polymorphism |
| Disease | Proto-oncogene |
Gene Ontology (GO) | |
| Biological process | clathrin coat assembly Inferred from electronic annotation. Source: InterPro receptor-mediated endocytosis Ref.4Inferred from direct assay. Source: UniProtKB |
| Cellular component | Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-KW clathrin coatInferred from electronic annotation. Source: InterPro coated pit Ref.4Inferred from direct assay. Source: UniProtKB cytoplasmic vesicleInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | clathrin binding Ref.4 Inferred from direct assay. Source: UniProtKB phosphatidylinositol bindingInferred from sequence or structural similarity. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 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 | ||||||
| Notes: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 652 | 652 | 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 | ||||||
Natural variations | |||||||||
| Alternative sequence | 420 – 469 | 50 | Missing in isoform 3. | VSP_009607 | |||||
| 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: dbSNP rs12800974. | VAR_028191 | |||||
| Natural variant | 383 | 1 | S → F: dbSNP rs12222608. | VAR_028192 | |||||
| Natural variant | 578 | 1 | W → C: dbSNP rs1043858. | VAR_028193 | |||||
| Natural variant | 579 | 1 | Q → E: dbSNP rs1043859. | VAR_028194 | |||||
| Natural variant | 641 | 1 | F → L: dbSNP rs556337. | VAR_028195 | |||||
Experimental info | |||||||||
| Sequence conflict | 212 | 1 | N → H in AAB07762. Ref.1 | ||||||
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: 8643484] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION, TISSUE SPECIFICITY, VARIANTS CYS-578 AND GLU-579. |
| [2] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). |
| [3] | "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: 9737689] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 575-652 (ISOFORMS 1 AND 2), VARIANTS CYS-578 AND GLU-579. Tissue: Bone marrow. |
| [4] | "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: 10436022] [Abstract] Cited for: FUNCTION, INTERACTION WITH CLATHRIN, SUBCELLULAR LOCATION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| U45976 mRNA. Translation: AAB07762.1. BC048259 mRNA. Translation: AAH48259.2. BC064357 mRNA. Translation: AAH64357.1. AF060939 mRNA. Translation: AAC16711.1. AF060940 mRNA. Translation: AAC16712.1. | |
| RefSeq | NP_001008660.1. NP_009097.2. |
| UniGene | Hs.163893 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1HG5 based on UniProtKB O55011. |
| SMR | Q13492. Positions 19-281. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q13492. |
Genome annotation databases | |
| Ensembl | ENSG00000073921. Homo sapiens. [Contig view] |
| GeneID | 8301. |
| KEGG | hsa:8301. |
Organism-specific databases | |
| H-InvDB | HIX0026132. |
| HGNC | HGNC:15514. PICALM. |
| MIM | 603025. gene. |
| PharmGKB | PA33287. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOVERGEN | Q13492. |
Gene expression databases | |
| ArrayExpress | Q13492. |
| CleanEx | HS_PICALM. |
| GermOnline | ENSG00000073921. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR011417. ANTH. IPR014712. Clathrin_Pinositid-bd_GAT-like. IPR008942. ENTH_VHS. IPR013809. Epsin-like_N. [Graphical view] |
| Gene3D | G3DSA:1.25.40.90. ENTH_VHS. 1 hit. G3DSA:1.20.58.150. Pinositid-bd_clathrin_GAT-like. 1 hit. |
| Pfam | PF07651. ANTH. 1 hit. [Graphical view] |
| SMART | SM00273. ENTH. 1 hit. [Graphical view] |
| PROSITE | PS50942. ENTH. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| LinkHub | Q13492. |
| NextBio | 31101. |
| SOURCE | Search... |
Entry information
| Entry name | PICAL_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13492 Secondary accession number(s): O60700, Q86XZ9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
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 |
