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Reviewed, UniProtKB/Swiss-Prot Q13492 (PICAL_HUMAN)

Last modified November 25, 2008. Version 75. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
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 namesRecommended name:
    Phosphatidylinositol-binding clathrin assembly protein
Alternative name(s):
    Clathrin assembly lymphoid myeloid leukemia protein
Gene names
Name: PICALM
Synonyms: CALM
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length652 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence 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

Membraneclathrin-coated pit. Golgi apparatus. Cytoplasmic vesicleclathrin-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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 652652Phosphatidylinositol-binding clathrin assembly protein
PRO_0000187062

Regions

Domain14 – 145132ENTH

Sites

Site648 – 6492Breakpoint for translocation to form CALM/MLLT10 fusion protein

Natural variations

Alternative sequence420 – 46950Missing in isoform 3.
VSP_009607
Alternative sequence5931M → MNGMHFPQY in isoform 3.
VSP_009608
Alternative sequence594 – 61320Missing in isoform 2.
VSP_004067
Natural variant1581T → P: dbSNP rs12800974.
VAR_028191
Natural variant3831S → F: dbSNP rs12222608.
VAR_028192
Natural variant5781W → C: dbSNP rs1043858.
VAR_028193
Natural variant5791Q → E: dbSNP rs1043859.
VAR_028194
Natural variant6411F → L: dbSNP rs556337.
VAR_028195

Experimental info

Sequence conflict2121N → H in AAB07762. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Type I) [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: AC3227E9D32AFEDA

FASTA65270,755
        10         20         30         40         50         60 
MSGQSLTDRI TAAQHSVTGS AVSKTVCKAT THEIMGPKKK HLDYLIQCTN EMNVNIPQLA 

        70         80         90        100        110        120 
DSLFERTTNS SWVVVFKSLI TTHHLMVYGN ERFIQYLASR NTLFNLSNFL DKSGLQGYDM 

       130        140        150        160        170        180 
STFIRRYSRY LNEKAVSYRQ VAFDFTKVKR GADGVMRTMN TEKLLKTVPI IQNQMDALLD 

       190        200        210        220        230        240 
FNVNSNELTN GVINAAFMLL FKDAIRLFAA YNEGIINLLE KYFDMKKNQC KEGLDIYKKF 

       250        260        270        280        290        300 
LTRMTRISEF LKVAEQVGID RGDIPDLSQA PSSLLDALEQ HLASLEGKKI KDSTAASRAT 

       310        320        330        340        350        360 
TLSNAVSSLA STGLSLTKVD EREKQAALEE EQARLKALKE QRLKELAKKP HTSLTTAASP 

       370        380        390        400        410        420 
VSTSAGGIMT APAIDIFSTP SSSNSTSKLP NDLLDLQQPT FHPSVHPMST ASQVASTWGD 

       430        440        450        460        470        480 
PFSATVDAVD DAIPSLNPFL TKSSGDVHLS ISSDVSTFTT RTPTHEMFVG FTPSPVAQPH 

       490        500        510        520        530        540 
PSAGLNVDFE SVFGNKSTNV IVDSGGFDEL GGLLKPTVAS QNQNLPVAKL PPSKLVSDDL 

       550        560        570        580        590        600 
DSSLANLVGN LGIGNGTTKN DVNWSQPGEK KLTGGSNWQP KVAPTTAWNA ATMAPPVMAY 

       610        620        630        640        650 
PATTPTGMIG YGIPPQMGSV PVMTQPTLIY SQPVMRPPNP FGPVSGAQIQ FM 

« Hide

Isoform 2 (Type II) [UniParc].

Checksum: D13D4427A30EE4FD
Show »

63268,764
Isoform 3 [UniParc].

Checksum: 3B0D0AEB901CF85D
Show »

61066,393

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.
RefSeqNP_001008660.1.
NP_009097.2.
UniGeneHs.163893

3D structure databases

HSSPHSSP built from PDB template 1HG5 based on UniProtKB O55011.
SMRQ13492. Positions 19-281.
ModBaseSearch...

PTM databases

PhosphoSiteQ13492.

Genome annotation databases

EnsemblENSG00000073921. Homo sapiens. [Contig view]
GeneID8301.
KEGGhsa:8301.

Organism-specific databases

H-InvDBHIX0026132.
HGNCHGNC:15514. PICALM.
MIM603025. gene.
PharmGKBPA33287.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOVERGENQ13492.

Gene expression databases

ArrayExpressQ13492.
CleanExHS_PICALM.
GermOnlineENSG00000073921. Homo sapiens.

Family and domain databases

InterProIPR011417. ANTH.
IPR014712. Clathrin_Pinositid-bd_GAT-like.
IPR008942. ENTH_VHS.
IPR013809. Epsin-like_N.
[Graphical view]
Gene3DG3DSA:1.25.40.90. ENTH_VHS. 1 hit.
G3DSA:1.20.58.150. Pinositid-bd_clathrin_GAT-like. 1 hit.
PfamPF07651. ANTH. 1 hit.
[Graphical view]
SMARTSM00273. ENTH. 1 hit.
[Graphical view]
PROSITEPS50942. ENTH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

LinkHubQ13492.
NextBio31101.
SOURCESearch...

Entry information

Entry namePICAL_HUMAN
AccessionPrimary (citable) accession number: Q13492
Secondary accession number(s): O60700, Q86XZ9
Entry history
Integrated into UniProtKB/Swiss-Prot: November 15, 2002
Last sequence update: October 17, 2006
Last modified: November 25, 2008
This is version 75 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (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

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents