PICALM, fosfatidyyli-inositolia sitova klatriinia koostava proteiini

https://www.youtube.com/watch?v=QzGrvCHgQO0
https://www.ncbi.nlm.nih.gov/gene/8301 

Official Symbol

PICALMprovided by HGNC

Official Full Name

phosphatidylinositol binding clathrin assembly proteinprovided by HGNC

Also known as

LAP; CALM; CLTH

Preferred Names

phosphatidylinositol-binding clathrin assembly protein

Names

clathrin assembly lymphoid myeloid leukemia protein

Summary

This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

Expression

Ubiquitous expression in fat (RPKM 64.4), appendix (RPKM 52.9) and 25 other tissues See more

Orthologsmouse all

Bibliography

Related articles in PubMed

1. PICALM Gene Methylation in Blood of Alzheimer's Disease Patients Is Associated with Cognitive Decline. Mercorio R, et al. J Alzheimers Dis, 2018. PMID 30040717

GeneRIFs: Gene References Into Functions

 https://www.ncbi.nlm.nih.gov/pubmed/30472946

 We found statistically significant association between the AD risk variant PICALM GG and increase in the P3 latency in subjects over 50 years old. The age-dependent increase in the P3 latency was more pronounced in the PICALM GG carriers than in the carriers of the PICALM AA and PICALM AG genotypes.

 https://www.ncbi.nlm.nih.gov/protein/NP_001008660.1

 

                /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.2"
     Protein         1..610
                     /product="phosphatidylinositol-binding clathrin assembly
                     protein isoform 2"
                     /note="clathrin assembly lymphoid myeloid leukemia
                     protein"
                     /calculated_mol_wt=66262
     Region          24..282
                     /region_name="ANTH"
                     /note="ANTH domain; pfam07651"
                     /db_xref="CDD:311541"
     Site            order(28,38,40..41)
                     /site_type="other"
                     /note="PtdIns(4,5)P2-binding site"
                     /db_xref="CDD:239622"
     Region          <268 ..="">366
                     /region_name="COG4223"
                     /note="Uncharacterized conserved protein [Function
                     unknown]"
                     /db_xref="CDD:226676"
     CDS             1..610
                     /gene="PICALM"
                     /gene_synonym="CALM; CLTH; LAP"
                     /coded_by="NM_001008660.3:305..2137"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS31653.1"
                     /db_xref="GeneID:8301"
                     /db_xref="HGNC:HGNC:15514"
                     /db_xref="MIM:603025"
ORIGIN      
        1 msgqsltdri taaqhsvtgs avsktvckat theimgpkkk hldyliqctn emnvnipqla
       61 dslferttns swvvvfksli tthhlmvygn erfiqylasr ntlfnlsnfl dksglqgydm
      121 stfirrysry lnekavsyrq vafdftkvkr gadgvmrtmn tekllktvpi iqnqmdalld
      181 fnvnsneltn gvinaafmll fkdairlfaa ynegiinlle kyfdmkknqc kegldiykkf
      241 ltrmtrisef lkvaeqvgid rgdipdlsqa psslldaleq hlaslegkki kdstaasrat
      301 tlsnavssla stglsltkvd erekqaalee eqarlkalke qrlkelakkp htslttaasp
      361 vstsaggimt apaidifstp sssnstsklp ndlldlqqpt fhpsvhpmst asqvastwgg
      421 ftpspvaqph psaglnvdfe svfgnkstnv ivdsggfdel ggllkptvas qnqnlpvakl
      481 ppsklvsddl dsslanlvgn lgigngttkn dvnwsqpgek kltggsnwqp kvapttawna
      541 atmngmhfpq yappvmaypa ttptgmigyg ippqmgsvpv mtqptliysq pvmrppnpfg
      601 pvsgaqiqfm
//

(PIP2 koostumuksen  merkitys: PIP2:n  rasvahappokoostumus  on riippuvainen ravinnosta.

Fosftidyyli-inositolit valitsevat ensisijassa fosfatidyyliin rasvahappoja steariinihappo sn1 asemaan ja arakidonihappo sn2 asemaan.   Katson  tätä  PIP2;n  "kiinnitysvartta", pitkien  rasvahappojen kohtaa tarkemmin, varsinkin  steariinihaposta seuraavassa muistiinpanoa)