RBCC

GAK_HUMAN

Source: PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: GAK
Protein names and data: GAK_HUMAN , Cyclin-G-associated kinase; 2.7.11.1 Lenght: 1311 a.a.
Mass: 143191 Da
fasta formatted sequence
Function: Associates with cyclin G and CDK5. Seems to act as an auxilin homolog that is involved in the uncoating of clathrin- coated vesicles by Hsc70 in non-neuronal cells. Expression oscillates slightly during the cell cycle, peaking at G1.
Catalytic activity: ATP + a protein = ADP + a phosphoprotein.
Cellular location: Cytoplasm, perinuclear region. Golgi apparatus, trans-Golgi network. Cell junction, focal adhesion (Probable). Note=Localizes to the perinuclear area and to the trans-Golgi network. Also seen on the plasma membrane, probably at focal adhesions.
Tissue specificity: Ubiquitous. Highest in testis.

Genetic variants

144 - 144 S -> L. VAR_040505
580 - 580 V -> M (in dbSNP:rs34255232). VAR_040506 34255232
787 - 787 D -> Y (in dbSNP:rs34585705). VAR_040507 34585705
877 - 877 Q -> R (in dbSNP:rs149842313). VAR_040508 149842313
962 - 962 G -> D (in a lung neuroendocrine carcinoma sample; somatic mutation). VAR_040509
1051 - 1051 T -> M (in dbSNP:rs35227944). VAR_040510 35227944
1120 - 1120 Q -> H (in dbSNP:rs55801437). VAR_040511 55801437
1137 - 1137 P -> L (in dbSNP:rs56169884). VAR_040512 56169884
1168 - 1168 S -> N (in dbSNP:rs56326341). VAR_040513 56326341
1265 - 1265 K -> R (in dbSNP:rs2306242). VAR_040514 2306242
1297 - 1297 D -> N (in dbSNP:rs1134921). VAR_040515 1134921

Database cross-references

UniProt: O14976
Ensembl: ENST00000314167
MIM: 602052
neXtProt: NX_O14976
Antibodypedia: O14976 (may not find the protein thus also not any antibody)
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RBCC Red Blood Cell Collection

GAK_HUMAN

Genetic variants

Database cross-references

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