RBCC Red Blood Cell Collection

MERTK_HUMAN

Source: PM19886704
PM23856902
Marked as 'Integral membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: MERTK , MER
Protein names and data: MERTK_HUMAN , Tyrosine-protein kinase Mer; 2.7.10.1 , Proto-oncogene c-Mer; Receptor tyrosine kinase MerTK; Flags: Precursor Lenght: 999 a.a.
Mass: 110249 Da
fasta formatted sequence
Function: Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including LGALS3, TUB, TULP1 or GAS6. Regulates many physiological processes including cell survival, migration, differentiation, and phagocytosis of apoptotic cells (efferocytosis). Ligand binding at the cell surface induces autophosphorylation of MERTK on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with GRB2 or PLCG2 and induces phosphorylation of MAPK1, MAPK2, FAK/PTK2 or RAC1. MERTK signaling plays a role in various processes such as macrophage clearance of apoptotic cells, platelet aggregation, cytoskeleton reorganization and engulfment. Functions in the retinal pigment epithelium (RPE) as a regulator of rod outer segments fragments phagocytosis. Plays also an important role in inhibition of Toll- like receptors (TLRs)-mediated innate immune response by activating STAT1, which selectively induces production of suppressors of cytokine signaling SOCS1 and SOCS3.
Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
Disease: ( OMIM: 604705 613862 ) Retinitis pigmentosa 38 (RP38) [MIM:613862]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Membrane; Single-pass type I membrane protein (By similarity).
Tissue specificity: Not expressed in normal B- and T-lymphocytes but is expressed in numerous neoplastic B- and T-cell lines. Highly expressed in testis, ovary, prostate, lung, and kidney, with lower expression in spleen, small intestine, colon, and liver.

Genetic variants

20 - 20 R -> S (in dbSNP:rs35898499). VAR_021039 35898499
118 - 118 S -> N (in dbSNP:rs13027171). VAR_021040 13027171
185 - 185 V -> M (in dbSNP:rs56205303). VAR_041741 56205303
214 - 214 F -> V (found in a patient with Leber congenital amaurosis). VAR_067194
282 - 282 A -> T (in dbSNP:rs7588635). VAR_021041 7588635
289 - 289 E -> K. VAR_041742
293 - 293 R -> H (in dbSNP:rs34072093). VAR_021042 34072093
329 - 329 N -> S (in dbSNP:rs34943572). VAR_051698 34943572
446 - 446 A -> G (in a renal clear cell carcinoma sample; somatic mutation). VAR_041743
452 - 452 V -> L (in dbSNP:rs34010621). VAR_041744 34010621
466 - 466 R -> K (in dbSNP:rs7604639). VAR_021043 7604639
498 - 498 N -> S (in dbSNP:rs35858762). VAR_021044 35858762
518 - 518 I -> V (in dbSNP:rs2230515). VAR_021045 2230515
540 - 540 E -> K (in RP38; dbSNP:rs113485015). VAR_021046 113485015
661 - 661 S -> C (in RP38). VAR_021047
662 - 662 Q -> E (in dbSNP:rs56209758). VAR_041745 56209758
708 - 708 A -> S (in a head & Neck squamous cell carcinoma sample; somatic mutation). VAR_041746
823 - 823 E -> Q (in dbSNP:rs55924349). VAR_041747 55924349
865 - 865 R -> W (in dbSNP:rs2230516). VAR_020285 2230516
870 - 870 V -> I (in dbSNP:rs2230517). VAR_029237 2230517
871 - 871 I -> T (in RP38). VAR_021048
871 - 871 I -> V. VAR_021049
958 - 958 P -> L (found in a patient with Leber congenital amaurosis; dbSNP:rs201460398). VAR_067195 201460398

Database cross-references

UniProt: Q12866
Ensembl: ENST00000295408
Ensembl: ENST00000421804
MIM: 604705
MIM: 613862
neXtProt: NX_Q12866
Antibodypedia: Q12866 (may not find the protein thus also not any antibody)
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