MERTK

Protein identityUniProt · HPA

UniProt accession

Q12866

Gene

MERTK

Ensembl

ENSG00000153208

Chromosome

2

Canonical length

999 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Plasma membrane,Midbody,Cytosol,Acrosome,Mid piece,Principal piece

OverviewNCBI Gene

This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

999 residues, UniProt reviewed canonical sequence.

>Q12866|MERTK
     1  MGPAPLPLLL GLFLPALWRR AITEAREEAK PYPLFPGPFP GSLQTDHTPL LSLPHASGYQ
    61  PALMFSPTQP GRPHTGNVAI PQVTSVESKP LPPLAFKHTV GHIILSEHKG VKFNCSISVP
   121  NIYQDTTISW WKDGKELLGA HHAITQFYPD DEVTAIIASF SITSVQRSDN GSYICKMKIN
   181  NEEIVSDPIY IEVQGLPHFT KQPESMNVTR NTAFNLTCQA VGPPEPVNIF WVQNSSRVNE
   241  QPEKSPSVLT VPGLTEMAVF SCEAHNDKGL TVSKGVQINI KAIPSPPTEV SIRNSTAHSI
   301  LISWVPGFDG YSPFRNCSIQ VKEADPLSNG SVMIFNTSAL PHLYQIKQLQ ALANYSIGVS
   361  CMNEIGWSAV SPWILASTTE GAPSVAPLNV TVFLNESSDN VDIRWMKPPT KQQDGELVGY
   421  RISHVWQSAG ISKELLEEVG QNGSRARISV QVHNATCTVR IAAVTRGGVG PFSDPVKIFI
   481  PAHGWVDYAP SSTPAPGNAD PVLIIFGCFC GFILIGLILY ISLAIRKRVQ ETKFGNAFTE
   541  EDSELVVNYI AKKSFCRRAI ELTLHSLGVS EELQNKLEDV VIDRNLLILG KILGEGEFGS
   601  VMEGNLKQED GTSLKVAVKT MKLDNSSQRE IEEFLSEAAC MKDFSHPNVI RLLGVCIEMS
   661  SQGIPKPMVI LPFMKYGDLH TYLLYSRLET GPKHIPLQTL LKFMVDIALG MEYLSNRNFL
   721  HRDLAARNCM LRDDMTVCVA DFGLSKKIYS GDYYRQGRIA KMPVKWIAIE SLADRVYTSK
   781  SDVWAFGVTM WEIATRGMTP YPGVQNHEMY DYLLHGHRLK QPEDCLDELY EIMYSCWRTD
   841  PLDRPTFSVL RLQLEKLLES LPDVRNQADV IYVNTQLLES SEGLAQGSTL APLDLNIDPD
   901  SIIASCTPRA AISVVTAEVH DSKPHEGRYI LNGGSEEWED LTSAPSAAVT AEKNSVLPGE
   961  RLVRNGVSWS HSSMLPLGSS LPDELLFADD SSEGSEVLM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MERTK can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.4

Highest tissue expression

90 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MERTK.

Disease | AllUniProt

Conditions MERTK is implicated in, by any mechanism.

• Retinitis pigmentosa 38 (RP38) MIM:613862

Disease | GeneticClinVar

128 pathogenic / likely-pathogenic of 903 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Retinitis pigmentosa 38
• Retinal dystrophy
• Retinitis pigmentosa
• Autosomal recessive retinitis pigmentosa
• MERTK-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.75

gnomAD pLI

0

gnomAD missense Z

0.59

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell migration
• cell surface receptor protein tyrosine kinase signaling pathway
• cell surface receptor signaling pathway
• cell-cell signaling
• establishment of localization in cell
• natural killer cell differentiation
• negative regulation of cytokine production
• negative regulation of leukocyte apoptotic process
• negative regulation of lymphocyte activation
• nervous system development
• neutrophil clearance
• phagocytosis
• platelet activation
• positive regulation of phagocytosis
• positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
• protein phosphorylation
• retina development in camera-type eye
• secretion by cell
• spermatogenesis
• substrate adhesion-dependent cell spreading
• vagina development

Molecular functions

• ATP binding
• transmembrane receptor protein tyrosine kinase activity

Cellular components

• cytoplasm
• extracellular space
• photoreceptor outer segment
• plasma membrane
• receptor complex

Protein domainsUniProt · Pfam · InterPro

• Protein kinase domain
• Serine-threonine/tyrosine-protein kinase, catalytic domain
• Immunoglobulin domain subtype
• Fibronectin type III
• Immunoglobulin-like domain
• Tyrosine-protein kinase, active site
• Protein kinase-like domain superfamily
• Immunoglobulin-like beta-sandwich domain
• Immunoglobulin-like fold
• Protein kinase, ATP binding site
• Tyrosine-protein kinase, catalytic domain
• Fibronectin type III superfamily
• Immunoglobulin-like domain superfamily
• Receptor Tyrosine Kinase
• Fibronectin type III domain
• Immunoglobulin domain
• Protein tyrosine and serine/threonine kinase
• Immunoglobulin domain

KeywordsUniProt

• ATP-binding
• Cell membrane
• Disulfide bond
• Glycoprotein
• Immunoglobulin domain
• Kinase
• Membrane
• Nucleotide-binding
• Phosphoprotein
• Proto-oncogene
• Receptor
• Repeat
• Retinitis pigmentosa
• Signal
• Transferase
• Transmembrane
• Transmembrane helix
• Tyrosine-protein kinase

InteractionsUniProt · HPA

Protein binding partners of MERTK in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TIMD4
• VAV1
• TNK2