Seroatlas · Human Serome Atlas

SLITRK6

SLIT and NTRK-like protein 6

Also known as: FLJ22774, SLIK6_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9H5Y7
Gene: SLITRK6
Ensembl: ENSG00000184564
Chromosome: 13
Canonical length: 841 aa
Protein class: Disease related genes, Human disease related genes, Predicted membrane proteins
Subcellular location: Plasma membrane

OverviewNCBI Gene

This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014]

Canonical amino-acid sequenceUniProt

841 residues, UniProt reviewed canonical sequence.

>Q9H5Y7|SLITRK6
     1  MKLWIHLFYS SLLACISLHS QTPVLSSRGS CDSLCNCEEK DGTMLINCEA KGIKMVSEIS
    61  VPPSRPFQLS LLNNGLTMLH TNDFSGLTNA ISIHLGFNNI ADIEIGAFNG LGLLKQLHIN
   121  HNSLEILKED TFHGLENLEF LQADNNFITV IEPSAFSKLN RLKVLILNDN AIESLPPNIF
   181  RFVPLTHLDL RGNQLQTLPY VGFLEHIGRI LDLQLEDNKW ACNCDLLQLK TWLENMPPQS
   241  IIGDVVCNSP PFFKGSILSR LKKESICPTP PVYEEHEDPS GSLHLAATSS INDSRMSTKT
   301  TSILKLPTKA PGLIPYITKP STQLPGPYCP IPCNCKVLSP SGLLIHCQER NIESLSDLRP
   361  PPQNPRKLIL AGNIIHSLMK SDLVEYFTLE MLHLGNNRIE VLEEGSFMNL TRLQKLYLNG
   421  NHLTKLSKGM FLGLHNLEYL YLEYNAIKEI LPGTFNPMPK LKVLYLNNNL LQVLPPHIFS
   481  GVPLTKVNLK TNQFTHLPVS NILDDLDLLT QIDLEDNPWD CSCDLVGLQQ WIQKLSKNTV
   541  TDDILCTSPG HLDKKELKAL NSEILCPGLV NNPSMPTQTS YLMVTTPATT TNTADTILRS
   601  LTDAVPLSVL ILGLLIMFIT IVFCAAGIVV LVLHRRRRYK KKQVDEQMRD NSPVHLQYSM
   661  YGHKTTHHTT ERPSASLYEQ HMVSPMVHVY RSPSFGPKHL EEEEERNEKE GSDAKHLQRS
   721  LLEQENHSPL TGSNMKYKTT NQSTEFLSFQ DASSLYRNIL EKERELQQLG ITEYLRKNIA
   781  QLQPDMEAHY PGAHEELKLM ETLMYSRPRK VLVEQTKNEY FELKANLHAE PDYLEVLEQQ
   841  T

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLITRK6 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: 26 nTPM

Expression across tissuesHPA

Tissue

salivary gland: 26 nTPM
urinary bladder: 14 nTPM
prostate: 7.1 nTPM
rectum: 6.4 nTPM
small intestine: 5.4 nTPM
skin: 5.3 nTPM

Single-cell type

respiratory basal cells: 95 nCPM
prostatic hillock cells: 83 nCPM
respiratory ciliated cells: 80 nCPM
respiratory secretory cells: 79 nCPM
respiratory deuterosomal cells: 64 nCPM
conjunctival goblet cells: 62 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

thalamus: 12 nTPM
basal ganglia: 9.9 nTPM
midbrain: 5.5 nTPM
cerebellum: 4.9 nTPM
hypothalamus: 4.4 nTPM
amygdala: 2.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLITRK6.

Disease | AllUniProt

Conditions SLITRK6 is implicated in, by any mechanism.

Deafness and myopia (DFNMYP) MIM:221200

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 304 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

High myopia-sensorineural deafness syndrome
SLITRK6-related disorder
Global developmental delay

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): 1.27
gnomAD pLI: 0
gnomAD missense Z: -0.38
DepMap mean gene effect: 0.07
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLITRK6 as an antibody target. Whether an autoantibody or antibody against SLITRK6 could matter depends on whether native SLITRK6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLITRK6 is annotated at the cell surface, where native SLITRK6 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SLITRK6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...