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Protein

SLIT and NTRK-like protein 6

Gene

SLITRK6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Regulator of neurite outgrowth required for normal hearing and vision.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Hearing, Sensory transduction, Vision

Enzyme and pathway databases

BioCyciZFISH:ENSG00000177877-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
SLIT and NTRK-like protein 6
Gene namesi
Name:SLITRK6
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:23503. SLITRK6.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini27 – 608ExtracellularSequence analysisAdd BLAST582
Transmembranei609 – 629HelicalSequence analysisAdd BLAST21
Topological domaini630 – 841CytoplasmicSequence analysisAdd BLAST212

GO - Cellular componenti

  • cell surface Source: MGI
  • integral component of plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Deafness and myopia (DFNMYP)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by prelingual sensorineural hearing loss associated with high myopia.
See also OMIM:221200

Keywords - Diseasei

Deafness

Organism-specific databases

DisGeNETi84189.
MalaCardsiSLITRK6.
MIMi221200. phenotype.
OpenTargetsiENSG00000184564.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
363396. High myopia-sensorineural deafness syndrome.
PharmGKBiPA134928433.

Polymorphism and mutation databases

BioMutaiSLITRK6.
DMDMi59803110.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000003268327 – 841SLIT and NTRK-like protein 6Add BLAST815

Proteomic databases

EPDiQ9H5Y7.
MaxQBiQ9H5Y7.
PaxDbiQ9H5Y7.
PeptideAtlasiQ9H5Y7.
PRIDEiQ9H5Y7.

PTM databases

iPTMnetiQ9H5Y7.
PhosphoSitePlusiQ9H5Y7.

Expressioni

Tissue specificityi

In adult brain, highly expressed in putamen with no expression in cerebral cortex. Expressed in adult and fetal lung and fetal liver. Also expressed at high levels in some brain tumors including medulloblastomas and primitive neuroectodermal tumors.1 Publication

Gene expression databases

BgeeiENSG00000184564.
CleanExiHS_SLITRK6.
GenevisibleiQ9H5Y7. HS.

Organism-specific databases

HPAiHPA014491.

Interactioni

Protein-protein interaction databases

IntActiQ9H5Y7. 1 interactor.
STRINGi9606.ENSP00000383143.

Structurei

3D structure databases

ProteinModelPortaliQ9H5Y7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini27 – 67LRRNT 1Add BLAST41
Repeati89 – 110LRR 1Add BLAST22
Repeati113 – 134LRR 2Add BLAST22
Repeati137 – 158LRR 3Add BLAST22
Repeati161 – 182LRR 4Add BLAST22
Repeati184 – 205LRR 5Add BLAST22
Domaini218 – 269LRRCT 1Add BLAST52
Domaini320 – 361LRRNT 2Add BLAST42
Repeati364 – 385LRR 6Add BLAST22
Repeati388 – 409LRR 7Add BLAST22
Repeati412 – 433LRR 8Add BLAST22
Repeati436 – 457LRR 9Add BLAST22
Repeati460 – 481LRR 10Add BLAST22
Repeati483 – 504LRR 11Add BLAST22
Domaini517 – 568LRRCT 2Add BLAST52

Sequence similaritiesi

Belongs to the SLITRK family.Curated
Contains 11 LRR (leucine-rich) repeats.Curated
Contains 2 LRRCT domains.Curated
Contains 2 LRRNT domains.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGN5. Eukaryota.
ENOG4111D19. LUCA.
GeneTreeiENSGT00790000122963.
HOGENOMiHOG000290667.
HOVERGENiHBG056407.
InParanoidiQ9H5Y7.
OMAiLCTSPGH.
OrthoDBiEOG091G02AI.
PhylomeDBiQ9H5Y7.
TreeFamiTF326378.

Family and domain databases

Gene3Di3.80.10.10. 4 hits.
InterProiIPR000483. Cys-rich_flank_reg_C.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF13855. LRR_8. 2 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 9 hits.
SM00082. LRRCT. 2 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS51450. LRR. 9 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9H5Y7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKLWIHLFYS SLLACISLHS QTPVLSSRGS CDSLCNCEEK DGTMLINCEA
60 70 80 90 100
KGIKMVSEIS VPPSRPFQLS LLNNGLTMLH TNDFSGLTNA ISIHLGFNNI
110 120 130 140 150
ADIEIGAFNG LGLLKQLHIN HNSLEILKED TFHGLENLEF LQADNNFITV
160 170 180 190 200
IEPSAFSKLN RLKVLILNDN AIESLPPNIF RFVPLTHLDL RGNQLQTLPY
210 220 230 240 250
VGFLEHIGRI LDLQLEDNKW ACNCDLLQLK TWLENMPPQS IIGDVVCNSP
260 270 280 290 300
PFFKGSILSR LKKESICPTP PVYEEHEDPS GSLHLAATSS INDSRMSTKT
310 320 330 340 350
TSILKLPTKA PGLIPYITKP STQLPGPYCP IPCNCKVLSP SGLLIHCQER
360 370 380 390 400
NIESLSDLRP PPQNPRKLIL AGNIIHSLMK SDLVEYFTLE MLHLGNNRIE
410 420 430 440 450
VLEEGSFMNL TRLQKLYLNG NHLTKLSKGM FLGLHNLEYL YLEYNAIKEI
460 470 480 490 500
LPGTFNPMPK LKVLYLNNNL LQVLPPHIFS GVPLTKVNLK TNQFTHLPVS
510 520 530 540 550
NILDDLDLLT QIDLEDNPWD CSCDLVGLQQ WIQKLSKNTV TDDILCTSPG
560 570 580 590 600
HLDKKELKAL NSEILCPGLV NNPSMPTQTS YLMVTTPATT TNTADTILRS
610 620 630 640 650
LTDAVPLSVL ILGLLIMFIT IVFCAAGIVV LVLHRRRRYK KKQVDEQMRD
660 670 680 690 700
NSPVHLQYSM YGHKTTHHTT ERPSASLYEQ HMVSPMVHVY RSPSFGPKHL
710 720 730 740 750
EEEEERNEKE GSDAKHLQRS LLEQENHSPL TGSNMKYKTT NQSTEFLSFQ
760 770 780 790 800
DASSLYRNIL EKERELQQLG ITEYLRKNIA QLQPDMEAHY PGAHEELKLM
810 820 830 840
ETLMYSRPRK VLVEQTKNEY FELKANLHAE PDYLEVLEQQ T
Length:841
Mass (Da):95,110
Last modified:February 15, 2005 - v3
Checksum:i53B0D9293D53B9B5
GO

Sequence cautioni

The sequence BAB13941 differs from that shown. Aberrant splicing.Curated
The sequence BAB13941 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15480 differs from that shown. Reason: Frameshift at positions 468, 489, 501 and 519.Curated
The sequence BAB15480 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02775825L → F.Corresponds to variant rs12863734dbSNPEnsembl.1
Natural variantiVAR_027759315P → R.Corresponds to variant rs9547378dbSNPEnsembl.1
Natural variantiVAR_027760414Q → R.Corresponds to variant rs17080147dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK021931 mRNA. Translation: BAB13941.1. Sequence problems.
AK026427 mRNA. Translation: BAB15480.1. Sequence problems.
AK292793 mRNA. Translation: BAF85482.1.
AL137517 mRNA. Translation: CAB70783.3.
BX648640 mRNA. Translation: CAH10557.1.
AL162373 Genomic DNA. No translation available.
CH471093 Genomic DNA. Translation: EAW80611.1.
BC101070 mRNA. Translation: AAI01071.1.
BC101071 mRNA. Translation: AAI01072.1.
BC101072 mRNA. Translation: AAI01073.1.
BC101073 mRNA. Translation: AAI01074.1.
CCDSiCCDS41903.1.
PIRiT46279.
RefSeqiNP_115605.2. NM_032229.2.
UniGeneiHs.525105.

Genome annotation databases

EnsembliENST00000400286; ENSP00000383143; ENSG00000184564.
GeneIDi84189.
KEGGihsa:84189.
UCSCiuc001vll.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK021931 mRNA. Translation: BAB13941.1. Sequence problems.
AK026427 mRNA. Translation: BAB15480.1. Sequence problems.
AK292793 mRNA. Translation: BAF85482.1.
AL137517 mRNA. Translation: CAB70783.3.
BX648640 mRNA. Translation: CAH10557.1.
AL162373 Genomic DNA. No translation available.
CH471093 Genomic DNA. Translation: EAW80611.1.
BC101070 mRNA. Translation: AAI01071.1.
BC101071 mRNA. Translation: AAI01072.1.
BC101072 mRNA. Translation: AAI01073.1.
BC101073 mRNA. Translation: AAI01074.1.
CCDSiCCDS41903.1.
PIRiT46279.
RefSeqiNP_115605.2. NM_032229.2.
UniGeneiHs.525105.

3D structure databases

ProteinModelPortaliQ9H5Y7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9H5Y7. 1 interactor.
STRINGi9606.ENSP00000383143.

PTM databases

iPTMnetiQ9H5Y7.
PhosphoSitePlusiQ9H5Y7.

Polymorphism and mutation databases

BioMutaiSLITRK6.
DMDMi59803110.

Proteomic databases

EPDiQ9H5Y7.
MaxQBiQ9H5Y7.
PaxDbiQ9H5Y7.
PeptideAtlasiQ9H5Y7.
PRIDEiQ9H5Y7.

Protocols and materials databases

DNASUi84189.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000400286; ENSP00000383143; ENSG00000184564.
GeneIDi84189.
KEGGihsa:84189.
UCSCiuc001vll.2. human.

Organism-specific databases

CTDi84189.
DisGeNETi84189.
GeneCardsiSLITRK6.
HGNCiHGNC:23503. SLITRK6.
HPAiHPA014491.
MalaCardsiSLITRK6.
MIMi221200. phenotype.
609681. gene.
neXtProtiNX_Q9H5Y7.
OpenTargetsiENSG00000184564.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
363396. High myopia-sensorineural deafness syndrome.
PharmGKBiPA134928433.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGN5. Eukaryota.
ENOG4111D19. LUCA.
GeneTreeiENSGT00790000122963.
HOGENOMiHOG000290667.
HOVERGENiHBG056407.
InParanoidiQ9H5Y7.
OMAiLCTSPGH.
OrthoDBiEOG091G02AI.
PhylomeDBiQ9H5Y7.
TreeFamiTF326378.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000177877-MONOMER.

Miscellaneous databases

GeneWikiiSLITRK6.
GenomeRNAii84189.
PROiQ9H5Y7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000184564.
CleanExiHS_SLITRK6.
GenevisibleiQ9H5Y7. HS.

Family and domain databases

Gene3Di3.80.10.10. 4 hits.
InterProiIPR000483. Cys-rich_flank_reg_C.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF13855. LRR_8. 2 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 9 hits.
SM00082. LRRCT. 2 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS51450. LRR. 9 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSLIK6_HUMAN
AccessioniPrimary (citable) accession number: Q9H5Y7
Secondary accession number(s): A8K9S8
, Q495Q0, Q6AW93, Q9HAA8, Q9NT60
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: February 15, 2005
Last modified: November 2, 2016
This is version 130 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.