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Protein

Immunoglobulin superfamily containing leucine-rich repeat protein 2

Gene

ISLR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Required for axon extension during neural development.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Neurogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Immunoglobulin superfamily containing leucine-rich repeat protein 2
Alternative name(s):
Leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein
Gene namesi
Name:ISLR2
Synonyms:KIAA1465, LINX
ORF Names:UNQ1885/PRO4329
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:29286. ISLR2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini19 – 589ExtracellularSequence analysisAdd BLAST571
Transmembranei590 – 610HelicalSequence analysisAdd BLAST21
Topological domaini611 – 745CytoplasmicSequence analysisAdd BLAST135

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000167178.
PharmGKBiPA143485505.

Polymorphism and mutation databases

BioMutaiISLR2.
DMDMi74758577.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000031749819 – 745Immunoglobulin superfamily containing leucine-rich repeat protein 2Add BLAST727

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi52N-linked (GlcNAc...)Sequence analysis1
Glycosylationi121N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi260 ↔ 355PROSITE-ProRule annotation
Glycosylationi337N-linked (GlcNAc...)Sequence analysis1
Glycosylationi364N-linked (GlcNAc...)Sequence analysis1
Glycosylationi474N-linked (GlcNAc...)Sequence analysis1
Glycosylationi563N-linked (GlcNAc...)Sequence analysis1
Modified residuei719PhosphotyrosineBy similarity1
Modified residuei720PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ6UXK2.
PeptideAtlasiQ6UXK2.
PRIDEiQ6UXK2.

PTM databases

iPTMnetiQ6UXK2.
PhosphoSitePlusiQ6UXK2.

Expressioni

Gene expression databases

BgeeiENSG00000167178.
CleanExiHS_ISLR2.
ExpressionAtlasiQ6UXK2. baseline and differential.
GenevisibleiQ6UXK2. HS.

Organism-specific databases

HPAiHPA012930.
HPA067333.

Interactioni

Subunit structurei

Homomultimer. Interacts with NTRK1/TrkA (By similarity).By similarity

Protein-protein interaction databases

BioGridi121658. 1 interactor.
IntActiQ6UXK2. 1 interactor.
MINTiMINT-6598539.
STRINGi9606.ENSP00000355402.

Structurei

3D structure databases

ProteinModelPortaliQ6UXK2.
SMRiQ6UXK2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini19 – 51LRRNTAdd BLAST33
Repeati52 – 73LRR 1Add BLAST22
Repeati76 – 97LRR 2Add BLAST22
Repeati100 – 123LRR 3Add BLAST24
Repeati124 – 145LRR 4Add BLAST22
Repeati148 – 169LRR 5Add BLAST22
Domaini181 – 232LRRCTAdd BLAST52
Domaini233 – 371Ig-likeAdd BLAST139

Sequence similaritiesi

Contains 5 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated
Contains 1 LRRNT domain.Curated

Keywords - Domaini

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

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00850000132257.
HOGENOMiHOG000113108.
HOVERGENiHBG100863.
InParanoidiQ6UXK2.
OMAiPRLQWQL.
OrthoDBiEOG091G03ZU.
PhylomeDBiQ6UXK2.
TreeFamiTF351112.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
3.80.10.10. 1 hit.
InterProiIPR000483. Cys-rich_flank_reg_C.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
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. 5 hits.
SM00082. LRRCT. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
SSF52058. SSF52058. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
PS51450. LRR. 6 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q6UXK2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MFPLRALWLV WALLGVAGSC PEPCACVDKY AHQFADCAYK ELREVPEGLP
60 70 80 90 100
ANVTTLSLSA NKITVLRRGA FADVTQVTSL WLAHNEVRTV EPGALAVLSQ
110 120 130 140 150
LKNLDLSHNF ISSFPWSDLR NLSALQLLKM NHNRLGSLPR DALGALPDLR
160 170 180 190 200
SLRINNNRLR TLAPGTFDAL SALSHLQLYH NPFHCGCGLV WLQAWAASTR
210 220 230 240 250
VSLPEPDSIA CASPPALQGV PVYRLPALPC APPSVHLSAE PPLEAPGTPL
260 270 280 290 300
RAGLAFVLHC IADGHPTPRL QWQLQIPGGT VVLEPPVLSG EDDGVGAEEG
310 320 330 340 350
EGEGDGDLLT QTQAQTPTPA PAWPAPPATP RFLALANGSL LVPLLSAKEA
360 370 380 390 400
GVYTCRAHNE LGANSTSIRV AVAATGPPKH APGAGGEPDG QAPTSERKST
410 420 430 440 450
AKGRGNSVLP SKPEGKIKGQ GLAKVSILGE TETEPEEDTS EGEEAEDQIL
460 470 480 490 500
ADPAEEQRCG NGDPSRYVSN HAFNQSAELK PHVFELGVIA LDVAEREARV
510 520 530 540 550
QLTPLAARWG PGPGGAGGAP RPGRRPLRLL YLCPAGGGAA VQWSRVEEGV
560 570 580 590 600
NAYWFRGLRP GTNYSVCLAL AGEACHVQVV FSTKKELPSL LVIVAVSVFL
610 620 630 640 650
LVLATVPLLG AACCHLLAKH PGKPYRLILR PQAPDPMEKR IAADFDPRAS
660 670 680 690 700
YLESEKSYPA GGEAGGEEPE DVQGEGLDED AEQGDPSGDL QREESLAACS
710 720 730 740
LVESQSKANQ EEFEAGSEYS DRLPLGAEAV NIAQEINGNY RQTAG
Length:745
Mass (Da):78,990
Last modified:July 5, 2004 - v1
Checksum:i7188FC3003EC2B7E
GO

Sequence cautioni

The sequence BAA95989 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti19S → P in BAF83156 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049881137S → F.Corresponds to variant rs3889598dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB040898 mRNA. Translation: BAA95989.2. Different initiation.
AY358316 mRNA. Translation: AAQ88682.1.
AK290467 mRNA. Translation: BAF83156.1.
CCDSiCCDS10259.1.
RefSeqiNP_001123608.1. NM_001130136.1.
NP_001123609.1. NM_001130137.1.
NP_001123610.1. NM_001130138.1.
NP_065902.1. NM_020851.2.
XP_011520142.1. XM_011521840.2.
XP_011520143.1. XM_011521841.1.
UniGeneiHs.254775.

Genome annotation databases

EnsembliENST00000361742; ENSP00000355402; ENSG00000167178.
ENST00000435464; ENSP00000411443; ENSG00000167178.
ENST00000453268; ENSP00000411834; ENSG00000167178.
ENST00000565159; ENSP00000455531; ENSG00000167178.
ENST00000565540; ENSP00000458080; ENSG00000167178.
GeneIDi57611.
KEGGihsa:57611.
UCSCiuc002axd.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB040898 mRNA. Translation: BAA95989.2. Different initiation.
AY358316 mRNA. Translation: AAQ88682.1.
AK290467 mRNA. Translation: BAF83156.1.
CCDSiCCDS10259.1.
RefSeqiNP_001123608.1. NM_001130136.1.
NP_001123609.1. NM_001130137.1.
NP_001123610.1. NM_001130138.1.
NP_065902.1. NM_020851.2.
XP_011520142.1. XM_011521840.2.
XP_011520143.1. XM_011521841.1.
UniGeneiHs.254775.

3D structure databases

ProteinModelPortaliQ6UXK2.
SMRiQ6UXK2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121658. 1 interactor.
IntActiQ6UXK2. 1 interactor.
MINTiMINT-6598539.
STRINGi9606.ENSP00000355402.

PTM databases

iPTMnetiQ6UXK2.
PhosphoSitePlusiQ6UXK2.

Polymorphism and mutation databases

BioMutaiISLR2.
DMDMi74758577.

Proteomic databases

PaxDbiQ6UXK2.
PeptideAtlasiQ6UXK2.
PRIDEiQ6UXK2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361742; ENSP00000355402; ENSG00000167178.
ENST00000435464; ENSP00000411443; ENSG00000167178.
ENST00000453268; ENSP00000411834; ENSG00000167178.
ENST00000565159; ENSP00000455531; ENSG00000167178.
ENST00000565540; ENSP00000458080; ENSG00000167178.
GeneIDi57611.
KEGGihsa:57611.
UCSCiuc002axd.3. human.

Organism-specific databases

CTDi57611.
GeneCardsiISLR2.
HGNCiHGNC:29286. ISLR2.
HPAiHPA012930.
HPA067333.
MIMi614179. gene.
neXtProtiNX_Q6UXK2.
OpenTargetsiENSG00000167178.
PharmGKBiPA143485505.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00850000132257.
HOGENOMiHOG000113108.
HOVERGENiHBG100863.
InParanoidiQ6UXK2.
OMAiPRLQWQL.
OrthoDBiEOG091G03ZU.
PhylomeDBiQ6UXK2.
TreeFamiTF351112.

Miscellaneous databases

ChiTaRSiISLR2. human.
GenomeRNAii57611.
PROiQ6UXK2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167178.
CleanExiHS_ISLR2.
ExpressionAtlasiQ6UXK2. baseline and differential.
GenevisibleiQ6UXK2. HS.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
3.80.10.10. 1 hit.
InterProiIPR000483. Cys-rich_flank_reg_C.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
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. 5 hits.
SM00082. LRRCT. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
SSF52058. SSF52058. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
PS51450. LRR. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiISLR2_HUMAN
AccessioniPrimary (citable) accession number: Q6UXK2
Secondary accession number(s): A8K352, Q9P263
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: July 5, 2004
Last modified: November 2, 2016
This is version 116 of the entry and version 1 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 15
    Human chromosome 15: 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.