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Q6UXK2

- ISLR2_HUMAN

UniProt

Q6UXK2 - ISLR2_HUMAN

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Protein

Immunoglobulin superfamily containing leucine-rich repeat protein 2

Gene

ISLR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

Required for axon extension during neural development.By similarity

GO - Biological processi

  1. positive regulation of axon extension Source: UniProtKB
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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:29286. ISLR2.

Subcellular locationi

Cell membrane By similarity; Single-pass membrane protein By similarity

GO - Cellular componenti

  1. cell surface Source: UniProtKB
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485505.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence AnalysisAdd
BLAST
Chaini19 – 745727Immunoglobulin superfamily containing leucine-rich repeat protein 2PRO_0000317498Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi52 – 521N-linked (GlcNAc...)Sequence Analysis
Glycosylationi121 – 1211N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi260 ↔ 355PROSITE-ProRule annotation
Glycosylationi337 – 3371N-linked (GlcNAc...)Sequence Analysis
Glycosylationi364 – 3641N-linked (GlcNAc...)Sequence Analysis
Glycosylationi474 – 4741N-linked (GlcNAc...)Sequence Analysis
Glycosylationi563 – 5631N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ6UXK2.
PRIDEiQ6UXK2.

PTM databases

PhosphoSiteiQ6UXK2.

Expressioni

Gene expression databases

BgeeiQ6UXK2.
CleanExiHS_ISLR2.
ExpressionAtlasiQ6UXK2. baseline.
GenevestigatoriQ6UXK2.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

IntActiQ6UXK2. 1 interaction.
MINTiMINT-6598539.
STRINGi9606.ENSP00000354217.

Structurei

3D structure databases

ProteinModelPortaliQ6UXK2.
SMRiQ6UXK2. Positions 20-372.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 589571ExtracellularSequence AnalysisAdd
BLAST
Topological domaini611 – 745135CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei590 – 61021HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini19 – 5133LRRNTAdd
BLAST
Repeati52 – 7322LRR 1Add
BLAST
Repeati76 – 9722LRR 2Add
BLAST
Repeati100 – 12324LRR 3Add
BLAST
Repeati124 – 14522LRR 4Add
BLAST
Repeati148 – 16922LRR 5Add
BLAST
Domaini181 – 23252LRRCTAdd
BLAST
Domaini233 – 371139Ig-likeAdd
BLAST

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

eggNOGiNOG240332.
GeneTreeiENSGT00760000119250.
HOGENOMiHOG000113108.
HOVERGENiHBG100863.
InParanoidiQ6UXK2.
OMAiPRLQWQL.
OrthoDBiEOG71K62H.
PhylomeDBiQ6UXK2.
TreeFamiTF351112.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR000483. Cys-rich_flank_reg_C.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view]
PfamiPF13855. LRR_8. 2 hits.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
SM00369. LRR_TYP. 1 hit.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view]
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 BAA95989.2 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti19 – 191S → P in BAF83156. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371S → F.
Corresponds to variant rs3889598 [ dbSNP | Ensembl ].
VAR_049881

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
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.

Polymorphism databases

DMDMi74758577.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB040898 mRNA. Translation: BAA95989.2 . Different initiation.
AY358316 mRNA. Translation: AAQ88682.1 .
AK290467 mRNA. Translation: BAF83156.1 .
CCDSi CCDS10259.1.
RefSeqi NP_001123608.1. NM_001130136.1.
NP_001123609.1. NM_001130137.1.
NP_001123610.1. NM_001130138.1.
NP_065902.1. NM_020851.2.
UniGenei Hs.254775.

3D structure databases

ProteinModelPortali Q6UXK2.
SMRi Q6UXK2. Positions 20-372.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q6UXK2. 1 interaction.
MINTi MINT-6598539.
STRINGi 9606.ENSP00000354217.

PTM databases

PhosphoSitei Q6UXK2.

Polymorphism databases

DMDMi 74758577.

Proteomic databases

PaxDbi Q6UXK2.
PRIDEi Q6UXK2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361742 ; ENSP00000355402 ; ENSG00000167178 .
ENST00000435464 ; ENSP00000411443 ; ENSG00000167178 .
ENST00000453268 ; ENSP00000411834 ; ENSG00000167178 .
ENST00000565159 ; ENSP00000455531 ; ENSG00000167178 .
ENST00000565540 ; ENSP00000458080 ; ENSG00000167178 .
GeneIDi 57611.
KEGGi hsa:57611.
UCSCi uc002axd.3. human.

Organism-specific databases

CTDi 57611.
GeneCardsi GC15P074392.
HGNCi HGNC:29286. ISLR2.
MIMi 614179. gene.
neXtProti NX_Q6UXK2.
PharmGKBi PA143485505.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG240332.
GeneTreei ENSGT00760000119250.
HOGENOMi HOG000113108.
HOVERGENi HBG100863.
InParanoidi Q6UXK2.
OMAi PRLQWQL.
OrthoDBi EOG71K62H.
PhylomeDBi Q6UXK2.
TreeFami TF351112.

Miscellaneous databases

GenomeRNAii 57611.
NextBioi 64263.
PROi Q6UXK2.
SOURCEi Search...

Gene expression databases

Bgeei Q6UXK2.
CleanExi HS_ISLR2.
ExpressionAtlasi Q6UXK2. baseline.
Genevestigatori Q6UXK2.

Family and domain databases

Gene3Di 2.60.40.10. 2 hits.
InterProi IPR000483. Cys-rich_flank_reg_C.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view ]
Pfami PF13855. LRR_8. 2 hits.
[Graphical view ]
SMARTi SM00409. IG. 1 hit.
SM00369. LRR_TYP. 1 hit.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view ]
PROSITEi PS50835. IG_LIKE. 1 hit.
PS51450. LRR. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
    DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  2. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.

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: October 29, 2014
This is version 98 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

External Data

Dasty 3