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Protein

Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2

Gene

LRIT2

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

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2
Alternative name(s):
Leucine-rich repeat-containing protein 22
Gene namesi
Name:LRIT2
Synonyms:LRRC22
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:23443. LRIT2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei466 – 486HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi340745.
OpenTargetsiENSG00000204033.
PharmGKBiPA162394344.

Polymorphism and mutation databases

BioMutaiLRIT2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000030934420 – 550Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2Add BLAST531

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi52N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi274 ↔ 327PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiA6NDA9.
PaxDbiA6NDA9.
PRIDEiA6NDA9.

PTM databases

iPTMnetiA6NDA9.
PhosphoSitePlusiA6NDA9.

Expressioni

Gene expression databases

BgeeiENSG00000204033.
CleanExiHS_LRIT2.

Organism-specific databases

HPAiHPA037788.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000361185.

Structurei

3D structure databases

ProteinModelPortaliA6NDA9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini23 – 54LRRNTAdd BLAST32
Repeati80 – 103LRR 1Add BLAST24
Repeati104 – 125LRR 2Add BLAST22
Repeati128 – 149LRR 3Add BLAST22
Repeati152 – 173LRR 4Add BLAST22
Domaini200 – 252LRRCTAdd BLAST53
Domaini253 – 341Ig-likeAdd BLAST89
Domaini361 – 451Fibronectin type-IIIAdd BLAST91

Keywords - Domaini

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

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00880000137863.
HOGENOMiHOG000082676.
HOVERGENiHBG060406.
InParanoidiA6NDA9.
OMAiFLNWPAY.
OrthoDBiEOG091G06EG.
PhylomeDBiA6NDA9.
TreeFamiTF330861.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 2 hits.
3.80.10.10. 2 hits.
InterProiView protein in InterPro
IPR000483. Cys-rich_flank_reg_C.
IPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR020901. Prtase_inh_Kunz-CS.
PfamiView protein in Pfam
PF13855. LRR_8. 1 hit.
SMARTiView protein in SMART
SM00409. IG. 1 hit.
SM00408. IGc2. 1 hit.
SM00369. LRR_TYP. 4 hits.
SM00082. LRRCT. 1 hit.
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF52058. SSF52058. 1 hit.
PROSITEiView protein in PROSITE
PS50835. IG_LIKE. 1 hit.
PS51450. LRR. 4 hits.

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A6NDA9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASVFHYFLL VLVFLDTHAA QPFCLPGCTC SEESFGRTLQ CTSVSLGKIP
60 70 80 90 100
GNLSEEFKQV RIENSPLFEM PQGSFINMST LEYLWLNFNN ISVIHLGALE
110 120 130 140 150
HLPELRELRL EGNKLCSVPW TAFRATPLLR VLDLKRNKID ALPELALQFL
160 170 180 190 200
VSLTYLDLSS NRLTVVSKSV FLNWPAYQKC RQPDCGAEIL SSLVVALHDN
210 220 230 240 250
PWVCDCRLRG LVQFVKSITL PVILVNSYLI CQGPLSKAGQ LFHETELSAC
260 270 280 290 300
MKPQISTPSA NITIRAGQNV TLRCLAQASP SPSIAWTYPL SMWREFDVLT
310 320 330 340 350
SSTGEDTALS ELAIPAAHLV DSGNYTCMAS NSIGKSNLVI SLHVQPAQAL
360 370 380 390 400
HAPDSLSIPS EGNAYIDLRV VKQTVHGILL EWLAVADTSK EEWFTLYIAS
410 420 430 440 450
DEAFRKEVVH IGPGINTYAV DDLLPGTKYE ACLSLEGQPP HQGQCVAFVT
460 470 480 490 500
GRDAGGLEAR EHLLHVTVVL CVVLLAVPVG AYAWAAQGPC SCSKWVLRGC
510 520 530 540 550
LHRRKAPSCT PAAPQSKDGS FREHPAVCDD GEGHIDTEGD KEKGGTEDNS
Length:550
Mass (Da):60,168
Last modified:July 24, 2007 - v1
Checksum:iF9891BB309EDD630
GO
Isoform 2 (identifier: A6NDA9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     297-297: D → DGLLGGKHLTP

Note: No experimental confirmation available.
Show »
Length:560
Mass (Da):61,142
Checksum:i007156D0DA7A8ED9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03693528C → Y. Corresponds to variant dbSNP:rs12773843Ensembl.1
Natural variantiVAR_036936179K → N. Corresponds to variant dbSNP:rs11200927Ensembl.1
Natural variantiVAR_036937220L → F. Corresponds to variant dbSNP:rs11200925Ensembl.1
Natural variantiVAR_036938496V → A. Corresponds to variant dbSNP:rs12217769Ensembl.1
Natural variantiVAR_036939510T → P. Corresponds to variant dbSNP:rs6585847Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_054539297D → DGLLGGKHLTP in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX648524 mRNA. No translation available.
AC022389 Genomic DNA. No translation available.
BC140765 mRNA. Translation: AAI40766.1.
BC144475 mRNA. Translation: AAI44476.1.
CCDSiCCDS31234.1. [A6NDA9-1]
CCDS60581.1. [A6NDA9-2]
RefSeqiNP_001017924.1. NM_001017924.3. [A6NDA9-1]
NP_001271152.1. NM_001284223.1. [A6NDA9-2]
UniGeneiHs.450425.

Genome annotation databases

EnsembliENST00000372113; ENSP00000361185; ENSG00000204033. [A6NDA9-1]
ENST00000538192; ENSP00000438264; ENSG00000204033. [A6NDA9-2]
GeneIDi340745.
KEGGihsa:340745.
UCSCiuc001kcy.5. human. [A6NDA9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLRIT2_HUMAN
AccessioniPrimary (citable) accession number: A6NDA9
Secondary accession number(s): B7ZME6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: July 24, 2007
Last modified: June 7, 2017
This is version 98 of the entry and version 1 of the sequence. See 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 10
    Human chromosome 10: 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