Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1

Gene

LRIT1

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

Functioni

Possible role in phototransduction.1 Publication

Enzyme and pathway databases

BioCyciZFISH:ENSG00000148602-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1
Alternative name(s):
Leucine-rich repeat-containing protein 21
Photoreceptor-associated LRR superfamily protein
Retina-specific protein PAL
Gene namesi
Name:LRIT1
Synonyms:LRRC21, PAL
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:23404. LRIT1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 526LumenalSequence analysisAdd BLAST505
Transmembranei527 – 547HelicalSequence analysisAdd BLAST21
Topological domaini548 – 623CytoplasmicSequence analysisAdd BLAST76

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi26103.
OpenTargetsiENSG00000148602.
PharmGKBiPA162394331.

Polymorphism and mutation databases

BioMutaiLRIT1.
DMDMi37081671.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000001483522 – 623Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1Add BLAST602

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi156N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi275 ↔ 328PROSITE-ProRule annotation
Glycosylationi296N-linked (GlcNAc...)Sequence analysis1
Glycosylationi455N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9P2V4.
PeptideAtlasiQ9P2V4.
PRIDEiQ9P2V4.

PTM databases

iPTMnetiQ9P2V4.
PhosphoSitePlusiQ9P2V4.

Expressioni

Gene expression databases

BgeeiENSG00000148602.
CleanExiHS_LRIT1.
GenevisibleiQ9P2V4. HS.

Organism-specific databases

HPAiCAB019415.

Interactioni

Subunit structurei

Homodimer.By similarity

Protein-protein interaction databases

BioGridi117553. 1 interactor.
STRINGi9606.ENSP00000361177.

Structurei

3D structure databases

ProteinModelPortaliQ9P2V4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini22 – 59LRRNTAdd BLAST38
Repeati60 – 81LRR 1Add BLAST22
Repeati84 – 105LRR 2Add BLAST22
Repeati108 – 129LRR 3Add BLAST22
Repeati132 – 153LRR 4Add BLAST22
Repeati156 – 177LRR 5Add BLAST22
Domaini201 – 253LRRCTAdd BLAST53
Domaini266 – 335Ig-like C2-typeAdd BLAST70
Domaini430 – 518Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST89
Repeati571 – 594LRR 6CuratedAdd BLAST24

Sequence similaritiesi

Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation
Contains 6 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.
KOG3510. Eukaryota.
ENOG4110XFB. LUCA.
GeneTreeiENSGT00850000132257.
HOGENOMiHOG000063714.
HOVERGENiHBG108105.
InParanoidiQ9P2V4.
OMAiRRINEYF.
OrthoDBiEOG091G0BQ8.
PhylomeDBiQ9P2V4.
TreeFamiTF330861.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 2 hits.
3.80.10.10. 1 hit.
InterProiIPR000483. Cys-rich_flank_reg_C.
IPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF00041. fn3. 1 hit.
PF07679. I-set. 1 hit.
PF13855. LRR_8. 2 hits.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
SM00408. IGc2. 1 hit.
SM00369. LRR_TYP. 4 hits.
SM00082. LRRCT. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF49265. SSF49265. 1 hit.
SSF52058. SSF52058. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
PS50835. IG_LIKE. 1 hit.
PS51450. LRR. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9P2V4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRVALGMLWL LALAWPPQAR GFCPSQCSCS LHIMGDGSKA RTVVCNDPDM
60 70 80 90 100
TLPPASIPPD TSRLRLERTA IRRVPGEAFR PLGRLEQLWL PYNALSELNA
110 120 130 140 150
LMLRGLRRLR ELRLPGNRLA AFPWAALRDA PKLRLLDLQA NRLSAVPAEA
160 170 180 190 200
ARFLENLTFL DLSSNQLMRL PQELIVSWAH LETGIFPPGH HPRRVLGLQD
210 220 230 240 250
NPWACDCRLY DLVHLLDGWA PNLAFIETEL RCASPRSLAG VAFSQLELRK
260 270 280 290 300
CQGPELHPGV ASIRSLLGGT ALLRCGATGV PGPEMSWRRA NGRPLNGTVH
310 320 330 340 350
QEVSSDGTSW TLLGLPAVSH LDSGDYICQA KNFLGASETV ISLIVTEPPT
360 370 380 390 400
STEHSGSPGA LWARTGGGGE AAAYNNKLVA RHVPQIPKPA VLATGPSVPS
410 420 430 440 450
TKEELTLEHF QMDALGELSD GRAGPSEARM VRSVKVVGDT YHSVSLVWKA
460 470 480 490 500
PQAKNTTAFS VLYAVFGQHS MRRVIVQPGK TRVTITGLLP KTKYVACVCV
510 520 530 540 550
QGLVPRKEQC VIFSTNEVVD AENTQQLINV VVISVAIVIA LPLTLLVCCS
560 570 580 590 600
ALQKRCRKCF NKDSTEATVT YVNLERLGYS EDGLEELSRH SVSEADRLLS
610 620
ARSSVDFQAF GVKGGRRINE YFC
Length:623
Mass (Da):68,041
Last modified:October 1, 2000 - v1
Checksum:i1B5921E7DD4C0523
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049891154L → M.Corresponds to variant rs11200933dbSNPEnsembl.1
Natural variantiVAR_049892258P → Q.Corresponds to variant rs7090059dbSNPEnsembl.1
Natural variantiVAR_049893389P → T.Corresponds to variant rs12262099dbSNPEnsembl.1
Natural variantiVAR_020081591S → G.Corresponds to variant rs3814211dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB031547 mRNA. Translation: BAA95681.1.
DQ426882 mRNA. Translation: ABD90541.1.
AL080175 mRNA. Translation: CAB45761.1.
CCDSiCCDS7373.1.
PIRiT12497.
RefSeqiNP_056428.1. NM_015613.2.
UniGeneiHs.226000.

Genome annotation databases

EnsembliENST00000372105; ENSP00000361177; ENSG00000148602.
GeneIDi26103.
KEGGihsa:26103.
UCSCiuc001kcz.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB031547 mRNA. Translation: BAA95681.1.
DQ426882 mRNA. Translation: ABD90541.1.
AL080175 mRNA. Translation: CAB45761.1.
CCDSiCCDS7373.1.
PIRiT12497.
RefSeqiNP_056428.1. NM_015613.2.
UniGeneiHs.226000.

3D structure databases

ProteinModelPortaliQ9P2V4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117553. 1 interactor.
STRINGi9606.ENSP00000361177.

PTM databases

iPTMnetiQ9P2V4.
PhosphoSitePlusiQ9P2V4.

Polymorphism and mutation databases

BioMutaiLRIT1.
DMDMi37081671.

Proteomic databases

PaxDbiQ9P2V4.
PeptideAtlasiQ9P2V4.
PRIDEiQ9P2V4.

Protocols and materials databases

DNASUi26103.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372105; ENSP00000361177; ENSG00000148602.
GeneIDi26103.
KEGGihsa:26103.
UCSCiuc001kcz.2. human.

Organism-specific databases

CTDi26103.
DisGeNETi26103.
GeneCardsiLRIT1.
HGNCiHGNC:23404. LRIT1.
HPAiCAB019415.
MIMi616103. gene.
neXtProtiNX_Q9P2V4.
OpenTargetsiENSG00000148602.
PharmGKBiPA162394331.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
KOG3510. Eukaryota.
ENOG4110XFB. LUCA.
GeneTreeiENSGT00850000132257.
HOGENOMiHOG000063714.
HOVERGENiHBG108105.
InParanoidiQ9P2V4.
OMAiRRINEYF.
OrthoDBiEOG091G0BQ8.
PhylomeDBiQ9P2V4.
TreeFamiTF330861.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000148602-MONOMER.

Miscellaneous databases

GenomeRNAii26103.
PROiQ9P2V4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148602.
CleanExiHS_LRIT1.
GenevisibleiQ9P2V4. HS.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 2 hits.
3.80.10.10. 1 hit.
InterProiIPR000483. Cys-rich_flank_reg_C.
IPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF00041. fn3. 1 hit.
PF07679. I-set. 1 hit.
PF13855. LRR_8. 2 hits.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
SM00408. IGc2. 1 hit.
SM00369. LRR_TYP. 4 hits.
SM00082. LRRCT. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF49265. SSF49265. 1 hit.
SSF52058. SSF52058. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
PS50835. IG_LIKE. 1 hit.
PS51450. LRR. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLRIT1_HUMAN
AccessioniPrimary (citable) accession number: Q9P2V4
Secondary accession number(s): Q0QD41, Q9Y4N7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: October 1, 2000
Last modified: November 30, 2016
This is version 141 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 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
  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.