UniProtKB - Q9P2V4 (LRIT1_HUMAN)
Protein
Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1
Gene
LRIT1
Organism
Homo sapiens (Human)
Status
Functioni
Possible role in phototransduction.1 Publication
Enzyme and pathway databases
PathwayCommonsi | Q9P2V4 |
Names & Taxonomyi
Protein namesi | Recommended name: Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1Alternative name(s): Leucine-rich repeat-containing protein 21 Photoreceptor-associated LRR superfamily protein Retina-specific protein PAL |
Gene namesi | Name:LRIT1 Synonyms:LRRC21, PAL |
Organismi | Homo sapiens (Human)Imported |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000148602.5 |
HGNCi | HGNC:23404, LRIT1 |
MIMi | 616103, gene |
neXtProti | NX_Q9P2V4 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Single-pass type I membrane protein By similarity
Endoplasmic reticulum
- integral component of endoplasmic reticulum membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 22 – 526 | LumenalSequence analysisAdd BLAST | 505 | |
Transmembranei | 527 – 547 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 548 – 623 | CytoplasmicSequence analysisAdd BLAST | 76 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 26103 |
PharmGKBi | PA162394331 |
Miscellaneous databases
Pharosi | Q9P2V4, Tbio |
Polymorphism and mutation databases
BioMutai | LRIT1 |
DMDMi | 37081671 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | Sequence analysisAdd BLAST | 21 | |
ChainiPRO_0000014835 | 22 – 623 | Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1Add BLAST | 602 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 156 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 275 ↔ 328 | PROSITE-ProRule annotation | ||
Glycosylationi | 296 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 455 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MassIVEi | Q9P2V4 |
PaxDbi | Q9P2V4 |
PeptideAtlasi | Q9P2V4 |
PRIDEi | Q9P2V4 |
ProteomicsDBi | 83900 |
PTM databases
GlyGeni | Q9P2V4, 3 sites |
iPTMneti | Q9P2V4 |
PhosphoSitePlusi | Q9P2V4 |
Expressioni
Gene expression databases
Bgeei | ENSG00000148602, Expressed in testis and 11 other tissues |
Genevisiblei | Q9P2V4, HS |
Organism-specific databases
HPAi | ENSG00000148602, Group enriched (retina, testis) |
Interactioni
Subunit structurei
Homodimer.
By similarityProtein-protein interaction databases
BioGRIDi | 117553, 1 interactor |
STRINGi | 9606.ENSP00000361177 |
Miscellaneous databases
RNActi | Q9P2V4, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 22 – 59 | LRRNTAdd BLAST | 38 | |
Repeati | 60 – 81 | LRR 1Add BLAST | 22 | |
Repeati | 84 – 105 | LRR 2Add BLAST | 22 | |
Repeati | 108 – 129 | LRR 3Add BLAST | 22 | |
Repeati | 132 – 153 | LRR 4Add BLAST | 22 | |
Repeati | 156 – 177 | LRR 5Add BLAST | 22 | |
Domaini | 201 – 253 | LRRCTAdd BLAST | 53 | |
Domaini | 266 – 335 | Ig-like C2-typeAdd BLAST | 70 | |
Domaini | 430 – 518 | Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST | 89 | |
Repeati | 571 – 594 | LRR 6CuratedAdd BLAST | 24 |
Keywords - Domaini
Immunoglobulin domain, Leucine-rich repeat, Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0619, Eukaryota KOG3510, Eukaryota |
GeneTreei | ENSGT00940000156033 |
HOGENOMi | CLU_019650_0_0_1 |
InParanoidi | Q9P2V4 |
OMAi | RKEQCII |
OrthoDBi | 316687at2759 |
PhylomeDBi | Q9P2V4 |
TreeFami | TF330861 |
Family and domain databases
CDDi | cd00063, FN3, 1 hit |
Gene3Di | 2.60.40.10, 2 hits 3.80.10.10, 1 hit |
InterProi | View protein in InterPro IPR000483, Cys-rich_flank_reg_C IPR003961, FN3_dom IPR036116, FN3_sf IPR007110, Ig-like_dom IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR013098, Ig_I-set IPR003599, Ig_sub IPR003598, Ig_sub2 IPR001611, Leu-rich_rpt IPR003591, Leu-rich_rpt_typical-subtyp IPR032675, LRR_dom_sf |
Pfami | View protein in Pfam PF00041, fn3, 1 hit PF07679, I-set, 1 hit PF13855, LRR_8, 2 hits |
SMARTi | View protein in SMART SM00409, IG, 1 hit SM00408, IGc2, 1 hit SM00369, LRR_TYP, 4 hits SM00082, LRRCT, 1 hit |
SUPFAMi | SSF48726, SSF48726, 1 hit SSF49265, SSF49265, 1 hit |
PROSITEi | View protein in PROSITE PS50853, FN3, 1 hit PS50835, IG_LIKE, 1 hit PS51450, LRR, 3 hits |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q9P2V4-1 [UniParc]FASTAAdd to basket
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049891 | 154 | L → M. Corresponds to variant dbSNP:rs11200933Ensembl. | 1 | |
Natural variantiVAR_049892 | 258 | P → Q. Corresponds to variant dbSNP:rs7090059Ensembl. | 1 | |
Natural variantiVAR_049893 | 389 | P → T. Corresponds to variant dbSNP:rs12262099Ensembl. | 1 | |
Natural variantiVAR_020081 | 591 | S → G. Corresponds to variant dbSNP:rs3814211Ensembl. | 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 |
CCDSi | CCDS7373.1 |
PIRi | T12497 |
RefSeqi | NP_056428.1, NM_015613.2 |
Genome annotation databases
Ensembli | ENST00000372105; ENSP00000361177; ENSG00000148602 |
GeneIDi | 26103 |
KEGGi | hsa:26103 |
UCSCi | uc001kcz.2, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS7373.1 |
PIRi | T12497 |
RefSeqi | NP_056428.1, NM_015613.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 117553, 1 interactor |
STRINGi | 9606.ENSP00000361177 |
PTM databases
GlyGeni | Q9P2V4, 3 sites |
iPTMneti | Q9P2V4 |
PhosphoSitePlusi | Q9P2V4 |
Polymorphism and mutation databases
BioMutai | LRIT1 |
DMDMi | 37081671 |
Proteomic databases
MassIVEi | Q9P2V4 |
PaxDbi | Q9P2V4 |
PeptideAtlasi | Q9P2V4 |
PRIDEi | Q9P2V4 |
ProteomicsDBi | 83900 |
Protocols and materials databases
Antibodypediai | 48882, 61 antibodies |
DNASUi | 26103 |
Genome annotation databases
Ensembli | ENST00000372105; ENSP00000361177; ENSG00000148602 |
GeneIDi | 26103 |
KEGGi | hsa:26103 |
UCSCi | uc001kcz.2, human |
Organism-specific databases
CTDi | 26103 |
DisGeNETi | 26103 |
EuPathDBi | HostDB:ENSG00000148602.5 |
GeneCardsi | LRIT1 |
HGNCi | HGNC:23404, LRIT1 |
HPAi | ENSG00000148602, Group enriched (retina, testis) |
MIMi | 616103, gene |
neXtProti | NX_Q9P2V4 |
PharmGKBi | PA162394331 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0619, Eukaryota KOG3510, Eukaryota |
GeneTreei | ENSGT00940000156033 |
HOGENOMi | CLU_019650_0_0_1 |
InParanoidi | Q9P2V4 |
OMAi | RKEQCII |
OrthoDBi | 316687at2759 |
PhylomeDBi | Q9P2V4 |
TreeFami | TF330861 |
Enzyme and pathway databases
PathwayCommonsi | Q9P2V4 |
Miscellaneous databases
BioGRID-ORCSi | 26103, 4 hits in 841 CRISPR screens |
GenomeRNAii | 26103 |
Pharosi | Q9P2V4, Tbio |
PROi | PR:Q9P2V4 |
RNActi | Q9P2V4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000148602, Expressed in testis and 11 other tissues |
Genevisiblei | Q9P2V4, HS |
Family and domain databases
CDDi | cd00063, FN3, 1 hit |
Gene3Di | 2.60.40.10, 2 hits 3.80.10.10, 1 hit |
InterProi | View protein in InterPro IPR000483, Cys-rich_flank_reg_C IPR003961, FN3_dom IPR036116, FN3_sf IPR007110, Ig-like_dom IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR013098, Ig_I-set IPR003599, Ig_sub IPR003598, Ig_sub2 IPR001611, Leu-rich_rpt IPR003591, Leu-rich_rpt_typical-subtyp IPR032675, LRR_dom_sf |
Pfami | View protein in Pfam PF00041, fn3, 1 hit PF07679, I-set, 1 hit PF13855, LRR_8, 2 hits |
SMARTi | View protein in SMART SM00409, IG, 1 hit SM00408, IGc2, 1 hit SM00369, LRR_TYP, 4 hits SM00082, LRRCT, 1 hit |
SUPFAMi | SSF48726, SSF48726, 1 hit SSF49265, SSF49265, 1 hit |
PROSITEi | View protein in PROSITE PS50853, FN3, 1 hit PS50835, IG_LIKE, 1 hit PS51450, LRR, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LRIT1_HUMAN | |
Accessioni | Q9P2V4Primary (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: | December 2, 2020 | |
This is version 171 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations