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Protein

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

Gene

LRIT1

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

Functioni

Possible role in phototransduction.1 Publication

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

EuPathDBiHostDB:ENSG00000148602.5
HGNCiHGNC:23404 LRIT1
MIMi616103 gene
neXtProtiNX_Q9P2V4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi26103
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...) asparagineSequence analysis1
Disulfide bondi275 ↔ 328PROSITE-ProRule annotation
Glycosylationi296N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi455N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9P2V4
PeptideAtlasiQ9P2V4
PRIDEiQ9P2V4

PTM databases

iPTMnetiQ9P2V4
PhosphoSitePlusiQ9P2V4

Expressioni

Gene expression databases

BgeeiENSG00000148602
CleanExiHS_LRIT1
GenevisibleiQ9P2V4 HS

Interactioni

Subunit structurei

Homodimer.By similarity

Protein-protein interaction databases

BioGridi117553, 1 interactor
STRINGi9606.ENSP00000361177

Structurei

3D structure databases

ProteinModelPortaliQ9P2V4
SMRiQ9P2V4
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

Keywords - Domaini

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

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
KOG3510 Eukaryota
ENOG4110XFB LUCA
GeneTreeiENSGT00880000137863
HOGENOMiHOG000063714
HOVERGENiHBG108105
InParanoidiQ9P2V4
OMAiWLPYNAL
OrthoDBiEOG091G0BQ8
PhylomeDBiQ9P2V4
TreeFamiTF330861

Family and domain databases

CDDicd00063 FN3, 1 hit
Gene3Di2.60.40.10, 2 hits
3.80.10.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF00041 fn3, 1 hit
PF07679 I-set, 1 hit
PF13855 LRR_8, 2 hits
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
SSF49265 SSF49265, 1 hit
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit
PS50835 IG_LIKE, 1 hit
PS51450 LRR, 3 hits

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 dbSNP:rs11200933Ensembl.1
Natural variantiVAR_049892258P → Q. Corresponds to variant dbSNP:rs7090059Ensembl.1
Natural variantiVAR_049893389P → T. Corresponds to variant dbSNP:rs12262099Ensembl.1
Natural variantiVAR_020081591S → 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
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

Similar proteinsi

Entry informationi

Entry nameiLRIT1_HUMAN
AccessioniPrimary (citable) accession number: Q9P2V4
Secondary accession number(s): Q0QD41, Q9Y4N7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: October 1, 2000
Last modified: May 23, 2018
This is version 152 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
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Main funding by: National Institutes of Health