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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: Annotation score: 4 out of 5-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

HGNCiHGNC:23404. LRIT1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 526505LumenalSequence analysisAdd
BLAST
Transmembranei527 – 54721HelicalSequence analysisAdd
BLAST
Topological domaini548 – 62376CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162394331.

Polymorphism and mutation databases

BioMutaiLRIT1.
DMDMi37081671.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Sequence analysisAdd
BLAST
Chaini22 – 623602Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1PRO_0000014835Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi156 – 1561N-linked (GlcNAc...)Sequence analysis
Disulfide bondi275 ↔ 328PROSITE-ProRule annotation
Glycosylationi296 – 2961N-linked (GlcNAc...)Sequence analysis
Glycosylationi455 – 4551N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9P2V4.
PRIDEiQ9P2V4.

PTM databases

iPTMnetiQ9P2V4.
PhosphoSiteiQ9P2V4.

Expressioni

Gene expression databases

BgeeiQ9P2V4.
CleanExiHS_LRIT1.
GenevisibleiQ9P2V4. HS.

Interactioni

Subunit structurei

Homodimer.By similarity

Protein-protein interaction databases

BioGridi117553. 1 interaction.
STRINGi9606.ENSP00000361177.

Structurei

3D structure databases

ProteinModelPortaliQ9P2V4.
SMRiQ9P2V4. Positions 23-332.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini22 – 5938LRRNTAdd
BLAST
Repeati60 – 8122LRR 1Add
BLAST
Repeati84 – 10522LRR 2Add
BLAST
Repeati108 – 12922LRR 3Add
BLAST
Repeati132 – 15322LRR 4Add
BLAST
Repeati156 – 17722LRR 5Add
BLAST
Domaini201 – 25353LRRCTAdd
BLAST
Domaini266 – 33570Ig-like C2-typeAdd
BLAST
Domaini430 – 51889Fibronectin type-IIIPROSITE-ProRule annotationAdd
BLAST
Repeati571 – 59424LRR 6CuratedAdd
BLAST

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.
GeneTreeiENSGT00840000129760.
HOGENOMiHOG000063714.
HOVERGENiHBG108105.
InParanoidiQ9P2V4.
OMAiRRINEYF.
OrthoDBiEOG7SN8C1.
PhylomeDBiQ9P2V4.
TreeFamiTF330861.

Family and domain databases

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti154 – 1541L → M.
Corresponds to variant rs11200933 [ dbSNP | Ensembl ].
VAR_049891
Natural varianti258 – 2581P → Q.
Corresponds to variant rs7090059 [ dbSNP | Ensembl ].
VAR_049892
Natural varianti389 – 3891P → T.
Corresponds to variant rs12262099 [ dbSNP | Ensembl ].
VAR_049893
Natural varianti591 – 5911S → G.
Corresponds to variant rs3814211 [ dbSNP | Ensembl ].
VAR_020081

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.
SMRiQ9P2V4. Positions 23-332.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117553. 1 interaction.
STRINGi9606.ENSP00000361177.

PTM databases

iPTMnetiQ9P2V4.
PhosphoSiteiQ9P2V4.

Polymorphism and mutation databases

BioMutaiLRIT1.
DMDMi37081671.

Proteomic databases

PaxDbiQ9P2V4.
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.
GeneCardsiLRIT1.
HGNCiHGNC:23404. LRIT1.
MIMi616103. gene.
neXtProtiNX_Q9P2V4.
PharmGKBiPA162394331.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
KOG3510. Eukaryota.
ENOG4110XFB. LUCA.
GeneTreeiENSGT00840000129760.
HOGENOMiHOG000063714.
HOVERGENiHBG108105.
InParanoidiQ9P2V4.
OMAiRRINEYF.
OrthoDBiEOG7SN8C1.
PhylomeDBiQ9P2V4.
TreeFamiTF330861.

Miscellaneous databases

GenomeRNAii26103.
NextBioi35537882.
PROiQ9P2V4.
SOURCEiSearch...

Gene expression databases

BgeeiQ9P2V4.
CleanExiHS_LRIT1.
GenevisibleiQ9P2V4. HS.

Family and domain databases

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...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of a novel membrane glycoprotein, Pal, specifically expressed in photoreceptor cells of the retina and containing leucine-rich repeat."
    Gomi F., Imaizumi K., Yoneda T., Taniguchi M., Mori Y., Miyoshi K., Hitomi J., Fujikado T., Tano Y., Tohyama M.
    J. Neurosci. 20:3206-3213(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Retina1 Publication.
  2. "Mapping of transcription start sites of human retina expressed genes."
    Roni V., Carpio R., Wissinger B.
    BMC Genomics 8:42-42(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-10.
    Tissue: Retina.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 303-623.
    Tissue: Testis.

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: May 11, 2016
This is version 135 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.