LRIT1_HUMAN
ID LRIT1_HUMAN Reviewed; 623 AA.
AC Q9P2V4; Q0QD41; Q9Y4N7;
DT 26-SEP-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 177.
DE RecName: Full=Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1;
DE AltName: Full=Leucine-rich repeat-containing protein 21;
DE AltName: Full=Photoreceptor-associated LRR superfamily protein;
DE AltName: Full=Retina-specific protein PAL;
DE Flags: Precursor;
GN Name=LRIT1; Synonyms=LRRC21, PAL;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606 {ECO:0000312|EMBL:BAA95681.1};
RN [1] {ECO:0000312|EMBL:BAA95681.1}
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Retina {ECO:0000269|PubMed:10777785};
RX PubMed=10777785; DOI=10.1523/jneurosci.20-09-03206.2000;
RA Gomi F., Imaizumi K., Yoneda T., Taniguchi M., Mori Y., Miyoshi K.,
RA Hitomi J., Fujikado T., Tano Y., Tohyama M.;
RT "Molecular cloning of a novel membrane glycoprotein, Pal, specifically
RT expressed in photoreceptor cells of the retina and containing leucine-rich
RT repeat.";
RL J. Neurosci. 20:3206-3213(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-10.
RC TISSUE=Retina;
RX PubMed=17286855; DOI=10.1186/1471-2164-8-42;
RA Roni V., Carpio R., Wissinger B.;
RT "Mapping of transcription start sites of human retina expressed genes.";
RL BMC Genomics 8:42-42(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 303-623.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- FUNCTION: Possible role in phototransduction.
CC {ECO:0000303|PubMed:10777785}.
CC -!- SUBUNIT: Homodimer. {ECO:0000250|UniProtKB:Q9JMH2}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000250|UniProtKB:Q9JMH2}; Single-pass type I membrane protein
CC {ECO:0000250}.
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DR EMBL; AB031547; BAA95681.1; -; mRNA.
DR EMBL; DQ426882; ABD90541.1; -; mRNA.
DR EMBL; AL080175; CAB45761.1; -; mRNA.
DR CCDS; CCDS7373.1; -.
DR PIR; T12497; T12497.
DR RefSeq; NP_056428.1; NM_015613.2.
DR AlphaFoldDB; Q9P2V4; -.
DR SMR; Q9P2V4; -.
DR BioGRID; 117553; 1.
DR STRING; 9606.ENSP00000361177; -.
DR GlyGen; Q9P2V4; 3 sites.
DR iPTMnet; Q9P2V4; -.
DR PhosphoSitePlus; Q9P2V4; -.
DR BioMuta; LRIT1; -.
DR DMDM; 37081671; -.
DR MassIVE; Q9P2V4; -.
DR PaxDb; Q9P2V4; -.
DR PeptideAtlas; Q9P2V4; -.
DR PRIDE; Q9P2V4; -.
DR ProteomicsDB; 83900; -.
DR Antibodypedia; 48882; 67 antibodies from 13 providers.
DR DNASU; 26103; -.
DR Ensembl; ENST00000372105.4; ENSP00000361177.3; ENSG00000148602.6.
DR GeneID; 26103; -.
DR KEGG; hsa:26103; -.
DR MANE-Select; ENST00000372105.4; ENSP00000361177.3; NM_015613.3; NP_056428.1.
DR UCSC; uc001kcz.2; human.
DR CTD; 26103; -.
DR DisGeNET; 26103; -.
DR GeneCards; LRIT1; -.
DR HGNC; HGNC:23404; LRIT1.
DR HPA; ENSG00000148602; Tissue enriched (retina).
DR MIM; 616103; gene.
DR neXtProt; NX_Q9P2V4; -.
DR PharmGKB; PA162394331; -.
DR VEuPathDB; HostDB:ENSG00000148602; -.
DR eggNOG; KOG0619; Eukaryota.
DR eggNOG; KOG3510; Eukaryota.
DR GeneTree; ENSGT00940000156033; -.
DR HOGENOM; CLU_019650_0_0_1; -.
DR InParanoid; Q9P2V4; -.
DR OMA; RKEQCII; -.
DR OrthoDB; 316687at2759; -.
DR PhylomeDB; Q9P2V4; -.
DR TreeFam; TF330861; -.
DR PathwayCommons; Q9P2V4; -.
DR BioGRID-ORCS; 26103; 10 hits in 1065 CRISPR screens.
DR GenomeRNAi; 26103; -.
DR Pharos; Q9P2V4; Tdark.
DR PRO; PR:Q9P2V4; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9P2V4; protein.
DR Bgee; ENSG00000148602; Expressed in left testis and 2 other tissues.
DR Genevisible; Q9P2V4; HS.
DR GO; GO:0030176; C:integral component of endoplasmic reticulum membrane; ISS:UniProtKB.
DR CDD; cd00063; FN3; 1.
DR Gene3D; 2.60.40.10; -; 2.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR000483; Cys-rich_flank_reg_C.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR013098; Ig_I-set.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF00041; fn3; 1.
DR Pfam; PF07679; I-set; 1.
DR Pfam; PF13855; LRR_8; 2.
DR SMART; SM00409; IG; 1.
DR SMART; SM00408; IGc2; 1.
DR SMART; SM00369; LRR_TYP; 4.
DR SMART; SM00082; LRRCT; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
DR SUPFAM; SSF49265; SSF49265; 1.
DR PROSITE; PS50853; FN3; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
DR PROSITE; PS51450; LRR; 3.
PE 2: Evidence at transcript level;
KW Disulfide bond; Endoplasmic reticulum; Glycoprotein; Immunoglobulin domain;
KW Leucine-rich repeat; Membrane; Reference proteome; Repeat; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..21
FT /evidence="ECO:0000255"
FT CHAIN 22..623
FT /note="Leucine-rich repeat, immunoglobulin-like domain and
FT transmembrane domain-containing protein 1"
FT /id="PRO_0000014835"
FT TOPO_DOM 22..526
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 527..547
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 548..623
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 22..59
FT /note="LRRNT"
FT REPEAT 60..81
FT /note="LRR 1"
FT REPEAT 84..105
FT /note="LRR 2"
FT REPEAT 108..129
FT /note="LRR 3"
FT REPEAT 132..153
FT /note="LRR 4"
FT REPEAT 156..177
FT /note="LRR 5"
FT DOMAIN 201..253
FT /note="LRRCT"
FT DOMAIN 266..335
FT /note="Ig-like C2-type"
FT DOMAIN 430..518
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT REPEAT 571..594
FT /note="LRR 6"
FT /evidence="ECO:0000305"
FT CARBOHYD 156
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 296
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 455
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 275..328
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VARIANT 154
FT /note="L -> M (in dbSNP:rs11200933)"
FT /id="VAR_049891"
FT VARIANT 258
FT /note="P -> Q (in dbSNP:rs7090059)"
FT /id="VAR_049892"
FT VARIANT 389
FT /note="P -> T (in dbSNP:rs12262099)"
FT /id="VAR_049893"
FT VARIANT 591
FT /note="S -> G (in dbSNP:rs3814211)"
FT /id="VAR_020081"
SQ SEQUENCE 623 AA; 68041 MW; 1B5921E7DD4C0523 CRC64;
MRVALGMLWL LALAWPPQAR GFCPSQCSCS LHIMGDGSKA RTVVCNDPDM TLPPASIPPD
TSRLRLERTA IRRVPGEAFR PLGRLEQLWL PYNALSELNA LMLRGLRRLR ELRLPGNRLA
AFPWAALRDA PKLRLLDLQA NRLSAVPAEA ARFLENLTFL DLSSNQLMRL PQELIVSWAH
LETGIFPPGH HPRRVLGLQD NPWACDCRLY DLVHLLDGWA PNLAFIETEL RCASPRSLAG
VAFSQLELRK CQGPELHPGV ASIRSLLGGT ALLRCGATGV PGPEMSWRRA NGRPLNGTVH
QEVSSDGTSW TLLGLPAVSH LDSGDYICQA KNFLGASETV ISLIVTEPPT STEHSGSPGA
LWARTGGGGE AAAYNNKLVA RHVPQIPKPA VLATGPSVPS TKEELTLEHF QMDALGELSD
GRAGPSEARM VRSVKVVGDT YHSVSLVWKA PQAKNTTAFS VLYAVFGQHS MRRVIVQPGK
TRVTITGLLP KTKYVACVCV QGLVPRKEQC VIFSTNEVVD AENTQQLINV VVISVAIVIA
LPLTLLVCCS ALQKRCRKCF NKDSTEATVT YVNLERLGYS EDGLEELSRH SVSEADRLLS
ARSSVDFQAF GVKGGRRINE YFC
