LRIT2_HUMAN
ID LRIT2_HUMAN Reviewed; 550 AA.
AC A6NDA9; B7ZME6;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2;
DE AltName: Full=Leucine-rich repeat-containing protein 22;
DE Flags: Precursor;
GN Name=LRIT2; Synonyms=LRRC22;
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;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Retina;
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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A6NDA9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A6NDA9-2; Sequence=VSP_054539;
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DR EMBL; BX648524; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC022389; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC140765; AAI40766.1; -; mRNA.
DR EMBL; BC144475; AAI44476.1; -; mRNA.
DR CCDS; CCDS31234.1; -. [A6NDA9-1]
DR CCDS; CCDS60581.1; -. [A6NDA9-2]
DR RefSeq; NP_001017924.1; NM_001017924.3. [A6NDA9-1]
DR RefSeq; NP_001271152.1; NM_001284223.1. [A6NDA9-2]
DR AlphaFoldDB; A6NDA9; -.
DR SMR; A6NDA9; -.
DR STRING; 9606.ENSP00000438264; -.
DR GlyGen; A6NDA9; 1 site.
DR iPTMnet; A6NDA9; -.
DR PhosphoSitePlus; A6NDA9; -.
DR BioMuta; LRIT2; -.
DR MassIVE; A6NDA9; -.
DR MaxQB; A6NDA9; -.
DR PaxDb; A6NDA9; -.
DR PeptideAtlas; A6NDA9; -.
DR PRIDE; A6NDA9; -.
DR ProteomicsDB; 7256; -.
DR ProteomicsDB; 897; -. [A6NDA9-1]
DR Antibodypedia; 48881; 12 antibodies from 7 providers.
DR DNASU; 340745; -.
DR Ensembl; ENST00000372113.7; ENSP00000361185.3; ENSG00000204033.10. [A6NDA9-1]
DR Ensembl; ENST00000538192.5; ENSP00000438264.1; ENSG00000204033.10. [A6NDA9-2]
DR GeneID; 340745; -.
DR KEGG; hsa:340745; -.
DR MANE-Select; ENST00000372113.7; ENSP00000361185.3; NM_001017924.5; NP_001017924.1.
DR UCSC; uc001kcy.5; human. [A6NDA9-1]
DR CTD; 340745; -.
DR GeneCards; LRIT2; -.
DR HGNC; HGNC:23443; LRIT2.
DR HPA; ENSG00000204033; Tissue enriched (retina).
DR neXtProt; NX_A6NDA9; -.
DR OpenTargets; ENSG00000204033; -.
DR PharmGKB; PA162394344; -.
DR VEuPathDB; HostDB:ENSG00000204033; -.
DR eggNOG; KOG0619; Eukaryota.
DR GeneTree; ENSGT00940000159143; -.
DR HOGENOM; CLU_034556_1_0_1; -.
DR InParanoid; A6NDA9; -.
DR OMA; GITLEWH; -.
DR OrthoDB; 770995at2759; -.
DR PhylomeDB; A6NDA9; -.
DR TreeFam; TF330861; -.
DR PathwayCommons; A6NDA9; -.
DR BioGRID-ORCS; 340745; 12 hits in 1059 CRISPR screens.
DR GenomeRNAi; 340745; -.
DR Pharos; A6NDA9; Tdark.
DR PRO; PR:A6NDA9; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; A6NDA9; protein.
DR Bgee; ENSG00000204033; Expressed in mucosa of transverse colon and 40 other tissues.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR CDD; cd00063; FN3; 1.
DR Gene3D; 2.60.40.10; -; 1.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR000483; Cys-rich_flank_reg_C.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
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 InterPro; IPR020901; Prtase_inh_Kunz-CS.
DR Pfam; PF13855; LRR_8; 1.
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 PROSITE; PS50835; IG_LIKE; 1.
DR PROSITE; PS51450; LRR; 4.
PE 2: Evidence at transcript level;
KW Alternative splicing; Disulfide bond; Glycoprotein; Immunoglobulin domain;
KW Leucine-rich repeat; Membrane; Reference proteome; Repeat; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..550
FT /note="Leucine-rich repeat, immunoglobulin-like domain and
FT transmembrane domain-containing protein 2"
FT /id="PRO_0000309344"
FT TRANSMEM 466..486
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 23..54
FT /note="LRRNT"
FT REPEAT 80..103
FT /note="LRR 1"
FT REPEAT 104..125
FT /note="LRR 2"
FT REPEAT 128..149
FT /note="LRR 3"
FT REPEAT 152..173
FT /note="LRR 4"
FT DOMAIN 200..252
FT /note="LRRCT"
FT DOMAIN 253..341
FT /note="Ig-like"
FT DOMAIN 361..451
FT /note="Fibronectin type-III"
FT REGION 508..550
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 522..550
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 52
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 274..327
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VAR_SEQ 297
FT /note="D -> DGLLGGKHLTP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054539"
FT VARIANT 28
FT /note="C -> Y (in dbSNP:rs12773843)"
FT /id="VAR_036935"
FT VARIANT 179
FT /note="K -> N (in dbSNP:rs11200927)"
FT /id="VAR_036936"
FT VARIANT 220
FT /note="L -> F (in dbSNP:rs11200925)"
FT /id="VAR_036937"
FT VARIANT 496
FT /note="V -> A (in dbSNP:rs12217769)"
FT /id="VAR_036938"
FT VARIANT 510
FT /note="T -> P (in dbSNP:rs6585847)"
FT /id="VAR_036939"
SQ SEQUENCE 550 AA; 60168 MW; F9891BB309EDD630 CRC64;
MASVFHYFLL VLVFLDTHAA QPFCLPGCTC SEESFGRTLQ CTSVSLGKIP GNLSEEFKQV
RIENSPLFEM PQGSFINMST LEYLWLNFNN ISVIHLGALE HLPELRELRL EGNKLCSVPW
TAFRATPLLR VLDLKRNKID ALPELALQFL VSLTYLDLSS NRLTVVSKSV FLNWPAYQKC
RQPDCGAEIL SSLVVALHDN PWVCDCRLRG LVQFVKSITL PVILVNSYLI CQGPLSKAGQ
LFHETELSAC MKPQISTPSA NITIRAGQNV TLRCLAQASP SPSIAWTYPL SMWREFDVLT
SSTGEDTALS ELAIPAAHLV DSGNYTCMAS NSIGKSNLVI SLHVQPAQAL HAPDSLSIPS
EGNAYIDLRV VKQTVHGILL EWLAVADTSK EEWFTLYIAS DEAFRKEVVH IGPGINTYAV
DDLLPGTKYE ACLSLEGQPP HQGQCVAFVT GRDAGGLEAR EHLLHVTVVL CVVLLAVPVG
AYAWAAQGPC SCSKWVLRGC LHRRKAPSCT PAAPQSKDGS FREHPAVCDD GEGHIDTEGD
KEKGGTEDNS
