Q3SXY7 (LRIT3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3

Gene names

Name:

LRIT3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	679 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Might facilitate FGFR1 exit from the endoplasmic reticulum to the Golgi. Ref.4
Subcellular location	Endoplasmic reticulum membrane; Single-pass membrane protein Potential.
Post-translational modification	Glycosylated. Ref.4
Sequence similarities	Contains 1 fibronectin type-III domain. Contains 1 Ig-like (immunoglobulin-like) domain. Contains 5 LRR (leucine-rich) repeats. Contains 1 LRRCT domain.
Sequence caution	The sequence AAI04038.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Immunoglobulin domain Leucine-rich repeat Repeat Signal Transmembrane Transmembrane helix
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q3SXY7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Note: No experimental confirmation available.

Isoform 2 (identifier: Q3SXY7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     46-183: Missing.
     184-196: SGVLDLSPSRIIL → MVEPHQEPRHSKV

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 19	19	Potential
	Chain	20 – 679	660	Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3		PRO_0000309284
Regions
	Transmembrane	583 – 603	21	Helical; Potential
	Repeat	56 – 79	24	LRR 1
	Repeat	80 – 103	24	LRR 2
	Repeat	104 – 128	25	LRR 3
	Repeat	129 – 151	23	LRR 4
	Repeat	152 – 175	24	LRR 5
	Domain	201 – 253	53	LRRCT
	Domain	254 – 344	91	Ig-like
	Domain	484 – 574	91	Fibronectin type-III
	Compositional bias	373 – 433	61	Ser-rich
Amino acid modifications
	Glycosylation	296	1	N-linked (GlcNAc...) Potential
	Disulfide bond	275 ↔ 328		By similarity
Natural variations
	Alternative sequence	46 – 183	138	Missing in isoform 2.		VSP_029126
	Alternative sequence	184 – 196	13	SGVLD…SRIIL → MVEPHQEPRHSKV in isoform 2.		VSP_029127
	Natural variant	175	1	S → N. Ref.5 Corresponds to variant rs4698797 [ dbSNP | Ensembl ].		VAR_061317
	Natural variant	336	1	M → L. Ref.1 Ref.3 Corresponds to variant rs764205 [ dbSNP | Ensembl ].		VAR_036927
	Natural variant	486	1	A → T. Ref.5 Corresponds to variant rs2347131 [ dbSNP | Ensembl ].		VAR_036928
	Natural variant	494	1	S → T in one non-syndromic craniosynostosis patient; could be a polymorphism. Ref.4		VAR_069133
	Natural variant	503	1	T → M. Ref.5 Corresponds to variant rs2347132 [ dbSNP | Ensembl ].		VAR_036929
	Natural variant	592	1	C → Y in one non-syndromic craniosynostosis patient; could be a polymorphism. Ref.4		VAR_069134
Experimental info
	Mutagenesis	53	1	T → M: No effect on LRIT3 function. Ref.4
	Sequence conflict	169	1	P → T in AAI04038. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 3, 2013. Version 3. Checksum: 76CADAE7080021E5	FASTA	679	74,754
	10 20 30 40 50 60 MHLFACLCIV LSFLEGVGCL CPSQCTCDYH GRNDGSGSRL VLCNDMDMNE LPTNLPVDTV 70 80 90 100 110 120 KLRIEKTVIR RISAEAFYYL VELQYLWVTY NSVASIDPSS FYNLKQLHEL RLDGNSLAAF 130 140 150 160 170 180 PWASLLDMPL LRTLDLHNNK ITSVPNEALR YLKNLAYLDL SSNRLTTLPP DFLESWTHLV 190 200 210 220 230 240 STPSGVLDLS PSRIILGLQD NPWFCDCHIS KMIELSKVVD PAIVLLDPLM TCSEPERLTG 250 260 270 280 290 300 ILFQRAELEH CLKPSVMTSA TKIMSALGSN VLLRCDATGF PTPQITWTRS DSSPVNYTVI 310 320 330 340 350 360 QESPEEGVRW SIMSLTGISS KDAGDYKCKA KNLAGMSEAV VTVTVLGITT TPIPPDTSER 370 380 390 400 410 420 TGDHPEWDVQ PGSGRSTSVS SASSYLWSSS FSPTSSFSAS TLSPPSTASF SLSPFSSSTV 430 440 450 460 470 480 SSTTTLSTSI SASTTMANKR SFQLHQGGKR NLKVAKNGSK LPPASTSKKE ELALLDQTML 490 500 510 520 530 540 TETNAAIENL RVVSETKESV TLTWNMINTT HNSAVTVLYS KYGGKDLLLL NADSSKNQVT 550 560 570 580 590 600 IDGLEPGGQY MACVCPKGVP PQKDQCITFS TERVEGDDSQ WSLLLVVTST ACVVILPLIC 610 620 630 640 650 660 FLLYKVCKLQ CKSEPFWEDD LAKETYIQFE TLFPRSQSVG ELWTRSHRDD SEKLLLCSRS 670 SVESQVTFKS EGSRPEYYC
	Isoform 2 [UniParc]. Checksum: 4363DEA8D464A387	FASTA	541	59,051
	10 20 30 40 50 60 MHLFACLCIV LSFLEGVGCL CPSQCTCDYH GRNDGSGSRL VLCNDMVEPH QEPRHSKVGL 70 80 90 100 110 120 QDNPWFCDCH ISKMIELSKV VDPAIVLLDP LMTCSEPERL TGILFQRAEL EHCLKPSVMT 130 140 150 160 170 180 SATKIMSALG SNVLLRCDAT GFPTPQITWT RSDSSPVNYT VIQESPEEGV RWSIMSLTGI 190 200 210 220 230 240 SSKDAGDYKC KAKNLAGMSE AVVTVTVLGI TTTPIPPDTS ERTGDHPEWD VQPGSGRSTS 250 260 270 280 290 300 VSSASSYLWS SSFSPTSSFS ASTLSPPSTA SFSLSPFSSS TVSSTTTLST SISASTTMAN 310 320 330 340 350 360 KRSFQLHQGG KRNLKVAKNG SKLPPASTSK KEELALLDQT MLTETNAAIE NLRVVSETKE 370 380 390 400 410 420 SVTLTWNMIN TTHNSAVTVL YSKYGGKDLL LLNADSSKNQ VTIDGLEPGG QYMACVCPKG 430 440 450 460 470 480 VPPQKDQCIT FSTERVEGDD SQWSLLLVVT STACVVILPL ICFLLYKVCK LQCKSEPFWE 490 500 510 520 530 540 DDLAKETYIQ FETLFPRSQS VGELWTRSHR DDSEKLLLCS RSSVESQVTF KSEGSRPEYY C

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LEU-336. Tissue: Cerebellum.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LEU-336.
[4]	"Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1." Kim S.D., Liu J.L., Roscioli T., Buckley M.F., Yagnik G., Boyadjiev S.A., Kim J. FEBS Lett. 586:1516-1521(2012) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-83, IDENTIFICATION OF EXON 1, FUNCTION, GLYCOSYLATION, VARIANTS THR-494 AND TYR-592, MUTAGENESIS OF THR-53.
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 108-634 (ISOFORM 1), VARIANTS ASN-175; THR-486 AND MET-503.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK126648 mRNA. Translation: BAC86628.1. AC005509 Genomic DNA. No translation available. CH471057 Genomic DNA. Translation: EAX06256.1. JQ354981 mRNA. Translation: AFH56665.1. BC104037 mRNA. Translation: AAI04038.1. Different initiation.
IPI	IPI00394850. IPI00746317.
RefSeq	NP_940908.3. NM_198506.3.
UniGene	Hs.308127.
3D structure databases
ProteinModelPortal	Q3SXY7.
ModBase	Search...
PTM databases
PhosphoSite	Q3SXY7.
Polymorphism databases
DMDM	269849616.
Proteomic databases
PaxDb	Q3SXY7.
PRIDE	Q3SXY7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000594814; ENSP00000469759; ENSG00000183423.
GeneID	345193.
KEGG	hsa:345193.
UCSC	uc003hzw.4. human. uc003hzx.4. human.
Organism-specific databases
CTD	345193.
GeneCards	GC04P110772.
HGNC	HGNC:24783. LRIT3.
HPA	HPA013454.
MIM	615004. gene.
neXtProt	NX_Q3SXY7.
Orphanet	215. Congenital stationary night blindness.
PharmGKB	PA162394355.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG310852.
HOGENOM	HOG000063714.
HOVERGEN	HBG108105.
InParanoid	Q3SXY7.
OMA	RTGDHPE.
OrthoDB	EOG4THVT6.
Gene expression databases
Bgee	Q3SXY7.
CleanEx	HS_LRIT3.
Genevestigator	Q3SXY7.
Family and domain databases
Gene3D	2.60.40.10. 2 hits.
InterPro	IPR003961. Fibronectin_type3. IPR007110. Ig-like_dom. IPR013783. Ig-like_fold. IPR013098. Ig_I-set. IPR003598. Ig_sub2. IPR001611. Leu-rich_rpt. IPR003591. Leu-rich_rpt_typical-subtyp. IPR000372. LRR-contain_N. [Graphical view]
Pfam	PF07679. I-set. 1 hit. [Graphical view]
SMART	SM00060. FN3. 1 hit. SM00408. IGc2. 1 hit. SM00369. LRR_TYP. 2 hits. SM00013. LRRNT. 1 hit. [Graphical view]
SUPFAM	SSF49265. FN_III-like. 1 hit.
PROSITE	PS50853. FN3. False negative. PS50835. IG_LIKE. 1 hit. PS51450. LRR. 4 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	345193.
NextBio	98830.
SOURCE	Search...

Entry information

Entry name

LRIT3_HUMAN

Accession

Primary (citable) accession number: Q3SXY7
Secondary accession number(s): C9J1C2, Q6ZTG1

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 13, 2007
Last sequence update:	April 3, 2013
Last modified:	May 29, 2013
This is version 78 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.