Q6ZQY2 (YV012_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names	Recommended name: Leucine-rich repeat-containing protein LOC400891
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	391 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 9 LRR (leucine-rich) repeats.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Leucine-rich repeat Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

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

Isoform 1 (identifier: Q6ZQY2-1)

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.

Isoform 2 (identifier: Q6ZQY2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     139-391: DVDLSENQLG...RSALPASVPK → GRCWVWGRWAGVSSFSSGMCLHR

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 391	391	Leucine-rich repeat-containing protein LOC400891		PRO_0000318964
Regions
	Repeat	106 – 129	24	LRR 1
	Repeat	134 – 157	24	LRR 2
	Repeat	162 – 185	24	LRR 3
	Repeat	192 – 213	22	LRR 4
	Repeat	220 – 241	22	LRR 5
	Repeat	248 – 269	22	LRR 6
	Repeat	276 – 297	22	LRR 7
	Repeat	304 – 324	21	LRR 8
	Repeat	333 – 355	23	LRR 9
Natural variations
	Alternative sequence	139 – 391	253	DVDLS…ASVPK → GRCWVWGRWAGVSSFSSGMC LHR in isoform 2.		VSP_031321
	Natural variant	3	1	G → R. Corresponds to variant rs12170538 [ dbSNP | Ensembl ].		VAR_038923
	Natural variant	77	1	R → C. Corresponds to variant rs9620774 [ dbSNP | Ensembl ].		VAR_038924

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 26, 2008. Version 2. Checksum: C4FA84C77F7C99F8	FASTA	391	41,522
	10 20 30 40 50 60 MRGSCERSGE DEEQKEEAMV ACGRLSGVPE AEQGPEANWD SDLETEGTDG LGELVRDTLY 70 80 90 100 110 120 LRSCRAHSVV PISCFLRQGS AQELNLRHRG LGPQGARALA SSLSSNPYVK RLDLRDNGLC 130 140 150 160 170 180 GAGAEALAGA LSKSSSIHDV DLSENQLGVA GAQALCAALT VNQAMRKMQL SGNGLEEQAA 190 200 210 220 230 240 QHLAELLLAH TDLKSLDLSY NQLNDQAGET LGPALAENTG LTELNVSWNH LRGPGAVAFA 250 260 270 280 290 300 RGLEANIFLK VLDISYNGFG DPGASAVGEA LKANNVLEEL NMSNNRISAM GALSLGLGLR 310 320 330 340 350 360 VNQTLRILVS RNPMRSEGCF GLLKSVQDNP ASALELLDFS DIQVNAEFDG LASSVRGILP 370 380 390 ELCIKTGACR VEYKKELLPV FRSALPASVP K
	Isoform 2 [UniParc]. Checksum: CA4643C22000F493	FASTA	161	17,279
	10 20 30 40 50 60 MRGSCERSGE DEEQKEEAMV ACGRLSGVPE AEQGPEANWD SDLETEGTDG LGELVRDTLY 70 80 90 100 110 120 LRSCRAHSVV PISCFLRQGS AQELNLRHRG LGPQGARALA SSLSSNPYVK RLDLRDNGLC 130 140 150 160 GAGAEALAGA LSKSSSIHGR CWVWGRWAGV SSFSSGMCLH R

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). Tissue: Trachea.
[2]	"The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H. Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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] (ISOFORM 2). Tissue: Fetal brain.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK128646 mRNA. Translation: BAC87547.1. AC002472 Genomic DNA. No translation available. BC028231 mRNA. No translation available.
IPI	IPI00847652. IPI00884933.
UniGene	Hs.291198.
3D structure databases
ProteinModelPortal	Q6ZQY2.
ModBase	Search...
Polymorphism databases
DMDM	172046186.
Proteomic databases
PaxDb	Q6ZQY2.
PRIDE	Q6ZQY2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Organism-specific databases
GeneCards	GC22P021438.
neXtProt	NX_Q6ZQY2.
Phylogenomic databases
eggNOG	NOG126824.
HOGENOM	HOG000155712.
HOVERGEN	HBG108751.
OMA	ISYNGFG.
Gene expression databases
ArrayExpress	Q6ZQY2.
Bgee	Q6ZQY2.
Genevestigator	Q6ZQY2.
Family and domain databases
ProtoNet	Search...

Entry information

Entry name

YV012_HUMAN

Accession

Primary (citable) accession number: Q6ZQY2

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 26, 2008
Last sequence update:	February 26, 2008
Last modified:	May 1, 2013
This is version 54 of the entry and version 2 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.