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Protein

Leucine-rich repeat-containing protein 17

Gene

LRRC17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Involved in bone homeostasis. Acts as a negative regulator of RANKL-induced osteoclast precursor differentiation from bone marrow precursors (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Osteogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat-containing protein 17
Alternative name(s):
p37NB
Gene namesi
Name:LRRC17
Synonyms:P37NB
ORF Names:UNQ3076/PRO9909
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:16895. LRRC17.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134866295.

Polymorphism and mutation databases

BioMutaiLRRC17.
DMDMi51701682.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence analysisAdd
BLAST
Chaini19 – 441423Leucine-rich repeat-containing protein 17PRO_0000021608Add
BLAST

Proteomic databases

MaxQBiQ8N6Y2.
PaxDbiQ8N6Y2.
PeptideAtlasiQ8N6Y2.
PRIDEiQ8N6Y2.

PTM databases

iPTMnetiQ8N6Y2.
PhosphoSiteiQ8N6Y2.

Expressioni

Tissue specificityi

Expressed in osteoblast cell lines. Well expressed in ovary, heart, pancreas, skeletal muscle, lung, and fetal kidney and lung and only at the basal levels in the other tissues examined including adult kidney. More expressed in S-type neuroblastoma cells than in N-type neuroblastoma cells.2 Publications

Gene expression databases

BgeeiQ8N6Y2.
CleanExiHS_LRRC17.
ExpressionAtlasiQ8N6Y2. baseline and differential.
GenevisibleiQ8N6Y2. HS.

Organism-specific databases

HPAiHPA030139.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000344242.

Structurei

3D structure databases

ProteinModelPortaliQ8N6Y2.
SMRiQ8N6Y2. Positions 40-389.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati82 – 10322LRR 1Add
BLAST
Repeati106 – 12722LRR 2Add
BLAST
Repeati130 – 15122LRR 3Add
BLAST
Domaini163 – 21452LRRCT 1Add
BLAST
Domaini225 – 26844LRRNTAdd
BLAST
Repeati269 – 29022LRR 4Add
BLAST
Repeati293 – 31422LRR 5Add
BLAST
Repeati317 – 34024LRR 6Add
BLAST
Domaini350 – 40253LRRCT 2Add
BLAST

Sequence similaritiesi

Contains 6 LRR (leucine-rich) repeats.Curated
Contains 2 LRRCT domains.Curated
Contains 1 LRRNT domain.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129708.
HOGENOMiHOG000113365.
HOVERGENiHBG052344.
InParanoidiQ8N6Y2.
OMAiIQTLDCK.
OrthoDBiEOG79PJPB.
PhylomeDBiQ8N6Y2.

Family and domain databases

Gene3Di3.80.10.10. 2 hits.
InterProiIPR000483. Cys-rich_flank_reg_C.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF13855. LRR_8. 2 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 6 hits.
SM00082. LRRCT. 2 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS51450. LRR. 6 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N6Y2-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MRVVTIVILL CFCKAAELRK ASPGSVRSRV NHGRAGGGRR GSNPVKRYAP
60 70 80 90 100
GLPCDVYTYL HEKYLDCQER KLVYVLPGWP QDLLHMLLAR NKIRTLKNNM
110 120 130 140 150
FSKFKKLKSL DLQQNEISKI ESEAFFGLNK LTTLLLQHNQ IKVLTEEVFI
160 170 180 190 200
YTPLLSYLRL YDNPWHCTCE IETLISMLQI PRNRNLGNYA KCESPQEQKN
210 220 230 240 250
KKLRQIKSEQ LCNEEEKEQL DPKPQVSGRP PVIKPEVDST FCHNYVFPIQ
260 270 280 290 300
TLDCKRKELK KVPNNIPPDI VKLDLSYNKI NQLRPKEFED VHELKKLNLS
310 320 330 340 350
SNGIEFIDPA AFLGLTHLEE LDLSNNSLQN FDYGVLEDLY FLKLLWLRDN
360 370 380 390 400
PWRCDYNIHY LYYWLKHHYN VHFNGLECKT PEEYKGWSVG KYIRSYYEEC
410 420 430 440
PKDKLPAYPE SFDQDTEDDE WEKKHRDHTA KKQSVIITIV G
Length:441
Mass (Da):51,800
Last modified:October 1, 2002 - v1
Checksum:iF629666C807A4254
GO
Isoform 2 (identifier: Q8N6Y2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     310-313: AAFL → GSLR
     314-441: Missing.

Show »
Length:313
Mass (Da):36,273
Checksum:iE152A766A4617938
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti214 – 2141Missing in AAQ89248 (PubMed:12975309).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti95 – 951T → I.
Corresponds to variant rs34613342 [ dbSNP | Ensembl ].
VAR_051103
Natural varianti119 – 1191K → E.
Corresponds to variant rs3800939 [ dbSNP | Ensembl ].
VAR_051104
Natural varianti187 – 1871G → A.1 Publication
Corresponds to variant rs1057066 [ dbSNP | Ensembl ].
VAR_051105

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei310 – 3134AAFL → GSLR in isoform 2. 1 PublicationVSP_011424
Alternative sequencei314 – 441128Missing in isoform 2. 1 PublicationVSP_011425Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U32907 mRNA. Translation: AAB41565.1.
AY358889 mRNA. Translation: AAQ89248.1.
AC073127 Genomic DNA. Translation: AAS07483.1.
BC027903 mRNA. Translation: AAH27903.1.
CCDSiCCDS34721.1. [Q8N6Y2-1]
CCDS5727.1. [Q8N6Y2-2]
PIRiG02020.
RefSeqiNP_001026862.1. NM_001031692.2. [Q8N6Y2-1]
NP_005815.2. NM_005824.2. [Q8N6Y2-2]
XP_005250165.1. XM_005250108.1. [Q8N6Y2-1]
UniGeneiHs.567412.

Genome annotation databases

EnsembliENST00000249377; ENSP00000249377; ENSG00000128606. [Q8N6Y2-2]
ENST00000339431; ENSP00000344242; ENSG00000128606. [Q8N6Y2-1]
GeneIDi10234.
KEGGihsa:10234.
UCSCiuc003vat.4. human. [Q8N6Y2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U32907 mRNA. Translation: AAB41565.1.
AY358889 mRNA. Translation: AAQ89248.1.
AC073127 Genomic DNA. Translation: AAS07483.1.
BC027903 mRNA. Translation: AAH27903.1.
CCDSiCCDS34721.1. [Q8N6Y2-1]
CCDS5727.1. [Q8N6Y2-2]
PIRiG02020.
RefSeqiNP_001026862.1. NM_001031692.2. [Q8N6Y2-1]
NP_005815.2. NM_005824.2. [Q8N6Y2-2]
XP_005250165.1. XM_005250108.1. [Q8N6Y2-1]
UniGeneiHs.567412.

3D structure databases

ProteinModelPortaliQ8N6Y2.
SMRiQ8N6Y2. Positions 40-389.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000344242.

PTM databases

iPTMnetiQ8N6Y2.
PhosphoSiteiQ8N6Y2.

Polymorphism and mutation databases

BioMutaiLRRC17.
DMDMi51701682.

Proteomic databases

MaxQBiQ8N6Y2.
PaxDbiQ8N6Y2.
PeptideAtlasiQ8N6Y2.
PRIDEiQ8N6Y2.

Protocols and materials databases

DNASUi10234.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000249377; ENSP00000249377; ENSG00000128606. [Q8N6Y2-2]
ENST00000339431; ENSP00000344242; ENSG00000128606. [Q8N6Y2-1]
GeneIDi10234.
KEGGihsa:10234.
UCSCiuc003vat.4. human. [Q8N6Y2-1]

Organism-specific databases

CTDi10234.
GeneCardsiLRRC17.
HGNCiHGNC:16895. LRRC17.
HPAiHPA030139.
neXtProtiNX_Q8N6Y2.
PharmGKBiPA134866295.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129708.
HOGENOMiHOG000113365.
HOVERGENiHBG052344.
InParanoidiQ8N6Y2.
OMAiIQTLDCK.
OrthoDBiEOG79PJPB.
PhylomeDBiQ8N6Y2.

Miscellaneous databases

GeneWikiiLRRC17.
GenomeRNAii10234.
PROiQ8N6Y2.

Gene expression databases

BgeeiQ8N6Y2.
CleanExiHS_LRRC17.
ExpressionAtlasiQ8N6Y2. baseline and differential.
GenevisibleiQ8N6Y2. HS.

Family and domain databases

Gene3Di3.80.10.10. 2 hits.
InterProiIPR000483. Cys-rich_flank_reg_C.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF13855. LRR_8. 2 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 6 hits.
SM00082. LRRCT. 2 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS51450. LRR. 6 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "A cDNA encoding a putative 37 kDa leucine-rich repeat (LRR) protein, p37NB, isolated from S-type neuroblastoma cell has a differential tissue distribution."
    Kim D., LaQuaglia M.P., Yang S.Y.
    Biochim. Biophys. Acta 1309:183-188(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, VARIANT ALA-187.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORM 2).
  4. "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 1).
    Tissue: Pancreas.
  5. "Identification of LRRc17 as a negative regulator of receptor activator of NF-kappaB ligand (RANKL)-induced osteoclast differentiation."
    Kim T., Kim K., Lee S.H., So H.-S., Lee J., Kim N., Choi Y.
    J. Biol. Chem. 284:15308-15316(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiLRC17_HUMAN
AccessioniPrimary (citable) accession number: Q8N6Y2
Secondary accession number(s): Q13288, Q6UWA7, Q75MG5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: October 1, 2002
Last modified: July 6, 2016
This is version 116 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 7
    Human chromosome 7: 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. 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.