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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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000128606-MONOMER.

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

DisGeNETi10234.
OpenTargetsiENSG00000128606.
PharmGKBiPA134866295.

Polymorphism and mutation databases

BioMutaiLRRC17.
DMDMi51701682.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000002160819 – 441Leucine-rich repeat-containing protein 17Add BLAST423

Proteomic databases

MaxQBiQ8N6Y2.
PaxDbiQ8N6Y2.
PeptideAtlasiQ8N6Y2.
PRIDEiQ8N6Y2.

PTM databases

iPTMnetiQ8N6Y2.
PhosphoSitePlusiQ8N6Y2.

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

BgeeiENSG00000128606.
CleanExiHS_LRRC17.
ExpressionAtlasiQ8N6Y2. baseline and differential.
GenevisibleiQ8N6Y2. HS.

Organism-specific databases

HPAiHPA030139.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000344242.

Structurei

3D structure databases

ProteinModelPortaliQ8N6Y2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati82 – 103LRR 1Add BLAST22
Repeati106 – 127LRR 2Add BLAST22
Repeati130 – 151LRR 3Add BLAST22
Domaini163 – 214LRRCT 1Add BLAST52
Domaini225 – 268LRRNTAdd BLAST44
Repeati269 – 290LRR 4Add BLAST22
Repeati293 – 314LRR 5Add BLAST22
Repeati317 – 340LRR 6Add BLAST24
Domaini350 – 402LRRCT 2Add BLAST53

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.
OrthoDBiEOG091G06KH.
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)DescriptionActionsGraphical viewLength
Sequence conflicti214Missing in AAQ89248 (PubMed:12975309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05110395T → I.Corresponds to variant rs34613342dbSNPEnsembl.1
Natural variantiVAR_051104119K → E.Corresponds to variant rs3800939dbSNPEnsembl.1
Natural variantiVAR_051105187G → A.1 PublicationCorresponds to variant rs1057066dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011424310 – 313AAFL → GSLR in isoform 2. 1 Publication4
Alternative sequenceiVSP_011425314 – 441Missing in isoform 2. 1 PublicationAdd BLAST128

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000344242.

PTM databases

iPTMnetiQ8N6Y2.
PhosphoSitePlusiQ8N6Y2.

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.
DisGeNETi10234.
GeneCardsiLRRC17.
HGNCiHGNC:16895. LRRC17.
HPAiHPA030139.
neXtProtiNX_Q8N6Y2.
OpenTargetsiENSG00000128606.
PharmGKBiPA134866295.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129708.
HOGENOMiHOG000113365.
HOVERGENiHBG052344.
InParanoidiQ8N6Y2.
OMAiIQTLDCK.
OrthoDBiEOG091G06KH.
PhylomeDBiQ8N6Y2.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000128606-MONOMER.

Miscellaneous databases

GeneWikiiLRRC17.
GenomeRNAii10234.
PROiQ8N6Y2.

Gene expression databases

BgeeiENSG00000128606.
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...

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: November 30, 2016
This is version 120 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.