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Protein

Leucine-rich repeat-containing protein 17

Gene

LRRC17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processOsteogenesis

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

EuPathDBiHostDB:ENSG00000128606.12
HGNCiHGNC:16895 LRRC17
neXtProtiNX_Q8N6Y2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi72249
72250 [Q8N6Y2-2]

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 Expressed in 200 organ(s), highest expression level in secondary oocyte
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

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00930000150809
HOGENOMiHOG000113365
HOVERGENiHBG052344
InParanoidiQ8N6Y2
OMAiEEYKGWF
OrthoDBiEOG091G06KH
PhylomeDBiQ8N6Y2

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR000483 Cys-rich_flank_reg_C
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF13855 LRR_8, 2 hits
SMARTiView protein in SMART
SM00369 LRR_TYP, 6 hits
SM00082 LRRCT, 2 hits
PROSITEiView protein in PROSITE
PS51450 LRR, 6 hits

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JT74C9JT74_HUMAN
Leucine-rich repeat-containing prot...
LRRC17
104Annotation score:

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 dbSNP:rs34613342Ensembl.1
Natural variantiVAR_051104119K → E. Corresponds to variant dbSNP:rs3800939Ensembl.1
Natural variantiVAR_051105187G → A1 PublicationCorresponds to variant dbSNP:rs1057066Ensembl.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

Similar proteinsi

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
ProteomicsDBi72249
72250 [Q8N6Y2-2]

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
EuPathDBiHostDB:ENSG00000128606.12
GeneCardsiLRRC17
HGNCiHGNC:16895 LRRC17
HPAiHPA030139
neXtProtiNX_Q8N6Y2
OpenTargetsiENSG00000128606
PharmGKBiPA134866295
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00930000150809
HOGENOMiHOG000113365
HOVERGENiHBG052344
InParanoidiQ8N6Y2
OMAiEEYKGWF
OrthoDBiEOG091G06KH
PhylomeDBiQ8N6Y2

Miscellaneous databases

GeneWikiiLRRC17
GenomeRNAii10234
PROiPR:Q8N6Y2

Gene expression databases

BgeeiENSG00000128606 Expressed in 200 organ(s), highest expression level in secondary oocyte
CleanExiHS_LRRC17
ExpressionAtlasiQ8N6Y2 baseline and differential
GenevisibleiQ8N6Y2 HS

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR000483 Cys-rich_flank_reg_C
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF13855 LRR_8, 2 hits
SMARTiView protein in SMART
SM00369 LRR_TYP, 6 hits
SM00082 LRRCT, 2 hits
PROSITEiView protein in PROSITE
PS51450 LRR, 6 hits
ProtoNetiSearch...

Entry informationi

Entry nameiLRC17_HUMAN
AccessioniPrimary (citable) accession number: Q8N6Y2
Secondary accession number(s): Q13288, Q6UWA7, Q75MG5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 131 of the entry and version 1 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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