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Protein

Leucine-rich repeat-containing protein 34

Gene

LRRC34

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat-containing protein 34
Gene namesi
Name:LRRC34
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:28408. LRRC34.

Pathology & Biotechi

Organism-specific databases

DisGeNETi151827.
OpenTargetsiENSG00000171757.
PharmGKBiPA142671522.

Polymorphism and mutation databases

BioMutaiLRRC34.
DMDMi296434572.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002286691 – 419Leucine-rich repeat-containing protein 34Add BLAST419

Proteomic databases

MaxQBiQ8IZ02.
PeptideAtlasiQ8IZ02.
PRIDEiQ8IZ02.

PTM databases

iPTMnetiQ8IZ02.
PhosphoSitePlusiQ8IZ02.

Expressioni

Gene expression databases

BgeeiENSG00000171757.
CleanExiHS_LRRC34.
ExpressionAtlasiQ8IZ02. baseline and differential.
GenevisibleiQ8IZ02. HS.

Organism-specific databases

HPAiHPA035747.
HPA058105.

Interactioni

Protein-protein interaction databases

BioGridi127404. 2 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ8IZ02.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati250 – 276LRR 1Add BLAST27
Repeati278 – 300LRR 2Add BLAST23

Sequence similaritiesi

Contains 2 LRR (leucine-rich) repeats.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

GeneTreeiENSGT00730000110609.
HOGENOMiHOG000007976.
HOVERGENiHBG080754.
InParanoidiQ8IZ02.
OMAiHNRSLKA.
OrthoDBiEOG091G0I7O.
PhylomeDBiQ8IZ02.
TreeFamiTF329653.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
[Graphical view]
PfamiPF13516. LRR_6. 5 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IZ02-1) [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
MGSSREAARA PARSPAWAST QASTPGAALA VQRESPESGL QKHYSNLCME
60 70 80 90 100
KSQKINPFIL HILQEVDEEI KKGLAAGITL NIAGNNRLVP VERVTGEDFW
110 120 130 140 150
ILSKILKNCL YINGLDVGYN LLCDVGAYYA AKLLQKQLNL IYLNLMFNDI
160 170 180 190 200
GPEGGELIAK VLHKNRTLKY LRMTGNKIEN KGGMFFAAML QINSSLEKLD
210 220 230 240 250
LGDCDLEEST VHVGRMLKEN HCLVALHMCK HDIKNSGIQQ LCDALYLNSS
260 270 280 290 300
LRYLDVSCNK ITHDGMVYLA DVLKSNTTLE VIDLSFNRIE NAGANYLSET
310 320 330 340 350
LTSHNRSLKA LSVVSNNIEG EGLVALSQSM KTNLTFSHIY IWGNKFDEAT
360 370 380 390 400
CIAYSDLIQM GCLKPDNTDV EPFVVDGRVY LAEVSNGLKK HYYWTSTYGE
410
SYDHSSNAGF ALVPVGQQP
Length:419
Mass (Da):46,384
Last modified:May 18, 2010 - v2
Checksum:iDD1C886874AA014D
GO
Isoform 2 (identifier: Q8IZ02-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAAQPPRPVGERSM
     206-206: L → LGMQSVIAFATVLTQNQAIKAINLNRPILYSEQ

Note: No experimental confirmation available.
Show »
Length:464
Mass (Da):51,277
Checksum:i31413A6E9FE6CCA5
GO
Isoform 3 (identifier: Q8IZ02-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAAQPPRPVGERSM

Note: No experimental confirmation available.
Show »
Length:432
Mass (Da):47,762
Checksum:iE7E1FBEF8CE6FAB0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti69E → G in BAG57108 (PubMed:14702039).Curated1
Sequence conflicti353A → T in AAH32841 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05111536P → L.Corresponds to variant rs9820986dbSNPEnsembl.1
Natural variantiVAR_034086241L → I.Corresponds to variant rs10936600dbSNPEnsembl.1
Natural variantiVAR_051116360M → I.Corresponds to variant rs9872760dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0460881M → MAAQPPRPVGERSM in isoform 2 and isoform 3. 1 Publication1
Alternative sequenceiVSP_046089206L → LGMQSVIAFATVLTQNQAIK AINLNRPILYSEQ in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK293661 mRNA. Translation: BAG57108.1.
AC078795 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78539.1.
BC032841 mRNA. Translation: AAH32841.1.
CCDSiCCDS3208.2. [Q8IZ02-3]
CCDS54672.1. [Q8IZ02-2]
RefSeqiNP_001166250.1. NM_001172779.1. [Q8IZ02-2]
NP_699184.2. NM_153353.4. [Q8IZ02-3]
UniGeneiHs.591289.

Genome annotation databases

EnsembliENST00000446859; ENSP00000414635; ENSG00000171757. [Q8IZ02-2]
ENST00000522526; ENSP00000429278; ENSG00000171757. [Q8IZ02-3]
GeneIDi151827.
KEGGihsa:151827.
UCSCiuc003ffx.4. human. [Q8IZ02-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK293661 mRNA. Translation: BAG57108.1.
AC078795 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78539.1.
BC032841 mRNA. Translation: AAH32841.1.
CCDSiCCDS3208.2. [Q8IZ02-3]
CCDS54672.1. [Q8IZ02-2]
RefSeqiNP_001166250.1. NM_001172779.1. [Q8IZ02-2]
NP_699184.2. NM_153353.4. [Q8IZ02-3]
UniGeneiHs.591289.

3D structure databases

ProteinModelPortaliQ8IZ02.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127404. 2 interactors.

PTM databases

iPTMnetiQ8IZ02.
PhosphoSitePlusiQ8IZ02.

Polymorphism and mutation databases

BioMutaiLRRC34.
DMDMi296434572.

Proteomic databases

MaxQBiQ8IZ02.
PeptideAtlasiQ8IZ02.
PRIDEiQ8IZ02.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000446859; ENSP00000414635; ENSG00000171757. [Q8IZ02-2]
ENST00000522526; ENSP00000429278; ENSG00000171757. [Q8IZ02-3]
GeneIDi151827.
KEGGihsa:151827.
UCSCiuc003ffx.4. human. [Q8IZ02-1]

Organism-specific databases

CTDi151827.
DisGeNETi151827.
GeneCardsiLRRC34.
HGNCiHGNC:28408. LRRC34.
HPAiHPA035747.
HPA058105.
neXtProtiNX_Q8IZ02.
OpenTargetsiENSG00000171757.
PharmGKBiPA142671522.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00730000110609.
HOGENOMiHOG000007976.
HOVERGENiHBG080754.
InParanoidiQ8IZ02.
OMAiHNRSLKA.
OrthoDBiEOG091G0I7O.
PhylomeDBiQ8IZ02.
TreeFamiTF329653.

Miscellaneous databases

GenomeRNAii151827.
PROiQ8IZ02.

Gene expression databases

BgeeiENSG00000171757.
CleanExiHS_LRRC34.
ExpressionAtlasiQ8IZ02. baseline and differential.
GenevisibleiQ8IZ02. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
[Graphical view]
PfamiPF13516. LRR_6. 5 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLRC34_HUMAN
AccessioniPrimary (citable) accession number: Q8IZ02
Secondary accession number(s): B4DEJ7, E9PBH2, G5E9T7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 112 of the entry and version 2 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 3
    Human chromosome 3: 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.