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Protein

Leucine-rich repeat-containing protein 34

Gene

LRRC34

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

Functioni

Highly expressed in stem cells where it may be involved in regulation of pluripotency. In embryonic stem cells (ESCs), important for normal expression of the pluripotency regulators POU5F1/OCT4 and KLF4. Also important for expression of the ectodermal marker gene NES and the endodermal marker gene GATA4. Promotes stem cell proliferation in vitro.By similarity

Caution

It is uncertain whether Met-1 or Met-14 is the initiator.Curated

GO - Biological processi

Keywordsi

Biological processDifferentiation

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

EuPathDBiHostDB:ENSG00000171757.15
HGNCiHGNC:28408 LRRC34
neXtProtiNX_Q8IZ02

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

Cytoplasm, Nucleus

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 – 464Leucine-rich repeat-containing protein 34Add BLAST464

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

Subunit structurei

Interacts with NPM1 and NCL.By similarity

Protein-protein interaction databases

BioGridi127404, 2 interactors

Structurei

3D structure databases

ProteinModelPortaliQ8IZ02
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati295 – 315LRR 1Add BLAST21
Repeati323 – 345LRR 2Add BLAST23

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

GeneTreeiENSGT00730000110609
HOGENOMiHOG000007976
HOVERGENiHBG080754
InParanoidiQ8IZ02
OMAiHNRSLKA
OrthoDBiEOG091G0I7O
PhylomeDBiQ8IZ02
TreeFamiTF329653

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF13516 LRR_6, 6 hits

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8IZ02-2) [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
MAAQPPRPVG ERSMGSSREA ARAPARSPAW ASTQASTPGA ALAVQRESPE
60 70 80 90 100
SGLQKHYSNL CMEKSQKINP FILHILQEVD EEIKKGLAAG ITLNIAGNNR
110 120 130 140 150
LVPVERVTGE DFWILSKILK NCLYINGLDV GYNLLCDVGA YYAAKLLQKQ
160 170 180 190 200
LNLIYLNLMF NDIGPEGGEL IAKVLHKNRT LKYLRMTGNK IENKGGMFFA
210 220 230 240 250
AMLQINSSLE KLDLGDCDLG MQSVIAFATV LTQNQAIKAI NLNRPILYSE
260 270 280 290 300
QEESTVHVGR MLKENHCLVA LHMCKHDIKN SGIQQLCDAL YLNSSLRYLD
310 320 330 340 350
VSCNKITHDG MVYLADVLKS NTTLEVIDLS FNRIENAGAN YLSETLTSHN
360 370 380 390 400
RSLKALSVVS NNIEGEGLVA LSQSMKTNLT FSHIYIWGNK FDEATCIAYS
410 420 430 440 450
DLIQMGCLKP DNTDVEPFVV DGRVYLAEVS NGLKKHYYWT STYGESYDHS
460
SNAGFALVPV GQQP
Note: No experimental confirmation available.
Length:464
Mass (Da):51,277
Last modified:March 28, 2018 - v3
Checksum:i31413A6E9FE6CCA5
GO
Isoform 2 (identifier: Q8IZ02-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     220-251: Missing.

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

Sequence cautioni

The sequence AAH32841 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti82E → G in BAG57108 (PubMed:14702039).Curated1
Sequence conflicti398A → T in AAH32841 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05111549P → L. Corresponds to variant dbSNP:rs9820986Ensembl.1
Natural variantiVAR_034086286L → I. Corresponds to variant dbSNP:rs10936600Ensembl.1
Natural variantiVAR_051116405M → I. Corresponds to variant dbSNP:rs9872760Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_059511220 – 251Missing in isoform 2. 1 PublicationAdd BLAST32

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 Different initiation.
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 [Q8IZ02-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLRC34_HUMAN
AccessioniPrimary (citable) accession number: Q8IZ02
Secondary accession number(s): B4DEJ7, E9PBH2, G5E9T7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: March 28, 2018
Last modified: April 25, 2018
This is version 121 of the entry and version 3 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
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Main funding by: National Institutes of Health