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Protein

Leucine-rich repeat-containing protein 39

Gene

LRRC39

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

Functioni

Component of the sarcomeric M-band which plays a role in myocyte response to biomechanical stress. May regulate expression of other M-band proteins via an SRF-dependent pathway. Important for normal contractile function in heart.By similarity

Keywordsi

Molecular functionMuscle protein

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat-containing protein 39Curated
Alternative name(s):
Myosin-interacting M-band-associated stress-responsive protein1 Publication
Short name:
Myomasp1 Publication
Gene namesi
Name:LRRC39
ORF Names:UNQ6500/PRO21368
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000122477.12.
HGNCiHGNC:28228. LRRC39.

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi127495.
OpenTargetsiENSG00000122477.
PharmGKBiPA142671527.

Polymorphism and mutation databases

BioMutaiLRRC39.
DMDMi74760781.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002325801 – 335Leucine-rich repeat-containing protein 39Add BLAST335

Proteomic databases

EPDiQ96DD0.
PaxDbiQ96DD0.
PeptideAtlasiQ96DD0.
PRIDEiQ96DD0.

PTM databases

iPTMnetiQ96DD0.
PhosphoSitePlusiQ96DD0.

Expressioni

Tissue specificityi

Highly expressed in skeletal muscle and heart. Not detected in other tissues tested.1 Publication

Gene expression databases

BgeeiENSG00000122477.
CleanExiHS_LRRC39.
GenevisibleiQ96DD0. HS.

Organism-specific databases

HPAiHPA028443.
HPA029724.

Interactioni

Subunit structurei

Interacts with MYH7 (via C-terminus).1 Publication

Protein-protein interaction databases

BioGridi126062. 12 interactors.
IntActiQ96DD0. 1 interactor.
STRINGi9606.ENSP00000344470.

Structurei

3D structure databases

ProteinModelPortaliQ96DD0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati84 – 105LRR 1Add BLAST22
Repeati107 – 128LRR 2Add BLAST22
Repeati130 – 151LRR 3Add BLAST22
Repeati153 – 176LRR 4Add BLAST24
Repeati177 – 197LRR 5Add BLAST21
Repeati200 – 221LRR 6Add BLAST22
Repeati223 – 244LRR 7Add BLAST22
Repeati246 – 267LRR 8Add BLAST22
Repeati269 – 290LRR 9Add BLAST22

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili10 – 47Sequence analysisAdd BLAST38

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi294 – 299Poly-Glu6

Keywords - Domaini

Coiled coil, Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOGENOMiHOG000065739.
HOVERGENiHBG101376.
InParanoidiQ96DD0.
OMAiCMEEMTN.
OrthoDBiEOG091G0CW0.
PhylomeDBiQ96DD0.
TreeFamiTF333627.

Family and domain databases

Gene3Di3.80.10.10. 3 hits.
InterProiView protein in InterPro
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR025875. Leu-rich_rpt_4.
IPR003591. Leu-rich_rpt_typical-subtyp.
PfamiView protein in Pfam
PF12799. LRR_4. 1 hit.
PF13855. LRR_8. 2 hits.
SMARTiView protein in SMART
SM00369. LRR_TYP. 6 hits.
PROSITEiView protein in PROSITE
PS51450. LRR. 7 hits.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q96DD0-1) [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
MTENVVCTGA VNAVKEVWEK RIKKLNEDLK REKEFQHKLV RIWEERVSLT
60 70 80 90 100
KLREKVTRED GRVILKIEKE EWKTLPSSLL KLNQLQEWQL HRTGLLKIPE
110 120 130 140 150
FIGRFQNLIV LDLSRNTISE IPPGIGLLTR LQELILSYNK IKTVPKELSN
160 170 180 190 200
CASLEKLELA VNRDICDLPQ ELSNLLKLTH LDLSMNDFTT IPLAVLNMPA
210 220 230 240 250
LEWLDMGSNK LEQLPDTIER MQNLHTLWLQ RNEITCLPQT ISNMKNLGTL
260 270 280 290 300
VLSNNKLQDI PVCMEEMANL RFVNFRDNPL KLKVSLPPSE GTDEEEEREL
310 320 330
FGLQFMHTYI QESRRRADHQ VNGSTTLPIS INTDG
Length:335
Mass (Da):38,793
Last modified:December 1, 2001 - v1
Checksum:iBAACA9D75FE5B7A3
GO
Isoform 2 (identifier: Q96DD0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     318-335: DHQVNGSTTLPISINTDG → ALQFCVCHGQILTIYTCMALEI

Note: No experimental confirmation available.
Show »
Length:339
Mass (Da):39,395
Checksum:i6E2C4918F41D4B00
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034087121I → L. Corresponds to variant dbSNP:rs34920283Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017913318 – 335DHQVN…INTDG → ALQFCVCHGQILTIYTCMAL EI in isoform 2. CuratedAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358131 mRNA. Translation: AAQ88498.1.
AK096892 mRNA. Translation: BAG53394.1.
AL445928 Genomic DNA. Translation: CAH72253.1.
AL445928 Genomic DNA. Translation: CAH72254.1.
CH471097 Genomic DNA. Translation: EAW72965.1.
CH471097 Genomic DNA. Translation: EAW72966.1.
CH471097 Genomic DNA. Translation: EAW72968.1.
CH471097 Genomic DNA. Translation: EAW72969.1.
BC009613 mRNA. Translation: AAH09613.1.
CCDSiCCDS58014.1. [Q96DD0-2]
CCDS766.1. [Q96DD0-1]
RefSeqiNP_001243314.1. NM_001256385.1. [Q96DD0-2]
NP_001243315.1. NM_001256386.1. [Q96DD0-1]
NP_001243316.1. NM_001256387.1. [Q96DD0-1]
NP_653221.1. NM_144620.3. [Q96DD0-1]
UniGeneiHs.44277.
Hs.729095.

Genome annotation databases

EnsembliENST00000342895; ENSP00000344470; ENSG00000122477. [Q96DD0-1]
ENST00000370137; ENSP00000359156; ENSG00000122477. [Q96DD0-1]
ENST00000370138; ENSP00000359157; ENSG00000122477. [Q96DD0-2]
ENST00000620882; ENSP00000480740; ENSG00000122477. [Q96DD0-2]
GeneIDi127495.
KEGGihsa:127495.
UCSCiuc001dsw.3. human. [Q96DD0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLRC39_HUMAN
AccessioniPrimary (citable) accession number: Q96DD0
Secondary accession number(s): B3KUD2, D3DT56, Q5VVK7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: December 1, 2001
Last modified: October 25, 2017
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 chromosome 1
    Human chromosome 1: 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