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Protein

Leucine-rich repeat-containing protein 39

Gene

LRRC39

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
neXtProtiNX_Q96DD0

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

PaxDbiQ96DD0
PeptideAtlasiQ96DD0
PRIDEiQ96DD0
ProteomicsDBi76280
76281 [Q96DD0-2]

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 Expressed in 138 organ(s), highest expression level in deltoid
CleanExiHS_LRRC39
GenevisibleiQ96DD0 HS

Organism-specific databases

HPAiHPA077159

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
MYH7P128833EBI-9539130,EBI-519141

Protein-protein interaction databases

BioGridi126062, 12 interactors
IntActiQ96DD0, 5 interactors
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
OMAiMHAYIQE
OrthoDBiEOG091G0CW0
PhylomeDBiQ96DD0
TreeFamiTF333627

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR001611 Leu-rich_rpt
IPR025875 Leu-rich_rpt_4
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
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 No translation available.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358131 mRNA Translation: AAQ88498.1
AK096892 mRNA Translation: BAG53394.1
AL445928 Genomic DNA No translation available.
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

3D structure databases

ProteinModelPortaliQ96DD0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126062, 12 interactors
IntActiQ96DD0, 5 interactors
STRINGi9606.ENSP00000344470

PTM databases

iPTMnetiQ96DD0
PhosphoSitePlusiQ96DD0

Polymorphism and mutation databases

BioMutaiLRRC39
DMDMi74760781

Proteomic databases

PaxDbiQ96DD0
PeptideAtlasiQ96DD0
PRIDEiQ96DD0
ProteomicsDBi76280
76281 [Q96DD0-2]

Protocols and materials databases

DNASUi127495
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi127495
DisGeNETi127495
EuPathDBiHostDB:ENSG00000122477.12
GeneCardsiLRRC39
HGNCiHGNC:28228 LRRC39
HPAiHPA077159
neXtProtiNX_Q96DD0
OpenTargetsiENSG00000122477
PharmGKBiPA142671527
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00840000129686
HOGENOMiHOG000065739
HOVERGENiHBG101376
InParanoidiQ96DD0
OMAiMHAYIQE
OrthoDBiEOG091G0CW0
PhylomeDBiQ96DD0
TreeFamiTF333627

Miscellaneous databases

ChiTaRSiLRRC39 human
GeneWikiiLRRC39
GenomeRNAii127495
PROiPR:Q96DD0

Gene expression databases

BgeeiENSG00000122477 Expressed in 138 organ(s), highest expression level in deltoid
CleanExiHS_LRRC39
GenevisibleiQ96DD0 HS

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR001611 Leu-rich_rpt
IPR025875 Leu-rich_rpt_4
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
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
ProtoNetiSearch...

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: November 7, 2018
This is version 137 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
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Main funding by: National Institutes of Health

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