UniProtKB - Q96DD0 (LRC39_HUMAN)
Protein
Leucine-rich repeat-containing protein 39
Gene
LRRC39
Organism
Homo sapiens (Human)
Status
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
GO - Molecular functioni
- protein serine/threonine phosphatase activity Source: GO_Central
GO - Biological processi
- signal transduction Source: GO_Central
Keywordsi
Molecular function | Muscle protein |
Enzyme and pathway databases
PathwayCommonsi | Q96DD0 |
Names & Taxonomyi
Protein namesi | Recommended name: Leucine-rich repeat-containing protein 39CuratedAlternative name(s): Myosin-interacting M-band-associated stress-responsive protein1 Publication Short name: Myomasp1 Publication |
Gene namesi | Name:LRRC39 ORF Names:UNQ6500/PRO21368 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28228, LRRC39 |
neXtProti | NX_Q96DD0 |
VEuPathDBi | HostDB:ENSG00000122477.12 |
Subcellular locationi
Other locations
- M line By similarity
Other locations
- cytoplasm Source: GO_Central
- intracellular membrane-bounded organelle Source: GO_Central
- M band Source: UniProtKB-SubCell
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Organism-specific databases
DisGeNETi | 127495 |
OpenTargetsi | ENSG00000122477 |
PharmGKBi | PA142671527 |
Miscellaneous databases
Pharosi | Q96DD0, Tdark |
Genetic variation databases
BioMutai | LRRC39 |
DMDMi | 74760781 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000232580 | 1 – 335 | Leucine-rich repeat-containing protein 39Add BLAST | 335 |
Proteomic databases
MassIVEi | Q96DD0 |
PaxDbi | Q96DD0 |
PeptideAtlasi | Q96DD0 |
PRIDEi | Q96DD0 |
ProteomicsDBi | 76280 [Q96DD0-1] 76281 [Q96DD0-2] |
PTM databases
iPTMneti | Q96DD0 |
PhosphoSitePlusi | Q96DD0 |
Expressioni
Tissue specificityi
Highly expressed in skeletal muscle and heart. Not detected in other tissues tested.1 Publication
Gene expression databases
Bgeei | ENSG00000122477, Expressed in deltoid and 157 other tissues |
Genevisiblei | Q96DD0, HS |
Organism-specific databases
HPAi | ENSG00000122477, Group enriched (heart muscle, skeletal muscle, tongue) |
Interactioni
Subunit structurei
Interacts with MYH7 (via C-terminus).
1 PublicationBinary interactionsi
Q96DD0
With | #Exp. | IntAct |
---|---|---|
MYH7 [P12883] | 3 | EBI-9539130,EBI-519141 |
Protein-protein interaction databases
BioGRIDi | 126062, 12 interactors |
IntActi | Q96DD0, 16 interactors |
STRINGi | 9606.ENSP00000480740 |
Miscellaneous databases
RNActi | Q96DD0, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 84 – 105 | LRR 1Add BLAST | 22 | |
Repeati | 107 – 128 | LRR 2Add BLAST | 22 | |
Repeati | 130 – 151 | LRR 3Add BLAST | 22 | |
Repeati | 153 – 176 | LRR 4Add BLAST | 24 | |
Repeati | 177 – 197 | LRR 5Add BLAST | 21 | |
Repeati | 200 – 221 | LRR 6Add BLAST | 22 | |
Repeati | 223 – 244 | LRR 7Add BLAST | 22 | |
Repeati | 246 – 267 | LRR 8Add BLAST | 22 | |
Repeati | 269 – 290 | LRR 9Add BLAST | 22 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 10 – 47 | Sequence analysisAdd BLAST | 38 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 294 – 299 | Poly-Glu | 6 |
Keywords - Domaini
Coiled coil, Leucine-rich repeat, RepeatPhylogenomic databases
eggNOGi | KOG0619, Eukaryota |
GeneTreei | ENSGT00940000158998 |
HOGENOMi | CLU_000288_18_8_1 |
InParanoidi | Q96DD0 |
OMAi | WETRIRR |
OrthoDBi | 1085197at2759 |
PhylomeDBi | Q96DD0 |
TreeFami | TF333627 |
Family and domain databases
Gene3Di | 3.80.10.10, 2 hits |
InterProi | View protein in InterPro IPR001611, Leu-rich_rpt IPR003591, Leu-rich_rpt_typical-subtyp IPR032675, LRR_dom_sf |
Pfami | View protein in Pfam PF13855, LRR_8, 2 hits |
SMARTi | View protein in SMART SM00369, LRR_TYP, 6 hits |
PROSITEi | View protein in PROSITE PS51450, LRR, 7 hits |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q96DD0-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_034087 | 121 | I → L. Corresponds to variant dbSNP:rs34920283Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017913 | 318 – 335 | DHQVN…INTDG → ALQFCVCHGQILTIYTCMAL EI in isoform 2. CuratedAdd BLAST | 18 |
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 |
CCDSi | CCDS58014.1 [Q96DD0-2] CCDS766.1 [Q96DD0-1] |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000342895; ENSP00000344470; ENSG00000122477 [Q96DD0-1] ENST00000370137; ENSP00000359156; ENSG00000122477 [Q96DD0-1] ENST00000370138; ENSP00000359157; ENSG00000122477 [Q96DD0-2] ENST00000620882; ENSP00000480740; ENSG00000122477 [Q96DD0-2] |
GeneIDi | 127495 |
KEGGi | hsa:127495 |
UCSCi | uc001dsw.3, human [Q96DD0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS58014.1 [Q96DD0-2] CCDS766.1 [Q96DD0-1] |
RefSeqi | NP_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] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 126062, 12 interactors |
IntActi | Q96DD0, 16 interactors |
STRINGi | 9606.ENSP00000480740 |
PTM databases
iPTMneti | Q96DD0 |
PhosphoSitePlusi | Q96DD0 |
Genetic variation databases
BioMutai | LRRC39 |
DMDMi | 74760781 |
Proteomic databases
MassIVEi | Q96DD0 |
PaxDbi | Q96DD0 |
PeptideAtlasi | Q96DD0 |
PRIDEi | Q96DD0 |
ProteomicsDBi | 76280 [Q96DD0-1] 76281 [Q96DD0-2] |
Protocols and materials databases
Antibodypediai | 33693, 178 antibodies |
DNASUi | 127495 |
Genome annotation databases
Ensembli | ENST00000342895; ENSP00000344470; ENSG00000122477 [Q96DD0-1] ENST00000370137; ENSP00000359156; ENSG00000122477 [Q96DD0-1] ENST00000370138; ENSP00000359157; ENSG00000122477 [Q96DD0-2] ENST00000620882; ENSP00000480740; ENSG00000122477 [Q96DD0-2] |
GeneIDi | 127495 |
KEGGi | hsa:127495 |
UCSCi | uc001dsw.3, human [Q96DD0-1] |
Organism-specific databases
CTDi | 127495 |
DisGeNETi | 127495 |
GeneCardsi | LRRC39 |
HGNCi | HGNC:28228, LRRC39 |
HPAi | ENSG00000122477, Group enriched (heart muscle, skeletal muscle, tongue) |
neXtProti | NX_Q96DD0 |
OpenTargetsi | ENSG00000122477 |
PharmGKBi | PA142671527 |
VEuPathDBi | HostDB:ENSG00000122477.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0619, Eukaryota |
GeneTreei | ENSGT00940000158998 |
HOGENOMi | CLU_000288_18_8_1 |
InParanoidi | Q96DD0 |
OMAi | WETRIRR |
OrthoDBi | 1085197at2759 |
PhylomeDBi | Q96DD0 |
TreeFami | TF333627 |
Enzyme and pathway databases
PathwayCommonsi | Q96DD0 |
Miscellaneous databases
BioGRID-ORCSi | 127495, 13 hits in 873 CRISPR screens |
ChiTaRSi | LRRC39, human |
GeneWikii | LRRC39 |
GenomeRNAii | 127495 |
Pharosi | Q96DD0, Tdark |
PROi | PR:Q96DD0 |
RNActi | Q96DD0, protein |
Gene expression databases
Bgeei | ENSG00000122477, Expressed in deltoid and 157 other tissues |
Genevisiblei | Q96DD0, HS |
Family and domain databases
Gene3Di | 3.80.10.10, 2 hits |
InterProi | View protein in InterPro IPR001611, Leu-rich_rpt IPR003591, Leu-rich_rpt_typical-subtyp IPR032675, LRR_dom_sf |
Pfami | View protein in Pfam PF13855, LRR_8, 2 hits |
SMARTi | View protein in SMART SM00369, LRR_TYP, 6 hits |
PROSITEi | View protein in PROSITE PS51450, LRR, 7 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LRC39_HUMAN | |
Accessioni | Q96DD0Primary (citable) accession number: Q96DD0 Secondary accession number(s): B3KUD2, D3DT56, Q5VVK7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 18, 2006 |
Last sequence update: | December 1, 2001 | |
Last modified: | February 10, 2021 | |
This is version 153 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports