LRRC53 (leucine rich repeat containing 53)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 105378803
Gene name Leucine rich repeat containing 53
Gene symbol LRRC53
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p31.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IBA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NM62
Protein name Leucine-rich repeat-containing protein 53
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 34 → 93 Leucine rich repeat Repeat
PF13855 LRR_8 95 → 143 Leucine rich repeat Repeat
PF13855 LRR_8 131 → 193 Leucine rich repeat Repeat
Sequence 
MLRLVAACPESCVVCTKDVTLCHQLTYIVAAPMTTRVLIITDGYLSSIESTNLSLLFNLA
LLSLSRNGIEDVQEDALHGLTMLRTLLLEHNQISSSSLTDHTFSKLHSLQVLVLSNNALR
TLRGSWFRNTSGLTRLQLDGNQITNLTDSSFGGTNLHSLRYLDLSNNFISYIGKDAFRPL
PQLQEVDLSRNRLAHMPDVFTPLKQLILLSLDKNQWSCTCDLHPLARFLRNYIKSSAHTL
RNAKDLNCQPSTAAVAAAQSVLRLSETNCDSKAPNFTLVLKDRSPLLPGPDVALLTVLGF
AGAVGLTCLGLVVFNWKLHQGKANEHTSENLCCRTFDEPLCAHEARNYHTKGYCNCHLTQ
ENEIKVMSTVGSRKEMPLLQENSHQATSASESATLDGSFRNLKKKDRGVGSTLFCQDGRL
LHSECSEPPGNMRAFNEAGLLTTYNPRKVQKLWNLEPGEVQPQTLQHHIIRTEDISSDIF
RRRYATPASALAGESLEKRLTNESWQPPIEKEDNGLHPHRQRHFITSSSSKPCEPEEHYV
QKIVQKNRSKYDDPCGLLKQSKPRYFQPNNSLICKYVPCEQFEDYMKEKKPNRRQHSKPE
KEQIQINSAIEKFLMSEDNIDLSGLSTKTKKAYSPKRVIFHDPDLVEINRSMMSPKISTP
WKRQKNQSNQLTKLDVKKFSNTGERNKGEKWFTNSWVLKRKRTPQSDLKGKIKGQNLKLN
LHPFRKVRVHPEKSLSSLPKQCKQVLLPPKKLSKTSETEAKINTVCSADFLQQSESSNYV
RLTSKRLPLKHDSKQTPYYQRNTKRAPLLSANNLRVVNQSSIESSCYSAGHIPDGNTSKL
PQPTPTDAEHRHSHSQFSTEQMEDATQLESKVLSYLATTWENTGSDVLPFQHSRRATDQG
TTESTEHMGQNVSKTSELNQFSLSPRNQTQLLDAHKTDSYNKEYTLDQNEALQHREQNSS
HAQLENKEKTLMTKPQISHQIVENCIMDKEENDVEKKLSKTETYDSSLIPQTQSKNNLSF
MKTNSIPYQNRIELPKDISTSPVSSQAVWHLTNSSEKGIDSTNALPRNDGTEALEIKIVG
KEEKNMLDESKTDSSMLTQISQMTLKGITKERQQTWENGTSEKYILHDASSAEETITAKD
LSITSSHETQNRILCSEVDPEVNSNVHNFREVQNIQPDKDSAHKEGAMTVETHEALSFLP
GLKDSFEAENEVFLVPSRINEAENSAPKPVLYPPSAEYATTSPLETE
Sequence length 1247
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Obesity Obesity GWASDB_DG 22484627
★★★★★
★☆☆☆☆
Found in Text Mining only