Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
740
Gene name Gene Name - the full gene name approved by the HGNC.
Mitochondrial ribosomal protein L49
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MRPL49
Synonyms (NCBI Gene) Gene synonyms aliases
C11orf4, COXPD60, L49mt, MRP-L49, NOF, NOF1, mL49
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% prot
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022214 hsa-miR-124-3p Microarray 18668037
MIRT038871 hsa-miR-93-3p CLASH 23622248
MIRT649011 hsa-miR-888-5p HITS-CLIP 23824327
MIRT649010 hsa-miR-6808-5p HITS-CLIP 23824327
MIRT649008 hsa-miR-6893-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003735 Function Structural constituent of ribosome IBA 21873635
GO:0005515 Function Protein binding IPI 20601428, 32814053
GO:0005739 Component Mitochondrion IDA 28892042
GO:0005743 Component Mitochondrial inner membrane TAS
GO:0005761 Component Mitochondrial ribosome IDA 20601428
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606866 1176 ENSG00000149792
Protein
UniProt ID Q13405
Protein name Large ribosomal subunit protein mL49 (39S ribosomal protein L49, mitochondrial) (L49mt) (MRP-L49) (Neighbor of FAU) (NOF) (Protein NOF1)
PDB 3J7Y , 3J9M , 5OOL , 5OOM , 6I9R , 6NU2 , 6NU3 , 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5H , 7A5I , 7A5J , 7A5K , 7L08 , 7L20 , 7O9K , 7O9M , 7ODR , 7ODS , 7ODT , 7OF0 , 7OF2 , 7OF3 , 7OF4 , 7OF5 , 7OF6 , 7OF7 , 7OG4 , 7OI6 , 7OI7 , 7OI8 , 7OI9 , 7OIA , 7OIB , 7OIC , 7OID , 7OIE , 7PD3 , 7PO4 , 7QH6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05046 Img2 82 166 Mitochondrial large subunit ribosomal protein (Img2) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MAATMFRATLRGWRTGVQRGCGLRLLSQTQGPPDYPRFVESVDEYQFVERLLPATRIPDP
PKHEHYPTPSGWQPPRDPPPNLPYFVRRSRMHNIPVYKDITHGNRQMTVIRKVEGDIWAL
QKDVEDFLSPLLGKTPVTQVNEVTGTLRIKGYFDQELKAWLLEKGF
Sequence length 166
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Mitochondrial translation elongation
Mitochondrial translation termination
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340
View all (64 more)
22535842
Unknown
Disease term Disease name Evidence References Source
Acne Acne GWAS
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 26072495
Combined Oxidative Phosphorylation Deficiency 1 Associate 40043708
Gonadal dysgenesis XX type deafness Associate 40043708
Hearing Loss Sensorineural Associate 40043708
Learning Disabilities Associate 40043708
Leukemia Myeloid Acute Associate 29781401
Leukodystrophy Metachromatic Associate 40043708
Microcephaly Associate 40043708
Ovarian Neoplasms Associate 40043708
Primary Ovarian Insufficiency Associate 40043708