InnateDB Protein
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IDBP-91838.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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LMBRD1
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Protein Name
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LMBR1 domain containing 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000359602
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InnateDB Gene
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IDBG-91834 (LMBRD1)
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Protein Structure
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Function |
Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors. Isoform 3 may play a role in the assembly of hepatitis delta virus (HDV). {ECO:0000269PubMed:15956556, ECO:0000269PubMed:19136951}.
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Subcellular Localization |
Lysosome membrane {ECO:0000269PubMed:19136951}; Multi-pass membrane protein {ECO:0000269PubMed:19136951}.
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Disease Associations |
Methylmalonic aciduria and homocystinuria type cblF (MMAHCF) [MIM:277380]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12. {ECO:0000269PubMed:19136951}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Isoform 3 is expressed in liver. {ECO:0000269PubMed:15956556}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR006876
LMBR1-like membrane protein
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PFAM |
PF04791
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NUN5
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PhosphoSite |
PhosphoSite-Q9NUN5
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
55788
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UniGene |
Hs.629945
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RefSeq |
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HUGO |
HGNC:23038
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OMIM |
612625
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CCDS |
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HPRD |
12877
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IMGT |
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EMBL |
AF113224
AF208863
AF211480
AK002102
AK290069
AL358133
AL583831
AL590702
AY136817
BC010360
BC047073
CH471051
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GenPept |
AAF64277
AAG39295
AAH10360
AAH47073
AAK26247
AAN11301
BAA92087
BAF82758
CAH74081
CAH74083
CAI16835
CAI16836
CAI17314
CAI17316
EAW48832
EAW48833
EAW48835
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