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LMBRD1 [lysosomal membrane]
Stable Identifier
R-HSA-2980937
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal membrane
Synonyms
Probable lysosomal cobalamin transporter, LMBD1_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Defects in vitamin and cofactor metabolism (Homo sapiens)
Defects in cobalamin (B12) metabolism (Homo sapiens)
Defective ABCD4 causes MAHCJ (Homo sapiens)
Defective ABCD4:LMBRD1 does not transport Cbl from lysosomal lumen to cytosol (Homo sapiens)
ABCD4 mutant:LBRD1 complexes [lysosomal membrane] (Homo sapiens)
ABCD4 E583Lfs*9:LMBRD1 [lysosomal membrane] (Homo sapiens)
LMBRD1 [lysosomal membrane] (Homo sapiens)
ABCD4 Y319C:LMBRD1 [lysosomal membrane] (Homo sapiens)
LMBRD1 [lysosomal membrane] (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
ABC transporter disorders (Homo sapiens)
Defective ABCD4 causes MAHCJ (Homo sapiens)
Defective ABCD4:LMBRD1 does not transport Cbl from lysosomal lumen to cytosol (Homo sapiens)
ABCD4 mutant:LBRD1 complexes [lysosomal membrane] (Homo sapiens)
ABCD4 E583Lfs*9:LMBRD1 [lysosomal membrane] (Homo sapiens)
LMBRD1 [lysosomal membrane] (Homo sapiens)
ABCD4 Y319C:LMBRD1 [lysosomal membrane] (Homo sapiens)
LMBRD1 [lysosomal membrane] (Homo sapiens)
Metabolism (Homo sapiens)
Metabolism of vitamins and cofactors (Homo sapiens)
Metabolism of water-soluble vitamins and cofactors (Homo sapiens)
Cobalamin (Cbl, vitamin B12) transport and metabolism (Homo sapiens)
Transport of RCbl within the body (Homo sapiens)
ABCD4:LMBRD1 transports RCbl from lysosomal lumen to cytosol (Homo sapiens)
ABCD4:LMBRD1 [lysosomal membrane] (Homo sapiens)
LMBRD1 [lysosomal membrane] (Homo sapiens)
Uptake of dietary cobalamins into enterocytes (Homo sapiens)
ABCD4:LMBRD1 transports RCbl from lysosomal lumen to cytosol (gut mucosal cells) (Homo sapiens)
ABCD4:LMBRD1 [lysosomal membrane] (Homo sapiens)
LMBRD1 [lysosomal membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9NUN5 LMBRD1
Gene Names
LMBRD1, C6orf209, NESI, BM-021, CD001, MSTP044
Chain
chain:1-540
Reference Genes
BioGPS Gene:55788 LMBRD1
COSMIC (genes):LMBRD1 LMBRD1
CTD Gene:55788 LMBRD1
dbSNP Gene:55788 LMBRD1
ENSEMBL:ENSG00000168216 LMBRD1
HGNC:23038 LMBRD1
KEGG:hsa:55788 LMBRD1
Monarch:55788 LMBRD1
NCBI Gene:55788 LMBRD1
OMIM:612625 LMBRD1
UCSC:Q9NUN5 LMBRD1
Reference Transcript
RefSeq:XM_011535941.1 LMBRD1
RefSeq:NM_018368.3 LMBRD1
Other Identifiers
11725035_s_at
17020620
218191_PM_s_at
218191_s_at
2960023
2960024
2960025
2960026
2960027
2960028
2960029
2960031
2960041
2960042
2960043
2960044
2960045
2960046
2960047
2960048
2960059
2960061
2960062
2960065
2960066
2960072
2960074
2960078
2960079
2960082
2960083
2960084
2960085
2960086
2960087
2960088
2960089
2960092
2960096
2960097
2960098
48651_at
55788
8127425
A_23_P81660
A_33_P3359115
GE88467
GE88468
GO:0005158
GO:0005215
GO:0005515
GO:0005764
GO:0005765
GO:0005773
GO:0005783
GO:0005789
GO:0005886
GO:0006897
GO:0007369
GO:0016020
GO:0016192
GO:0030136
GO:0031410
GO:0031419
GO:0032050
GO:0035612
GO:0038016
GO:0043226
GO:0043231
GO:0045334
GO:0061462
GO:0072583
GO:0140318
HMNXSV003049544
ILMN_1652128
PH_hs_0025749
TC06001854.hg
g8922955_3p_s_at
Participates
as a component of
ABCD4 E583Lfs*9:LMBRD1 [lysosomal membrane] (Homo sapiens)
ABCD4 Y319C:LMBRD1 [lysosomal membrane] (Homo sapiens)
ABCD4:LMBRD1 [lysosomal membrane] (Homo sapiens)
Inferred To
LMBRD1 [lysosomal membrane]
(Bos taurus)
LMBRD1 [lysosomal membrane]
(Canis familiaris)
LMBRD1 [lysosomal membrane]
(Gallus gallus)
LMBRD1 [lysosomal membrane]
(Sus scrofa)
Lmbrd1 [lysosomal membrane]
(Mus musculus)
lmbrd1 [lysosomal membrane]
(Dictyostelium discoideum)
Cross References
RefSeq
XP_011534243.1
,
NP_060838.3
ENSEMBL
ENST00000650107
,
ENST00000649934
,
ENSP00000497690
,
ENSP00000496784
,
ENSP00000497302
,
ENSP00000497487
,
ENSP00000497124
,
ENSP00000498178
,
ENSP00000497135
,
ENSP00000497387
,
ENSP00000498034
,
ENST00000370570
,
ENSG00000168216
,
ENST00000648394
,
ENSP00000359602
,
ENST00000648168
,
ENST00000650035
,
ENSP00000497703
,
ENST00000647964
,
ENST00000649028
,
ENST00000648743
,
ENST00000649679
,
ENST00000649918
OpenTargets
ENSG00000168216
GeneCards
LMBRD1
HPA
ENSG00000168216-LMBRD1
PRO
Q9NUN5
Pharos - Targets
Q9NUN5
Orphanet
LMBRD1
HMDB Protein
HMDBP11804
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