InnateDB Protein
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IDBP-384412.5
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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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SCP2
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Protein Name
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sterol carrier protein 2
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Synonyms
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NLTP; NSL-TP; SCP-2; SCP-CHI; SCP-X; SCPX;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000396413
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InnateDB Gene
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IDBG-98680 (SCP2)
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Protein Structure
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Function |
Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis. {ECO:0000269PubMed:17157249, ECO:0000269PubMed:8300590}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:17157249}. Mitochondrion {ECO:0000269PubMed:17157249}. Note=Cytoplasmic in the liver and also associated with mitochondria especially in steroidogenic tissues.Isoform SCPx: Peroxisome. Note=Interaction with PEX5 is essential for peroxisomal import.Isoform SCP2: Mitochondrion {ECO:0000305}.
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Disease Associations |
Leukoencephalopathy, with dystonia and motor neuropathy (LDMN) [MIM:613724]: A syndrome characterized by leukoencephalopathy, dystonic head tremor, spasmodic torticollis and reduced tendon reflexes in lower extremities. Additional features include hyposmia, pathologic saccadic eye movements, a slight hypoacusis, accumulation of branched-chain pristanic acid in plasma, and the presence of abnormal bile alcohol glucuronides in urine. {ECO:0000269PubMed:16685654}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Liver, fibroblasts, and placenta.
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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 34 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
34
[view]
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Protein-Protein |
34
[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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Predicted by orthology |
Total |
2 [view]
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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 |
IPR003033
SCP2 sterol-binding domain
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PFAM |
PF02036
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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 |
P22307
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PhosphoSite |
PhosphoSite-P22307
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6342
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UniGene |
Hs.476365
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RefSeq |
NP_001007100
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HUGO |
HGNC:10606
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OMIM |
184755
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CCDS |
CCDS44149
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HPRD |
01700
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IMGT |
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EMBL |
AC099677
AK294631
AK295214
AK308105
AL445183
BC005911
BC067108
CB997588
CH471059
CR995014
M55421
M75883
M75884
S52450
U11297
U11299
U11300
U11301
U11302
U11303
U11304
U11305
U11306
U11307
U11308
U11309
U11310
U11311
U11312
U11313
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GenPept |
AAA03557
AAA03558
AAA03559
AAB24921
AAB41286
AAH05911
AAH67108
BAG57810
BAG58208
CAH72590
EAX06760
EAX06761
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