SCP2
entrez
6342
canonical
uniprot
P22307
canonical
ensembl
ENSG00000116171
resolver
ensp
ENSP00000360564
resolver
ensp
ENSP00000360568
resolver
ensp
ENSP00000360569
resolver
ensp
ENSP00000384569
resolver
ensp
ENSP00000386214
resolver
ensp
ENSP00000396413
resolver
ensp
ENSP00000406636
resolver
ensp
ENSP00000434132
resolver
ensp
ENSP00000435194
resolver
ensp
ENSP00000649548
resolver
ensp
ENSP00000649552
resolver
ensp
ENSP00000716499
resolver
enst
ENST00000478631
resolver
genesymbol
SCP2
resolver
hgnc
HGNC:10606
resolver
uniprot
A0A384NY87
resolver
uniprot
A6NM69
resolver
uniprot
B2R761
resolver
uniprot
B4DGJ9
resolver
uniprot
B4DHP6
resolver
uniprot
C9JC79
resolver
uniprot
D3DQ37
resolver
uniprot
E1B6W5
resolver
uniprot
E9PLD1
resolver
uniprot
F2Z3J1
resolver
uniprot
Q15432
resolver
uniprot
Q16622
resolver
uniprot
Q59HG9
resolver
uniprot
Q5VVZ1
resolver
uniprot
Q6NXF4
resolver
uniprot
Q99430
resolver
uniprot_entry
A0A384NY87_HUMAN
resolver
uniprot_entry
B2R761_HUMAN
resolver
uniprot_entry
E9PLD1_HUMAN
resolver
uniprot_entry
Q59HG9_HUMAN
resolver
uniprot_entry
SCP2_HUMAN
resolver
uniprot_sec
A6NM69
resolver
uniprot_sec
B4DGJ9
resolver
uniprot_sec
B4DHP6
resolver
uniprot_sec
C9JC79
resolver
uniprot_sec
D3DQ37
resolver
uniprot_sec
E1B6W5
resolver
uniprot_sec
F2Z3J1
resolver
uniprot_sec
Q15432
resolver
uniprot_sec
Q16622
resolver
uniprot_sec
Q5VVZ1
resolver
uniprot_sec
Q6NXF4
resolver
uniprot_sec
Q99430
resolver
amino_acid_sequence
MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGKKALADAQIPYSAVDQACVGYVFGDSTCGQRAIYHSLGMTGIPIINVNNNCATGSTALFMARQLIQGGVAECVLALGFEKMSKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAPQMFGYAGKEHMEKYGTKIEHFAKIGWKNHKHSVNNPYSQFQDEYSLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEAFVQKYGLQSKAVEILAQEMMTDLPSSFEEKSIIKMVGFDMSKEAARKCYEKSGLTPNDIDVIELHDCFSTNELLTYEALGLCPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGATGLAQCAELCWQLRGEAGKRQVPGAKVALQHNLGIGGAVVVTLYKMGFPEAASSFRTHQIEAVPTSSASDGFKANLVFKEIEKKLEEEGEQFVKKIGGIFAFKVKDGPGGKEATWVVDVKNGKGSVLPNSDKKADCTITMADSDFLALMTGKMNPQSAFFQGKLKITGNMGLAMKLQNLQLQPGNAKL
uniprot
proteins
disease_involvement
DISEASE: Leukoencephalopathy with dystonia and motor neuropathy (LKDMN) [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:0000269|PubMed:16685654}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Expression at protein level is almost abolished in Zellweger syndrome. Cholesterol transfer from the endoplasmic reticulum to the plasma membrane was reduced in patient fibroblasts compared to controls. {ECO:0000269|PubMed:7642518}.
uniprot
proteins
ec_number
2.3.1.155
uniprot
proteins
ec_number
2.3.1.16
uniprot
proteins
ec_number
2.3.1.176
uniprot
proteins
function
FUNCTION: [Isoform SCPx]: Plays a crucial role in the peroxisomal oxidation of branched-chain fatty acids (PubMed:10706581). Catalyzes the last step of the peroxisomal beta-oxidation of branched chain fatty acids and the side chain of the bile acid intermediates di- and trihydroxycoprostanic acids (DHCA and THCA) (PubMed:10706581). Also active with medium and long straight chain 3-oxoacyl-CoAs. Stimulates the microsomal conversion of 7-dehydrocholesterol to cholesterol and transfers phosphatidylcholine and 7-dehydrocholesterol between membrances, in vitro (By similarity). Isoforms SCP2 and SCPx cooperate in peroxisomal oxidation of certain naturally occurring tetramethyl-branched fatty acyl-CoAs (By similarity). {ECO:0000250|UniProtKB:P11915, ECO:0000250|UniProtKB:P32020, ECO:0000269|PubMed:10706581}.; FUNCTION: [Isoform SCP2]: Mediates the transfer of all common phospholipids, cholesterol and gangliosides from the endoplasmic reticulum to the plasma membrane. May play a role in regulating steroidogenesis (PubMed:17157249, PubMed:7642518, PubMed:8300590). Stimulates the microsomal conversion of 7-dehydrocholesterol to cholesterol (By similarity). Also binds fatty acids and fatty acyl Coenzyme A (CoA) such as phytanoyl-CoA. Involved in the regulation phospholipid synthesis in endoplasmic reticulum enhancing the incorporation of exogenous fatty acid into glycerides. Seems to stimulate the rate-limiting step in phosphatidic acid formation mediated by GPAT3. Isoforms SCP2 and SCPx cooperate in peroxisomal oxidation of certain naturally occurring tetramethyl-branched fatty acyl-CoAs (By similarity). {ECO:0000250|UniProtKB:P11915, ECO:0000250|UniProtKB:P32020, ECO:0000269|PubMed:17157249, ECO:0000269|PubMed:7642518, ECO:0000269|PubMed:8300590}.
uniprot
proteins
mass_dalton
58994
uniprot
proteins
mutagenesis
MUTAGEN 528; /note="N->D: Strongly reduces sterol carrier and phosphatidylcholine transfer activity; when associated with D-530."; /evidence="ECO:0000269|PubMed:8300590"; MUTAGEN 528; /note="N->I: Strongly reduces sterol carrier and phosphatidylcholine transfer activity."; /evidence="ECO:0000269|PubMed:8300590"; MUTAGEN 530; /note="G->D: Strongly reduces sterol carrier and phosphatidylcholine transfer activity; when associated with D-528."; /evidence="ECO:0000269|PubMed:8300590
uniprot
proteins
post_translational_modification
PTM: [Isoform SCP2]: preSCP2, a protein with a molecular mass of about 15 kDa, is processed into its mature form (SCP2) by proteolytic cleavage of a 20 residue leader sequence after translocation into peroxisomes. {ECO:0000250|UniProtKB:O62742}.
uniprot
proteins
protein_family
Thiolase family
uniprot
proteins
protein_family
Thiolase-like superfamily
uniprot
proteins
pubmed
10706581
uniprot
proteins
pubmed
14563822
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1483685
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16685654
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
1703300
uniprot
proteins
pubmed
17157249
uniprot
proteins
pubmed
1718316
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7642518
uniprot
proteins
pubmed
7698762
uniprot
proteins
pubmed
8243660
uniprot
proteins
pubmed
8300590
uniprot
proteins
sequence_length
547
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform SCP2]: Peroxisome {ECO:0000250|UniProtKB:P32020}. Cytoplasm {ECO:0000269|PubMed:10706581, ECO:0000269|PubMed:17157249}. Mitochondrion {ECO:0000269|PubMed:17157249}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P32020}. Mitochondrion {ECO:0000250|UniProtKB:P32020}.; SUBCELLULAR LOCATION: [Isoform SCPx]: Peroxisome {ECO:0000250|UniProtKB:P11915}.
uniprot
proteins