SCO1_HUMAN » Protein SCO1 homolog, mitochondrial

SCO1_HUMAN » Protein SCO1 homolog, mitochondrial
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Topology in Mitochondrial inner membrane
Topologyintermembrane space
mitochondrial matrix side
SCO1_HUMAN » Protein SCO1 homolog, mitochondrial »
Hydrophobic Thickness 22.8 ± 2.0 Å
Tilt Angle 0 ± 2°
ΔGtransfer -26.2 kcal/mol
ΔGfold -10.1 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology In
TM Segments 95-115 (92-121)
Pathways none
PDB 2hrn (132-301), 2hrf (132-301), 2gvp (132-301), 2gt6 (132-301), 2gt5 (132-301), 2gqm (132-301), 2gql (132-301), 2gqk (132-301), 2ggt (135-298), 1wp0 (138-301)
OPM none
Complexes none
Interactions none
Domains

AA: 100-282, PDBID: 1WP0, Subunit C, Seq Identity:100%, SCO1/SenC

UniProt annotation for SCO1_HUMAN » Protein SCO1 homolog, mitochondrial
FUNCTION: Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX.

SUBUNIT: Homodimer.

TISSUE SPECIFICITY: Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain.

DISEASE: Mitochondrial complex IV deficiency (MT-C4D) OMIM: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. mutations affecting the gene represented in this entry.

UniProt features for SCO1_HUMAN » Protein SCO1 homolog, mitochondrial
TRANSIT 1 ? Mitochondrion.
CHAIN ? 301 Protein SCO1 homolog, mitochondrial.
REGION 118 131 Important for dimerization.
Amino Acid Sequence for SCO1_HUMAN » Protein SCO1 homolog, mitochondrial
MAMLVLVPGR VMRPLGGQLW RFLPRGLEFW GPAEGTARVL LRQFCARQAE AWRASGRPGY CLGTRPLSTA RPPPPWSQKG PGDSTRPSKP GPVSWKSLAI TFAIGGALLA GMKHVKKEKA EKLEKERQRH IGKPLLGGPF SLTTHTGERK TDKDYLGQWL LIYFGFTHCP DVCPEELEKM IQVVDEIDSI TTLPDLTPLF ISIDPERDTK EAIANYVKEF SPKLVGLTGT REEVDQVARA YRVYYSPGPK DEDEDYIVDH TIIMYLIGPD GEFLDYFGQN KRKGEIAASI ATHMRPYRKK S