BCS1L

Available protein structures:
Pfam	structures / ECOD
PDB	RCSB PDB; PDBe; PDBj
PDBsum	structure summary

BCS1 N-terminal domain
BCS1 N-terminal domain
Identifiers
Symbol	BCS1_N
Pfam	PF08740
InterPro	IPR014851
Pfam
Available protein structures:
Pfam	structures / ECOD
PDB	RCSB PDB; PDBe; PDBj
PDBsum	structure summary

BCS1L
Identifiers
Aliases	BCS1L, BCS, BCS1, BJS, FLNMS, GRACILE, Hs.6719, MC3DN1, PTD, h-BCS, h-BCS1, BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
External IDs	OMIM: 603647; MGI: 1914071; HomoloGene: 3193; GeneCards: BCS1L; OMA:BCS1L - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	218,663,443 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	74,631,602 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; apex of heart; ; right uterine tube; ; right lobe of liver; ; mucosa of transverse colon; ; right adrenal gland; ; right adrenal cortex; ; right lobe of thyroid gland; ; body of stomach; ; right ovary;
	Top expressed in
	interventricular septum; ; soleus muscle; ; digastric muscle; ; sternocleidomastoid muscle; ; medial ganglionic eminence; ; myocardium of ventricle; ; right kidney; ; extraocular muscle; ; proximal tubule; ; granulocyte;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; protein binding; ATP binding;
Cellular component	mitochondrial respiratory chain complex III; mitochondrial inner membrane; integral component of membrane; membrane; mitochondrion;
Biological process	mitochondrion organization; mitochondrial respiratory chain complex III assembly; mitochondrial cytochrome c oxidase assembly; mitochondrial respiratory chain complex I assembly;
	Sources:Amigo / QuickGO
Orthologs
	617
	66821
	ENSG00000074582
	ENSMUSG00000026172
	Q9Y276
	Q9CZP5
NM_001079866; NM_001257342; NM_001257343; NM_001257344; NM_004328;
	NM_001318836; NM_001320717
	NM_025784; NM_001305652
NP_001073335; NP_001244271; NP_001244272; NP_001244273; NP_001305765;
	NP_001307646; NP_004319; NP_001358372; NP_001358373; NP_001358375; NP_001358376; NP_001358377; NP_001358378; NP_001358379; NP_001358380; NP_001358381; NP_001358382; NP_001358383; NP_001358384; NP_001358385; NP_001361014; NP_001361015
	NP_001292581; NP_080060
	Wikidata
View/Edit Human	View/Edit Mouse

Mitochondrial chaperone BCS1 is a protein that in humans is encoded by the BCS1L gene.^[5]^[6]^[7]

Template:PBB Summary

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000074582 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026172 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M (Feb 1999). "Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain". Genomics. 54 (3): 494–504. doi:10.1006/geno.1998.5580. PMID 9878253.
^ Hinson JT, Fantin VR, Schonberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE (Feb 2007). "Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome". N Engl J Med. 356 (8): 809–19. doi:10.1056/NEJMoa055262. PMID 17314340.
^ "Entrez Gene: BCS1L BCS1-like (yeast)".

BCS1L

See also

References

Further reading