UQCC1

This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Description

Ubiquinol-cytochrome c reductase complex assembly factor 1

Tissue specificity

Tissue enhanced (skeletal muscle)

Subcell location

Nucleoplasm, Plasma membrane, Actin filaments

Predicted location

Intracellular, Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

20 (35302566 - 35412031)

Ensembl ID

ENSG00000101019  (ver. 103.38)

Orthologs

Mouse Uqcc1: ENSMUSG00000005882

UniProt

Q9NVA1

neXtProt

NX_Q9NVA1

Human splice variants
Mouse splice variants

Protein structure