SURF1 (SURF1 cytochrome c oxidase assembly factor)

2007-04-01  

Identity

HGNC
SURF1
LOCATION
9q34.2
LOCUSID
6834
ALIAS
CMT4K,MC4DN1,SHY1

Other Information

Locus ID:

NCBI: 6834
MIM: 185620
HGNC: 11474
Ensembl: ENSG00000148290

Variants:

dbSNP: 6834
ClinVar: 6834
TCGA: ENSG00000148290
COSMIC: SURF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148290ENST00000371974Q15526
ENSG00000148290ENST00000371974E5KRX5
ENSG00000148290ENST00000615505A0A087WYS9

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206016762010Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.50
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
146078292004Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1.42
160834272005Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.35
192951702009Loss of function of Sco1 and its interaction with cytochrome c oxidase.34
157646052005Assembly of cytochrome-c oxidase in the absence of assembly protein Surf1p leads to loss of the active site heme.33
196252512009Surf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
125387792003Mutation screening in patients with isolated cytochrome c oxidase deficiency.14

Citation

Dessen P

SURF1 (SURF1 cytochrome c oxidase assembly factor)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46853/surf1