Property Summary

NCBI Gene PubMed Count 45
PubMed Score 112.53
PubTator Score 106.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
Multiple myeloma 1.340 2.7e-04
psoriasis 1.100 2.2e-03
osteosarcoma 1.030 1.8e-03
intraductal papillary-mucinous adenoma (... 1.200 8.8e-04
ovarian cancer -1.400 3.7e-07

Protein-protein Interaction (1)

Gene RIF (27)

PMID Text
24027061 Mutations in the SURF1 gene are a cause of Charcot-Marie-Tooth disease.
22729384 This study suggested that hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.
22488715 Study identified 21 patients with clinical features of Leigh syndrome who are either homozygous or compound heterozygous for SURF1 mutations.
22465034 Analysis of fibroblast cell lines from 9 patients with SURF1 mutations revealed a 70% decrease of the COX complex content to be associated with 32-54% upregulation of respiratory chain complexes I, III and V and accumulation of Cox5a subunit.
22410471 sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20624914 Analysis of mutations in the SURF1 homolog Shy1 revealed Coa4, a new member of the cytochrome oxidase assembly factor family.
20601676 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20436434 mutations (574-575insCTGT, 311-321del10insAT and IVS8-1G>) were also frequent in the Russian population.
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19780766 The presence of a missense mutation in the SURF1 gene may correlate with a milder course and longer survival of Leigh patients.
19625251 a direct role of Surf1 in heme a cofactor insertion into COX subunit I by providing a protein-bound heme a pool.
19295170 SURF1-deficient samples analyzed showed a tissue-specific copper deficiency similar to that of SCO-deficient samples, suggesting a role for Surf1 in copper homeostasis regulation
18583168 Data show high prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.
18583168 Observational study of genotype prevalence. (HuGE Navigator)
17908801 Histological and histochemical features of muscle of genetically homogenous SURF1-deficient LS were reproducible in detection of COX deficit. SURF1-deficient muscle assessed in the microscopy panel may be interpreted as normal if COX staining is not used.
16083427 The consequences of SCO2 and SURF1 mutations suggest the existence of tissue-specific functional differences of these proteins that may serve different tissue-specific requirements for the regulation of COX biogenesis.
15764605 Surf1p plays a role in facilitating the insertion of heme a3 into the active site of cytochrome-c oxidase.
15214016 a SURF1 mutation may have a role in subacute encephalopathy
14607829 study points to a role for surfeit 1(SURF1) in promoting the association of cytochrome c oxidase II with the cytochrome c oxidase I.cytochrome c oxidase subunit 4.cytochrome c oxidase subunit 5A subassembly
14557577 Four pathogenic mutations including a novel, in-frame, 15-bp tandem duplication (806-820) in exon 8 and a novel 751+1G>A splice site mutation in SURF1 in three cases of Leigh Syndrome with cytochrome c oxidase deficiency
12812953 Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the brain.
12538779 Two novel pathogenic SURF1 mutations have been identified in a patient with Leigh syndrome.
12515039 new missense mutation of 574C>T in the SURF1 gene in Leigh's syndrome
11955926 Three novel mutations of the SURF-1 gene were identified in Japanese patients with cytochrome c oxidase deficiency; loss of function of the SURF-1 protein; cytochrome c oxidase activity was decreased to less than 20% of the control mean.

AA Sequence

MAAVAALQLGLRAAGLGRAPASAAWRSVLRVSPRPGVAWRPSRCGSSAAEASATKAEDDSFLQWVLLLIP      1 - 70
VTAFGLGTWQVQRRKWKLNLIAELESRVLAEPVPLPADPMELKNLEYRPVKVRGCFDHSKELYMMPRTMV     71 - 140
DPVREAREGGLISSSTQSGAYVVTPFHCTDLGVTILVNRGFVPRKKVNPETRQKGQIEGEVDLIGMVRLT    141 - 210
ETRQPFVPENNPERNHWHYRDLEAMARITGAEPIFIDANFQSTVPGGPIGGQTRVTLRNEHLQYIVTWYG    211 - 280
LSAATSYLWFKKFLRGTPGV                                                      281 - 300
//

Text Mined References (50)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26321642 2015 MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24027061 2013 SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
23260140 2012 MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation.
22729384 2013 Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.
22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.
22465034 2012 Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.
22410471 2012 Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.
21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
20888800 2010 Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20624914 2010 Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family.
20601676 2010 Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.
20436434 2010 [Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics].
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19780766 2009 SURF1 missense mutations promote a mild Leigh phenotype.
19625251 2009 Surf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis.
19295170 2009 Loss of function of Sco1 and its interaction with cytochrome c oxidase.
18583168 2009 High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.
17908801 2008 Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16806233 2007 Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects.
16083427 2005 Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.
15764605 2005 Assembly of cytochrome-c oxidase in the absence of assembly protein Surf1p leads to loss of the active site heme.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15214016 2004 Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome.
15164053 2004 DNA sequence and analysis of human chromosome 9.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14607829 2004 Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1.
14564068 2001 SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.
14557577 2003 SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.
12812953 Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.
12538779 2003 Mutation screening in patients with isolated cytochrome c oxidase deficiency.
12515039 2002 [A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome].
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11955926 2002 Three novel SURF-1 mutations in Japanese patients with Leigh syndrome.
11579424 2001 Cytochrome c oxidase deficiency.
11317352 2001 Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
10746561 2000 Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
10647889 1999 Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.
10556303 1999 Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency.
10556302 1999 Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.
9843204 1998 SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
9740673 1998 The human Surfeit locus.
8499913 1993 The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-abl and can proto-oncogenes at chromosome band 9q34.1.
7702754 1994 The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human.