Property Summary

NCBI Gene PubMed Count 45
Grant Count 26
R01 Count 13
Funding $1,428,466.89
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 0.000
psoriasis 1.100 0.002
osteosarcoma 1.030 0.002
intraductal papillary-mucinous adenoma (... 1.200 0.001
ovarian cancer -1.400 0.000

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.
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AA Sequence

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