Details for: SURF1

Gene ID: 6834

Symbol: SURF1

Ensembl ID: ENSG00000148290

Description: SURF1 cytochrome c oxidase assembly factor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 168.1826
    Cell Significance Index: -26.1600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 105.3842
    Cell Significance Index: -26.7300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 82.0978
    Cell Significance Index: -33.8200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 73.8791
    Cell Significance Index: -34.8800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 73.2295
    Cell Significance Index: -29.7500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 65.3790
    Cell Significance Index: -33.6300
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 52.2039
    Cell Significance Index: -35.0300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 31.5373
    Cell Significance Index: -30.1100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 24.9320
    Cell Significance Index: -30.7400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.5633
    Cell Significance Index: -22.9400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.1867
    Cell Significance Index: -32.3100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.6511
    Cell Significance Index: -23.5000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 4.9625
    Cell Significance Index: 79.6200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.4011
    Cell Significance Index: 111.9500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.6103
    Cell Significance Index: 83.6500
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.4413
    Cell Significance Index: 33.3000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.3721
    Cell Significance Index: 12.6400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.1800
    Cell Significance Index: 32.1200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.1113
    Cell Significance Index: 200.3300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.0261
    Cell Significance Index: 126.1700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.9663
    Cell Significance Index: 68.3400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8863
    Cell Significance Index: 484.0100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.8494
    Cell Significance Index: 54.8000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.8432
    Cell Significance Index: 62.8400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.7843
    Cell Significance Index: 346.7800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7338
    Cell Significance Index: 100.7700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.6985
    Cell Significance Index: 119.2700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6429
    Cell Significance Index: 104.5600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.6325
    Cell Significance Index: 28.6700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.6243
    Cell Significance Index: 29.3400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.5875
    Cell Significance Index: 75.9100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.5761
    Cell Significance Index: 16.9200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5735
    Cell Significance Index: 517.8200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5299
    Cell Significance Index: 67.9300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.4069
    Cell Significance Index: 10.7000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4064
    Cell Significance Index: 11.7100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3897
    Cell Significance Index: 38.5500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.3703
    Cell Significance Index: 19.2900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3189
    Cell Significance Index: 60.6800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2567
    Cell Significance Index: 30.2700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.2235
    Cell Significance Index: 3.7400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.2157
    Cell Significance Index: 2.4500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.2064
    Cell Significance Index: 3.8200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1897
    Cell Significance Index: 38.0500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1543
    Cell Significance Index: 30.6300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1504
    Cell Significance Index: 9.4800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0600
    Cell Significance Index: 2.1100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0579
    Cell Significance Index: 42.4800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0575
    Cell Significance Index: 2.9000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0465
    Cell Significance Index: 35.2100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.0420
    Cell Significance Index: 0.6300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0359
    Cell Significance Index: 12.8900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0033
    Cell Significance Index: -0.3400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0049
    Cell Significance Index: -0.1300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0069
    Cell Significance Index: -12.9300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0180
    Cell Significance Index: -33.2600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0230
    Cell Significance Index: -35.3400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0260
    Cell Significance Index: -35.4100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0276
    Cell Significance Index: -17.5400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0307
    Cell Significance Index: -22.7200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0347
    Cell Significance Index: -0.7400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0414
    Cell Significance Index: -23.3600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0532
    Cell Significance Index: -6.1000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0598
    Cell Significance Index: -27.1300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0765
    Cell Significance Index: -47.7900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0910
    Cell Significance Index: -10.6100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0998
    Cell Significance Index: -4.0900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1058
    Cell Significance Index: -3.3900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1141
    Cell Significance Index: -5.9900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1149
    Cell Significance Index: -3.2100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.1152
    Cell Significance Index: -0.9200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1166
    Cell Significance Index: -33.5400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1562
    Cell Significance Index: -22.7100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1678
    Cell Significance Index: -35.3500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1828
    Cell Significance Index: -3.9600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2005
    Cell Significance Index: -15.8800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2063
    Cell Significance Index: -5.2700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2288
    Cell Significance Index: -4.7900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2337
    Cell Significance Index: -8.1200
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.2868
    Cell Significance Index: -1.7700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2922
    Cell Significance Index: -22.4300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3012
    Cell Significance Index: -3.5900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3070
    Cell Significance Index: -31.9700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3209
    Cell Significance Index: -18.0100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.3320
    Cell Significance Index: -4.5300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.4028
    Cell Significance Index: -4.1700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4664
    Cell Significance Index: -13.3700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.5052
    Cell Significance Index: -13.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5569
    Cell Significance Index: -34.1500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.5628
    Cell Significance Index: -9.9500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5677
    Cell Significance Index: -14.1900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.5869
    Cell Significance Index: -4.9300
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.6365
    Cell Significance Index: -6.9200
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.6474
    Cell Significance Index: -16.1700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.6477
    Cell Significance Index: -28.6500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6539
    Cell Significance Index: -19.2600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.6590
    Cell Significance Index: -16.9400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.7034
    Cell Significance Index: -25.8200
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.7138
    Cell Significance Index: -5.3900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.7142
    Cell Significance Index: -25.0200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The SURF1 gene is a mitochondrial gene, meaning it is located in the mitochondrial DNA and is involved in the assembly of mitochondrial proteins. The gene encodes a protein that is essential for the assembly of cytochrome c oxidase, a complex enzyme that is composed of multiple subunits. The SURF1 protein is a cytochrome c oxidase assembly factor, meaning it plays a critical role in the assembly of the enzyme's subunits. The gene is also involved in the regulation of cellular responses to stress and stimuli, and has been shown to interact with other genes and proteins involved in these processes. **Pathways and Functions** The SURF1 gene is involved in a range of cellular processes, including: 1. **Aerobic Respiration**: The SURF1 gene is essential for the assembly of cytochrome c oxidase, which is a critical enzyme in the aerobic respiratory pathway. This pathway generates energy for the cell through the transfer of electrons from NADH to oxygen, resulting in the production of ATP. 2. **Cellular Responses to Stimuli**: The SURF1 gene is involved in the regulation of cellular responses to stress and stimuli, including heat shock, oxidative stress, and inflammation. This is achieved through its interactions with other genes and proteins involved in these processes. 3. **Cytochrome-c Oxidase Activity**: The SURF1 gene is essential for the assembly of cytochrome c oxidase, which is a critical enzyme in the electron transport chain. This enzyme is responsible for the transfer of electrons from NADH to oxygen, resulting in the production of ATP. 4. **Mitochondrial Respirasome Assembly**: The SURF1 gene is involved in the assembly of the mitochondrial respirasome, a complex of enzymes that is involved in the electron transport chain. **Clinical Significance** Mutations in the SURF1 gene have been associated with a range of disorders, including: 1. **Barth Syndrome**: A severe and often fatal genetic disorder that affects the heart, skeletal muscle, and other organs. The disorder is characterized by a range of symptoms, including cardiomyopathy, muscle weakness, and developmental delays. 2. **Other Disorders**: The SURF1 gene has also been associated with other disorders, including mitochondrial myopathies, cardiomyopathies, and neurodegenerative disorders. In summary, the SURF1 gene plays a critical role in the assembly of cytochrome c oxidase, a key enzyme in the mitochondrial electron transport chain. Mutations in the gene have been associated with a range of disorders, including Barth syndrome and other mitochondrial and cardiomyopathic disorders. Further research is needed to fully understand the role of the SURF1 gene in human health and disease.

Genular Protein ID: 1680228379

Symbol: SURF1_HUMAN

Name: Surfeit locus protein 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7702754

Title: The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human.

PubMed ID: 7702754

DOI: 10.1089/dna.1994.13.1117

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9843204

Title: SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.

PubMed ID: 9843204

DOI: 10.1038/3804

PubMed ID: 11317352

Title: Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.

PubMed ID: 11317352

DOI: 10.1002/humu.1112.abs

PubMed ID: 26321642

Title: MITRAC7 acts as a COX1-specific chaperone and reveals a checkpoint during cytochrome c oxidase assembly.

PubMed ID: 26321642

DOI: 10.1016/j.celrep.2015.08.009

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 10558868

Title: SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

PubMed ID: 10558868

DOI: 10.1006/bbrc.1999.1662

PubMed ID: 10746561

Title: Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.

PubMed ID: 10746561

DOI: 10.1007/s004390051028

PubMed ID: 10647889

Title: Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.

PubMed ID: 10647889

DOI: 10.1007/s004399900191

PubMed ID: 14564068

Title: SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.

PubMed ID: 14564068

PubMed ID: 16120373

Title: Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis.

PubMed ID: 16120373

DOI: 10.1016/j.mito.2004.05.004

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 21937992

Title: Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PubMed ID: 21937992

DOI: 10.1038/nature10423

PubMed ID: 22410471

Title: Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

PubMed ID: 22410471

DOI: 10.1016/j.braindev.2012.02.007

PubMed ID: 22488715

Title: SURF1-associated leigh syndrome: A case series and novel mutations.

PubMed ID: 22488715

DOI: 10.1002/humu.22095

PubMed ID: 24027061

Title: SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

PubMed ID: 24027061

DOI: 10.1212/wnl.0b013e3182a4a518

PubMed ID: 26443249

Title: Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

PubMed ID: 26443249

PubMed ID: 29933018

Title: SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.

PubMed ID: 29933018

DOI: 10.1016/j.gene.2018.06.058

PubMed ID: 29715184

Title: Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.

PubMed ID: 29715184

DOI: 10.2478/enr-2018-0013

Sequence Information:

  • Length: 300
  • Mass: 33331
  • Checksum: EC890EA48A0EDE7A
  • Sequence:
  • MAAVAALQLG LRAAGLGRAP ASAAWRSVLR VSPRPGVAWR PSRCGSSAAE ASATKAEDDS 
    FLQWVLLLIP VTAFGLGTWQ VQRRKWKLNL IAELESRVLA EPVPLPADPM ELKNLEYRPV 
    KVRGCFDHSK ELYMMPRTMV DPVREAREGG LISSSTQSGA YVVTPFHCTD LGVTILVNRG 
    FVPRKKVNPE TRQKGQIEGE VDLIGMVRLT ETRQPFVPEN NPERNHWHYR DLEAMARITG 
    AEPIFIDANF QSTVPGGPIG GQTRVTLRNE HLQYIVTWYG LSAATSYLWF KKFLRGTPGV

Genular Protein ID: 749574074

Symbol: A0A087WYS9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 191
  • Mass: 21710
  • Checksum: 4412844016872488
  • Sequence:
  • MELKNLEYRP VKVRGCFDHS KELYMMPRTM VDPVREAREG GLISSSTQSG AYVVTPFHCT 
    DLGVTILVNR GFVPRKKVNP ETRQKGQIEG EVDLIGMVRL TETRQPFVPE NNPERNHWHY 
    RDLEAMARIT GAEPIFIDAN FQSTVPGGPI GGQTRVTLRN EHLQYIVTWY GLSAATSYLW 
    FKKFLRGTPG V

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.