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| # | Reference Title | Reference Citation |
| 1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 2. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 3. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 4. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 6. | Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome. | Poyau A, etal., FEBS Lett 1999 Dec 3;462(3):416-20. |
| 7. | Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. | Poyau A, etal., Hum Genet 2000 Feb;106(2):194-205. |
| 8. | GOA pipeline | RGD automated data pipeline |
| 9. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 10. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 11. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 12. | SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. | Zhu Z, etal., Nat Genet. 1998 Dec;20(4):337-43. |
| PMID:12566387 | PMID:20888800 | PMID:23838831 | PMID:24027061 | PMID:34800366 |
| Surf1 (Rattus norvegicus - Norway rat) |
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| SURF1 (Homo sapiens - human) |
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| Surf1 (Mus musculus - house mouse) |
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| Surf1 (Chinchilla lanigera - long-tailed chinchilla) |
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| LOC100983451 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SURF1 (Canis lupus familiaris - dog) |
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| LOC101971854 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SURF1 (Sus scrofa - pig) |
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| SURF1 (Chlorocebus sabaeus - green monkey) |
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| LOC101710326 (Heterocephalus glaber - naked mole-rat) |
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| LOC116901251 (Rattus rattus - black rat) |
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.
Variants in Surf1
16 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| RH141176 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 165 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 144 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_172068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_006233864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006233865 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017592020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017592021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017592022 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017592099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC126134 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF182952 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH474001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000061242 ⟹ ENSRNOP00000057954 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000118510 ⟹ ENSRNOP00000092828 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_172068 ⟹ NP_742065 | ||||||||||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017592099 ⟹ XP_017447588 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| Protein RefSeqs | NP_742065 | (Get FASTA) | NCBI Sequence Viewer |
| XP_017447588 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAF19608 | (Get FASTA) | NCBI Sequence Viewer |
| EDL93455 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL93456 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000065447.3 | ||
| ENSRNOP00000092828.1 | |||
| GenBank Protein | Q9QXU2 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_742065 ⟸ NM_172068 |
| - UniProtKB: | Q9QXU2 (UniProtKB/Swiss-Prot), A6JTJ1 (UniProtKB/TrEMBL), A6JTJ2 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000057954 ⟸ ENSRNOT00000061242 |
| RefSeq Acc Id: | XP_017447588 ⟸ XM_017592099 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A6JTJ2 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000092828 ⟸ ENSRNOT00000118510 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q9QXU2-F1-model_v2 | AlphaFold | Q9QXU2 | 1-306 | view protein structure |
| AF-Q7TP91-F1-model_v2 | AlphaFold | Q7TP91 | 1-733 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:620527 | AgrOrtholog |
| BioCyc Gene | G2FUF-50320 | BioCyc |
| Ensembl Genes | ENSRNOG00000005247 | Ensembl, UniProtKB/Swiss-Prot |
| ENSRNOG00000060005 | Ensembl, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENSRNOT00000071754.3 | UniProtKB/Swiss-Prot |
| ENSRNOT00000118510.1 | UniProtKB/Swiss-Prot | |
| InterPro | Surf1/Shy1 | UniProtKB/Swiss-Prot |
| Surf1/Surf4 | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:64463 | UniProtKB/Swiss-Prot |
| NCBI Gene | 64463 | ENTREZGENE |
| PANTHER | PTHR23427 | UniProtKB/Swiss-Prot |
| SURFEIT LOCUS PROTEIN 1 | UniProtKB/Swiss-Prot | |
| Pfam | SURF1 | UniProtKB/Swiss-Prot |
| PhenoGen | Surf1 | PhenoGen |
| PROSITE | SURF1 | UniProtKB/Swiss-Prot |
| RatGTEx | ENSRNOG00000005247 | RatGTEx |
| ENSRNOG00000060005 | RatGTEx | |
| UniProt | A0A8I5ZX53_RAT | UniProtKB/TrEMBL |
| A0A8L2UMZ7_RAT | UniProtKB/TrEMBL | |
| A6JTJ1 | ENTREZGENE, UniProtKB/TrEMBL | |
| A6JTJ2 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q9QXU2 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2021-03-09 | Surf1 | SURF1, cytochrome c oxidase assembly factor | LOC100912008 | uncharacterized LOC100912008 | Data merged from RGD:6489329 | 737654 | PROVISIONAL |
| 2018-04-19 | Surf1 | SURF1, cytochrome c oxidase assembly factor | Surf1 | surfeit 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2012-07-05 | LOC100912008 | uncharacterized LOC100912008 | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
| 2004-12-14 | Surf1 | surfeit 1 | Surfeit 1 | Name updated | 1299863 | APPROVED | |
| 2002-08-07 | Surf1 | Surfeit 1 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
| Note Type | Note | Reference |
|---|---|---|
| gene_disease | human homolog is mutated in patients with Leigh syndrome associated with cytochrome c oxidase deficiency | 634132 |