Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Neurodegeneration with Brain Iron Accumulation 7 | | ISO | REPS1 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Neurodegeneration with Brain Iron Accumulation 7 | | ISO | REPS1 (Homo sapiens) | 7240710 | | OMIM | | |
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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 MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
3. | GOA pipeline | RGD automated data pipeline |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
Reps1 (Rattus norvegicus - Norway rat) |
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REPS1 (Homo sapiens - human) |
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Reps1 (Mus musculus - house mouse) |
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Reps1 (Chinchilla lanigera - long-tailed chinchilla) |
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REPS1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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REPS1 (Canis lupus familiaris - dog) |
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Reps1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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REPS1 (Sus scrofa - pig) |
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REPS1 (Chlorocebus sabaeus - green monkey) |
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Reps1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Reps1
192 total Variants |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
BB161292 |
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RH142277 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 2 | 24 | 17 | 8 | 19 | 8 | 74 | 23 | 36 | 11 | |||
Low | 1 | 19 | 40 | 33 | 33 | 8 | 11 | 12 | 5 | 8 | |||
Below cutoff |
RefSeq Transcripts | NM_001394899 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001394900 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001415798 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105158 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105163 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105167 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105171 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105175 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105181 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105185 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105200 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105204 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105212 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063284299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063284301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063284303 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063284305 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063284307 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH473994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAXUCZ010000001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000089607 ⟹ ENSRNOP00000075677 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000090703 ⟹ ENSRNOP00000071230 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000096610 ⟹ ENSRNOP00000091930 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000118337 ⟹ ENSRNOP00000084736 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001394899 ⟹ NP_001381828 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001394900 ⟹ NP_001381829 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001415798 ⟹ NP_001402727 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039105158 ⟹ XP_038961086 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039105163 ⟹ XP_038961091 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039105167 ⟹ XP_038961095 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039105171 ⟹ XP_038961099 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039105175 ⟹ XP_038961103 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039105181 ⟹ XP_038961109 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039105185 ⟹ XP_038961113 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039105200 ⟹ XP_038961128 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039105204 ⟹ XP_038961132 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039105212 ⟹ XP_038961140 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063284299 ⟹ XP_063140369 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063284301 ⟹ XP_063140371 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063284303 ⟹ XP_063140373 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063284305 ⟹ XP_063140375 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063284307 ⟹ XP_063140377 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001381828 | (Get FASTA) | NCBI Sequence Viewer |
NP_001381829 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001402727 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038961086 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038961091 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038961095 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038961099 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038961103 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038961109 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038961113 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038961128 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038961132 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038961140 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063140369 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063140371 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063140373 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063140375 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063140377 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDL93766 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSRNOP00000071230 | ||
ENSRNOP00000071230.2 | |||
ENSRNOP00000075677.2 | |||
ENSRNOP00000084736.1 | |||
ENSRNOP00000091930 | |||
ENSRNOP00000091930.1 |
RefSeq Acc Id: | ENSRNOP00000075677 ⟸ ENSRNOT00000089607 |
RefSeq Acc Id: | ENSRNOP00000071230 ⟸ ENSRNOT00000090703 |
RefSeq Acc Id: | XP_038961086 ⟸ XM_039105158 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I6GJC5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038961095 ⟸ XM_039105167 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I6GJC5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038961091 ⟸ XM_039105163 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I6GJC5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038961099 ⟸ XM_039105171 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8I6GJC5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038961109 ⟸ XM_039105181 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A8I6GJC5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038961113 ⟸ XM_039105185 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A8I6GJC5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038961103 ⟸ XM_039105175 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A8I6GJC5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038961140 ⟸ XM_039105212 |
- Peptide Label: | isoform X14 |
- UniProtKB: | A0A0G2JZY3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038961132 ⟸ XM_039105204 |
- Peptide Label: | isoform X10 |
- UniProtKB: | A0A8I6GJC5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038961128 ⟸ XM_039105200 |
- Peptide Label: | isoform X9 |
- UniProtKB: | A0A8I6GJC5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSRNOP00000091930 ⟸ ENSRNOT00000096610 |
RefSeq Acc Id: | ENSRNOP00000084736 ⟸ ENSRNOT00000118337 |
RefSeq Acc Id: | NP_001402727 ⟸ NM_001415798 |
- Peptide Label: | isoform 3 |
- UniProtKB: | A0A0G2JZY3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001381828 ⟸ NM_001394899 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A0A0G2JZY3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001381829 ⟸ NM_001394900 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A0A0G2JZY3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063140369 ⟸ XM_063284299 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_063140371 ⟸ XM_063284301 |
- Peptide Label: | isoform X11 |
RefSeq Acc Id: | XP_063140375 ⟸ XM_063284305 |
- Peptide Label: | isoform X13 |
RefSeq Acc Id: | XP_063140373 ⟸ XM_063284303 |
- Peptide Label: | isoform X12 |
RefSeq Acc Id: | XP_063140377 ⟸ XM_063284307 |
- Peptide Label: | isoform X15 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-A0A0G2JZY3-F1-model_v2 | AlphaFold | A0A0G2JZY3 | 1-744 | 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:1307131 | AgrOrtholog |
BioCyc Gene | G2FUF-62279 | BioCyc |
Ensembl Genes | ENSRNOG00000059224 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000089607.2 | UniProtKB/TrEMBL |
ENSRNOT00000090703.2 | UniProtKB/TrEMBL | |
ENSRNOT00000096610.1 | UniProtKB/TrEMBL | |
ENSRNOT00000118337.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | EF-hand | UniProtKB/TrEMBL |
InterPro | EF-hand-dom_pair | UniProtKB/TrEMBL |
EF_Hand_1_Ca_BS | UniProtKB/TrEMBL | |
EF_hand_dom | UniProtKB/TrEMBL | |
EH_dom | UniProtKB/TrEMBL | |
NCBI Gene | 292944 | ENTREZGENE |
PANTHER | EH DOMAIN | UniProtKB/TrEMBL |
PTHR11216:SF63 | UniProtKB/TrEMBL | |
Pfam | EF-hand_4 | UniProtKB/TrEMBL |
PhenoGen | Reps1 | PhenoGen |
PROSITE | EF_HAND_1 | UniProtKB/TrEMBL |
EF_HAND_2 | UniProtKB/TrEMBL | |
PS50031 | UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000059224 | RatGTEx |
SMART | SM00027 | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF47473 | UniProtKB/TrEMBL |
UniProt | A0A0G2JZY3 | ENTREZGENE, UniProtKB/TrEMBL |
A0A0G2KB70_RAT | UniProtKB/TrEMBL | |
A0A8I5ZZS5_RAT | UniProtKB/TrEMBL | |
A0A8I6GJC5 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2021-03-09 | Reps1 | RALBP1 associated Eps domain containing 1 | LOC100909392 | ralBP1-associated Eps domain-containing protein 1-like | Data merged from RGD:6504231 | 737654 | PROVISIONAL |
2012-07-05 | LOC100909392 | ralBP1-associated Eps domain-containing protein 1-like | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
2008-11-04 | Reps1 | RALBP1 associated Eps domain containing 1 | Reps1 | RalBP1 associated Eps domain containing protein | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-04-30 | Reps1 | RalBP1 associated Eps domain containing protein | Reps1_predicted | RalBP1 associated Eps domain containing protein (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2005-01-12 | Reps1_predicted | RalBP1 associated Eps domain containing protein (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |