Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Wilson disease | | ISO | ANKS1B (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:23519153 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Wilson disease | | ISO | ANKS1B (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:23519153 | |
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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. | Organization of amyloid-beta protein precursor intracellular domain-associated protein-1 in the rat brain. | Jacob AL, etal., J Comp Neurol. 2010 Aug 15;518(16):3221-36. doi: 10.1002/cne.22394. |
3. | Activity-dependent AIDA-1 nuclear signaling regulates nucleolar numbers and protein synthesis in neurons. | Jordan BA, etal., Nat Neurosci. 2007 Apr;10(4):427-35. doi: 10.1038/nn1867. Epub 2007 Mar 4. |
4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
6. | ANKS1B Gene Product AIDA-1 Controls Hippocampal Synaptic Transmission by Regulating GluN2B Subunit Localization. | Tindi JO, etal., J Neurosci. 2015 Jun 17;35(24):8986-96. doi: 10.1523/JNEUROSCI.4029-14.2015. |
PMID:15057822 | PMID:15169875 | PMID:17875921 | PMID:22871113 | PMID:24746365 | PMID:26356309 | PMID:27477489 | PMID:29476059 |
Anks1b (Rattus norvegicus - Norway rat) |
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ANKS1B (Homo sapiens - human) |
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Anks1b (Mus musculus - house mouse) |
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Anks1b (Chinchilla lanigera - long-tailed chinchilla) |
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ANKS1B (Pan paniscus - bonobo/pygmy chimpanzee) |
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ANKS1B (Canis lupus familiaris - dog) |
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Anks1b (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ANKS1B (Sus scrofa - pig) |
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ANKS1B (Chlorocebus sabaeus - green monkey) |
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Anks1b (Heterocephalus glaber - naked mole-rat) |
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Variants in Anks1b
8990 total Variants |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D7Rat47 |
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D7Rat194 |
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D7Got16 |
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BE102489 |
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RH138629 |
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RH144012 |
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RH144380 |
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RH144500 |
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BF387129 |
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BF387391 |
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BE102988 |
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BE097681 |
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BF401678 |
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BF403875 |
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RH136686 |
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AW533069 |
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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 | 60 | ||||||||||||
Low | 2 | 1 | 1 | 1 | 1 | 12 | 15 | 15 | 2 | 1 | |||
Below cutoff | 3 | 28 | 19 | 5 | 18 | 5 | 7 | 7 | 2 | 20 | 26 | 9 | 7 |
RefSeq Transcripts | NM_001271371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001414940 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008765241 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008765243 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017594828 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017594830 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017594831 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017594832 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017594833 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017594834 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039079046 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039079047 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039079048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039079050 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039079051 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063263440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063263441 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063263442 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063263443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | DY315019 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAXUCZ010000007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000059269 ⟹ ENSRNOP00000056036 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000102313 ⟹ ENSRNOP00000084534 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000113343 ⟹ ENSRNOP00000083101 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000114777 ⟹ ENSRNOP00000078170 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000117411 ⟹ ENSRNOP00000089631 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000119672 ⟹ ENSRNOP00000083437 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001271371 ⟹ NP_001258300 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001414940 ⟹ NP_001401869 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_008765241 ⟹ XP_008763463 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017594828 ⟹ XP_017450317 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017594830 ⟹ XP_017450319 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017594832 ⟹ XP_017450321 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017594833 ⟹ XP_017450322 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039079046 ⟹ XP_038934974 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039079047 ⟹ XP_038934975 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039079048 ⟹ XP_038934976 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039079050 ⟹ XP_038934978 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039079051 ⟹ XP_038934979 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063263440 ⟹ XP_063119510 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063263441 ⟹ XP_063119511 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063263442 ⟹ XP_063119512 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063263443 ⟹ XP_063119513 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001258300 | (Get FASTA) | NCBI Sequence Viewer |
NP_001401869 | (Get FASTA) | NCBI Sequence Viewer | |
XP_008763463 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017450317 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017450319 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017450321 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017450322 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038934974 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038934975 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038934976 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038934978 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038934979 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063119510 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063119511 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063119512 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063119513 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000056036.5 | ||
ENSRNOP00000078170.1 | |||
ENSRNOP00000083101.1 | |||
ENSRNOP00000083437.1 | |||
ENSRNOP00000084534 | |||
ENSRNOP00000084534.1 | |||
ENSRNOP00000089631.1 | |||
GenBank Protein | P0C6S7 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001258300 ⟸ NM_001271371 |
- Peptide Label: | isoform 2 |
- UniProtKB: | P0C6S7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_008763463 ⟸ XM_008765241 |
- Peptide Label: | isoform X10 |
- UniProtKB: | P0C6S7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_017450322 ⟸ XM_017594833 |
- Peptide Label: | isoform X7 |
- UniProtKB: | P0C6S7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_017450321 ⟸ XM_017594832 |
- Peptide Label: | isoform X5 |
- UniProtKB: | P0C6S7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_017450319 ⟸ XM_017594830 |
- Peptide Label: | isoform X2 |
- UniProtKB: | P0C6S7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_017450317 ⟸ XM_017594828 |
- Peptide Label: | isoform X1 |
- UniProtKB: | P0C6S7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000056036 ⟸ ENSRNOT00000059269 |
RefSeq Acc Id: | XP_038934974 ⟸ XM_039079046 |
- Peptide Label: | isoform X3 |
- UniProtKB: | P0C6S7 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_038934975 ⟸ XM_039079047 |
- Peptide Label: | isoform X6 |
- UniProtKB: | P0C6S7 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_038934976 ⟸ XM_039079048 |
- Peptide Label: | isoform X9 |
- UniProtKB: | P0C6S7 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_038934978 ⟸ XM_039079050 |
- Peptide Label: | isoform X12 |
- UniProtKB: | P0C6S7 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_038934979 ⟸ XM_039079051 |
- Peptide Label: | isoform X13 |
RefSeq Acc Id: | ENSRNOP00000083101 ⟸ ENSRNOT00000113343 |
RefSeq Acc Id: | ENSRNOP00000083437 ⟸ ENSRNOT00000119672 |
RefSeq Acc Id: | ENSRNOP00000089631 ⟸ ENSRNOT00000117411 |
RefSeq Acc Id: | ENSRNOP00000078170 ⟸ ENSRNOT00000114777 |
RefSeq Acc Id: | ENSRNOP00000084534 ⟸ ENSRNOT00000102313 |
RefSeq Acc Id: | NP_001401869 ⟸ NM_001414940 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A0A8I6GAL6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063119512 ⟸ XM_063263442 |
- Peptide Label: | isoform X11 |
RefSeq Acc Id: | XP_063119511 ⟸ XM_063263441 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_063119510 ⟸ XM_063263440 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_063119513 ⟸ XM_063263443 |
- Peptide Label: | isoform X14 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P0C6S7-F1-model_v2 | AlphaFold | P0C6S7 | 1-1260 | 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:1565556 | AgrOrtholog |
BioCyc Gene | G2FUF-34484 | BioCyc |
Ensembl Genes | ENSRNOG00000024870 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000059269.6 | UniProtKB/TrEMBL |
ENSRNOT00000102313 | ENTREZGENE | |
ENSRNOT00000102313.1 | UniProtKB/TrEMBL | |
ENSRNOT00000113343.1 | UniProtKB/TrEMBL | |
ENSRNOT00000114777.1 | UniProtKB/TrEMBL | |
ENSRNOT00000117411.1 | UniProtKB/TrEMBL | |
ENSRNOT00000119672.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.150.50 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1.25.40.20 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
2.30.29.30 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | ANKS1/Caskin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ankyrin_rpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ankyrin_rpt-contain_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PTB/PI_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SAM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SAM/pointed_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SAM_ANKS1_repeat1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SAM_ANKS1_repeat2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NCBI Gene | 314721 | ENTREZGENE |
PANTHER | ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR24174:SF3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Ank_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PID | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SAM_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Anks1b | PhenoGen |
PRINTS | ANKYRIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | ANK_REP_REGION | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ANK_REPEAT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PID | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SAM_DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000024870 | RatGTEx |
SMART | ANK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SAM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF47769 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF48403 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A8I5Y9Y6_RAT | UniProtKB/TrEMBL |
A0A8I6A7P8_RAT | UniProtKB/TrEMBL | |
A0A8I6GAB9_RAT | UniProtKB/TrEMBL | |
A0A8I6GAL6 | ENTREZGENE, UniProtKB/TrEMBL | |
ANS1B_RAT | UniProtKB/Swiss-Prot | |
F1M2J2_RAT | UniProtKB/TrEMBL | |
P0C6S7 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2008-10-02 | Anks1b | ankyrin repeat and sterile alpha motif domain containing 1B | RGD1565556 | similar to cajalin 2 isoform a | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-04-30 | RGD1565556 | similar to cajalin 2 isoform a | RGD1565556_predicted | similar to cajalin 2 isoform a (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2006-03-07 | RGD1565556_predicted | similar to cajalin 2 isoform a (predicted) | LOC314721 | similar to cajalin 2 isoform a | Symbol and Name status set to approved | 1299863 | APPROVED |
2006-02-09 | LOC314721 | similar to cajalin 2 isoform a | Symbol and Name status set to provisional | 70820 | PROVISIONAL |