Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Katnip | Mouse | Joubert Syndrome 26 | | IAGP | | 13592920 | OMIM:616784 | MouseDO | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Watched Genes
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Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
Click to see Annotation Detail View
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Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
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Gene Ontology Annotations
Click to see Annotation Detail View
Phenotype Annotations
Click to see Annotation Detail View
Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
Additional References at PubMed
| PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12466851 | PMID:12477932 | PMID:12520002 | PMID:12693553 | PMID:15226823 | PMID:16141072 | PMID:16141073 | PMID:18799693 |
| PMID:26714646 | PMID:29625897 | PMID:33378226 | PMID:38355793 |
Genomics
Comparative Map Data
| Katnip (Mus musculus - house mouse) |
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| KATNIP (Homo sapiens - human) |
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| Katnip (Rattus norvegicus - Norway rat) |
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| Katnip (Chinchilla lanigera - long-tailed chinchilla) |
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| KATNIP (Pan paniscus - bonobo/pygmy chimpanzee) |
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| KATNIP (Canis lupus familiaris - dog) |
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| Katnip (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| KATNIP (Sus scrofa - pig) |
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| KATNIP (Chlorocebus sabaeus - green monkey) |
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| Katnip (Heterocephalus glaber - naked mole-rat) |
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miRNA Target Status
Predicted Target Of
| 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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QTLs in Region (GRCm39)
| The following QTLs overlap with this region. | | Full Report | | CSV | | TAB | | Printer | | Gviewer |
Markers in Region
| RH126837 |
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| 06.MMHAP16FLB3.seq |
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| mHAa21f12.seq |
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| D7Mit286 |
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| UniSTS:235776 |
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| AU021710 |
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| AU022204 |
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| D1Rat65 |
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Expression
RNA-SEQ Expression
Sequence
Nucleotide Sequences
| Ensembl Acc Id: | ENSMUST00000069660 ⟹ ENSMUSP00000065744 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000122337 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000124223 ⟹ ENSMUSP00000118668 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000132204 ⟹ ENSMUSP00000115955 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000148701 ⟹ ENSMUSP00000119527 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000155059 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000205462 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000205723 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_001081022 ⟹ NP_001074491 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | NM_001358287 ⟹ NP_001345216 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006507718 ⟹ XP_006507781 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_011241771 ⟹ XP_011240073 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_011241774 ⟹ XP_011240076 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017322207 ⟹ XP_017177696 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017322208 ⟹ XP_017177697 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_030242515 ⟹ XP_030098375 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_036153011 ⟹ XP_036008904 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
Protein Sequences
| RefSeq Acc Id: | NP_001074491 ⟸ NM_001081022 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q8CFE1 (UniProtKB/Swiss-Prot), Q8C759 (UniProtKB/Swiss-Prot), Q80TX9 (UniProtKB/Swiss-Prot), Q8K0N9 (UniProtKB/Swiss-Prot), Q8C753 (UniProtKB/Swiss-Prot), B2RXY0 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006507781 ⟸ XM_006507718 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | F6XQI1 (UniProtKB/TrEMBL), B2RXY0 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_011240073 ⟸ XM_011241771 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | B2RXY0 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_011240076 ⟸ XM_011241774 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | B2RXY0 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_017177697 ⟸ XM_017322208 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
| RefSeq Acc Id: | XP_017177696 ⟸ XM_017322207 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | B2RXY0 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_030098375 ⟸ XM_030242515 |
| - Peptide Label: | isoform X5 |
| - UniProtKB: | B2RXY0 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | NP_001345216 ⟸ NM_001358287 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | F6XQI1 (UniProtKB/TrEMBL), B2RXY0 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSMUSP00000118668 ⟸ ENSMUST00000124223 |
| Ensembl Acc Id: | ENSMUSP00000115955 ⟸ ENSMUST00000132204 |
| Ensembl Acc Id: | ENSMUSP00000119527 ⟸ ENSMUST00000148701 |
| Ensembl Acc Id: | ENSMUSP00000065744 ⟸ ENSMUST00000069660 |
| RefSeq Acc Id: | XP_036008904 ⟸ XM_036153011 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | F6XQI1 (UniProtKB/TrEMBL), B2RXY0 (UniProtKB/TrEMBL) |
Protein Structures
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q8C753-F1-model_v2 | AlphaFold | Q8C753 | 1-1610 | view protein structure |
Promoters
| RGD ID: | 8665511 | ||||||||
| Promoter ID: | EPDNEW_M10787 | ||||||||
| Type: | initiation region | ||||||||
| Name: | D430042O09Rik_1 | ||||||||
| Description: | Mus musculus RIKEN cDNA D430042O09 gene , transcript variant2, mRNA. | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Alternative Promoters: | null; see alsoEPDNEW_M10788 | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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| RGD ID: | 8665513 | ||||||||
| Promoter ID: | EPDNEW_M10788 | ||||||||
| Type: | multiple initiation site | ||||||||
| Name: | D430042O09Rik_2 | ||||||||
| Description: | Mus musculus RIKEN cDNA D430042O09 gene , transcript variant2, mRNA. | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Alternative Promoters: | null; see alsoEPDNEW_M10787 | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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| RGD ID: | 6840922 | ||||||||
| Promoter ID: | MM_KWN:52643 | ||||||||
| Type: | CpG-Island | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day6, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
| Transcripts: | ENSMUST00000042859, ENSMUST00000055506, ENSMUST00000071620, ENSMUST00000106423, NM_001081022, OTTMUST00000076629, OTTMUST00000076648, UC009JQJ.1 | ||||||||
| Position: |
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Additional Information
External Database Links
| Database | Acc Id | Source(s) |
| AGR Gene | MGI:2442760 | AgrOrtholog |
| Ensembl Genes | ENSMUSG00000032743 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSMUST00000069660 | ENTREZGENE |
| ENSMUST00000069660.13 | UniProtKB/Swiss-Prot | |
| ENSMUST00000124223 | ENTREZGENE | |
| ENSMUST00000124223.8 | UniProtKB/TrEMBL | |
| ENSMUST00000132204.3 | UniProtKB/TrEMBL | |
| ENSMUST00000148701.4 | UniProtKB/TrEMBL | |
| InterPro | DUF4457 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| KIAA0556 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| KEGG Report | mmu:233865 | UniProtKB/Swiss-Prot |
| MGD | MGI:2442760 | ENTREZGENE |
| NCBI Gene | 233865 | ENTREZGENE |
| PANTHER | KATANIN-INTERACTING PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| PTHR21534 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| Pfam | DUF4457 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| PhenoGen | Katnip | PhenoGen |
| UniProt | B2RXY0 | ENTREZGENE, UniProtKB/TrEMBL |
| D3Z212_MOUSE | UniProtKB/TrEMBL | |
| F6UDS6_MOUSE | UniProtKB/TrEMBL | |
| F6XQI1 | ENTREZGENE, UniProtKB/TrEMBL | |
| K0556_MOUSE | UniProtKB/Swiss-Prot | |
| Q80TX9 | ENTREZGENE | |
| Q8C753 | ENTREZGENE | |
| Q8C759 | ENTREZGENE | |
| Q8CFE1 | ENTREZGENE | |
| Q8K0N9 | ENTREZGENE | |
| UniProt Secondary | Q80TX9 | UniProtKB/Swiss-Prot |
| Q8C759 | UniProtKB/Swiss-Prot | |
| Q8CFE1 | UniProtKB/Swiss-Prot | |
| Q8K0N9 | UniProtKB/Swiss-Prot |
Nomenclature History
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2020-08-24 | Katnip | katanin interacting protein | D430042O09Rik | RIKEN cDNA D430042O09 gene | Symbol and/or name updated | 27372883 | PROVISIONAL |