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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | asphyxiating thoracic dystrophy | | ISO | RGD:1605413 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | asphyxiating thoracic dystrophy | | ISO | RGD:1605413 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | MGDs mouse GO annotations | MGD data from the GO Consortium |
2. | Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. | Okazaki N, etal., DNA Res 2003 Aug 31;10(4):167-80. |
3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
4. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
5. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10349636 | PMID:10899141 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:11752298 | PMID:12466851 | PMID:12477932 | PMID:15182712 | PMID:15782199 | PMID:16141072 | PMID:16141073 |
PMID:18799693 | PMID:19253336 | PMID:20368623 | PMID:20889716 | PMID:21209331 | PMID:21267068 | PMID:21677750 | PMID:21873635 | PMID:22282595 | PMID:23418020 | PMID:23469164 | PMID:23955340 |
PMID:24009529 | PMID:24619649 | PMID:25294941 | PMID:25807483 | PMID:27340223 | PMID:27806291 | PMID:29078390 | PMID:29195058 | PMID:29236364 | PMID:29487109 | PMID:29539633 | PMID:31238004 |
PMID:32317081 | PMID:33095947 | PMID:33682229 | PMID:35196065 |
Ift140 (Mus musculus - house mouse) |
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IFT140 (Homo sapiens - human) |
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Ift140 (Rattus norvegicus - Norway rat) |
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Ift140 (Chinchilla lanigera - long-tailed chinchilla) |
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IFT140 (Pan paniscus - bonobo/pygmy chimpanzee) |
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IFT140 (Canis lupus familiaris - dog) |
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Ift140 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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IFT140 (Sus scrofa - pig) |
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IFT140 (Chlorocebus sabaeus - green monkey) |
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Ift140 (Heterocephalus glaber - naked mole-rat) |
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AI661311 |
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D17Jcs42 |
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D17Jcs41 |
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D13S289 |
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The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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. |
RefSeq Transcripts | NM_134126 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006523402 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006523403 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006523404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006523406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006523407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006523408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC130711 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC154229 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF220294 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI464700 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK129167 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK149331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK163782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK172033 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK209238 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY491413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BB736323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC009019 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC139005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC145494 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ941835 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY206021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CX221628 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CX222234 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ266093 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DV059529 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000024983 ⟹ ENSMUSP00000024983 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000137386 ⟹ ENSMUSP00000116163 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000139300 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000140692 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000142000 ⟹ ENSMUSP00000156399 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000151776 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000153895 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000156945 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000232788 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_134126 ⟹ NP_598887 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006523402 ⟹ XP_006523465 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006523403 ⟹ XP_006523466 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006523404 ⟹ XP_006523467 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006523406 ⟹ XP_006523469 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006523407 ⟹ XP_006523470 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006523408 ⟹ XP_006523471 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_598887 | (Get FASTA) | NCBI Sequence Viewer |
XP_006523465 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006523466 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006523467 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006523469 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006523470 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006523471 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAF69481 | (Get FASTA) | NCBI Sequence Viewer |
AAH09019 | (Get FASTA) | NCBI Sequence Viewer | |
AAI39006 | (Get FASTA) | NCBI Sequence Viewer | |
AAS21643 | (Get FASTA) | NCBI Sequence Viewer | |
ABB72790 | (Get FASTA) | NCBI Sequence Viewer | |
BAC97977 | (Get FASTA) | NCBI Sequence Viewer | |
BAE37490 | (Get FASTA) | NCBI Sequence Viewer | |
BAE42788 | (Get FASTA) | NCBI Sequence Viewer | |
E9PY46 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_598887 ⟸ NM_134126 |
- UniProtKB: | E9PY46 (UniProtKB/TrEMBL), Q3TQ94 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006523466 ⟸ XM_006523403 |
- Peptide Label: | isoform X1 |
- UniProtKB: | E9PY46 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006523469 ⟸ XM_006523406 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_006523471 ⟸ XM_006523408 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_006523470 ⟸ XM_006523407 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_006523467 ⟸ XM_006523404 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_006523465 ⟸ XM_006523402 |
- Peptide Label: | isoform X1 |
- UniProtKB: | E9PY46 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000116163 ⟸ ENSMUST00000137386 |
RefSeq Acc Id: | ENSMUSP00000024983 ⟸ ENSMUST00000024983 |
RefSeq Acc Id: | ENSMUSP00000156399 ⟸ ENSMUST00000142000 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-E9PY46-F1-model_v2 | AlphaFold | E9PY46 | 1-1464 | view protein structure |
RGD ID: | 13675108 | ||||||||
Promoter ID: | EPDNEW_M21703 | ||||||||
Type: | initiation region | ||||||||
Name: | Ift140_1 | ||||||||
Description: | Mus musculus intraflagellar transport 140 , mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M21704 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 13675110 | ||||||||
Promoter ID: | EPDNEW_M21704 | ||||||||
Type: | initiation region | ||||||||
Name: | Ift140_2 | ||||||||
Description: | Mus musculus intraflagellar transport 140 , mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M21703 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6828366 | ||||||||
Promoter ID: | MM_KWN:22573 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | NM_020608, NM_134126, OTTMUST00000061295, OTTMUST00000061298, UC008AZL.1 | ||||||||
Position: |
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RGD ID: | 6828356 | ||||||||
Promoter ID: | MM_KWN:22575 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Spleen | ||||||||
Transcripts: | OTTMUST00000061300, UC008AZO.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:2146906 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000024169 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSMUSP00000024983 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSMUSP00000116163 | ENTREZGENE | |
ENSMUSP00000116163.2 | UniProtKB/TrEMBL | |
ENSMUSP00000156399.2 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSMUST00000024983 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSMUST00000137386 | ENTREZGENE | |
ENSMUST00000137386.8 | UniProtKB/TrEMBL | |
ENSMUST00000142000.9 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.130.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | TPR-like_helical_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
WD40/YVTN_repeat-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WD40_repeat | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WD40_repeat_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:106633 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MGD | MGI:2146906 | ENTREZGENE |
NCBI Gene | 106633 | ENTREZGENE |
PhenoGen | Ift140 | PhenoGen |
SMART | WD40 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF48452 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF50978 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A3B2W3F6_MOUSE | UniProtKB/TrEMBL |
E9PY46 | ENTREZGENE | |
E9Q682_MOUSE | UniProtKB/TrEMBL | |
IF140_MOUSE | UniProtKB/Swiss-Prot | |
Q3TA81_MOUSE | UniProtKB/TrEMBL | |
Q3TQ94 | ENTREZGENE, UniProtKB/TrEMBL | |
Q6ZQ91_MOUSE | UniProtKB/TrEMBL | |
Q91VU5_MOUSE | UniProtKB/TrEMBL | |
Q9JIK6_MOUSE | UniProtKB/TrEMBL | |
UniProt Secondary | B2RSU5 | UniProtKB/Swiss-Prot |
Q2XQY6 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-04-04 | Ift140 | intraflagellar transport 140 | Tce5 | T-complex expressed gene 5 | Data Merged | 737654 | PROVISIONAL |
2012-07-10 | Ift140 | intraflagellar transport 140 | Ift140 | intraflagellar transport 140 homolog (Chlamydomonas) | Symbol and/or name change | 5135510 | APPROVED |