Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Lrrc56 | Mouse | primary ciliary dyskinesia 39 | | ISO | LRRC56 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Lrrc56 | Mouse | primary ciliary dyskinesia 39 | | ISO | LRRC56 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
2. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:15489334 | PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:21677750 | PMID:38355793 |
Lrrc56 (Mus musculus - house mouse) |
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LRRC56 (Homo sapiens - human) |
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Lrrc56 (Rattus norvegicus - Norway rat) |
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Lrrc56 (Chinchilla lanigera - long-tailed chinchilla) |
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LRRC56 (Pan paniscus - bonobo/pygmy chimpanzee) |
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LRRC56 (Canis lupus familiaris - dog) |
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Lrrc56 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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LRRC56 (Sus scrofa - pig) |
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LRRC56 (Chlorocebus sabaeus - green monkey) |
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Lrrc56 (Heterocephalus glaber - naked mole-rat) |
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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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
BB110509 |
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RH94696 |
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PMC112649P1 |
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PMC112649P2 |
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PMC86690P1 |
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RefSeq Transcripts | NM_001172064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001172065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001357825 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_153777 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006536240 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006536241 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006536242 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006536244 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006536245 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006536246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006536247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017312294 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030242983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030242984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030242985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030242986 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036153432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036153433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036153434 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036153435 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC108908 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK017603 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK035366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK215666 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK220237 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC027807 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY075853 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466531 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CJ092649 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSMUST00000047093 ⟹ ENSMUSP00000048691 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000070458 ⟹ ENSMUSP00000063912 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000084446 ⟹ ENSMUSP00000081486 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000144008 ⟹ ENSMUSP00000147342 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000144199 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000150141 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000209220 ⟹ ENSMUSP00000147745 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001172064 ⟹ NP_001165535 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001172065 ⟹ NP_001165536 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001357825 ⟹ NP_001344754 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_153777 ⟹ NP_722472 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006536240 ⟹ XP_006536303 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006536241 ⟹ XP_006536304 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006536242 ⟹ XP_006536305 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006536244 ⟹ XP_006536307 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006536245 ⟹ XP_006536308 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006536246 ⟹ XP_006536309 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006536247 ⟹ XP_006536310 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017312294 ⟹ XP_017167783 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030242983 ⟹ XP_030098843 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030242984 ⟹ XP_030098844 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030242985 ⟹ XP_030098845 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030242986 ⟹ XP_030098846 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036153432 ⟹ XP_036009325 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036153433 ⟹ XP_036009326 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036153434 ⟹ XP_036009327 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036153435 ⟹ XP_036009328 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001165535 | (Get FASTA) | NCBI Sequence Viewer |
NP_001165536 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001344754 | (Get FASTA) | NCBI Sequence Viewer | |
NP_722472 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006536303 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006536304 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006536305 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006536307 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006536308 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006536309 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006536310 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017167783 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030098843 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030098844 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030098845 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030098846 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036009325 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036009326 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036009327 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036009328 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH27807 | (Get FASTA) | NCBI Sequence Viewer |
BAC25520 | (Get FASTA) | NCBI Sequence Viewer | |
BAD90162 | (Get FASTA) | NCBI Sequence Viewer | |
EDL18010 | (Get FASTA) | NCBI Sequence Viewer | |
EDL18011 | (Get FASTA) | NCBI Sequence Viewer | |
EDL18012 | (Get FASTA) | NCBI Sequence Viewer | |
EDL18013 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000048691 | ||
ENSMUSP00000048691.5 | |||
ENSMUSP00000063912 | |||
ENSMUSP00000063912.5 | |||
ENSMUSP00000081486 | |||
ENSMUSP00000081486.3 | |||
ENSMUSP00000147342.2 | |||
ENSMUSP00000147745.2 | |||
GenBank Protein | Q8K375 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_722472 ⟸ NM_153777 |
- Peptide Label: | isoform a |
- UniProtKB: | Q571F2 (UniProtKB/Swiss-Prot), Q8K375 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001165535 ⟸ NM_001172064 |
- Peptide Label: | isoform a |
- UniProtKB: | Q571F2 (UniProtKB/Swiss-Prot), Q8K375 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001165536 ⟸ NM_001172065 |
- Peptide Label: | isoform b |
- UniProtKB: | Q8BMW2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006536304 ⟸ XM_006536241 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_006536305 ⟸ XM_006536242 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_006536309 ⟸ XM_006536246 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_006536303 ⟸ XM_006536240 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_006536308 ⟸ XM_006536245 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_006536310 ⟸ XM_006536247 |
- Peptide Label: | isoform X6 |
- Sequence: |
RefSeq Acc Id: | XP_006536307 ⟸ XM_006536244 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_017167783 ⟸ XM_017312294 |
- Peptide Label: | isoform X5 |
- UniProtKB: | Q8BMW2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_030098845 ⟸ XM_030242985 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_030098843 ⟸ XM_030242983 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | NP_001344754 ⟸ NM_001357825 |
- Peptide Label: | isoform a |
- UniProtKB: | Q8K375 (UniProtKB/Swiss-Prot), Q571F2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_030098844 ⟸ XM_030242984 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_030098846 ⟸ XM_030242986 |
- Peptide Label: | isoform X6 |
Ensembl Acc Id: | ENSMUSP00000048691 ⟸ ENSMUST00000047093 |
Ensembl Acc Id: | ENSMUSP00000147342 ⟸ ENSMUST00000144008 |
Ensembl Acc Id: | ENSMUSP00000081486 ⟸ ENSMUST00000084446 |
Ensembl Acc Id: | ENSMUSP00000063912 ⟸ ENSMUST00000070458 |
Ensembl Acc Id: | ENSMUSP00000147745 ⟸ ENSMUST00000209220 |
RefSeq Acc Id: | XP_036009326 ⟸ XM_036153433 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_036009325 ⟸ XM_036153432 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_036009328 ⟸ XM_036153435 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_036009327 ⟸ XM_036153434 |
- Peptide Label: | isoform X6 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8K375-F1-model_v2 | AlphaFold | Q8K375 | 1-552 | view protein structure |
RGD ID: | 8666079 | ||||||||
Promoter ID: | EPDNEW_M11071 | ||||||||
Type: | initiation region | ||||||||
Name: | Lrrc56_1 | ||||||||
Description: | Mus musculus leucine rich repeat containing 56 , transcript variant2, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M11072 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 8666081 | ||||||||
Promoter ID: | EPDNEW_M11072 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Lrrc56_2 | ||||||||
Description: | Mus musculus leucine rich repeat containing 56 , transcript variant2, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M11071 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6841472 | ||||||||
Promoter ID: | MM_KWN:53228 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | ENSMUST00000026572, ENSMUST00000106028, NM_001130444, NM_001172064, NM_001172065, OTTMUST00000039711, OTTMUST00000039713, OTTMUST00000039714, OTTMUST00000056184, OTTMUST00000056187, OTTMUST00000056189 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1917802 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000038637 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000047093 | ENTREZGENE |
ENSMUST00000047093.11 | UniProtKB/Swiss-Prot | |
ENSMUST00000070458 | ENTREZGENE | |
ENSMUST00000070458.11 | UniProtKB/Swiss-Prot | |
ENSMUST00000084446 | ENTREZGENE | |
ENSMUST00000084446.9 | UniProtKB/TrEMBL | |
ENSMUST00000144008.2 | UniProtKB/TrEMBL | |
ENSMUST00000209220.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.80.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | Leu-rich_rpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Leu-rich_rpt_4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
LRR_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
LRRC56 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:70552 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MGD | MGI:1917802 | ENTREZGENE |
NCBI Gene | 70552 | ENTREZGENE |
PANTHER | LEUCINE-RICH REPEAT-CONTAINING PROTEIN 56 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR22708 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | LRR_4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Lrrc56 | PhenoGen |
PROSITE | LRR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | L domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A1B0GR20_MOUSE | UniProtKB/TrEMBL |
A0A1B0GS06_MOUSE | UniProtKB/TrEMBL | |
LRC56_MOUSE | UniProtKB/Swiss-Prot | |
Q571F2 | ENTREZGENE | |
Q8BMW2 | ENTREZGENE, UniProtKB/TrEMBL | |
Q8K375 | ENTREZGENE | |
UniProt Secondary | Q571F2 | UniProtKB/Swiss-Prot |