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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Celsr1 | Rat | Lymphatic Malformation 9 | | ISO | CELSR1 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Celsr1 | Rat | Lymphatic Malformation 9 | | ISO | CELSR1 (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. | Planar cell polarity signaling in vertebrates. | Jones C and Chen P, Bioessays. 2007 Feb;29(2):120-32. |
3. | GOA pipeline | RGD automated data pipeline |
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. | Comprehensive gene review and curation | RGD comprehensive gene curation |
PMID:10932191 | PMID:12842012 | PMID:15632090 | PMID:15744052 | PMID:15955893 | PMID:16687519 | PMID:17229766 | PMID:18849982 | PMID:19357712 | PMID:20223754 | PMID:20353824 | PMID:20631168 |
PMID:20643356 | PMID:20704721 | PMID:32070035 |
Celsr1 (Rattus norvegicus - Norway rat) |
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CELSR1 (Homo sapiens - human) |
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Celsr1 (Mus musculus - house mouse) |
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Celsr1 (Chinchilla lanigera - long-tailed chinchilla) |
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CELSR1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CELSR1 (Canis lupus familiaris - dog) |
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Celsr1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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LOC102159820 (Sus scrofa - pig) |
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CELSR1 (Chlorocebus sabaeus - green monkey) |
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Celsr1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Celsr1
725 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 |
RH131921 |
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RH132102 |
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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 | 26 | 1 | 1 | 35 | 22 | 26 | 6 | ||||||
Low | 2 | 17 | 21 | 6 | 18 | 6 | 2 | 2 | 39 | 13 | 8 | 5 | 2 |
Below cutoff | 1 | 33 | 33 | 33 | 6 | 8 | 7 | 6 |
RefSeq Transcripts | NM_001427591 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006226188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006242167 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017595277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017595278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017595279 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017603473 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017603474 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017603475 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063263331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC135400 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC141997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY212290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000036025 ⟹ ENSRNOP00000029944 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001427591 ⟹ NP_001414520 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_006242167 ⟹ XP_006242229 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039080317 ⟹ XP_038936245 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063263331 ⟹ XP_063119401 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001414520 | (Get FASTA) | NCBI Sequence Viewer |
XP_006242229 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038936245 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063119401 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAO72333 | (Get FASTA) | NCBI Sequence Viewer |
EDM15563 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000029944.6 |
RefSeq Acc Id: | XP_006242229 ⟸ XM_006242167 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A6HTF9 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000029944 ⟸ ENSRNOT00000036025 |
RefSeq Acc Id: | XP_038936245 ⟸ XM_039080317 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A6HTF9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001414520 ⟸ NM_001427591 |
- UniProtKB: | A6HTF9 (UniProtKB/TrEMBL), F1MAS4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063119401 ⟸ XM_063263331 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A6HTF9 (UniProtKB/TrEMBL) |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:1560078 | AgrOrtholog |
BioCyc Gene | G2FUF-32521 | BioCyc |
Ensembl Genes | ENSRNOG00000021285 | Ensembl, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000036025.6 | UniProtKB/TrEMBL |
Gene3D-CATH | 2.60.120.200 | UniProtKB/TrEMBL |
2.60.220.50 | UniProtKB/TrEMBL | |
4.10.1240.10 | UniProtKB/TrEMBL | |
Cadherins | UniProtKB/TrEMBL | |
Laminin | UniProtKB/TrEMBL | |
Rhodopsin 7-helix transmembrane proteins | UniProtKB/TrEMBL | |
Tie2 ligand-binding domain superfamily | UniProtKB/TrEMBL | |
InterPro | Cadherin | UniProtKB/TrEMBL |
Cadherin-like | UniProtKB/TrEMBL | |
Cadherin_CS | UniProtKB/TrEMBL | |
ConA-like_subgrp | UniProtKB/TrEMBL | |
EG-like_dom | UniProtKB/TrEMBL | |
EGF-like_Ca-bd_dom | UniProtKB/TrEMBL | |
EGF-type_Asp/Asn_hydroxyl_site | UniProtKB/TrEMBL | |
GAIN_dom_N | UniProtKB/TrEMBL | |
GAIN_dom_sf | UniProtKB/TrEMBL | |
GPCR_2-like | UniProtKB/TrEMBL | |
GPCR_2_extracell_dom_sf | UniProtKB/TrEMBL | |
GPCR_2_extracellular_dom | UniProtKB/TrEMBL | |
GPCR_2_secretin-like | UniProtKB/TrEMBL | |
GPS | UniProtKB/TrEMBL | |
Growth_fac_rcpt_N_dom | UniProtKB/TrEMBL | |
Laminin_EGF | UniProtKB/TrEMBL | |
Laminin_G | UniProtKB/TrEMBL | |
NCBI Gene | 300128 | ENTREZGENE |
PANTHER | CADHERIN-89D | UniProtKB/TrEMBL |
FAT ATYPICAL CADHERIN-RELATED | UniProtKB/TrEMBL | |
Pfam | 7tm_2 | UniProtKB/TrEMBL |
Cadherin | UniProtKB/TrEMBL | |
EGF | UniProtKB/TrEMBL | |
GAIN | UniProtKB/TrEMBL | |
GPS | UniProtKB/TrEMBL | |
HRM | UniProtKB/TrEMBL | |
Laminin_EGF | UniProtKB/TrEMBL | |
Laminin_G_2 | UniProtKB/TrEMBL | |
PhenoGen | Celsr1 | PhenoGen |
PRINTS | CADHERIN | UniProtKB/TrEMBL |
GPCRSECRETIN | UniProtKB/TrEMBL | |
PROSITE | ASX_HYDROXYL | UniProtKB/TrEMBL |
CADHERIN_1 | UniProtKB/TrEMBL | |
CADHERIN_2 | UniProtKB/TrEMBL | |
EGF_1 | UniProtKB/TrEMBL | |
EGF_2 | UniProtKB/TrEMBL | |
EGF_3 | UniProtKB/TrEMBL | |
EGF_LAM_1 | UniProtKB/TrEMBL | |
EGF_LAM_2 | UniProtKB/TrEMBL | |
G_PROTEIN_RECEP_F2_3 | UniProtKB/TrEMBL | |
G_PROTEIN_RECEP_F2_4 | UniProtKB/TrEMBL | |
GPS | UniProtKB/TrEMBL | |
LAM_G_DOMAIN | UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000021285 | RatGTEx |
SMART | EGF | UniProtKB/TrEMBL |
EGF_CA | UniProtKB/TrEMBL | |
EGF_Lam | UniProtKB/TrEMBL | |
GPS | UniProtKB/TrEMBL | |
HormR | UniProtKB/TrEMBL | |
LamG | UniProtKB/TrEMBL | |
SM00112 | UniProtKB/TrEMBL | |
Superfamily-SCOP | Cadherin | UniProtKB/TrEMBL |
ConA_like_lec_gl | UniProtKB/TrEMBL | |
EGF/Laminin | UniProtKB/TrEMBL | |
Family A G protein-coupled receptor-like | UniProtKB/TrEMBL | |
SSF57184 | UniProtKB/TrEMBL | |
UniProt | A6HTF9 | ENTREZGENE, UniProtKB/TrEMBL |
F1MAS4 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2013-02-27 | Celsr1 | cadherin, EGF LAG seven-pass G-type receptor 1 | Celsr1 | cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-04-25 | Celsr1 | cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) | Celsr1 | cadherin EGF LAG seven-pass G-type receptor 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-03-30 | Celsr1 | cadherin EGF LAG seven-pass G-type receptor 1 | LOC300128 | flamingo-like protein celsr1 | Symbol and Name updated | 1299863 | APPROVED |
2006-02-09 | LOC300128 | flamingo-like protein celsr1 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |