Version 5.4
Homo sapiens Protein: AMMECR1
Summary
InnateDB Protein IDBP-82374.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AMMECR1
Protein Name Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Synonyms AMMERC1;
Species Homo sapiens
Ensembl Protein ENSP00000361129
InnateDB Gene IDBG-82370 (AMMECR1)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]: A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis. Note=The gene represented in this entry may be involved in disease pathogenesis.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated
Total 12 [view]
Protein-Protein 9 [view]
Protein-DNA 2 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0008150 biological_process
Cellular Component
GO:0005575 cellular_component
Protein Structure and Domains
PDB ID
InterPro IPR002733 AMMECR1 domain
PFAM PF01871
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y4X0
PhosphoSite PhosphoSite-Q9Y4X0
TrEMBL
UniProt Splice Variant
Entrez Gene 9949
UniGene Hs.708477
RefSeq NP_001020751
HUGO HGNC:467
OMIM 300195
CCDS CCDS35368
HPRD 02182
IMGT
EMBL AJ007014 AJ012221 AJ012222 AJ012223 AJ012224 AJ012225 AJ012226 AJ012227 AK091430 AL031319 AL079334 AL359079 BC060813
GenPept AAH60813 BAG52359 CAB45546 CAB58122 CAB58123 CAI41539 CAI41540 CAI42537 CAI42538 CAI42703 CAI42704

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca