Version 5.4
Homo sapiens Gene: AMMECR1
Summary
InnateDB Gene IDBG-82370.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AMMECR1
Gene Name Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Synonyms AMMERC1
Species Homo sapiens
Ensembl Gene ENSG00000101935
Encoded Proteins
IDBP-82372
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
IDBP-82374
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
IDBP-82376
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome X:110194186-110440233
Strand Reverse strand
Band q23
Transcripts
ENST00000262844 ENSP00000262844
ENST00000372059 ENSP00000361129
ENST00000372057 ENSP00000361127
ENST00000473662
ENST00000496695
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000042225
View Gene Order
ENSBTAG00000022288
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.656243 Hs.708477
RefSeq NM_001025580 NM_001171689 NM_015365
HUGO
OMIM
CCDS CCDS14551 CCDS35368 CCDS55476
HPRD 02182
IMGT
EMBL
GenPept
RNA Seq Atlas

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