Version 5.4
Mus musculus Gene: Ammecr1
Summary
InnateDB Gene IDBG-176603.7
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 6230420G18Rik
Species Mus musculus
Ensembl Gene ENSMUSG00000042225
Encoded Proteins
IDBP-176605
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 homolog (human)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000101935:
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:142851146-142966728
Strand Reverse strand
Band F2
Transcripts
ENSMUST00000041317 ENSMUSP00000036085
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
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
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000101935
View Gene Order
ENSBTAG00000022288
Not yet available
Cross-References
SwissProt Q9JHT5
TrEMBL
UniProt Splice Variant
Entrez Gene 56068
UniGene Mm.143724 Mm.409950
RefSeq NM_019496
OMIM
CCDS CCDS30452
HPRD
IMGT
MGI ID MGI:1860206
MGI Symbol Ammecr1
EMBL AJ243485 AK051736
GenPept BAC34745 CAB95767
RNA Seq Atlas 56068

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