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
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
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
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt Q9Y4X0
TrEMBL
UniProt Splice Variant
Entrez Gene 9949
UniGene Hs.656243 Hs.708477
RefSeq NM_001171689 NM_001025580 NM_015365
HUGO HGNC:467
OMIM 300195
CCDS CCDS55476 CCDS14551 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
RNA Seq Atlas 9949