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Aliases for AMMECR1 Gene

Aliases for AMMECR1 Gene

  • Alport Syndrome, Mental Retardation, Midface Hypoplasia And Elliptocytosis Chromosomal Region Gene 1 2 3
  • AMME Syndrome Candidate Gene 1 Protein 3
  • AMMERC1 3

External Ids for AMMECR1 Gene

Summaries for AMMECR1 Gene

Entrez Gene Summary for AMMECR1 Gene

  • 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]

GeneCards Summary for AMMECR1 Gene

AMMECR1 (Alport Syndrome, Mental Retardation, Midface Hypoplasia And Elliptocytosis Chromosomal Region Gene 1) is a Protein Coding gene. Diseases associated with AMMECR1 include alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis and alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis. An important paralog of this gene is AMMECR1L.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMMECR1 Gene

Genomics for AMMECR1 Gene

Genomic Location for AMMECR1 Gene

Start:
110,194,186 bp from pter
End:
110,440,233 bp from pter
Size:
246,048 bases
Orientation:
Minus strand

Genomic View for AMMECR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AMMECR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMMECR1 Gene

Regulatory Elements for AMMECR1 Gene

Proteins for AMMECR1 Gene

  • Protein details for AMMECR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4X0-AMMR1_HUMAN
    Recommended name:
    AMME syndrome candidate gene 1 protein
    Protein Accession:
    Q9Y4X0
    Secondary Accessions:
    • Q5JYV9
    • Q6P9D8
    • Q8WX22
    • Q9UIQ8

    Protein attributes for AMMECR1 Gene

    Size:
    333 amino acids
    Molecular mass:
    35463 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AMMECR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMMECR1 Gene

Proteomics data for AMMECR1 Gene at MOPED

Post-translational modifications for AMMECR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AMMECR1 Gene

No data available for DME Specific Peptides for AMMECR1 Gene

Domains for AMMECR1 Gene

Protein Domains for AMMECR1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

AMMR1_HUMAN
Domain:
  • Contains 1 AMMECR1 domain.:
    • Q9Y4X0
genes like me logo Genes that share domains with AMMECR1: view

No data available for Gene Families for AMMECR1 Gene

Function for AMMECR1 Gene

Molecular function for AMMECR1 Gene

GENATLAS Biochemistry: highly conserved nuclear protein deleted in the AMME contiguous gene syndrome

Gene Ontology (GO) - Molecular Function for AMMECR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 21304492
genes like me logo Genes that share ontologies with AMMECR1: view

Phenotypes for AMMECR1 Gene

MGI mutant phenotypes for AMMECR1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with AMMECR1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for AMMECR1 Gene

Localization for AMMECR1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMMECR1 Gene COMPARTMENTS Subcellular localization image for AMMECR1 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 4
endoplasmic reticulum 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AMMECR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with AMMECR1: view

Pathways for AMMECR1 Gene

SuperPathways for AMMECR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AMMECR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with AMMECR1: view

No data available for Pathways by source for AMMECR1 Gene

Transcripts for AMMECR1 Gene

Unigene Clusters for AMMECR1 Gene

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AMMECR1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1: -
SP2: - -
SP3:

Relevant External Links for AMMECR1 Gene

GeneLoc Exon Structure for
AMMECR1
ECgene alternative splicing isoforms for
AMMECR1

Expression for AMMECR1 Gene

mRNA expression in normal human tissues for AMMECR1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AMMECR1 Gene

SOURCE GeneReport for Unigene cluster for AMMECR1 Gene Hs.656243

genes like me logo Genes that share expressions with AMMECR1: view

Orthologs for AMMECR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AMMECR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMMECR1 36
  • 100 (n)
  • 100 (a)
AMMECR1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AMMECR1 36
  • 97.62 (n)
  • 100 (a)
AMMECR1 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMMECR1 36
  • 96.89 (n)
  • 98.19 (a)
AMMECR1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ammecr1 36
  • 92.81 (n)
  • 95.44 (a)
Ammecr1 16
Ammecr1 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMMECR1 37
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 65 (a)
OneToMany
-- 37
  • 99 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ammecr1 36
  • 93.21 (n)
  • 95.74 (a)
chicken
(Gallus gallus)
Aves AMMECR1 36
  • 92.54 (n)
  • 97.14 (a)
AMMECR1 37
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMMECR1 37
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25825 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ammecr1 36
  • 87.69 (n)
  • 96.73 (a)
Str.5849 36
zebrafish
(Danio rerio)
Actinopterygii ammecr1 36
  • 83.33 (n)
  • 95.79 (a)
ammecr1 37
  • 73 (a)
OneToOne
zgc66100 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000328 36
  • 61.78 (n)
  • 68.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5902 36
  • 63.19 (n)
  • 67.19 (a)
CG5902 37
  • 56 (a)
OneToMany
CG5902 38
  • 67 (a)
worm
(Caenorhabditis elegans)
Secernentea R166.3 36
  • 52.99 (n)
  • 47.18 (a)
R166.3 37
  • 46 (a)
OneToMany
R166.3 38
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
  • 29 (a)
OneToMany
-- 39
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G38710 36
  • 55.97 (n)
  • 55.08 (a)
rice
(Oryza sativa)
Liliopsida Os10g0573100 36
  • 58.16 (n)
  • 52.13 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11770 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9118 37
  • 49 (a)
OneToMany
Species with no ortholog for AMMECR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AMMECR1 Gene

ENSEMBL:
Gene Tree for AMMECR1 (if available)
TreeFam:
Gene Tree for AMMECR1 (if available)

Paralogs for AMMECR1 Gene

Paralogs for AMMECR1 Gene

Selected SIMAP similar genes for AMMECR1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with AMMECR1: view

Variants for AMMECR1 Gene

Sequence variations from dbSNP and Humsavar for AMMECR1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs11265 -- 110,346,726(-) GACCC(C/T)AGAAA intron-variant
rs752462 -- 110,416,973(-) TCCCC(A/C)AAAAA intron-variant
rs760953 -- 110,366,771(+) aaaag(C/T)ttata intron-variant
rs764171 -- 110,302,165(-) GAAAG(A/T)AGGTA intron-variant
rs996180 -- 110,364,506(+) ATTTG(G/T)TTTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AMMECR1 Gene

Variant ID Type Subtype PubMed ID
nsv518116 CNV Gain 19592680
nsv7036 CNV Loss 18451855
dgv2464e1 CNV Complex 17122850
nsv438150 CNV Loss 16468122

Relevant External Links for AMMECR1 Gene

HapMap Linkage Disequilibrium report
AMMECR1
Locus Specific Mutation Databases (LSDB)
AMMECR1

Disorders for AMMECR1 Gene

UniProtKB/Swiss-Prot

AMMR1_HUMAN
  • 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.

(2) University of Copenhagen DISEASES for AMMECR1 Gene

genes like me logo Genes that share disorders with AMMECR1: view

Publications for AMMECR1 Gene

  1. Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). (PMID: 10049589) Vitelli F. … Renieri A. (Genomics 1999) 2 3 4
  2. FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. (PMID: 9480748) Piccini M. … Renieri A. (Genomics 1998) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4

Products for AMMECR1 Gene

Sources for AMMECR1 Gene

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