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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 5
  • Alport Syndrome Mental Retardation Midface Hypoplasia And Elliptocytosis Chromosomal Region Protein 1 3
  • AMMERC1 3

External Ids for AMMECR1 Gene

Previous GeneCards Identifiers for AMMECR1 Gene

  • GC0XM104744
  • GC0XM106586
  • GC0XM107464
  • GC0XM108205
  • GC0XM108203
  • GC0XM109247
  • GC0XM109437
  • GC0XM099058

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 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

Regulatory Elements for AMMECR1 Gene

Enhancers for AMMECR1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AMMECR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AMMECR1 Gene

110,194,186 bp from pter
110,440,233 bp from pter
246,048 bases
Minus strand

Genomic View for AMMECR1 Gene

Genes around AMMECR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMMECR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMMECR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMMECR1 Gene

Proteins for AMMECR1 Gene

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

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

    Protein attributes for AMMECR1 Gene

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

    Alternative splice isoforms for AMMECR1 Gene


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

Antibody Products

No data available for DME Specific Peptides for AMMECR1 Gene

Domains & Families for AMMECR1 Gene

Protein Domains for AMMECR1 Gene


Graphical View of Domain Structure for InterPro Entry



  • Contains 1 AMMECR1 domain.
  • Contains 1 AMMECR1 domain.
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
genes like me logo Genes that share phenotypes with AMMECR1: view

Human Phenotype Ontology for AMMECR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for AMMECR1 Gene

Localization for AMMECR1 Gene

Subcellular locations from

Jensen Localization Image for AMMECR1 Gene COMPARTMENTS Subcellular localization image for AMMECR1 gene
Compartment Confidence
cytosol 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for AMMECR1 Gene

Pathways & Interactions for AMMECR1 Gene

SuperPathways for AMMECR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AMMECR1 Gene


No data available for Pathways by source and SIGNOR curated interactions for AMMECR1 Gene

Drugs & Compounds for AMMECR1 Gene

No Compound Related Data Available

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: - -

Relevant External Links for AMMECR1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AMMECR1 Gene

mRNA expression in normal human tissues for AMMECR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AMMECR1 Gene

This gene is overexpressed in Placenta (53.3) and Fetal testis (15.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with AMMECR1: view

Protein tissue co-expression partners for AMMECR1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AMMECR1 Gene

Orthologs for AMMECR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AMMECR1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia AMMECR1 35
  • 97.62 (n)
  • 100 (a)
  • 95 (a)
(Canis familiaris)
Mammalia AMMECR1 35
  • 96.89 (n)
  • 98.19 (a)
  • 99 (a)
(Mus musculus)
Mammalia Ammecr1 35
  • 92.81 (n)
  • 95.44 (a)
Ammecr1 16
Ammecr1 36
  • 90 (a)
(Pan troglodytes)
Mammalia AMMECR1 35
  • 100 (n)
  • 100 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Ammecr1 35
  • 93.21 (n)
  • 95.74 (a)
(Monodelphis domestica)
Mammalia AMMECR1 36
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 65 (a)
-- 36
  • 99 (a)
(Gallus gallus)
Aves AMMECR1 35
  • 92.54 (n)
  • 97.14 (a)
  • 97 (a)
(Anolis carolinensis)
Reptilia AMMECR1 36
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ammecr1 35
  • 87.69 (n)
  • 96.73 (a)
Str.5849 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.25825 35
(Danio rerio)
Actinopterygii ammecr1 35
  • 83.33 (n)
  • 95.79 (a)
zgc66100 35
ammecr1 36
  • 73 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5902 37
  • 67 (a)
CG5902 35
  • 63.19 (n)
  • 67.19 (a)
CG5902 36
  • 56 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000328 35
  • 61.78 (n)
  • 68.59 (a)
(Caenorhabditis elegans)
Secernentea R166.3 37
  • 46 (a)
R166.3 35
  • 52.99 (n)
  • 47.18 (a)
R166.3 36
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 29 (a)
-- 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G38710 35
  • 55.97 (n)
  • 55.08 (a)
(Oryza sativa)
Liliopsida Os10g0573100 35
  • 58.16 (n)
  • 52.13 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11770 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9118 36
  • 49 (a)
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

Gene Tree for AMMECR1 (if available)
Gene Tree for AMMECR1 (if available)

Paralogs for AMMECR1 Gene

Paralogs for AMMECR1 Gene

(1) 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
rs747702485 -- 110,254,201(+) TACAT(C/T)GGTAC intron-variant
rs747749297 -- 110,199,255(+) TTCCA(C/T)TTGCC intron-variant
rs747787227 -- 110,262,132(+) ACTTT(A/T)AAAAA intron-variant
rs747821359 -- 110,342,113(+) TAAAT(-/A)AAAAA intron-variant
rs747838638 -- 110,277,768(+) AATGA(A/T)ATTTA 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

Variation tolerance for AMMECR1 Gene

Residual Variation Intolerance Score: 52.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.55; 11.93% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for AMMECR1 Gene

Disorders for AMMECR1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AMMECR1 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alport syndrome
  • hereditary nephritis
alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
  • amme complex
alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
  • alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
non-syndromic x-linked intellectual disability
  • mrx
- elite association - COSMIC cancer census association via MalaCards


  • 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. {ECO:0000269 PubMed:10049589}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Relevant External Links for AMMECR1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AMMECR1: view

No data available for Genatlas for AMMECR1 Gene

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 67
  2. A highly conserved family of domains related to the DNA-glycosylase fold helps predict multiple novel pathways for RNA modifications. (PMID: 24646681) Burroughs A.M. … Aravind L. (RNA Biol 2014) 2 3
  3. 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
  4. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X. … Vidal M. (Cell 2016) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for AMMECR1 Gene

Sources for AMMECR1 Gene