Free for academic non-profit institutions. Other users need a Commercial license

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
  • AMME Syndrome Candidate Gene 1 Protein 3
  • AMMERC1 3
  • MFHIEN 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 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis and Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome. An important paralog of this gene is AMMECR1L.

Additional gene information for AMMECR1 Gene

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

Genomics for AMMECR1 Gene

GeneHancer (GH) Regulatory Elements for AMMECR1 Gene

Promoters and enhancers for AMMECR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI110315 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.1 +122.9 122870 3.5 SIN3A FEZF1 GLI4 ZNF2 YY1 POLR2B ZNF766 GLIS2 ZNF213 ATF7 LOC105373312 AMMECR1 RTL9 AMMECR1-IT1
GH0XI110440 Promoter 0.6 EPDnew 550.8 0.0 -20 0.1 HNF4A AMMECR1 GC0XP110440 GC0XP110441 RTL9 TDGF1P3
GH0XI110001 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.6 +436.8 436846 4.5 HDGF PKNOX1 ARNT ZNF2 POLR2B ZNF766 ZNF143 ZNF548 ZNF263 SP3 TMEM164 AMMECR1 GC0XP110056
GH0XI109536 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.7 +903.0 902963 2.3 PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 YY1 NXT2 KCNE5 AMMECR1 ACSL4 PIR59920
GH0XI110412 Enhancer 1 Ensembl ENCODE 13.5 +26.8 26834 1 CTCF ZMYM3 ZNF2 RAD21 CC2D1A ZFHX2 GLIS2 ARID2 BRD9 PATZ1 AMMECR1 RTL9 GC0XM110384 GC0XP110441
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AMMECR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AMMECR1 gene promoter:

Genomic Locations for AMMECR1 Gene

Genomic Locations for AMMECR1 Gene
chrX:110,194,186-110,440,233
(GRCh38/hg38)
Size:
246,048 bases
Orientation:
Minus strand
chrX:109,437,414-109,683,461
(GRCh37/hg19)

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:
    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

Post-translational modifications for AMMECR1 Gene

No Post-translational modifications

Other Protein References for AMMECR1 Gene

No data available for DME Specific Peptides for AMMECR1 Gene

Domains & Families for AMMECR1 Gene

Gene Families for AMMECR1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for AMMECR1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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

Phenotypes From GWAS Catalog for AMMECR1 Gene

Gene Ontology (GO) - Molecular Function for AMMECR1 Gene

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

Clone Products

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

Localization for AMMECR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMMECR1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMMECR1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for AMMECR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 27811305
genes like me logo Genes that share ontologies with AMMECR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AMMECR1 Gene

Pathways & Interactions 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 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for AMMECR1 Gene



Protein tissue co-expression partners for AMMECR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AMMECR1 Gene:

AMMECR1

SOURCE GeneReport for Unigene cluster for AMMECR1 Gene:

Hs.656243

Evidence on tissue expression from TISSUES for AMMECR1 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AMMECR1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urinary bladder
Limb:
  • digit
  • finger
  • hand
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with AMMECR1: view

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
chimpanzee
(Pan troglodytes)
Mammalia AMMECR1 33 34
  • 100 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 99 (a)
OneToMany
-- 34
  • 65 (a)
OneToMany
cow
(Bos Taurus)
Mammalia AMMECR1 33 34
  • 97.62 (n)
dog
(Canis familiaris)
Mammalia AMMECR1 33 34
  • 96.89 (n)
rat
(Rattus norvegicus)
Mammalia Ammecr1 33
  • 93.21 (n)
mouse
(Mus musculus)
Mammalia Ammecr1 33 16 34
  • 92.81 (n)
oppossum
(Monodelphis domestica)
Mammalia AMMECR1 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMMECR1 33 34
  • 92.54 (n)
lizard
(Anolis carolinensis)
Reptilia AMMECR1 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ammecr1 33
  • 87.69 (n)
Str.5849 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25825 33
zebrafish
(Danio rerio)
Actinopterygii ammecr1 33 34
  • 83.33 (n)
zgc66100 33
fruit fly
(Drosophila melanogaster)
Insecta CG5902 35 33 34
  • 63.19 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000328 33
  • 61.78 (n)
worm
(Caenorhabditis elegans)
Secernentea R166.3 35 33 34
  • 52.99 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 29 (a)
OneToMany
-- 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G38710 33
  • 55.97 (n)
rice
(Oryza sativa)
Liliopsida Os10g0573100 33
  • 58.16 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9118 34
  • 49 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11770 33
Species where no ortholog for AMMECR1 was found in the sources mined by GeneCards:
  • 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

(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 Variation AA Info Type
rs1057519337 pathogenic, Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) [MIM:300990] 110,264,543(-) C/T coding_sequence_variant, intron_variant, missense_variant
rs1057519338 pathogenic, Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 110,264,571(-) G/A coding_sequence_variant, intron_variant, stop_gained
rs765498367 pathogenic, Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 110,317,643(-) A/G/T coding_sequence_variant, stop_gained, synonymous_variant
rs1000003600 -- 110,352,381(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000014040 -- 110,282,224(-) G/C intron_variant

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

Variant ID Type Subtype PubMed ID
esv2758884 CNV loss 17122850
nsv438150 CNV loss 16468122
nsv476905 CNV novel sequence insertion 20440878
nsv518116 CNV gain 19592680
nsv7036 CNV deletion 18451855

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)

Additional Variant Information for AMMECR1 Gene

Human Gene Mutation Database (HGMD)
AMMECR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMMECR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMMECR1 Gene

Disorders for AMMECR1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AMMECR1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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. {ECO:0000269 PubMed:10049589}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) [MIM:300990]: An X-linked recessive disorder with onset in early childhood, characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Variable clinical features include anemia, and mild early motor or speech delay. {ECO:0000269 PubMed:27811305, ECO:0000269 PubMed:28089922}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AMMECR1

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 58
  2. AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. (PMID: 27811305) Andreoletti G … Ennis S (Journal of medical genetics 2017) 3 4 58
  3. X-linked elliptocytosis with impaired growth is related to mutated AMMECR1. (PMID: 28089922) Basel-Vanagaite L … Shomron N (Gene 2017) 3 4 58
  4. A highly conserved family of domains related to the DNA-glycosylase fold helps predict multiple novel pathways for RNA modifications. (PMID: 24646681) Burroughs AM … Aravind L (RNA biology 2014) 2 3 58
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58

Products for AMMECR1 Gene

Sources for AMMECR1 Gene

Content
Loading form....