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

AMMECR1 Gene(Protein Coding)

Alport Syndrome, Mental Retardation, Midface Hypoplasia And Elliptocytosis Chromosomal Region Gene 1

GCID:
GC0XM110194
GIFtS:
54

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, Mental Retardation, Midface Hypoplasia, And Elliptocytosis. An important paralog of this gene is AMMECR1L.

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

Regulatory Elements for AMMECR1 Gene

Enhancers for AMMECR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG110412 1.1 Ensembl ENCODE 13.5 +26.8 26835 1.0 CTCF NFIB ZMYM3 ZNF2 RAD21 ZFHX2 GLIS2 PATZ1 ZNF143 SMC3 AMMECR1 RTL9 GC0XM110384 GC0XP110441
GH0XG110408 1.1 Ensembl ENCODE 13.5 +30.1 30147 2.6 ATF1 TCF12 SCRT2 FOS CREM ZEB2 ZNF592 MEF2D IKZF1 NR2C1 AMMECR1 RTL9 GC0XM110384 GC0XP110441
GH0XG110413 0.9 Ensembl ENCODE 13.6 +24.6 24618 3.4 ZNF146 NFIA ZMYM3 JUNB ATF2 FOSL1 ARID1B NFIC CREB1 ZNF143 AMMECR1 RTL9 GC0XP110441 GC0XM110384
GH0XG110409 0.6 ENCODE 12.3 +31.9 31906 0.2 CTCF ZNF654 TRIM22 REST RAD21 EGR1 IKZF1 SCRT2 SMC3 AMMECR1 GC0XM110384 GC0XP110441
GH0XG110244 0.5 FANTOM5 2.5 +195.9 195921 0.1 CTCF AMMECR1 SNORD96B GC0XM110227 AMMECR1-IT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AMMECR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AMMECR1 Gene

Chromosome:
X
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

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

  • 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 & Families for AMMECR1 Gene

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 Gene Families and 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

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
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

Inhibitory RNA 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

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:0005575 cellular_component ND --
GO:0005634 nucleus IDA 27811305
genes like me logo Genes that share ontologies with AMMECR1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:

CRISPR Products

Inhibitory RNA Products

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

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
chimpanzee
(Pan troglodytes)
Mammalia AMMECR1 34 35
  • 100 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 99 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
cow
(Bos Taurus)
Mammalia AMMECR1 34 35
  • 97.62 (n)
dog
(Canis familiaris)
Mammalia AMMECR1 34 35
  • 96.89 (n)
rat
(Rattus norvegicus)
Mammalia Ammecr1 34
  • 93.21 (n)
mouse
(Mus musculus)
Mammalia Ammecr1 34 16 35
  • 92.81 (n)
oppossum
(Monodelphis domestica)
Mammalia AMMECR1 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMMECR1 34 35
  • 92.54 (n)
lizard
(Anolis carolinensis)
Reptilia AMMECR1 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ammecr1 34
  • 87.69 (n)
Str.5849 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.25825 34
zebrafish
(Danio rerio)
Actinopterygii ammecr1 34 35
  • 83.33 (n)
zgc66100 34
fruit fly
(Drosophila melanogaster)
Insecta CG5902 36 34 35
  • 63.19 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000328 34
  • 61.78 (n)
worm
(Caenorhabditis elegans)
Secernentea R166.3 36 34 35
  • 52.99 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 29 (a)
OneToMany
-- 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G38710 34
  • 55.97 (n)
rice
(Oryza sativa)
Liliopsida Os10g0573100 34
  • 58.16 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9118 35
  • 49 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11770 34
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 Sequence Context AA Info Type
VAR_078027 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) [MIM:300990]
rs1057519337 Pathogenic 110,264,543(-) CATAG(A/G)TACTT intron-variant, reference, missense
rs1057519338 Pathogenic 110,264,571(-) TTGGT(C/T)GAGAC intron-variant, reference, stop-gained
rs1000003600 -- 110,352,381(+) AATAC(G/T)GATAC intron-variant
rs1000014040 -- 110,282,224(+) TCTTA(C/G)AATTC 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)

Relevant External Links 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: 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.

Relevant External Links for AMMECR1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 64
  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 64
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. 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 64

Products for AMMECR1 Gene

Sources for AMMECR1 Gene

Content
Loading form....