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 th... See more...

Aliases for AMMECR1 Gene

Aliases for AMMECR1 Gene

  • AMMECR Nuclear Protein 1 2 3 5
  • Alport Syndrome, Mental Retardation, Midface Hypoplasia And Elliptocytosis Chromosomal Region Gene 1 2 3
  • AMME Syndrome Candidate Gene 1 Protein 3 4
  • Alport Syndrome Mental Retardation Midface Hypoplasia And Elliptocytosis Chromosomal Region Protein 1 3
  • AMMERC1 3
  • AMMECR1 5
  • 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 (AMMECR Nuclear Protein 1) is a Protein Coding gene. Diseases associated with AMMECR1 include Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis and Amme Complex. An important paralog of this gene is AMMECR1L.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMMECR1 Gene

Genomics for AMMECR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH0XJ110315 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.1 +123.0 123022 4.8 RNF2 PRDM10 ZNF512 IKZF1 POLR2A PRDM1 RBFOX2 PATZ1 IKZF2 BRD9 LOC105373312 lnc-CHRDL1-2 lnc-RTL9-6 AMMECR1 RTL9 AMMECR1-IT1 LOC101928589
GH0XJ110438 Enhancer 0.2 Ensembl 600.7 +0.7 732 1.4 AMMECR1 CHRDL1 RTL9
GH0XJ109536 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.7 +903.0 903024 2.4 CEBPG CREB1 ZNF629 TFE3 SIX5 ZNF692 POLR2A BACH1 FOXA1 GABPA NXT2 KCNE5 AMMECR1 ACSL4 piR-36875
GH0XJ110408 Enhancer 0.9 Ensembl ENCODE 13.5 +30.1 30146 2.6 PRDM10 ZNF629 IKZF1 JUND CTCF SCRT2 HMBOX1 CTBP1 NFE2 FOXK2 AMMECR1 RTL9
GH0XJ110412 Enhancer 0.7 ENCODE 13.5 +26.8 26804 0.9 CREB1 CTCF IKZF1 ZNF143 PATZ1 REST RAD21 BRD9 TRIM22 ZNF600 AMMECR1 RTL9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMMECR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMMECR1

Top Transcription factor binding sites by QIAGEN in the AMMECR1 gene promoter:
  • AP-4
  • Egr-4
  • FAC1
  • GATA-3
  • GCNF
  • GCNF-1
  • GCNF-2
  • Pbx1a
  • RelA
  • STAT5B

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)
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

Gene Families for AMMECR1 Gene

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

Protein Domains for AMMECR1 Gene

Suggested Antigen Peptide Sequences for AMMECR1 Gene

GenScript: Design optimal peptide antigens:
  • AMME syndrome candidate gene 1 protein (AMER1_HUMAN)
  • cDNA FLJ34111 fis, clone FCBBF3008748, highly similar to AMME syndrome candidate gene 1 protein homolog (Q5JYV9_HUMAN)
genes like me logo Genes that share domains with AMMECR1: view

No data available for Graphical View of Domain Structure 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

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMMECR1

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
mitochondrion 4
cytoskeleton 1
cytosol 1
extracellular 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Mitochondria (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMMECR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 27811305
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with AMMECR1: view

Pathways & Interactions for AMMECR1 Gene

PathCards logo

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

mRNA/cDNA for AMMECR1 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMMECR1

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

Expression for AMMECR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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 30 31
  • 100 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 99 (a)
OneToMany
-- 31
  • 65 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia AMMECR1 30 31
  • 97.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AMMECR1 30 31
  • 96.89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ammecr1 30
  • 93.21 (n)
Mouse
(Mus musculus)
Mammalia Ammecr1 30 17 31
  • 92.81 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AMMECR1 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AMMECR1 30 31
  • 92.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AMMECR1 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ammecr1 30
  • 87.69 (n)
Str.5849 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25825 30
Zebrafish
(Danio rerio)
Actinopterygii ammecr1 30 31
  • 83.33 (n)
OneToOne
zgc66100 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG5902 30 31 32
  • 63.19 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000328 30
  • 61.78 (n)
Worm
(Caenorhabditis elegans)
Secernentea R166.3 30 31 32
  • 52.99 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 29 (a)
OneToMany
-- 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G38710 30
  • 55.97 (n)
Rice
(Oryza sativa)
Liliopsida Os10g0573100 30
  • 58.16 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9118 31
  • 49 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.11770 30
Species where no ortholog for AMMECR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for AMMECR1: view image

Paralogs for AMMECR1 Gene

Paralogs for AMMECR1 Gene

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

  • AMMR1_HUMAN
genes like me logo Genes that share paralogs with AMMECR1: view

Variants for AMMECR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMMECR1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
721778 Likely Benign: not provided 110,201,019(-) T/C SYNONYMOUS_VARIANT
746580 Benign: not provided 110,202,486(-) T/C SYNONYMOUS_VARIANT
756504 Likely Benign: not provided 110,318,060(-) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT
759156 Likely Benign: not provided 110,318,054(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
763992 Likely Benign: not provided 110,200,980(-) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for AMMECR1 Gene

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

(7) MalaCards diseases for AMMECR1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
  • mfhien
amme complex
  • alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
alport syndrome
  • thin basement membrane nephropathy
nephrocalcinosis
  • hypercalcemic nephropathy
opitz-kaveggia syndrome
  • oks
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AMMR1_HUMAN
  • 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.
  • Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]: An 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.
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
  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
  3. X-linked elliptocytosis with impaired growth is related to mutated AMMECR1. (PMID: 28089922) Basel-Vanagaite L … Shomron N (Gene 2017) 3 4
  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
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4

Products for AMMECR1 Gene

Sources for AMMECR1 Gene