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Tbio
AMMECR1
AMME syndrome candidate gene 1 protein

Protein Summary
Description
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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000262844
  • ENSP00000262844
  • ENSG00000101935
  • ENST00000372057
  • ENSP00000361127
  • ENST00000372059
  • ENSP00000361129

Symbol
  • MFHIEN
  • AMMERC1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
co-expressed gene
1
gene perturbation
0.91
microRNA
0.86
transcription factor perturbation
0.8
kinase perturbation
0.6


Related Tools
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 9.89   (req: < 5)
Gene RIFs: 5   (req: <= 3)
Antibodies: 115   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 9.89   (req: >= 5)
Gene RIFs: 5   (req: > 3)
Antibodies: 115   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Term: 0
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
705858
Mouse
MGI:1860206
56068
Rat
RGD:1561004
501539
Dog
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
492063
Horse
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
100054363
Species
Name
OMA
EggNOG
Inparanoid
Macaque
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Mouse
Rat
Dog
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Horse
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q9Y4X0-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Gene Ontology Terms (1)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Protein-Protein Interactions (54)
1 – 10 of 54
HINT1
Tbio
Novelty: 0.00815168
p_int: 0.999580646
p_ni: 0.000009851
p_wrong: 0.000409503
Data Source: BioPlex
HNRNPF
Tbio
Novelty: 0.01833966
p_int: 0.999270831
p_ni: 0.000729169
Score: 0.188
Data Source: BioPlex,STRINGDB
PPIL4
Tdark
Family: Enzyme
Novelty: 0.3737992
p_int: 0.93081937
p_ni: 0.069155897
p_wrong: 0.000024733
Score: 0.252
Data Source: BioPlex,STRINGDB
GFER
Tchem
Family: Enzyme
Novelty: 0.00338563
p_int: 0.896465103
p_ni: 0.103476066
p_wrong: 0.000058832
Score: 0.211
Data Source: BioPlex,STRINGDB
CLP1
Tbio
Family: Enzyme
Novelty: 0.04643806
p_int: 0.881123286
p_ni: 0.118876714
Score: 0.395
Data Source: BioPlex,STRINGDB
TSEN54
Tbio
Family: Enzyme
Novelty: 0.03157812
p_int: 0.800292741
p_ni: 0.199707259
Score: 0.519
Data Source: BioPlex,STRINGDB
ZNF507
Tdark
Family: TF
Novelty: 1.0899905
p_int: 0.758649268
p_ni: 0.24116986
p_wrong: 0.000180872
Score: 0.453
Data Source: BioPlex,STRINGDB
ACSL4
Tbio
Family: Enzyme
Novelty: 0.0072645
Score: 0.921
Data Source: STRINGDB
COL4A5
Tbio
Novelty: 0.00283701
Score: 0.833
Data Source: STRINGDB
KCNE5
Tbio
Novelty: 0.06395873
Score: 0.807
Data Source: STRINGDB
Publication Statistics
PubMed Score  9.89

PubMed score by year
PubTator Score  5.48

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer