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

• Q9Y4X0
• Q5JYV9
• Q6P9D8
• Q8WX22
• Q9UIQ8

Gene Name

• AMMECR1

Ensembl ID

• ENST00000262844
• ENSP00000262844
• ENSG00000101935
• ENST00000372057
• ENSP00000361127
• ENST00000372059
• ENSP00000361129

Symbol

• MFHIEN
• AMMERC1

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

Protein Classes

No PANTHER Classes or DTO Classes found

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

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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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.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (54)

Explore Interacting Targets

1 – 10 of 54

• See Interactions on String-DB

HINT1

Tchem

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

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (0)

No pathways found

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (1)

Components (1)

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GO Term	Evidence	Assigned by
nucleus	Inferred from Direct Assay (IDA)	UniProtKB

Disease Associations ()

No disease associations found

GWAS Traits (5)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 5

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
low density lipoprotein cholesterol measurement	EFO_0004611	2	3	5		95.4
triglyceride measurement	EFO_0004530	1	2	4		81.4
total cholesterol measurement	EFO_0004574	1	2	4		80.4
testosterone measurement	EFO_0004908	3	2	3		67.4
mean corpuscular volume	EFO_0004526	1	1	1		40.6

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 5

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
low density lipoprotein cholesterol measurement	EFO_0004611	5		95.4
triglyceride measurement	EFO_0004530	4		81.4
total cholesterol measurement	EFO_0004574	4		80.4
testosterone measurement	EFO_0004908	3		67.4
mean corpuscular volume	EFO_0004526	1		40.6

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Alport syndrome
Alternative splicing
Complete proteome
Deafness
Disease mutation
Elliptocytosis
Hereditary hemolytic anemia
Mental retardation
Nucleus
Phosphoprotein

GWAS Trait Find Similar Targets

No Header	No Header
low density lipoprotein cholesterol measurement
mean corpuscular volume
testosterone measurement
total cholesterol measurement
triglyceride measurement

IDG Resources

No IDG generated resources found

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	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	MGI:1860206	56068
Rat	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	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	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Rat	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
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

Publication Statistics

PubMed Score 9.89

PubMed score by year

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PubTator Score 5.48

PubTator score by year

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Related Publications

Text Mined References (17)

GeneRif Annotations (5)

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PMID	Year	Title