AMMECR1

GENERAL INFORMATION

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Gene name

AMMECR1

Gene description

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Glandular cells in stomach, hepatocytes, renal tubules, Purkinje cells and smooth muscle cells showed strong cytoplasmic positivity with occasional nuclear staining. Cilia in fallopian tubes exhibited strong immunoreactivity. Molecular layer in cerebellum, exocrine pancreas, bile ducts, thyroid, adrenal glands, small intestine and Leydig cells displayed weak to moderate cytoplasmic positivity. Other normal tissues were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA051762
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Cerebellum

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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Gene name

AMMECR1

Synonyms

Description

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

X

Cytoband

q23

Chromosome location (bp)

110194186 - 110440233

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000101935 (version 78.38)

Entrez gene

9949

UniProt

Q9Y4X0 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y4X0

Antibodypedia

AMMECR1 antibodies


PROTEIN BROWSER

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ENST00000262844
 
ENST00000372057
 
ENST00000372059
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AMMECR1-001 ENSP00000262844
ENST00000262844
Q9Y4X0
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Show » Show » 333 35.5 No 0
AMMECR1-002 ENSP00000361127
ENST00000372057
Q9Y4X0
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Show » Show » 210 24.6 No 0
AMMECR1-005 ENSP00000361129
ENST00000372059
Q9Y4X0
Show all »
Show » Show » 296 31.3 No 0