Expression of AMMECR1 in cancer - Summary - The Human Protein Atlas

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AMMECR1

TISSUE

CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

GENERAL INFORMATION
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

RNA category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Expressed in all
HPA (normal tissue):	Mixed

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Mainly cytoplasmic expression in several tissue types.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data. Pending external verification. Caution, targets protein from more than one gene.
Reliability score	Uncertain based on 2 antibodies. HPA000590 , HPA051762
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PROGNOSTIC SUMMARY
Prognostic marker in ovarian cancer (favourable) and thyroid cancer (favourable).
Ovarian cancer p<0.001 Thyroid cancer p<0.001 Show all

RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

HPA000590	HPA051762

GENE INFORMATION
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 83.38)
Entrez gene	9949
UniProt	Q9Y4X0 (UniProt - Evidence at protein level)
neXtProt	NX_Q9Y4X0
Antibodypedia	AMMECR1 antibodies

PROTEIN BROWSER

AMMECR1-001	AMMECR1-002	AMMECR1-005

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
AMMECR1-001 ENSP00000262844 ENST00000262844	Q9Y4X0 [Direct mapping] AMME syndrome candidate gene 1 protein Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003674 [molecular_function] GO:0005515 [protein binding] GO:0005575 [cellular_component] GO:0008150 [biological_process] Show all	333 aa 35.5 kDa	No	0
AMMECR1-002 ENSP00000361127 ENST00000372057	Q9Y4X0 [Direct mapping] AMME syndrome candidate gene 1 protein Show all	Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0003674 [molecular_function] GO:0005515 [protein binding] GO:0005575 [cellular_component] GO:0008150 [biological_process] Show all	210 aa 24.6 kDa	No	0
AMMECR1-005 ENSP00000361129 ENST00000372059	Q9Y4X0 [Direct mapping] AMME syndrome candidate gene 1 protein Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003674 [molecular_function] GO:0005515 [protein binding] GO:0005575 [cellular_component] GO:0008150 [biological_process] Show all	296 aa 31.3 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.