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GENE AND PROTEIN SUMMARY

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Gene name

AMMECR1

Description

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

Protein class

Mapped to UniProt SWISS-PROT

Protein evidence

Only RNA

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

3 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli

Additional location(s)

 

Staining summary

Staining of nucleus in A-431.

Reliability (Single)

Antibodies in assay

HPA051762
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

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.

Tissue specificity

Staining in 22 out of 79 cell types

Reliability (Single)

Antibodies in assay

HPA051762
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 1
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 12
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 9% of the cancers

Antibodies in assay

HPA051762
 

Tissue

Cancer staining

Normal tissue
staining

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Normal tissue
staining

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA051762

HPA051762

A-431 Skin Medium
Weak
A-549 Lung Medium
CACO-2 Colon Medium
HEK 293 Embryonal kidney Medium
HeLa Cervix Medium
Hep-G2 Liver Low
MCF-7 Pleural effusion Medium
PC-3 Bone marrow Medium
RT-4 Urinary bladder Medium
U-2 OS Bone Medium
U-251 MG Brain Medium

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA051762 pAb