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GENE AND PROTEIN SUMMARY

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Gene name

AHI1

Description

Abelson helper integration site 1

Protein class

Mapped to UniProt SWISS-PROT, SH3-domain containing proteins

Protein evidence

Medium

Entrez gene summary

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Show image »

Staining summary

The majority of normal tissues showed moderate cytoplasmic positivity. Renal tubules, duodenum and gall bladder exhibited strong staining. Glial cells, muscle tissues, soft tissues, pneumocytes and renal glomeruli were in general negative.

Tissue specificity

Staining in 46 out of 75 cell types

Reliability (Single)

Antibodies in assay

HPA046684
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 7
Liver and pancreas 4
Digestive (GI-tract) 12
Respiratory (lung) 4
Cardiovascular 1
Female tissues 11
Placenta 2
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 80% of the cancers

Antibodies in assay

HPA046684
 

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

HPA046684

 

A-431 Skin Medium

-

A-549 Lung Medium

-

CACO-2 Colon Medium

-

HEK 293 Embryonal kidney Medium

-

HeLa Cervix Medium

-

Hep-G2 Liver Medium

-

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

HPA046684 pAb