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GENE AND PROTEIN SUMMARY

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Gene name

CACNA1H

Description

calcium channel, voltage-dependent, T type, alpha 1H subunit

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transporters, Voltage-gated ion channels

Protein evidence

Medium

Entrez gene summary

This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Additional location(s)

 

Staining summary

No staining was observed in any of the three cell lines.

Reliability (Single)

Antibodies in assay

HPA039125
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Most normal tissues displayed weak to moderate cytoplasmic positivity with additional nuclear staining in several cases. Placental trophoblastic cells and Leydig cells were strongly stained. Pneumocytes, bile ducts, spleen and smooth muscle cells were negative.

Tissue specificity

Staining in 61 out of 81 cell types

Reliability (Single)

Antibodies in assay

HPA039125
 

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 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 43% of the cancers

Antibodies in assay

HPA039125
 

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

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

 

HPA039125

A-431 Skin Not detected

-

A-549 Lung Medium

-

CACO-2 Colon Low

-

HEK 293 Embryonal kidney Medium

-

HeLa Cervix Not detected

-

Hep-G2 Liver Medium

-

MCF-7 Pleural effusion High

-

PC-3 Bone marrow Low

-

RT-4 Urinary bladder Not detected

-

U-2 OS Bone Low

-

U-251 MG Brain Not detected

-

Negative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA039125 pAb