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GENE AND PROTEIN SUMMARY

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Gene name

ACTL7A

Description

actin-like 7A

Protein class

Mapped to UniProt SWISS-PROT

Protein evidence

High

Entrez gene summary

The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus

Additional location(s)

 

Staining summary

Localized to the nucleus.

Reliability (APE)

Medium

Antibodies in assay

HPA021624, HPA024544
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Expression mainly in spermatozoa.

Tissue specificity

Expressed in 14 out of 81 cell types

Reliability (APE)

Low

Antibodies in assay

HPA021624, HPA024544
 

Organ

No of cell types

Protein expression

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 annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 28% of the cancers

Antibodies in assay

HPA021624, HPA024544
 

Tissue

Cancer staining

Protein
expression of
normal tissue

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

Tissue

Cancer staining

Protein
expression of
normal tissue

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

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA021624

HPA024544

HPA021624

HPA024544

A-431 Skin Not detected
WeakWeak
A-549 Lung Not detected
CACO-2 Colon Not detected
HEK 293 Embryonal kidney Not detected
HeLa Cervix Not detected
Hep-G2 Liver Not detected
MCF-7 Pleural effusion Not detected
PC-3 Bone marrow Not detected
RT-4 Urinary bladder Not detected
U-2 OS Bone Low
WeakStrong
U-251 MG Brain Not detected
ModerateWeak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA021624 pAb
HPA024544 pAb