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GENE AND PROTEIN SUMMARY

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Gene name

PAFAH1B1

Description

platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)

Protein class

Mapped to UniProt SWISS-PROT, Plasma proteins

Protein evidence

High

Entrez gene summary

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Centrosome

Additional location(s)

Nucleus but not nucleoli, Cytoplasm 

Staining summary

Staining of centrosome in U-251 MG and A-431, and nucleus and cytoplasm in U-2 OS.

Reliability (Single)

Antibodies in assay

HPA020036
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression in most tissues. High expression in cells of seminiferous duct.

Tissue specificity

Expressed in 81 out of 82 cell types

Reliability (APE)

Medium

Antibodies in assay

CAB004489, HPA020036
 

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 13
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 85% of the cancers

Antibodies in assay

CAB004489, HPA020036
 

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

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB004489

HPA020036

HPA020036

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

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB004489 mAb
HPA020036 pAb