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GENE AND PROTEIN SUMMARY

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Gene name

WHSC1

Description

Wolf-Hirschhorn syndrome candidate 1

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Mutated genes in cancer, Potential transmembrane proteins

Protein evidence

High

Entrez gene summary

This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

18 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)

Nucleoli, Nuclear membrane 

Staining summary

Localized to the nucleus, including nucleoli and the nuclear membrane.

Reliability (APE)

Medium

Antibodies in assay

HPA015315, HPA015801
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic and nuclear expression in most tissues.

Tissue specificity

Expressed in 56 out of 82 cell types

Reliability (APE)

Medium

Antibodies in assay

HPA015315, HPA015801
 

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 79% of the cancers

Antibodies in assay

HPA015315, HPA015801
 

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

HPA015315

HPA015801

HPA015315

HPA015801

A-431 Skin High
ModerateWeak
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
WeakWeak
U-251 MG Brain High
ModerateModerate

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA015315 pAb
HPA015801 pAb