Expression of NHS in cancer - Summary - The Human Protein Atlas

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NHS

TISSUE

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CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

GENERAL INFORMATION
Gene name	NHS
Gene description	Nance-Horan syndrome (congenital cataracts and dental anomalies)
Protein class	Disease related genes Plasma proteins Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	4
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HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):	Mixed
HPA (cell line):	Cell line enhanced (EFO-21, RPTEC TERT1)
HPA (normal tissue):	Mixed

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Cytoplasmic expression in several tissues, most abundant in reproductive organs.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data.
Reliability score	Uncertain based on 1 antibody. HPA031497
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PROGNOSTIC SUMMARY
Prognostic marker in endometrial cancer (favourable).
Endometrial cancer p<0.001 Show all

RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Mixed

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

HPA031497

GENE INFORMATION
Gene name	NHS
Synonyms
Description	Nance-Horan syndrome (congenital cataracts and dental anomalies) (HGNC Symbol)
Entrez gene summary	This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]
Chromosome	X
Cytoband
Chromosome location (bp)	17375420 - 17735994
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000188158 (version 83.38)
Entrez gene	4810
UniProt	Q6T4R5 (UniProt - Evidence at protein level)
neXtProt	NX_Q6T4R5
Antibodypedia	NHS antibodies

PROTEIN BROWSER

NHS-001	NHS-003	NHS-201	NHS-202

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
NHS-001 ENSP00000369400 ENST00000380060	Q6T4R5 [Direct mapping] Nance-Horan syndrome protein Show all	SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0002088 [lens development in camera-type eye] GO:0005737 [cytoplasm] GO:0005923 [bicellular tight junction] GO:0005925 [focal adhesion] GO:0016324 [apical plasma membrane] GO:0030027 [lamellipodium] GO:0030154 [cell differentiation] Show all	1630 aa 176.7 kDa	No	0
NHS-003 ENSP00000381170 ENST00000398097	Q6T4R5 [Direct mapping] Nance-Horan syndrome protein Show all	Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005737 [cytoplasm] GO:0005923 [bicellular tight junction] GO:0005925 [focal adhesion] GO:0016324 [apical plasma membrane] GO:0030027 [lamellipodium] Show all	1474 aa 160.8 kDa	No	0
NHS-201 ENSP00000480113 ENST00000615422	A0A087WWC4 [Direct mapping] Nance-Horan syndrome protein Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		1471 aa 160.5 kDa	No	0
NHS-202 ENSP00000478433 ENST00000617601	A0A087WU78 [Direct mapping] Nance-Horan syndrome protein Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		1447 aa 157.8 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.