Cell atlas - SHOX - The Human Protein Atlas

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SHOX

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Nucleoplasm
	Vesicles

Human cell
	Nucleoplasm
	Vesicles

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GENERAL INFORMATION
Gene name	SHOX
Gene description	Short stature homeobox
Protein class	Disease related genes Predicted intracellular proteins Transcription factors
Predicted localization	Intracellular
Number of transcripts	4
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the nucleoplasm. In addition localized to vesicles.
RNA cell category	Cell line enhanced (BJ, BJ hTERT+)
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleoplasm (validated)
Additional location	In addition localized to the Vesicles (approved)

DATA RELIABILITY
Reliability score	Validated based on 2 antibodies. HPA035141 , HPA060931
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (BJ, BJ hTERT+) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the nucleoplasm. In addition localized to vesicles.

Main location

Nucleoplasm (validated)

Additional location

Vesicles (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA035141	BJ	Nucleoplasm
	HPA035141	BJ	Vesicles
	HPA060931	BJ	Nucleoplasm
	HPA060931	BJ	Vesicles

GENE INFORMATION
Gene name	SHOX (HGNC Symbol)
Synonyms	GCFX, PHOG, SHOXY, SS
Description	Short stature homeobox (HGNC Symbol)
Entrez gene summary	This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
Chromosome	X
Cytoband	p22.33
Chromosome location (bp)	624344 - 659411
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000185960 (version 83.38)
Entrez gene	6473
UniProt	O15266 (UniProt - Evidence at protein level)
neXtProt	NX_O15266
Antibodypedia	SHOX antibodies

PROTEIN BROWSER

SHOX-001	SHOX-003	SHOX-201	SHOX-202

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SHOX-001 ENSP00000370987 ENST00000381575	O15266 [Direct mapping] Short stature homeobox protein Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Show all	GO:0001501 [skeletal system development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0043565 [sequence-specific DNA binding] Show all	225 aa 25.5 kDa	No	0
SHOX-003 ENSP00000452016 ENST00000554971	O15266 [Direct mapping] Short stature homeobox protein A0A024R385 [Target identity:100%; Query identity:100%] Short stature homeobox, isoform CRA_b Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Show all	GO:0001501 [skeletal system development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0043565 [sequence-specific DNA binding] Show all	292 aa 32.2 kDa	No	0
SHOX-201 ENSP00000335505 ENST00000334060	O15266 [Direct mapping] Short stature homeobox protein Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Show all	GO:0001501 [skeletal system development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0043565 [sequence-specific DNA binding] Show all	225 aa 25.5 kDa	No	0
SHOX-202 ENSP00000370990 ENST00000381578	O15266 [Direct mapping] Short stature homeobox protein A0A024R385 [Target identity:100%; Query identity:100%] Short stature homeobox, isoform CRA_b Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Show all	GO:0001501 [skeletal system development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0043565 [sequence-specific DNA binding] Show all	292 aa 32.2 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.