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Protein

Short stature homeobox protein

Gene

SHOX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Controls fundamental aspects of growth and development.

Miscellaneous

The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi117 – 176HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

  • positive regulation of transcription by RNA polymerase II Source: NTNU_SB
  • skeletal system development Source: ProtInc
  • transcription by RNA polymerase II Source: ProtInc

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiO15266

Names & Taxonomyi

Protein namesi
Recommended name:
Short stature homeobox protein
Alternative name(s):
Pseudoautosomal homeobox-containing osteogenic protein
Short stature homeobox-containing protein
Gene namesi
Name:SHOX
Synonyms:PHOG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000185960.13
HGNCiHGNC:10853 SHOX
MIMi312865 gene
400020 gene
neXtProtiNX_O15266

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Leri-Weill dyschondrosteosis (LWD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna.
See also OMIM:127300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019414132L → V in LWD. 1 PublicationCorresponds to variant dbSNP:rs137852554Ensembl.1
Natural variantiVAR_019415153R → L in LWD. 1 PublicationCorresponds to variant dbSNP:rs137852555Ensembl.1
Natural variantiVAR_012346173R → C in LWD. 1 PublicationCorresponds to variant dbSNP:rs137852556Ensembl.1
Langer mesomelic dysplasia (LMD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to date.
See also OMIM:249700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019416168R → W in LMD. 1 PublicationCorresponds to variant dbSNP:rs137852557Ensembl.1
Short stature, idiopathic, X-linked (ISS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, genetically relevant population, in the absence of specific causative disorders.
See also OMIM:300582

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi6473
GeneReviewsiSHOX
MalaCardsiSHOX
MIMi127300 phenotype
249700 phenotype
300582 phenotype
OpenTargetsiENSG00000185960
Orphaneti2632 Langer mesomelic dysplasia
240 Leri-Weill dyschondrosteosis
314795 SHOX-related short stature
PharmGKBiPA134978644

Polymorphism and mutation databases

BioMutaiSHOX

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000492911 – 292Short stature homeobox proteinAdd BLAST292

Proteomic databases

PaxDbiO15266
PeptideAtlasiO15266
PRIDEiO15266

PTM databases

iPTMnetiO15266
PhosphoSitePlusiO15266

Expressioni

Tissue specificityi

SHOXA is expressed in skeletal muscle, placenta, pancreas, heart and bone marrow fibroblast and SHOXB is highly expressed in bone marrow fibroblast followed by kidney and skeletal muscle. SHOXB is not expressed in brain, kidney, liver and lung. Highly expressed in osteogenic cells.

Inductioni

By retinoic acid and phorbol-12-myristate 13-acetate (PMA).

Gene expression databases

BgeeiENSG00000185960
CleanExiHS_SHOX
ExpressionAtlasiO15266 baseline and differential

Organism-specific databases

HPAiHPA035141
HPA060931

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

IntActiO15266, 7 interactors
STRINGi9606.ENSP00000370990

Structurei

3D structure databases

ProteinModelPortaliO15266
SMRiO15266
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi242 – 249SH3-bindingSequence analysis8
Motifi274 – 287OARPROSITE-ProRule annotationAdd BLAST14

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi19 – 28Poly-Gly10
Compositional biasi242 – 245Poly-Pro4
Compositional biasi264 – 267Poly-Ala4

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00900000140776
HOGENOMiHOG000231518
HOVERGENiHBG007233
InParanoidiO15266
KOiK09331
OMAiFKDHVES
OrthoDBiEOG091G0ICT
PhylomeDBiO15266
TreeFamiTF350757

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR000047 HTH_motif
IPR003654 OAR_dom
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF03826 OAR, 1 hit
PRINTSiPR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS50803 OAR, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform SHOXA (identifier: O15266-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEELTAFVSK SFDQKSKDGN GGGGGGGGKK DSITYREVLE SGLARSRELG
60 70 80 90 100
TSDSSLQDIT EGGGHCPVHL FKDHVDNDKE KLKEFGTARV AEGIYECKEK
110 120 130 140 150
REDVKSEDED GQTKLKQRRS RTNFTLEQLN ELERLFDETH YPDAFMREEL
160 170 180 190 200
SQRLGLSEAR VQVWFQNRRA KCRKQENQMH KGVILGTANH LDACRVAPYV
210 220 230 240 250
NMGALRMPFQ QVQAQLQLEG VAHAHPHLHP HLAAHAPYLM FPPPPFGLPI
260 270 280 290
ASLAESASAA AVVAAAAKSN SKNSSIADLR LKARKHAEAL GL
Length:292
Mass (Da):32,236
Last modified:January 1, 1998 - v1
Checksum:i0F2A61A3051CB360
GO
Isoform SHOXB (identifier: O15266-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     212-292: VQAQLQLEGV...ARKHAEALGL → MEFCSCRPGWSIMA

Show »
Length:225
Mass (Da):25,501
Checksum:i653FEB8D90C6107C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019414132L → V in LWD. 1 PublicationCorresponds to variant dbSNP:rs137852554Ensembl.1
Natural variantiVAR_019415153R → L in LWD. 1 PublicationCorresponds to variant dbSNP:rs137852555Ensembl.1
Natural variantiVAR_019416168R → W in LMD. 1 PublicationCorresponds to variant dbSNP:rs137852557Ensembl.1
Natural variantiVAR_012346173R → C in LWD. 1 PublicationCorresponds to variant dbSNP:rs137852556Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002287212 – 292VQAQL…EALGL → MEFCSCRPGWSIMA in isoform SHOXB. 1 PublicationAdd BLAST81

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y11536 mRNA Translation: CAA72299.1
Y11535 mRNA Translation: CAA72298.1
U82668 Genomic DNA No translation available.
U89331 mRNA Translation: AAC18820.1
BX004827 Genomic DNA No translation available.
CCDSiCCDS14106.1 [O15266-2]
CCDS14107.1 [O15266-1]
RefSeqiNP_000442.1, NM_000451.3 [O15266-1]
NP_006874.1, NM_006883.2 [O15266-2]
UniGeneiHs.105932

Genome annotation databases

EnsembliENST00000334060; ENSP00000335505; ENSG00000185960 [O15266-2]
ENST00000381575; ENSP00000370987; ENSG00000185960 [O15266-2]
ENST00000381578; ENSP00000370990; ENSG00000185960 [O15266-1]
ENST00000554971; ENSP00000452016; ENSG00000185960 [O15266-1]
GeneIDi6473
KEGGihsa:6473
UCSCiuc004cph.1 human [O15266-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiSHOX_HUMAN
AccessioniPrimary (citable) accession number: O15266
Secondary accession number(s): O00412, O00413, O15267
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 1, 1998
Last modified: March 28, 2018
This is version 177 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health