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Protein

Short stature homeobox protein

Gene

SHOX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Controls fundamental aspects of growth and development.

Regions

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

GO - Molecular functioni

  • sequence-specific DNA binding Source: InterPro
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

GO - Biological processi

  • skeletal system development Source: ProtInc
  • transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:G66-31486-MONOMER.
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

HGNCiHGNC:10853. SHOX.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

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 rs137852554dbSNPEnsembl.1
Natural variantiVAR_019415153R → L in LWD. 1 PublicationCorresponds to variant rs137852555dbSNPEnsembl.1
Natural variantiVAR_012346173R → C in LWD. 1 PublicationCorresponds to variant rs137852556dbSNPEnsembl.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 rs137852557dbSNPEnsembl.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.
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.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
SOX5P357112EBI-3505698,EBI-3505701
SOX6P357123EBI-3505698,EBI-3505706

Protein-protein interaction databases

IntActiO15266. 4 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

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG007233.
InParanoidiO15266.
KOiK09331.
OMAiFKDHVES.
OrthoDBiEOG091G0ICT.
PhylomeDBiO15266.
TreeFamiTF350757.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
PRINTSiPR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]

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 rs137852554dbSNPEnsembl.1
Natural variantiVAR_019415153R → L in LWD. 1 PublicationCorresponds to variant rs137852555dbSNPEnsembl.1
Natural variantiVAR_019416168R → W in LMD. 1 PublicationCorresponds to variant rs137852557dbSNPEnsembl.1
Natural variantiVAR_012346173R → C in LWD. 1 PublicationCorresponds to variant rs137852556dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliO15266.
SMRiO15266.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiO15266. 4 interactors.
STRINGi9606.ENSP00000370990.

PTM databases

iPTMnetiO15266.
PhosphoSitePlusiO15266.

Polymorphism and mutation databases

BioMutaiSHOX.

Proteomic databases

PaxDbiO15266.
PeptideAtlasiO15266.
PRIDEiO15266.

Protocols and materials databases

DNASUi6473.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi6473.
DisGeNETi6473.
GeneCardsiSHOX.
GeneReviewsiSHOX.
HGNCiHGNC:10853. SHOX.
MalaCardsiSHOX.
MIMi127300. phenotype.
249700. phenotype.
300582. phenotype.
312865. gene.
400020. gene.
neXtProtiNX_O15266.
OpenTargetsiENSG00000185960.
Orphaneti2632. Langer mesomelic dysplasia.
240. Leri-Weill dyschondrosteosis.
314795. SHOX-related short stature.
PharmGKBiPA134978644.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG007233.
InParanoidiO15266.
KOiK09331.
OMAiFKDHVES.
OrthoDBiEOG091G0ICT.
PhylomeDBiO15266.
TreeFamiTF350757.

Enzyme and pathway databases

BioCyciZFISH:G66-31486-MONOMER.
SIGNORiO15266.

Miscellaneous databases

ChiTaRSiSHOX. human.
GeneWikiiShort_stature_homeobox_gene.
GenomeRNAii6473.
PROiO15266.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000185960.
CleanExiHS_SHOX.
ExpressionAtlasiO15266. baseline and differential.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
PRINTSiPR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSHOX_HUMAN
AccessioniPrimary (citable) accession number: O15266
Secondary accession number(s): O00412, O00413, O15267
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 1, 1998
Last modified: November 30, 2016
This is version 167 of the entry and version 1 of the sequence. [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

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.