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O15266

- SHOX_HUMAN

UniProt

O15266 - SHOX_HUMAN

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Protein
Short stature homeobox protein
Gene
SHOX, PHOG
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Controls fundamental aspects of growth and development.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi117 – 17660Homeobox
Add
BLAST

GO - Molecular functioni

  1. protein binding Source: IntAct
  2. sequence-specific DNA binding transcription factor activity Source: ProtInc
  3. transcription regulatory region sequence-specific DNA binding Source: InterPro

GO - Biological processi

  1. skeletal system development Source: ProtInc
  2. 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

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
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:10853. SHOX.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Leri-Weill dyschondrosteosis (LWD) [MIM:127300]: Dominantly 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti132 – 1321L → V in LWD. 1 Publication
VAR_019414
Natural varianti153 – 1531R → L in LWD. 1 Publication
VAR_019415
Natural varianti173 – 1731R → C in LWD. 1 Publication
VAR_012346
Langer mesomelic dysplasia (LMD) [MIM:249700]: Autosomal 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti168 – 1681R → W in LMD. 1 Publication
VAR_019416
Short stature, idiopathic, X-linked (ISS) [MIM:300582]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

MIMi127300. phenotype.
249700. phenotype.
300582. phenotype.
Orphaneti2632. Langer mesomelic dysplasia.
240. Lori-Weill dyschondrosteosis.
314795. Shox-related short stature.
PharmGKBiPA134978644.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 292292Short stature homeobox protein
PRO_0000049291Add
BLAST

Proteomic databases

PaxDbiO15266.
PRIDEiO15266.

PTM databases

PhosphoSiteiO15266.

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

ArrayExpressiO15266.
BgeeiO15266.
CleanExiHS_SHOX.
GenevestigatoriO15266.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

IntActiO15266. 4 interactions.
STRINGi9606.ENSP00000370990.

Structurei

3D structure databases

ProteinModelPortaliO15266.
SMRiO15266. Positions 117-175.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi242 – 2498SH3-binding Reviewed prediction
Motifi274 – 28714OAR
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi19 – 2810Poly-Gly
Compositional biasi242 – 2454Poly-Pro
Compositional biasi264 – 2674Poly-Ala

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG113578.
HOGENOMiHOG000231518.
HOVERGENiHBG007233.
InParanoidiO15266.
KOiK09331.
OMAiSNHCPVH.
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. Align

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

MEELTAFVSK SFDQKSKDGN GGGGGGGGKK DSITYREVLE SGLARSRELG    50
TSDSSLQDIT EGGGHCPVHL FKDHVDNDKE KLKEFGTARV AEGIYECKEK 100
REDVKSEDED GQTKLKQRRS RTNFTLEQLN ELERLFDETH YPDAFMREEL 150
SQRLGLSEAR VQVWFQNRRA KCRKQENQMH KGVILGTANH LDACRVAPYV 200
NMGALRMPFQ QVQAQLQLEG VAHAHPHLHP HLAAHAPYLM FPPPPFGLPI 250
ASLAESASAA AVVAAAAKSN SKNSSIADLR LKARKHAEAL GL 292
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti132 – 1321L → V in LWD. 1 Publication
VAR_019414
Natural varianti153 – 1531R → L in LWD. 1 Publication
VAR_019415
Natural varianti168 – 1681R → W in LMD. 1 Publication
VAR_019416
Natural varianti173 – 1731R → C in LWD. 1 Publication
VAR_012346

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei212 – 29281VQAQL…EALGL → MEFCSCRPGWSIMA in isoform SHOXB.
VSP_002287Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
uc004cpi.3. human. [O15266-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS14106.1. [O15266-2 ]
CCDS14107.1. [O15266-1 ]
RefSeqi NP_000442.1. NM_000451.3. [O15266-1 ]
NP_006874.1. NM_006883.2. [O15266-2 ]
UniGenei Hs.105932.

3D structure databases

ProteinModelPortali O15266.
SMRi O15266. Positions 117-175.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi O15266. 4 interactions.
STRINGi 9606.ENSP00000370990.

PTM databases

PhosphoSitei O15266.

Proteomic databases

PaxDbi O15266.
PRIDEi O15266.

Protocols and materials databases

DNASUi 6473.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000334060 ; ENSP00000335505 ; ENSG00000185960 . [O15266-2 ]
ENST00000381575 ; ENSP00000370987 ; ENSG00000185960 . [O15266-2 ]
ENST00000381578 ; ENSP00000370990 ; ENSG00000185960 . [O15266-1 ]
ENST00000554971 ; ENSP00000452016 ; ENSG00000185960 . [O15266-1 ]
GeneIDi 6473.
KEGGi hsa:6473.
UCSCi uc004cph.1. human. [O15266-1 ]
uc004cpi.3. human. [O15266-2 ]

Organism-specific databases

CTDi 6473.
GeneCardsi GC0XP000585.
GeneReviewsi SHOX.
HGNCi HGNC:10853. SHOX.
MIMi 127300. phenotype.
249700. phenotype.
300582. phenotype.
312865. gene.
400020. gene.
neXtProti NX_O15266.
Orphaneti 2632. Langer mesomelic dysplasia.
240. Lori-Weill dyschondrosteosis.
314795. Shox-related short stature.
PharmGKBi PA134978644.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG113578.
HOGENOMi HOG000231518.
HOVERGENi HBG007233.
InParanoidi O15266.
KOi K09331.
OMAi SNHCPVH.
PhylomeDBi O15266.
TreeFami TF350757.

Miscellaneous databases

GeneWikii Short_stature_homeobox_gene.
GenomeRNAii 6473.
NextBioi 25145.
PROi O15266.
SOURCEi Search...

Gene expression databases

ArrayExpressi O15266.
Bgeei O15266.
CleanExi HS_SHOX.
Genevestigatori O15266.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
IPR003654. OAR_dom.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view ]
PRINTSi PR00031. HTHREPRESSR.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome."
    Rao E., Weiss B., Fukami M., Rump A., Niesler B., Mertz A., Muroya K., Binder G., Kirsch S., Winkelmann M., Nordsiek G., Heinrich U., Breuning M.H., Ranke M.B., Rosenthal A., Ogata T., Rappold G.A.
    Nat. Genet. 16:54-63(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS SHOXA AND SHOXB), INVOLVEMENT IN ISS.
    Tissue: Skeletal muscle.
  2. "PHOG, a candidate gene for involvement in the short stature of Turner syndrome."
    Ellison J.W., Wardak Z., Young M.F., Gehron Robey P., Laig-Webster M., Chiong W.
    Hum. Mol. Genet. 6:1341-1347(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHOXA).
  3. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia."
    Grigelioniene G., Ekloef O., Ivarsson S.A., Westphal O., Neumeyer L., Kedra D., Dumanski J., Hagenaes L.
    Hum. Genet. 107:145-149(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LWD VAL-132 AND LEU-153.
  5. "Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)."
    Cormier-Daire V., Huber C., Munnich A.
    Am. J. Med. Genet. 106:272-274(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISEASE.
  6. Cited for: VARIANT LWD CYS-173.
  7. "SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features."
    Ogata T., Muroya K., Sasaki G., Nishimura G., Kitoh H., Hattori T.
    J. Clin. Endocrinol. Metab. 87:1390-1394(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LMD TRP-168.

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: July 9, 2014
This is version 146 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

External Data

Dasty 3

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