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O15266

- SHOX_HUMAN

UniProt

O15266 - SHOX_HUMAN

Protein

Short stature homeobox protein

Gene

SHOX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 147 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    Controls fundamental aspects of growth and development.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi117 – 17660HomeoboxPROSITE-ProRule annotationAdd
    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

    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 PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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 proteinPRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi242 – 2498SH3-bindingSequence Analysis
    Motifi274 – 28714OARAdd
    BLAST

    Compositional bias

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

    Sequence similaritiesi

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

    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. 1 PublicationVSP_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

    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: October 1, 2014
    This is version 147 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