InnateDB Protein
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IDBP-39241.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SHOX
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Protein Name
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short stature homeobox
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Synonyms
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GCFX; PHOG; SHOXY; SS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000335505
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InnateDB Gene
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IDBG-39235 (SHOX)
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Protein Structure
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Function |
Controls fundamental aspects of growth and development.
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Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00108, ECO:0000255PROSITE-ProRule:PRU00138}.
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Disease Associations |
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. {ECO:0000269PubMed:11030412, ECO:0000269PubMed:11403039}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:11889214}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:9140395}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0000976
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transcription regulatory region sequence-specific DNA binding
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GO:0003677
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DNA binding
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GO:0003700
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sequence-specific DNA binding transcription factor activity
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GO:0005515
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protein binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000047
Helix-turn-helix motif
IPR001356
Homeobox domain
IPR009057
Homeodomain-like
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PFAM |
PF00046
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PRINTS |
PR00031
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PIRSF |
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SMART |
SM00389
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TIGRFAMs |
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Modification |
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SwissProt |
O15266
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PhosphoSite |
PhosphoSite-O15266
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6473
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UniGene |
Hs.673889
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RefSeq |
NP_006874
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HUGO |
HGNC:10853
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OMIM |
400020
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CCDS |
CCDS14106
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HPRD |
02430
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IMGT |
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EMBL |
BX004827
U82668
U89331
Y11535
Y11536
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GenPept |
AAC18820
CAA72298
CAA72299
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