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Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.


RefSeq Accession Definition Sequence Price Select
NM_000451 Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA. Full Lenth $1314.95
ORF Sequence $254.91


RefSeq Version NM_000451.3, 89257355
Length 3757 bp
Structure linear
Update Date 27-MAR-2011
Organism Homo sapiens (human)
Definition Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.
Product short stature homeobox protein isoform SHOXa
Comment

Summary: This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (SHOXa).


Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

RefSeq NP_000442.1
CDS 692..1570
Exon (1)1..259
Exon (2)1..259
Exon (3)260..968
Exon (4)969..1177
Exon (5)1178..1235
Exon (6)1236..1324
Exon (7)1325..3757
Translation MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDIT EGGGHCPVHLFKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRS RTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMH KGVILGTANHLDACRVAPYVNMGALRMPFQQVQAQLQLEGVAHAHPHLHPHLAAHAPYLM FPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLRLKARKHAEALGL
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Position Chain Variation Link
6+c, gdbSNP:28475683
12+g, tdbSNP:3813940
43..44+, tdbSNP:112273183
45..46+, ttgdbSNP:68102883
47..48+, gttdbSNP:72118607
55+, tdbSNP:72246778
56..57+, tdbSNP:59633441
56+, tdbSNP:55872554
180+a, cdbSNP:113313554
185+c, gdbSNP:111549748
320+a, gdbSNP:2239401
complement(830..831)-, gdbSNP:35183803
1096+c, tdbSNP:1063806
complement(1224..1225)-, tdbSNP:35974286
complement(1656..1657)-, cdbSNP:34597303
complement(1694..1695)-, cdbSNP:35368282
2324+a, tdbSNP:73607276
2338+, ttttttttttttdbSNP:71660280
complement(2524)-t, cdbSNP:35507574
3094+c, tdbSNP:111719077
3473..3474+, adbSNP:11482355
3527+c, gdbSNP:111339776
3713+c, tdbSNP:28410756
complement(3730)-t, adbSNP:36064730
3740+a, gdbSNP:28505100
Gene SymbolSHOX
Gene SynonymGCFX; PHOG; SHOXY; SS
ChromosomeY
Locus MapYp11.3
All Transcripts NM_000451 , NM_006883
Title Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) .
Author Benito-Sanz,S., Barroso,E., Heine-Suner,D., Hisado-Oliva,A., Romanelli,V., Rosell,J., Aragones,A., Caimari,M., Argente,J., Ross,J.L., Zinn,A.R., Gracia,R., Lapunzina,P., Campos-Barros,A. and Heath,K.E.
Journal J. Clin. Endocrinol. Metab. 96 (2), E404-E412 (2011)
Title The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis .
Author Kant,S.G., van der Kamp,H.J., Kriek,M., Bakker,E., Bakker,B., Hoffer,M.J., van Bunderen,P., Losekoot,M., Maas,S.M., Wit,J.M., Rappold,G. and Breuning,M.H.
Journal J. Clin. Endocrinol. Metab. 96 (2), E356-E359 (2011)
Title Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment .
Author Jorge,A.A., Funari,M.F., Nishi,M.Y. and Mendonca,B.B.
Journal Pediatr Endocrinol Rev 8 (2), 79-85 (2010)
Title SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome .
Author Gervasini,C., Grati,F.R., Lalatta,F., Tabano,S., Gentilin,B., Colapietro,P., De Toffol,S., Frontino,G., Motta,F., Maitz,S., Bernardini,L., Dallapiccola,B., Fedele,L., Larizza,L. and Miozzo,M.
Journal Genet. Med. 12 (10), 634-640 (2010)
Title Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks .
Author Reish,O., Huber,C., Altarescu,G., Chapman-Shimshoni,D., Levy-Lahad,E., Renbaum,P., Mashevich,M., Munnich,A. and Cormier-Daire,V.
Journal Am. J. Med. Genet. A 152A (9), 2230-2235 (2010)
Title Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome .
Author 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. and Rappold,G.A.
Journal Nat. Genet. 16 (1), 54-63 (1997)
Title Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s) .
Author Ogata,T., Yoshizawa,A., Muroya,K., Matsuo,N., Fukushima,Y., Rappold,G. and Yokoya,S.
Journal J. Med. Genet. 32 (10), 831-834 (1995)
Title X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies .
Author Kuznetzova,T., Baranov,A., Ivaschenko,T., Savitsky,G.A., Lanceva,O.E., Wang,M.R., Giollant,M., Malet,P., Kascheeva,T., Vakharlovsky,V. et al.
Journal J. Med. Genet. 31 (8), 649-651 (1994)
Title Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome .
Author Ballabio,A., Bardoni,B., Carrozzo,R., Andria,G., Bick,D., Campbell,L., Hamel,B., Ferguson-Smith,M.A., Gimelli,G., Fraccaro,M. et al.
Journal Proc. Natl. Acad. Sci. U.S.A. 86 (24), 10001-10005 (1989)
Title The role of Yp in sex determination: new evidence from X/Y translocations .
Author Zuffardi,O., Maraschio,P., Lo Curto,F., Muller,U., Giarola,A. and Perotti,L.
Journal Am. J. Med. Genet. 12 (2), 175-184 (1982)

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