KEGG   Homo sapiens (human): 6473
Entry
6473              CDS       T01001                                 
Symbol
SHOX, GCFX, PHOG, SHOX1, SHOXY, SS
Name
(RefSeq) SHOX homeobox
  KO
K09331  short stature homeobox protein
Organism
hsa  Homo sapiens (human)
Disease
H00492  SHOX-related short stature
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    6473 (SHOX)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain Paired-related
    6473 (SHOX)
SSDB
Motif
Pfam: Homeodomain OAR Homeobox_KN MRP-L20 CCDC53
Other DBs
NCBI-GeneID: 6473
NCBI-ProteinID: NP_000442
OMIM: 312865 400020
HGNC: 10853
Ensembl: ENSG00000185960 ENSG00000292354
UniProt: O15266
Position
X:624344..659411, Y:624344..659411
AA seq 292 aa
MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDIT
EGGGHCPVHLFKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRS
RTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMH
KGVILGTANHLDACRVAPYVNMGALRMPFQQVQAQLQLEGVAHAHPHLHPHLAAHAPYLM
FPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLRLKARKHAEALGL
NT seq 879 nt   +upstreamnt  +downstreamnt
atggaagagctcacggcttttgtatccaagtcttttgaccagaaaagcaaggacggtaac
ggcggaggcggaggcggcggaggtaagaaggattccattacgtaccgggaagttttggag
agcggactggcgcgctcccgggagctggggacgtcggattccagcctccaggacatcacg
gagggcggcggccactgcccggtgcatttgttcaaggaccacgtagacaatgacaaggag
aaactgaaagaattcggcaccgcgagagtggcagaagggatttatgaatgcaaagagaag
cgcgaggacgtgaagtcggaggacgaggacgggcagaccaagctgaaacagaggcgcagc
cgcaccaacttcacgctggagcagctgaacgagctcgagcgactcttcgacgagacccat
taccccgacgccttcatgcgcgaggagctcagccagcgcctggggctctccgaggcgcgc
gtgcaggtttggttccagaaccggagagccaagtgccgcaaacaagagaatcagatgcat
aaaggcgtcatcttgggcacagccaaccacctagacgcctgccgagtggcaccctacgtc
aacatgggagccttacggatgcctttccaacaggtccaggctcagctgcagctggaaggc
gtggcccacgcgcacccgcacctgcacccgcacctggcggcgcacgcgccctacctgatg
ttccccccgccgcccttcgggctgcccatcgcgtcgctggccgagtccgcctcggccgcc
gccgtggtcgccgccgccgccaaaagcaacagcaagaattccagcatcgccgacctgcgg
ctcaaggcgcggaagcacgcggaggccctggggctctga

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