Homo sapiens (human): 6473
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Entry
6473 CDS
T01001
Symbol
SHOX, GCFX, PHOG, SHOX1, SHOXY, SS
Name
(RefSeq) short stature homeobox protein isoform SHOXa
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
Ortholog
Paralog
GFIT
Motif
Pfam:
Homeodomain
OAR
Homeobox_KN
MRP-L20
CCDC53
AcrF31
Motif
Other DBs
NCBI-GeneID:
6473
NCBI-ProteinID:
NP_000442
OMIM:
400020
HGNC:
10853
Ensembl:
ENSP00000508521.1
UniProt:
O15266
LinkDB
All DBs
Position
X:624344..659411
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AA seq
292 aa
AA seq
DB search
MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDIT
EGGGHCPVHLFKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRS
RTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMH
KGVILGTANHLDACRVAPYVNMGALRMPFQQVQAQLQLEGVAHAHPHLHPHLAAHAPYLM
FPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLRLKARKHAEALGL
NT seq
879 nt
NT seq
+upstream
nt +downstream
nt
atggaagagctcacggcttttgtatccaagtcttttgaccagaaaagcaaggacggtaac
ggcggaggcggaggcggcggaggtaagaaggattccattacgtaccgggaagttttggag
agcggactggcgcgctcccgggagctggggacgtcggattccagcctccaggacatcacg
gagggcggcggccactgcccggtgcatttgttcaaggaccacgtagacaatgacaaggag
aaactgaaagaattcggcaccgcgagagtggcagaagggatttatgaatgcaaagagaag
cgcgaggacgtgaagtcggaggacgaggacgggcagaccaagctgaaacagaggcgcagc
cgcaccaacttcacgctggagcagctgaacgagctcgagcgactcttcgacgagacccat
taccccgacgccttcatgcgcgaggagctcagccagcgcctggggctctccgaggcgcgc
gtgcaggtttggttccagaaccggagagccaagtgccgcaaacaagagaatcagatgcat
aaaggcgtcatcttgggcacagccaaccacctagacgcctgccgagtggcaccctacgtc
aacatgggagccttacggatgcctttccaacaggtccaggctcagctgcagctggaaggc
gtggcccacgcgcacccgcacctgcacccgcacctggcggcgcacgcgccctacctgatg
ttccccccgccgcccttcgggctgcccatcgcgtcgctggccgagtccgcctcggccgcc
gccgtggtcgccgccgccgccaaaagcaacagcaagaattccagcatcgccgacctgcgg
ctcaaggcgcggaagcacgcggaggccctggggctctga
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