KEGG   Homo sapiens (human): 7291
Entry
7291              CDS       T01001                                 
Symbol
TWIST1, ACS3, BPES2, BPES3, CRS, CRS1, CSO, SCS, SWCOS, TWIST, bHLHa38
Name
(RefSeq) twist family bHLH transcription factor 1
  KO
K09069  twist
Organism
hsa  Homo sapiens (human)
Pathway
hsa05205  Proteoglycans in cancer
Disease
H00458  Syndromic craniosynostoses
H01991  Saethre-Chotzen syndrome
H02160  Craniosynostoses
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05205 Proteoglycans in cancer
    7291 (TWIST1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    7291 (TWIST1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic helix-loop-helix (bHLH)
   Tal/Twist/Atonal/Hen, Mesodermal Twist-like factors
    7291 (TWIST1)
SSDB
Motif
Pfam: HLH HTH_51 CDK5RAP3
Other DBs
NCBI-GeneID: 7291
NCBI-ProteinID: NP_000465
OMIM: 601622
HGNC: 12428
Ensembl: ENSG00000122691
UniProt: Q15672
Structure
Position
7:complement(19113047..19117636)
AA seq 202 aa
MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRSAGGGAGPGGAAGGGV
GGGDEPGSPAQGKRGKKSAGCGGGGGAGGGGGSSSGGGSPQSYEELQTQRVMANVRERQR
TQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLYQVLQSDELDSKMASCSYVAH
ERLSYAFSVWRMEGAWSMSASH
NT seq 609 nt   +upstreamnt  +downstreamnt
atgatgcaggacgtgtccagctcgccagtctcgccggccgacgacagcctgagcaacagc
gaggaagagccagaccggcagcagccgccgagcggcaagcgcgggggacgcaagcggcgc
agcagcaggcgcagcgcgggcggcggcgcggggcccggcggagccgcgggtgggggcgtc
ggaggcggcgacgagccgggcagcccggcccagggcaagcgcggcaagaagtctgcgggc
tgtggcggcggcggcggcgcgggcggcggcggcggcagcagcagcggcggcgggagtccg
cagtcttacgaggagctgcagacgcagcgggtcatggccaacgtgcgggagcgccagcgc
acccagtcgctgaacgaggcgttcgccgcgctgcggaagatcatccccacgctgccctcg
gacaagctgagcaagattcagaccctcaagctggcggccaggtacatcgacttcctctac
caggtcctccagagcgacgagctggactccaagatggcaagctgcagctatgtggctcac
gagcggctcagctacgccttctcggtctggaggatggagggggcctggtccatgtccgcg
tcccactag

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (8)   
   KEGG DISEASE (3)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (16)   
   RefSeq(nuc) (2)   
   GenBank (7)   
   EMBL (7)   
3D Structure (1)   
   PDB (1)   
Protein domain (3)   
   Pfam (3)   
All databases (53)   

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