KEGG   Homo sapiens (human): 7045
Entry
7045              CDS       T01001                                 
Symbol
TGFBI, BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1
Name
(RefSeq) transforming growth factor beta induced
  KO
K19519  transforming growth factor-beta-induced protein
Organism
hsa  Homo sapiens (human)
Disease
H00951  Reis-Bucklers corneal dystrophy
H00952  Thiel-Behnke dystrophies
H00955  Granular corneal dystrophies
H00956  Lattice corneal dystrophies
H01221  Epithelial basement membrane corneal dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    7045 (TGFBI)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Other domain-containing proteins
  Fasciclin domain-containing proteins
   7045 (TGFBI)
SSDB
Motif
Pfam: Fasciclin
Other DBs
NCBI-GeneID: 7045
NCBI-ProteinID: NP_000349
OMIM: 601692
HGNC: 11771
Ensembl: ENSG00000120708
UniProt: Q15582 A0A0S2Z4Q2
Structure
Position
5:136028988..136063818
AA seq 683 aa
MALFVRLLALALALALGPAATLAGPAKSPYQLVLQHSRLRGRQHGPNVCAVQKVIGTNRK
YFTNCKQWYQRKICGKSTVISYECCPGYEKVPGEKGCPAALPLSNLYETLGVVGSTTTQL
YTDRTEKLRPEMEGPGSFTIFAPSNEAWASLPAEVLDSLVSNVNIELLNALRYHMVGRRV
LTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLLKADHHATNGVVHLIDKVISTIT
NNIQQIIEIEDTFETLRAAVAASGLNTMLEGNGQYTLLAPTNEAFEKIPSETLNRILGDP
EALRDLLNNHILKSAMCAEAIVAGLSVETLEGTTLEVGCSGDMLTINGKAIISNKDILAT
NGVIHYIDELLIPDSAKTLFELAAESDVSTAIDLFRQAGLGNHLSGSERLTLLAPLNSVF
KDGTPPIDAHTRNLLRNHIIKDQLASKYLYHGQTLETLGGKKLRVFVYRNSLCIENSCIA
AHDKRGRYGTLFTMDRVLTPPMGTVMDVLKGDNRFSMLVAAIQSAGLTETLNREGVYTVF
APTNEAFRALPPRERSRLLGDAKELANILKYHIGDEILVSGGIGALVRLKSLQGDKLEVS
LKNNVVSVNKEPVAEPDIMATNGVVHVITNVLQPPANRPQERGDELADSALEIFKQASAF
SRASQRSVRLAPVYQKLLERMKH
NT seq 2052 nt   +upstreamnt  +downstreamnt
atggcgctcttcgtgcggctgctggctctcgccctggctctggccctgggccccgccgcg
accctggcgggtcccgccaagtcgccctaccagctggtgctgcagcacagcaggctccgg
ggccgccagcacggccccaacgtgtgtgctgtgcagaaggttattggcactaataggaag
tacttcaccaactgcaagcagtggtaccaaaggaaaatctgtggcaaatcaacagtcatc
agctacgagtgctgtcctggatatgaaaaggtccctggggagaagggctgtccagcagcc
ctaccactctcaaacctttacgagaccctgggagtcgttggatccaccaccactcagctg
tacacggaccgcacggagaagctgaggcctgagatggaggggcccggcagcttcaccatc
ttcgcccctagcaacgaggcctgggcctccttgccagctgaagtgctggactccctggtc
agcaatgtcaacattgagctgctcaatgccctccgctaccatatggtgggcaggcgagtc
ctgactgatgagctgaaacacggcatgaccctcacctctatgtaccagaattccaacatc
cagatccaccactatcctaatgggattgtaactgtgaactgtgcccggctgctgaaagcc
gaccaccatgcaaccaacggggtggtgcacctcatcgataaggtcatctccaccatcacc
aacaacatccagcagatcattgagatcgaggacacctttgagacccttcgggctgctgtg
gctgcatcagggctcaacacgatgcttgaaggtaacggccagtacacgcttttggccccg
accaatgaggccttcgagaagatccctagtgagactttgaaccgtatcctgggcgaccca
gaagccctgagagacctgctgaacaaccacatcttgaagtcagctatgtgtgctgaagcc
atcgttgcggggctgtctgtagagaccctggagggcacgacactggaggtgggctgcagc
ggggacatgctcactatcaacgggaaggcgatcatctccaataaagacatcctagccacc
aacggggtgatccactacattgatgagctactcatcccagactcagccaagacactattt
gaattggctgcagagtctgatgtgtccacagccattgaccttttcagacaagccggcctc
ggcaatcatctctctggaagtgagcggttgaccctcctggctcccctgaattctgtattc
aaagatggaacccctccaattgatgcccatacaaggaatttgcttcggaaccacataatt
aaagaccagctggcctctaagtatctgtaccatggacagaccctggaaactctgggcggc
aaaaaactgagagtttttgtttatcgtaatagcctctgcattgagaacagctgcatcgcg
gcccacgacaagagggggaggtacgggaccctgttcacgatggaccgggtgctgaccccc
ccaatggggactgtcatggatgtcctgaagggagacaatcgctttagcatgctggtagct
gccatccagtctgcaggactgacggagaccctcaaccgggaaggagtctacacagtcttt
gctcccacaaatgaagccttccgagccctgccaccaagagaacggagcagactcttggga
gatgccaaggaacttgccaacatcctgaaataccacattggtgatgaaatcctggttagc
ggaggcatcggggccctggtgcggctaaagtctctccaaggtgacaagctggaagtcagc
ttgaaaaacaatgtggtgagtgtcaacaaggagcctgttgccgagcctgacatcatggcc
acaaatggcgtggtccatgtcatcaccaatgttctgcagcctccagccaacagacctcag
gaaagaggggatgaacttgcagactctgcgcttgagatcttcaaacaagcatcagcgttt
tccagggcttcccagaggtctgtgcgactagcccctgtctatcaaaagttattagagagg
atgaagcattag

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Ontology (2)   
   KEGG BRITE (2)   
Disease (13)   
   KEGG DISEASE (5)   
   OMIM (8)   
Genome (1)   
   KEGG GENOME (1)   
Gene (46)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (32)   
   OC (1)   
   PHAROS (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (31)   
   RefSeq(nuc) (1)   
   GenBank (15)   
   EMBL (15)   
3D Structure (10)   
   PDB (10)   
Protein domain (1)   
   Pfam (1)   
All databases (108)   

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