KEGG   Homo sapiens (human): 2812Help
Entry
2812              CDS       T01001                                 

Gene name
GP1BB, BDPLT1, BS, CD42C, GPIBB, GPIbbeta
Definition
(RefSeq) glycoprotein Ib platelet subunit beta
  KO
K06262  platelet glycoprotein Ib beta chain
Organism
hsa  Homo sapiens (human)
Pathway
hsa04512  ECM-receptor interaction
hsa04611  Platelet activation
hsa04640  Hematopoietic cell lineage
Disease
H00224  Bernard-Soulier syndrome
H01740  Macrothrombocytopenia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signaling molecules and interaction
   04512 ECM-receptor interaction
    2812 (GP1BB)
 Organismal Systems
  Immune system
   04640 Hematopoietic cell lineage
    2812 (GP1BB)
   04611 Platelet activation
    2812 (GP1BB)
CD molecules [BR:hsa04090]
 Proteins
  2812 (GP1BB)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: LRRNT LRRCT LRR_8
Motif
Other DBs
NCBI-GeneID: 2812
NCBI-ProteinID: NP_000398
OMIM: 138720
HGNC: 4440
Ensembl: ENSG00000203618
Vega: OTTHUMG00000150397
Pharos: P13224(Tbio)
UniProt: P13224
Structure
PDB: 

Position
22q11.21
AA seq 206 aa AA seqDB search
MGSGPRGALSLLLLLLAPPSRPAAGCPAPCSCAGTLVDCGRRGLTWASLPTAFPVDTTEL
VLTGNNLTALPPGLLDALPALRTAHLGANPWRCDCRLVPLRAWLAGRPERAPYRDLRCVA
PPALRGRLLPYLAEDELRAACAPGPLCWGALAAQLALLGLGLLHALLLVLLLCRLRRLRA
RARARAAARLSLTDPLVAERAGTDES
NT seq 621 nt NT seq  +upstreamnt  +downstreamnt
atgggctccgggccgcgcggggcgctgagcttactgctcctgctgctggccccgccgagc
cgcccggccgcaggttgcccggcgccctgtagctgcgcggggacgctcgtggactgcggg
cgccgcgggctgacttgggcctcgctgccgaccgccttccctgtcgacacaaccgagctg
gtgctgaccggcaacaacctgacggcgctgccgccggggctgctggacgcgctgcccgcg
ctgcgcaccgcacacctgggcgccaacccctggcgctgcgactgccgccttgtgccgctg
cgcgcctggctggccggccgccccgagcgtgcgccctaccgcgacctgcgttgcgtggcg
cccccagcgctgcgcggccgcctgctgccctatctggccgaggacgagctgcgcgccgct
tgcgctcccggcccgctctgctggggggcgctggcggcgcagcttgcgctgctgggcctt
gggctgctgcacgcgttgctgctggtgctgctgctgtgccgcctgcggaggctgcgggcc
cgggcccgcgctcgcgccgcagcccggctgtcgctgaccgacccgctggtggccgagcga
gccggaaccgacgagtcctga

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