KEGG   Homo sapiens (human): 2811Help
Entry
2811              CDS       T01001                                 

Gene name
GP1BA, BDPLT1, BDPLT3, BSS, CD42B, CD42b-alpha, DBPLT3, GP1B, GPIbA, GPIbalpha, VWDP
Definition
(RefSeq) glycoprotein Ib platelet subunit alpha
  KO
K06261  platelet glycoprotein Ib alpha chain
Organism
hsa  Homo sapiens (human)
Pathway
hsa04512  ECM-receptor interaction
hsa04611  Platelet activation
hsa04640  Hematopoietic cell lineage
Disease
H00219  Hemophilia
H00224  Bernard-Soulier syndrome
H01740  Macrothrombocytopenia
H02093  Platelet-type von Willebrand disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    2811 (GP1BA)
 09150 Organismal Systems
  09151 Immune system
   04640 Hematopoietic cell lineage
    2811 (GP1BA)
   04611 Platelet activation
    2811 (GP1BA)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04090 CD molecules [BR:hsa04090]
    2811 (GP1BA)
CD molecules [BR:hsa04090]
 Proteins
  2811 (GP1BA)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: LRR_8 LRR_4 LRRNT LRR_9
Motif
Other DBs
NCBI-GeneID: 2811
NCBI-ProteinID: NP_000164
OMIM: 606672
HGNC: 4439
Ensembl: ENSG00000185245
Vega: OTTHUMG00000177946
Pharos: P07359(Tbio)
UniProt: P07359 L7UYB8
Structure
PDB: 

Position
17p13.2
AA seq 652 aa AA seqDB search
MPLLLLLLLLPSPLHPHPICEVSKVASHLEVNCDKRNLTALPPDLPKDTTILHLSENLLY
TFSLATLMPYTRLTQLNLDRCELTKLQVDGTLPVLGTLDLSHNQLQSLPLLGQTLPALTV
LDVSFNRLTSLPLGALRGLGELQELYLKGNELKTLPPGLLTPTPKLEKLSLANNNLTELP
AGLLNGLENLDTLLLQENSLYTIPKGFFGSHLLPFAFLHGNPWLCNCEILYFRRWLQDNA
ENVYVWKQGVDVKAMTSNVASVQCDNSDKFPVYKYPGKGCPTLGDEGDTDLYDYYPEEDT
EGDKVRATRTVVKFPTKAHTTPWGLFYSWSTASLDSQMPSSLHPTQESTKEQTTFPPRWT
PNFTLHMESITFSKTPKSTTEPTPSPTTSEPVPEPAPNMTTLEPTPSPTTPEPTSEPAPS
PTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTPIPTIATSPTILVSATSLITPKSTFLT
TTKPVSLLESTKKTIPELDQPPKLRGVLQGHLESSRNDPFLHPDFCCLLPLGFYVLGLFW
LLFASVVLILLLSWVGHVKPQALDSGQGAALTTATQTTHLELQRGRQVTVPRAWLLFLRG
SLPTFRSSLFLWVRPNGRVGPLVAGRRPSALSQGRGQDLLSTVSIRYSGHSL
NT seq 1959 nt NT seq  +upstreamnt  +downstreamnt
atgcctctcctcctcttgctgctcctgctgccaagccccttacacccccaccccatctgt
gaggtctccaaagtggccagccacctagaagtgaactgtgacaagaggaatctgacagcg
ctgcctccagacctgccgaaagacacaaccatcctccacctgagtgagaacctcctgtac
accttctccctggcaaccctgatgccttacactcgcctcactcagctgaacctagatagg
tgcgagctcaccaagctccaggtcgatgggacgctgccagtgctggggaccctggatcta
tcccacaatcagctgcaaagcctgcccttgctagggcagacactgcctgctctcaccgtc
ctggacgtctccttcaaccggctgacctcgctgcctcttggtgccctgcgtggtcttggc
gaactccaagagctctacctgaaaggcaatgagctgaagaccctgcccccagggctcctg
acgcccacacccaagctggagaagctcagtctggctaacaacaacttgactgagctcccc
gctgggctcctgaatgggctggagaatctcgacacccttctcctccaagagaactcgctg
tatacaataccaaagggcttttttgggtcccacctcctgccttttgcttttctccacggg
aacccctggttatgcaactgtgagatcctctattttcgtcgctggctgcaggacaatgct
gaaaatgtctacgtatggaagcaaggtgtggacgtcaaggccatgacctctaacgtggcc
agtgtgcagtgtgacaattcagacaagtttcccgtctacaaatacccaggaaaggggtgc
cccacccttggtgatgaaggtgacacagacctatatgattactacccagaagaggacact
gagggcgataaggtgcgtgccacaaggactgtggtcaagttccccaccaaagcccataca
accccctggggtctattctactcatggtccactgcttctctagacagccaaatgccctcc
tccttgcatccaacacaagaatccactaaggagcagaccacattcccacctagatggacc
ccaaatttcacacttcacatggaatccatcacattctccaaaactccaaaatccactact
gaaccaaccccaagcccgaccacctcagagcccgtcccggagcccgccccaaacatgacc
accctggagcccactccaagcccgaccaccccagagcccacctcagagcccgcccccagc
ccgaccaccccggagcccacctcagagcccgcccccagcccgaccaccccagagcccacc
tcagagcccgcccccagcccgaccaccccggagcccaccccaatcccgaccatcgccaca
agcccgaccatcctggtgtctgccacaagcctgatcactccaaaaagcacatttttaact
accacaaaacccgtatcactcttagaatccaccaaaaaaaccatccctgaacttgatcag
ccaccaaagctccgtggggtgctccaagggcatttggagagctccagaaatgaccctttt
ctccaccccgacttttgctgcctcctccccctgggcttctatgtcttgggtctcttctgg
ctgctctttgcctctgtggtcctcatcctgctgctgagctgggttgggcatgtgaaacca
caggccctggactctggccaaggtgctgctctgaccacagccacacaaaccacacacctg
gagctgcagaggggacggcaagtgacagtgccccgggcctggctgctcttccttcgaggt
tcgcttcccactttccgctccagcctcttcctgtgggtacggcctaatggccgtgtgggg
cctctagtggcaggaaggaggccctcagctctgagtcagggtcgtggtcaggacctgctg
agcacagtgagcattaggtactctggccacagcctctga

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]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    2812 (GP1BB)
 09150 Organismal Systems
  09151 Immune system
   04640 Hematopoietic cell lineage
    2812 (GP1BB)
   04611 Platelet activation
    2812 (GP1BB)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04090 CD molecules [BR:hsa04090]
    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

KEGG   Homo sapiens (human): 2814Help
Entry
2814              CDS       T01001                                 

Gene name
GP5, CD42d, GPV
Definition
(RefSeq) glycoprotein V platelet
  KO
K06260  platelet glycoprotein V
Organism
hsa  Homo sapiens (human)
Pathway
hsa04512  ECM-receptor interaction
hsa04611  Platelet activation
hsa04640  Hematopoietic cell lineage
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    2814 (GP5)
 09150 Organismal Systems
  09151 Immune system
   04640 Hematopoietic cell lineage
    2814 (GP5)
   04611 Platelet activation
    2814 (GP5)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04090 CD molecules [BR:hsa04090]
    2814 (GP5)
CD molecules [BR:hsa04090]
 Proteins
  2814 (GP5)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: LRR_8 LRR_4 LRR_5 LRR_9 LRRCT LRR_1
Motif
Other DBs
NCBI-GeneID: 2814
NCBI-ProteinID: NP_004479
OMIM: 173511
HGNC: 4443
Ensembl: ENSG00000178732
Vega: OTTHUMG00000150345
Pharos: P40197(Tbio)
UniProt: P40197
Position
3q29
AA seq 560 aa AA seqDB search
MLRGTLLCAVLGLLRAQPFPCPPACKCVFRDAAQCSGGDVARISALGLPTNLTHILLFGM
GRGVLQSQSFSGMTVLQRLMISDSHISAVAPGTFSDLIKLKTLRLSRNKITHLPGALLDK
MVLLEQLFLDHNALRGIDQNMFQKLVNLQELALNQNQLDFLPASLFTNLENLKLLDLSGN
NLTHLPKGLLGAQAKLERLLLHSNRLVSLDSGLLNSLGALTELQFHRNHIRSIAPGAFDR
LPNLSSLTLSRNHLAFLPSALFLHSHNLTLLTLFENPLAELPGVLFGEMGGLQELWLNRT
QLRTLPAAAFRNLSRLRYLGVTLSPRLSALPQGAFQGLGELQVLALHSNGLTALPDGLLR
GLGKLRQVSLRRNRLRALPRALFRNLSSLESVQLDHNQLETLPGDVFGALPRLTEVLLGH
NSWRCDCGLGPFLGWLRQHLGLVGGEEPPRCAGPGAHAGLPLWALPGGDAECPGPRGPPP
RPAADSSSEAPVHPALAPNSSEPWVWAQPVTTGKGQDHSPFWGFYFLLLAVQAMITVIIV
FAMIKIGQLFRKLIRERALG
NT seq 1683 nt NT seq  +upstreamnt  +downstreamnt
atgctgagggggactctactgtgcgcggtgctcgggcttctgcgcgcccagcccttcccc
tgtccgccagcttgcaagtgtgtcttccgggacgccgcgcagtgctcggggggcgacgtg
gcgcgcatctccgcgctaggcctgcccaccaacctcacgcacatcctgctcttcggaatg
ggccgcggcgtcctgcagagccagagcttcagcggcatgaccgtcctgcagcgcctcatg
atctccgacagccacatttccgccgttgcccccggcaccttcagtgacctgataaaactg
aaaaccctgaggctgtcgcgcaacaaaatcacgcatcttccaggtgcgctgctggataag
atggtgctcctggagcagttgtttttggaccacaatgcgctaaggggcattgaccaaaac
atgtttcagaaactggttaacctgcaggagctcgctctgaaccagaatcagctcgatttc
cttcctgccagtctcttcacgaatctggagaacctgaagttgttggatttatcgggaaac
aacctgacccacctgcccaaggggttgcttggagcacaggctaagctcgagagacttctg
ctccactcgaaccgccttgtgtctctggattcggggctgttgaacagcctgggcgccctg
acggagctgcagttccaccgaaatcacatccgttccatcgcacccggggccttcgaccgg
ctcccaaacctcagttctttgacgctttcgagaaaccaccttgcgtttctcccctctgcg
ctctttcttcattcgcacaatctgactctgttgactctgttcgagaacccgctggcagag
ctcccgggggtgctcttcggggagatggggggcctgcaggagctgtggctgaaccgcacc
cagctgcgcaccctgcccgccgccgccttccgcaacctgagccgcctgcggtacttaggg
gtgactctgagcccgcggctgagcgcgcttccgcagggcgccttccagggccttggcgag
ctccaggtgctcgccctgcactccaacggcctgaccgccctccccgacggcttgctgcgc
ggcctcggcaagctgcgccaggtgtccctgcgccgcaacaggctgcgcgccctgccccgt
gccctcttccgcaatctcagcagcctggagagcgtccagctcgaccacaaccagctggag
accctgcctggcgacgtgtttggggctctgccccggctgacggaggtcctgttggggcac
aactcctggcgctgcgactgtggcctggggcccttcctggggtggctgcggcagcaccta
ggcctcgtgggcggggaagagcccccacggtgcgcaggccctggggcgcacgccggcctg
ccgctctgggccctgccggggggtgacgcggagtgcccgggcccccggggcccgcctccc
cgccccgctgcggacagctcctcggaagcccctgtccacccagccttggctcccaacagc
tcagaaccctgggtgtgggcccagccggtgaccacgggcaaaggtcaagatcatagtccg
ttctgggggttttattttctgcttttagctgttcaggccatgatcaccgtgatcatcgtg
tttgctatgattaaaattggccaactctttcgaaaattaatcagagagagagcccttggg
taa

KEGG   Homo sapiens (human): 2815Help
Entry
2815              CDS       T01001                                 

Gene name
GP9, CD42a, GPIX
Definition
(RefSeq) glycoprotein IX platelet
  KO
K06263  platelet glycoprotein IX
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]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    2815 (GP9)
 09150 Organismal Systems
  09151 Immune system
   04640 Hematopoietic cell lineage
    2815 (GP9)
   04611 Platelet activation
    2815 (GP9)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04090 CD molecules [BR:hsa04090]
    2815 (GP9)
CD molecules [BR:hsa04090]
 Proteins
  2815 (GP9)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: LRRNT LRR_8 LRR_4 LRRCT LRR_9
Motif
Other DBs
NCBI-GeneID: 2815
NCBI-ProteinID: NP_000165
OMIM: 173515
HGNC: 4444
Ensembl: ENSG00000169704
Vega: OTTHUMG00000159944
Pharos: P14770(Tbio)
UniProt: P14770
Position
3q21.3
AA seq 177 aa AA seqDB search
MPAWGALFLLWATAEATKDCPSPCTCRALETMGLWVDCRGHGLTALPALPARTRHLLLAN
NSLQSVPPGAFDHLPQLQTLDVTQNPWHCDCSLTYLRLWLEDRTPEALLQVRCASPSLAA
HGPLGRLTGYQLGSCGWQLQASWVRPGVLWDVALVAVAALGLALLAGLLCATTEALD
NT seq 534 nt NT seq  +upstreamnt  +downstreamnt
atgcctgcctggggagccctgttcctgctctgggccacagcagaggccaccaaggactgc
cccagcccatgtacctgccgcgccctggaaaccatggggctgtgggtggactgcaggggc
cacggactcacggccctgcctgccctgccggcccgcacccgccaccttctgctggccaac
aacagccttcagtccgtgcccccgggagcctttgaccacctgccccagctgcagaccctc
gatgtgacgcagaacccctggcactgtgactgcagcctcacctatctgcgcctctggctg
gaggaccgcacgcccgaggccctgctgcaggtccgctgtgccagccccagcctcgctgcc
catggcccgctgggccggctgacaggctaccagctgggcagctgtggctggcagctgcag
gcgtcctgggtgcgcccgggggtcttgtgggacgtggcgctggtcgccgtggccgcgctg
ggcctggctcttctggctggcctgctgtgtgccaccacagaggccctggattga

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