KEGG T01001: 657

Homo sapiens (human): 657

Entry

657 CDS T01001

Gene name

BMPR1A, 10q23del, ACVRLK3, ALK3, CD292, SKR5

Definition

bone morphogenetic protein receptor, type IA (EC:2.7.11.30)

Orthology

K04673

bone morphogenetic protein receptor type-1A [EC:2.7.11.30]

Organism

hsa Homo sapiens (human)

Pathway

hsa04060	Cytokine-cytokine receptor interaction
hsa04350	TGF-beta signaling pathway
hsa04390	Hippo signaling pathway

Disease

H01023	Juvenile polyposis syndrome
H01024	Hereditary mixed polyposis syndrome

Class

Environmental Information Processing; Signal transduction; TGF-beta signaling pathway [PATH:hsa04350]
Environmental Information Processing; Signal transduction; Hippo signaling pathway [PATH:hsa04390]
Environmental Information Processing; Signaling molecules and interaction; Cytokine-cytokine receptor interaction [PATH:hsa04060]

SSDB

Motif

Pfam:

Pkinase Pkinase_Tyr TGF_beta_GS Activin_recp APH

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

2H62 1REW 2H64 2GOO 3QB4 3NH7 1ES7 2K3G

Position

10q22.3

AA seq 532 aa
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLK
CYCSGHCPDDAINNTCITNGHCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQLRR
TIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISMAVCIIAMIIFSSCFCYKHYC
KSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTG
SWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAH
RDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKN
HFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI

NT seq 1599 nt +upstreamnt +downstreamnt
atgcctcagctatacatttacatcagattattgggagcctatttgttcatcatttctcgt
gttcaaggacagaatctggatagtatgcttcatggcactgggatgaaatcagactccgac
cagaaaaagtcagaaaatggagtaaccttagcaccagaggataccttgccttttttaaag
tgctattgctcagggcactgtccagatgatgctattaataacacatgcataactaatgga
cattgctttgccatcatagaagaagatgaccagggagaaaccacattagcttcagggtgt
atgaaatatgaaggatctgattttcagtgcaaagattctccaaaagcccagctacgccgg
acaatagaatgttgtcggaccaatttatgtaaccagtatttgcaacccacactgccccct
gttgtcataggtccgttttttgatggcagcattcgatggctggttttgctcatttctatg
gctgtctgcataattgctatgatcatcttctccagctgcttttgttacaaacattattgc
aagagcatctcaagcagacgtcgttacaatcgtgatttggaacaggatgaagcatttatt
ccagttggagaatcactaaaagaccttattgaccagtcacaaagttctggtagtgggtct
ggactacctttattggttcagcgaactattgccaaacagattcagatggtccggcaagtt
ggtaaaggccgatatggagaagtatggatgggcaaatggcgtggcgaaaaagtggcggtg
aaagtattctttaccactgaagaagccagctggtttcgagaaacagaaatctaccaaact
gtgctaatgcgccatgaaaacatacttggtttcatagcggcagacattaaaggtacaggt
tcctggactcagctctatttgattactgattaccatgaaaatggatctctctatgacttc
ctgaaatgtgctacactggacaccagagccctgcttaaattggcttattcagctgcctgt
ggtctgtgccacctgcacacagaaatttatggcacccaaggaaagcccgcaattgctcat
cgagacctaaagagcaaaaacatcctcatcaagaaaaatgggagttgctgcattgctgac
ctgggccttgctgttaaattcaacagtgacacaaatgaagttgatgtgcccttgaatacc
agggtgggcaccaaacgctacatggctcccgaagtgctggacgaaagcctgaacaaaaac
cacttccagccctacatcatggctgacatctacagcttcggcctaatcatttgggagatg
gctcgtcgttgtatcacaggagggatcgtggaagaataccaattgccatattacaacatg
gtaccgagtgatccgtcatacgaagatatgcgtgaggttgtgtgtgtcaaacgtttgcgg
ccaattgtgtctaatcggtggaacagtgatgaatgtctacgagcagttttgaagctaatg
tcagaatgctgggcccacaatccagcctccagactcacagcattgagaattaagaagacg
cttgccaagatggttgaatcccaagatgtaaaaatctga

All links

Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (7)   
   KEGG DISEASE (2)   
   OMIM (5)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (7)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (17)   
   RefSeq(nuc) (1)   
   GenBank (8)   
   EMBL (8)   
3D Structure (8)   
   PDB (8)   
Protein domain (5)   
   Pfam (5)   
All databases (61)   

Download RDF

DBGET integrated database retrieval system