Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

51517

Name

NCKIPSD

Synonym

AF3P21|DIP|DIP1|ORF1|SPIN90|WASLBP|WISH;NCK interacting protein with SH3 domain;NCKIPSD;NCK interacting protein with SH3 domain

Definition

54 kDa VacA-interacting protein|54 kDa vimentin-interacting protein|90 kDa SH3 protein interacting with Nck|DIP-1|NCK-interacting protein with SH3 domain|SH3 adapter protein SPIN90|SH3 protein interacting with Nck, 90 kDa|VIP54|WASP-interacting SH3-domain

Position

3p21

Gene Type

protein-coding

PAH Type

Description

PAH

"We observed linkage evidence in four regions: 3q22 ([median log of the odds (LOD) = 3.43]), 3p12 (median LOD) = 2.35), 2p22 (median LOD = 2.21), and 13q21 (median LOD = 2.09). When used in conjunction with the non-parametric bootstrap, our approach yields high-resolution to identify candidate gene regions containing putative BMPR2-interacting genes. Imputation of the disease model by LOD-score maximization indicates that the 3q22 locus alone predicts most FPAH cases in BMPR2 mutation carriers, providing strong evidence that BMPR2 and the 3q22 locus interact epistatically."
More detail of all Human literatures about NCKIPSD

External Links

Links to Entrez Gene

51517

Links to all GeneRIF Items

51517

Links to iHOP

51517

Sequence Information

Nucleotide Sequence

>51517 : length: 2169
atgtaccgcgcgctgtacgcgttccgctcggcggagcccaacgcgctggcgttcgccgcg
ggcgagaccttcctggtgctagagcgaagcagcgcgcactggtggctggccgcgcgggcg
cgcagtggtgagacgggctacgtgccgccagcctacctgcgccgcctgcagggcctggag
caggatgtcctccaggccattgaccgggccatcgaggctgtacacaacacagccatgcgg
gatggtggcaagtacagcctggaacagcgtggagtcctccagaagctgatccaccaccgg
aaagagaccctgtcacgcagaggcccttcagcctccagtgttgcagttatgacctcatca
accagtgaccaccacttggatgctgctgcagccaggcagcccaatggggtgtgtcgagct
gggttcgagcggcagcacagcctacccagttctgagcatcttggggcagatggaggcctc
taccagatcccacttccatcttcccagatcccaccacagcctcgccgagcagcacccacc
acaccgcccccaccagtgaagcgccgagaccgcgaggccctgatggcctctgggagtggt
ggccacaacaccatgccctccgggggtaactctgtgtccagcggctcctcagtcagcagc
acctccctggacacgctctataccagctccagcccatctgaaccaggctccagctgctca
cccacacccccacctgtgccccgccgaggcacccacaccaccgtgtcccaagtccagccc
cctccctccaaggcatcagcacctgaaccccctgcagaagaagaagtggcaactggtaca
acctcagcctctgatgacctggaagccctgggtacactgagcctggggaccacagaggag
aaggcagcagctgaggcggctgtgcccaggaccattggggccgagctgatggagctggtg
cggagaaacactggcctgagccacgaattatgccgggtggccatcggcatcatagtgggt
cacatccaggcctcggtgccggccagctcaccagtcatggagcaggtcctcctctcactc
gtagagggcaaggacctcagcatggccctgccctcagggcaggtctgccacgaccagcag
aggctggaggtgatctttgcagacctggctcgccggaaggacgacgcccagcagcgcagt
tgggcactatatgaggatgagggtgtcatccgctgctacctagaggagctgctgcatatt
ctgactgatgcagaccctgaagtttgcaagaaaatgtgcaagagaaacgagttcgagtct
gtcctggccttggtggcctattaccaaatggaacaccgagcatcactgcggctgctgctc
ctcaagtgctttggcgccatgtgcagcctggatgcagccatcatctccacgcttgtgtca
tccgtgctgcctgtagagctggcgagggacatgcagacagacacgcaggaccaccagaaa
ctctgttactctgccctcatcctggccatggtcttctccatgggagaggcagtgccctat
gcacactatgagcacctgggcacgcctttcgcccagttcctactgaacatcgtcgaggat
gggctgcccttggacaccacagagcagctgccggacctctgcgtgaacctgcttctggct
ctcaacctgcacctgccagctgctgaccagaatgtcatcatggctgccctgagcaaacac
gccaatgtcaagatcttctccgagaagctgttgttgctcctgaacagaggggatgaccct
gtgcgcatcttcaaacatgagccacagccaccacactctgtcctcaagttcctgcaggac
gtgtttggcagcccggccacagctgccatcttctaccacacagacatgatggctctcatt
gacatcactgtgcggcacatcgcagacctgtcaccaggagacaagctgcgcatggagtac
ctctccctgatgcatgctatagtccgcaccacaccctacctgcagcaccgccaccggcta
cccgacctgcaggccatactgcgacgcatcctgaatgaggaggagacctcaccccagtgc
cagatggaccgcatgattgtccgagagatgtgcaaggaattcctggtgctgggggaggct
cccagctag

Protein Sequence

>51517 : length: 722
MYRALYAFRSAEPNALAFAAGETFLVLERSSAHWWLAARARSGETGYVPPAYLRRLQGLE
QDVLQAIDRAIEAVHNTAMRDGGKYSLEQRGVLQKLIHHRKETLSRRGPSASSVAVMTSS
TSDHHLDAAAARQPNGVCRAGFERQHSLPSSEHLGADGGLYQIPLPSSQIPPQPRRAAPT
TPPPPVKRRDREALMASGSGGHNTMPSGGNSVSSGSSVSSTSLDTLYTSSSPSEPGSSCS
PTPPPVPRRGTHTTVSQVQPPPSKASAPEPPAEEEVATGTTSASDDLEALGTLSLGTTEE
KAAAEAAVPRTIGAELMELVRRNTGLSHELCRVAIGIIVGHIQASVPASSPVMEQVLLSL
VEGKDLSMALPSGQVCHDQQRLEVIFADLARRKDDAQQRSWALYEDEGVIRCYLEELLHI
LTDADPEVCKKMCKRNEFESVLALVAYYQMEHRASLRLLLLKCFGAMCSLDAAIISTLVS
SVLPVELARDMQTDTQDHQKLCYSALILAMVFSMGEAVPYAHYEHLGTPFAQFLLNIVED
GLPLDTTEQLPDLCVNLLLALNLHLPAADQNVIMAALSKHANVKIFSEKLLLLLNRGDDP
VRIFKHEPQPPHSVLKFLQDVFGSPATAAIFYHTDMMALIDITVRHIADLSPGDKLRMEY
LSLMHAIVRTTPYLQHRHRLPDLQAILRRILNEEETSPQCQMDRMIVREMCKEFLVLGEA
PS



')