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

Basic Information

Gene ID

7318

Name

UBA7

Synonym

D8|UBA1B|UBE1L|UBE2;ubiquitin-like modifier activating enzyme 7;UBA7;ubiquitin-like modifier activating enzyme 7

Definition

UBA1, ubiquitin-activating enzyme E1 homolog B|UBA7, ubiquitin-activating enzyme E1|ubiquitin-activating enzyme 7|ubiquitin-activating enzyme E1 homolog|ubiquitin-activating enzyme E1-related protein|ubiquitin-activating enzyme-2|ubiquitin-like modifier-a

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 UBA7

Pathways and Diseases

Pathway

Ubiquitin proteasome pathway;PANTHER;P00060

Pathway

Ubiquitin mediated proteolysis;KEGG PATHWAY;hsa04120

Pathway

Parkinson's disease;KEGG PATHWAY;hsa05012

Disease

Leukoencephalopathy;FunDO

Disease

Rheumatoid arthritis;FunDO

External Links

Links to Entrez Gene

7318

Links to all GeneRIF Items

7318

Links to iHOP

7318

Sequence Information

Nucleotide Sequence

>7318 : length: 3039
atggatgccctggacgcttcgaagctactggatgaggagctgtattcaagacagctgtat
gtgctgggctcacctgccatgcagaggattcagggagccagggtcctggtgtcaggcctg
cagggcctgggggccgaggtggccaagaacttggttctgatgggtgtgggcagcctcact
ctgcatgatccccaccccacctgctggtccgacctggctgcccagtttctcctctcagag
caggacttggaaaggagcagagccgaggcctctcaagagctcttggctcagctcaacaga
gctgtccaggtcgtcgtgcacacgggtgacatcactgaggacctgctgttggacttccag
gtggtggtgctgactgctgcaaagctggaggagcagctgaaggtgggcaccttgtgtcat
aagcatggagtttgctttctggcggctgacacccggggcctcgtggggcagttgttctgt
gactttggtgaggacttcactgtgcaggaccccacagaggcagaacccctgacagctgcc
atccagcacatctcccagggctcccctggcattctcactctgaggaaaggggccaatacc
cactacttccgtgatggagacttggtgactttctcgggaattgagggaatggttgagctc
aacgactgtgatccccggtctatccacgtgcgggaggatgggtccctggagattggagac
acaacaactttctctcggtacttgcgtggtggggctatcactgaagtcaagagacccaag
actgtgagacataagtccctggacacagccctgctccagccccatgtggtggcccagagc
tcccaggaagttcaccatgcccactgcctgcatcaggccttctgtgcactgcacaagttc
cagcacctccatggccggccaccccagccctgggatcctgttgatgcagagactgtggtg
ggcctggcccgggacctggaaccactgaagcggacagaggaagagccactggaagagcca
ctggatgaggccctagtgcggacagtcgccctaagcagtgcaggtgtcttgagccctatg
gtggccatgctgggtgcagtagctgcccaggaagtgctgaaggcaatctccaggaagttc
atgcctctggaccagtggctttactttgatgccctcgattgtcttccggaagatggggag
ctccttcccagtcctgaggactgtgccctgagaggcagccgctatgatgggcaaattgca
gtgtttggggctggttttcaggagaaactgagacgccagcactacctcctggtgggcgct
ggtgccattggttgtgagctgctcaaagtctttgccctagtgggactgggggccgggaac
agcgggggcttgactgttgttgacatggaccacatagagcgctccaatctcagccgtcag
ttcctcttcaggtcccaggacgttggtagacccaaggcagaggtggctgcagcagctgcc
cggggcctgaacccagacttacaggtgatcccgctcacctacccactggatcccaccaca
gagcacatctatggggataactttttctcccgtgtggatggtgtggctgctgccctggac
agtttccaggcccggcgctatgtggctgctcgttgcacccactatctgaagccactgctg
gaggcaggcacatcgggcacctggggcagtgctacagtattcatgccacatgtgactgag
gcctacagagcccctgcctcagctgcagcttctgaggatgccccctaccctgtctgtacc
gtgcggtacttccctagcacagccgagcacaccctgcagtgggcccggcatgagtttgaa
gaactcttccgactgtctgcagagaccatcaaccaccaccaacaggcacacacttccctg
gcagacatggatgagccacagacactcaccttactgaagccagtgcttggggtcctgaga
gtgcgtccacagaactggcaagactgtgtggcgtgggctcttggccactggaaactctgc
tttcattatggcatcaaacagctgctgaggcacttcccacctaataaagtgcttgaggat
ggaactcccttctggtcaggtcccaaacagtgtccccagcccttggagtttgacaccaac
caagacacacacctcctctacgtactggcagctgccaacctgtatgcccagatgcatggg
ctgcctggctcacaggactggactgcactcagggagctgctgaagctgctgccacagcct
gacccccaacagatggcccccatctttgctagtaatctagagctggcttcggcttctgct
gagtttggccctgagcagcagaaggaactgaacaaagccctggaagtctggagtgtgggc
cctcccctgaagcctctgatgtttgagaaggatgatgacagcaacttccatgtggacttt
gtggtagcggcagctagcctgagatgtcagaactacgggattccaccggtcaaccgtgcc
cagagcaagcgaattgtgggccagattatcccagccattgccaccactacagcagctgtg
gcaggcctgttgggcctggagctgtataaggtggtgagtgggccacggcctcgtagtgcc
tttcgccacagctacctacatctggctgaaaactacctcatccgctatatgccttttgcc
ccagccatccagacgttccatcacctgaagtggacctcttgggaccgtctgaaggtacca
gctgggcagcctgagaggaccctggagtcgctgctggctcatcttcaggagcagcacggg
ttgagggtgaggatcctgctgcacggctcagccctgctctatgcggccggatggtcacct
gaaaagcaggcccagcacctgcccctcagggtgacagaactggttcagcagctgacaggc
caggcacctgctcctgggcagcgggtgttggtgctagagctgagctgtgagggtgacgac
gaggacactgccttcccacctctgcactatgagctgtga

Protein Sequence

>7318 : length: 1012
MDALDASKLLDEELYSRQLYVLGSPAMQRIQGARVLVSGLQGLGAEVAKNLVLMGVGSLT
LHDPHPTCWSDLAAQFLLSEQDLERSRAEASQELLAQLNRAVQVVVHTGDITEDLLLDFQ
VVVLTAAKLEEQLKVGTLCHKHGVCFLAADTRGLVGQLFCDFGEDFTVQDPTEAEPLTAA
IQHISQGSPGILTLRKGANTHYFRDGDLVTFSGIEGMVELNDCDPRSIHVREDGSLEIGD
TTTFSRYLRGGAITEVKRPKTVRHKSLDTALLQPHVVAQSSQEVHHAHCLHQAFCALHKF
QHLHGRPPQPWDPVDAETVVGLARDLEPLKRTEEEPLEEPLDEALVRTVALSSAGVLSPM
VAMLGAVAAQEVLKAISRKFMPLDQWLYFDALDCLPEDGELLPSPEDCALRGSRYDGQIA
VFGAGFQEKLRRQHYLLVGAGAIGCELLKVFALVGLGAGNSGGLTVVDMDHIERSNLSRQ
FLFRSQDVGRPKAEVAAAAARGLNPDLQVIPLTYPLDPTTEHIYGDNFFSRVDGVAAALD
SFQARRYVAARCTHYLKPLLEAGTSGTWGSATVFMPHVTEAYRAPASAAASEDAPYPVCT
VRYFPSTAEHTLQWARHEFEELFRLSAETINHHQQAHTSLADMDEPQTLTLLKPVLGVLR
VRPQNWQDCVAWALGHWKLCFHYGIKQLLRHFPPNKVLEDGTPFWSGPKQCPQPLEFDTN
QDTHLLYVLAAANLYAQMHGLPGSQDWTALRELLKLLPQPDPQQMAPIFASNLELASASA
EFGPEQQKELNKALEVWSVGPPLKPLMFEKDDDSNFHVDFVVAAASLRCQNYGIPPVNRA
QSKRIVGQIIPAIATTTAAVAGLLGLELYKVVSGPRPRSAFRHSYLHLAENYLIRYMPFA
PAIQTFHHLKWTSWDRLKVPAGQPERTLESLLAHLQEQHGLRVRILLHGSALLYAAGWSP
EKQAQHLPLRVTELVQQLTGQAPAPGQRVLVLELSCEGDDEDTAFPPLHYEL



')