Property Summary

NCBI Gene PubMed Count 9
Grant Count 2
Funding $84,292.8
PubMed Score 8.38
PubTator Score 2.16

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Synonym

Accession Q8N142 Q86TT6 Q8N714 AMPSase 1
Symbols MPD5

Gene

PANTHER Protein Class (1)

 Grant Application (2)

PDB

2GJO  

Gene RIF (2)

PMID Text
26506222 Mutations in ADSSL1 are the novel genetic cause of autosomal recessive adolescent onset distal myopathy.
15786719 A novel muscle isozyme of adenylosuccinate synthetase, human AdSSL1, is identified from human bone marrow stromal cells.

AA Sequence

MSGTRASNDRPPGAGGVKRGRLQQEAAATGSRVTVVLGAQWGDEGKGKVVDLLATDADIISRCQGGNNAG      1 - 70
HTVVVDGKEYDFHLLPSGIINTKAVSFIGNGVVIHLPGLFEEAEKNEKKGLKDWEKRLIISDRAHLVFDF     71 - 140
HQAVDGLQEVQRQAQEGKNIGTTKKGIGPTYSSKAARTGLRICDLLSDFDEFSSRFKNLAHQHQSMFPTL    141 - 210
EIDIEGQLKRLKGFAERIRPMVRDGVYFMYEALHGPPKKILVEGANAALLDIDFGTYPFVTSSNCTVGGV    211 - 280
CTGLGIPPQNIGDVYGVVKAYTTRVGIGAFPTEQINEIGGLLQTRGHEWGVTTGRKRRCGWLDLMILRYA    281 - 350
HMVNGFTALALTKLDILDVLGEVKVGVSYKLNGKRIPYFPANQEMLQKVEVEYETLPGWKADTTGARRWE    351 - 420
DLPPQAQNYIRFVENHVGVAVKWVGVGKSRESMIQLF                                     421 - 457
//

Text Mined References (10)

PMID Year Title
26506222 2016 ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
22984654 2012 Beta-amyloid toxicity modifier genes and the risk of Alzheimer's disease.
15786719 2005 Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11560929 2001 Recombinant mouse muscle adenylosuccinate synthetase: overexpression, kinetics, and crystal structure.
1592113 1992 Cloning and characterization of the cDNA encoding human adenylosuccinate synthetase.
1574589 1992 De novo purine nucleotide biosynthesis.