Property Summary

NCBI Gene PubMed Count 9
PubMed Score 8.38
PubTator Score 2.16

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
ependymoma 1.300 3.4e-03
medulloblastoma, large-cell -1.700 2.4e-03
Duchenne muscular dystrophy -1.203 4.0e-08
autosomal dominant Emery-Dreifuss muscul... -1.166 5.2e-05
acute quadriplegic myopathy -1.813 4.0e-05
pancreatic ductal adenocarcinoma liver m... -1.569 2.1e-02
interstitial cystitis -1.500 9.3e-05
nasopharyngeal carcinoma -1.700 3.9e-09
spina bifida 2.604 4.2e-02
pituitary cancer -1.600 4.8e-06
psoriasis -1.200 1.1e-69

Protein-protein Interaction (2)

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.