Gene: Ass1

Basic information

Tag Content
Uniprot ID P16460
Entrez ID 11898
Genbank protein ID AAA37266.1; AAH02074.1; AAB60708.1; AAB60706.1; AAB60707.1; AAH87556.1;
Genbank nucleotide ID NM_007494.3
Ensembl protein ID ENSMUSP00000099904
Ensembl nucleotide ID ENSMUSG00000076441
Gene name Argininosuccinate synthase
Gene symbol Ass1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage E14.5
Data sources Homology search
Reference
Functional description One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues.
Sequence
MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF 60
IEDVSKEFVE EFIWPAVQSS ALYEDRYLLG TSLARPCIAR RQVEIAQREG AKYVSHGATG 120
KGNDQVRFEL TCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKSPWS 180
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNSP DVLEIEFKKG VPVKVTNIKD 240
GTTRTTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF 300
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIQK SQERVEGKVQ VSVFKGQVYI 360
LGRESPLSLY NEELVSMNVQ GDYEPIDATG FININSLRLK EYHRLQSKVT AK 412

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologASS1280726P14568Bos taurusPredictionMore>>
1:1 orthologASS1A0A452F1Z3Capra hircusPredictionMore>>
1:1 orthologASS1445P00966CL/PHomo sapiensPublicationMore>>
1:1 orthologAss111898P16460E14.5Mus musculusPredictionMore>>
1:1 orthologASS1743223H2QY18Pan troglodytesPredictionMore>>
1:1 ortholog414411A0A480HLI7Sus scrofaPredictionMore>>
1:1 orthologAss125698P09034Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
ASS1rs7860909A>GPCR-RFLP20739017

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004055 argininosuccinate synthase activityISS
GO:0004055 argininosuccinate synthase activityISO
GO:0004055 argininosuccinate synthase activityIBA
GO:0005515 protein bindingIPI
GO:0005524 ATP bindingIEA
GO:0015643 toxic substance bindingISO
GO:0016597 amino acid bindingISO
GO:0042802 identical protein bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0000050 urea cycleISS
GO:0000050 urea cycleIEA
GO:0000050 urea cycleISO
GO:0000050 urea cycleIBA
GO:0000052 citrulline metabolic processISO
GO:0000053 argininosuccinate metabolic processISO
GO:0000053 argininosuccinate metabolic processIBA
GO:0001822 kidney developmentIEA
GO:0001889 liver developmentIEA
GO:0006526 arginine biosynthetic processISS
GO:0006526 arginine biosynthetic processIEA
GO:0006526 arginine biosynthetic processISO
GO:0006526 arginine biosynthetic processIBA
GO:0006531 aspartate metabolic processISO
GO:0006953 acute-phase responseIEA
GO:0007494 midgut developmentIEA
GO:0007568 agingIEA
GO:0007584 response to nutrientIEA
GO:0007623 circadian rhythmISO
GO:0007623 circadian rhythmIDA
GO:0010043 response to zinc ionISO
GO:0010046 response to mycotoxinISO
GO:0032355 response to estradiolIEA
GO:0045429 positive regulation of nitric oxide biosynthetic processISO
GO:0051384 response to glucocorticoidISO
GO:0060416 response to growth hormoneIEA
GO:0060539 diaphragm developmentIEA
GO:0071222 cellular response to lipopolysaccharideIEA
GO:0071230 cellular response to amino acid stimulusIEA
GO:0071242 cellular response to ammonium ionIEA
GO:0071320 cellular response to cAMPIEA
GO:0071346 cellular response to interferon-gammaIEA
GO:0071356 cellular response to tumor necrosis factorIEA
GO:0071377 cellular response to glucagon stimulusIEA
GO:0071400 cellular response to oleic acidIEA
GO:0071418 cellular response to amine stimulusIEA
GO:0071499 cellular response to laminar fluid shear stressISO
GO:0071549 cellular response to dexamethasone stimulusIEA
GO:1903038 negative regulation of leukocyte cell-cell adhesionISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISO
GO:0005737 cytoplasmISO
GO:0005737 cytoplasmIBA
GO:0005739 mitochondrionIDA
GO:0005741 mitochondrial outer membraneISO
GO:0005764 lysosomeISO
GO:0005783 endoplasmic reticulumISO
GO:0005829 cytosolISO
GO:0043005 neuron projectionISO
GO:0043025 neuronal cell bodyISO
GO:0043204 perikaryonISO
GO:0043209 myelin sheathHDA
GO:0070852 cell body fiberISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1430728 MetabolismIEA
R-MMU-70635 Urea cycleIEA
R-MMU-71291 Metabolism of amino acids and derivativesIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0007 Acetylation
KW-0028 Amino-acid biosynthesis
KW-0055 Arginine biosynthesis
KW-0067 ATP-binding
KW-0963 Cytoplasm
KW-0903 Direct protein sequencing
KW-0436 Ligase
KW-0547 Nucleotide-binding
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0835 Urea cycle

Interpro

InterPro ID InterPro Term
IPR001518 Arginosuc_synth
IPR018223 Arginosuc_synth_CS
IPR023434 Arginosuc_synth_type_1_subfam
IPR024074 AS_cat/multimer_dom_body
IPR014729 Rossmann-like_a/b/a_fold

PROSITE

PROSITE ID PROSITE Term
PS00564 ARGININOSUCCIN_SYN_1
PS00565 ARGININOSUCCIN_SYN_2

Pfam

Pfam ID Pfam Term
PF00764 Arginosuc_synth

Protein-protein interaction

Protein-miRNA interaction