Reviewed, UniProtKB/Swiss-Prot Q8N142 (PURA1_HUMAN)

Names and origin

Protein names

Recommended name:
    Adenylosuccinate synthetase isozyme 1
      Short name=AMPSase 1
      Short name=AdSS 1
    EC=6.3.4.4
Alternative name(s):
    IMP--aspartate ligase 1

Gene names

Name:	ADSSL1
Synonyms:	ADSS1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	457 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Plays an important role in the de novo pathway of purine nucleotide biosynthesis By similarity.
Catalytic activity	GTP + IMP + L-aspartate = GDP + phosphate + N(6)-(1,2-dicarboxyethyl)-AMP.
Cofactor	Binds 1 magnesium ion per subunit By similarity.
Pathway	Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 1/2.
Subunit structure	Homodimer By similarity.
Subcellular location	Cytoplasm.
Tissue specificity	Predominantly expressed in skeletal muscle and heart, as well as in several hematopoietic cell lines and solid tumors.
Sequence similarities	Belongs to the adenylosuccinate synthetase family.
Sequence caution	The sequence AAH32039.1 differs from that shown. Reason: Frameshift at position 1.

Ontologies

Keywords
Biological process	Purine biosynthesis
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing
Ligand	GTP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Ligase
PTM	Phosphoprotein
Technical term	3D-structure
Gene Ontology (GO)
Biological process	AMP biosynthetic process Ref.1 Inferred from direct assay. Source: UniProtKB immune system process Ref.1 Non-traceable author statement. Source: UniProtKB
Cellular component	cytoplasm Ref.1 Inferred from direct assay. Source: UniProtKB
Molecular function	GTP binding Ref.1 Non-traceable author statement. Source: UniProtKB adenylosuccinate synthase activity Ref.1 Inferred from direct assay. Source: UniProtKB magnesium ion binding Inferred from electronic annotation. Source: UniProtKB-KW phosphate binding Ref.1 Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N142-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q8N142-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-64: MSGTRASNDR...TDADIISRCQ → MVGRSCGVAT...AGSLTPGGER

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 457	457	Adenylosuccinate synthetase isozyme 1		PRO_0000095132
Regions
	Nucleotide binding	42 – 48	7	GTP Potential
Sites
	Active site	174	1	By similarity
	Active site	181	1	By similarity
	Metal binding	43	1	Magnesium By similarity
	Metal binding	70	1	Magnesium; via carbonyl oxygen By similarity
Amino acid modifications
	Modified residue	388	1	Phosphotyrosine Ref.5
Natural variations
	Alternative sequence	1 – 64	64	MSGTR…ISRCQ → MVGRSCGVATQRQGGGQRPT NLALTLSSSPAHSTALPWLP PRSLQLLSGHSVPAQPTPHL PSACGGPTRVTLGEERAWRS HGSNAGGHTCLPRRTAGAGS LTPGGER in isoform 2.		VSP_008421

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 387341D49721B2EF	FASTA	457	50,208
	10 20 30 40 50 60 MSGTRASNDR PPGAGGVKRG RLQQEAAATG SRVTVVLGAQ WGDEGKGKVV DLLATDADII 70 80 90 100 110 120 SRCQGGNNAG HTVVVDGKEY DFHLLPSGII NTKAVSFIGN GVVIHLPGLF EEAEKNEKKG 130 140 150 160 170 180 LKDWEKRLII SDRAHLVFDF HQAVDGLQEV QRQAQEGKNI GTTKKGIGPT YSSKAARTGL 190 200 210 220 230 240 RICDLLSDFD EFSSRFKNLA HQHQSMFPTL EIDIEGQLKR LKGFAERIRP MVRDGVYFMY 250 260 270 280 290 300 EALHGPPKKI LVEGANAALL DIDFGTYPFV TSSNCTVGGV CTGLGIPPQN IGDVYGVVKA 310 320 330 340 350 360 YTTRVGIGAF PTEQINEIGG LLQTRGHEWG VTTGRKRRCG WLDLMILRYA HMVNGFTALA 370 380 390 400 410 420 LTKLDILDVL GEVKVGVSYK LNGKRIPYFP ANQEMLQKVE VEYETLPGWK ADTTGARRWE 430 440 450 DLPPQAQNYI RFVENHVGVA VKWVGVGKSR ESMIQLF
	Isoform 2. Checksum: 9C561192088BDAAF	FASTA	500	54,562
	10 20 30 40 50 60 MVGRSCGVAT QRQGGGQRPT NLALTLSSSP AHSTALPWLP PRSLQLLSGH SVPAQPTPHL 70 80 90 100 110 120 PSACGGPTRV TLGEERAWRS HGSNAGGHTC LPRRTAGAGS LTPGGERGGN NAGHTVVVDG 130 140 150 160 170 180 KEYDFHLLPS GIINTKAVSF IGNGVVIHLP GLFEEAEKNE KKGLKDWEKR LIISDRAHLV 190 200 210 220 230 240 FDFHQAVDGL QEVQRQAQEG KNIGTTKKGI GPTYSSKAAR TGLRICDLLS DFDEFSSRFK 250 260 270 280 290 300 NLAHQHQSMF PTLEIDIEGQ LKRLKGFAER IRPMVRDGVY FMYEALHGPP KKILVEGANA 310 320 330 340 350 360 ALLDIDFGTY PFVTSSNCTV GGVCTGLGIP PQNIGDVYGV VKAYTTRVGI GAFPTEQINE 370 380 390 400 410 420 IGGLLQTRGH EWGVTTGRKR RCGWLDLMIL RYAHMVNGFT ALALTKLDIL DVLGEVKVGV 430 440 450 460 470 480 SYKLNGKRIP YFPANQEMLQ KVEVEYETLP GWKADTTGAR RWEDLPPQAQ NYIRFVENHV 490 500 GVAVKWVGVG KSRESMIQLF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells." Sun H., Li N., Wang X., Chen T., Shi L., Zhang L., Wang J., Wan T., Cao X. Mol. Cell. Biochem. 269:85-94(2005) [PubMed: 15786719] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Bone marrow stroma.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Heart.
[3]	"Full-length cDNA libraries and normalization." Li W.B., Gruber C., Jessee J., Polayes D. Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Placenta.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Testis.
[5]	"Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer." Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., Mitchell J., Wetzel R., Macneill J., Ren J.M. , Yuan J., Bakalarski C.E., Villen J., Kornhauser J.M., Smith B., Li D., Zhou X., Gygi S.P., Gu T.-L., Polakiewicz R.D., Rush J., Comb M.J. Cell 131:1190-1203(2007) [PubMed: 18083107] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-388, MASS SPECTROMETRY.

Cross-references

Sequence databases

EMBLGenBankDDBJ

AY037159 mRNA. Translation: AAK67646.1.
AK095921 mRNA. Translation: BAC04649.1.
BX248286 mRNA. Translation: CAD62614.1. Different initiation.
BC032039 mRNA. Translation: AAH32039.1. Frameshift.
BC047904 mRNA. Translation: AAH47904.1.

IPI

IPI00167065.
IPI00170914.

RefSeq

NP_689541.1.
NP_954634.1.

UniGene

Hs.592327

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2GJO	model	-	A	27-457	[»]

SMR

Q8N142. Positions 27-457.

ModBase

Search...

PTM databases

PhosphoSite

Q8N142.

Proteomic databases

PRIDE

Q8N142.

Genome annotation databases

Ensembl

ENSG00000185100. Homo sapiens. [Contig view]

GeneID

122622.

KEGG

hsa:122622.

NMPDR

fig|9606.3.peg.10250.

Organism-specific databases

GeneCards

GC14P104261.

HGNC

HGNC:20093. ADSSL1.

MIM

612498. gene.

PharmGKB

PA134974111.

GenAtlas

Search...

Phylogenomic databases

HOVERGEN

Q8N142.

OMA

Q8N142. KAQNYIR.

Enzyme and pathway databases

BRENDA

6.3.4.4. 247.

Reactome

REACT_1698. Nucleotide metabolism.

Gene expression databases

ArrayExpress

Q8N142.

Bgee

Q8N142.

CleanEx

HS_ADSSL1.

GermOnline

ENSG00000185100. Homo sapiens.

Family and domain databases

InterPro

IPR018220. Adenylosuccinate_synthase_AS.
IPR001114. Adenylosuccinate_synthetase.
[Graphical view]

PANTHER

PTHR11846. Asucc_synthtase. 1 hit.

Pfam

PF00709. Adenylsucc_synt. 1 hit.
[Graphical view]

ProDom

PD001188. Asucc_synthtase. 1 hit.
[Graphical view] [Entries sharing at least one domain]

SMART

SM00788. Adenylsucc_synt. 1 hit.
[Graphical view]

TIGRFAMs

TIGR00184. purA. 1 hit.

PROSITE

PS01266. ADENYLOSUCCIN_SYN_1. 1 hit.
PS00513. ADENYLOSUCCIN_SYN_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

DrugBank

DB00128. L-Aspartic Acid.

NextBio

80937.

SOURCE

Search...

Entry information

Entry name

PURA1_HUMAN

Accession

Primary (citable) accession number: Q8N142
Secondary accession number(s): Q86TT6, Q8N714

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 3, 2003
Last sequence update:	October 1, 2002
Last modified:	June 16, 2009
This is version 67 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)