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Protein

AMP deaminase 1

Gene

AMPD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

AMP deaminase plays a critical role in energy metabolism.

Catalytic activityi

AMP + H2O = IMP + NH3.

Cofactori

Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity

Pathwayi: IMP biosynthesis via salvage pathway

This protein is involved in step 1 of the subpathway that synthesizes IMP from AMP.
Proteins known to be involved in this subpathway in this organism are:
  1. AMP deaminase 3 (AMPD3), AMP deaminase 1 (AMPD1), AMP deaminase 2 (AMPD2)
This subpathway is part of the pathway IMP biosynthesis via salvage pathway, which is itself part of Purine metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes IMP from AMP, the pathway IMP biosynthesis via salvage pathway and in Purine metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi336Zinc; catalyticBy similarity1
Metal bindingi338Zinc; catalyticBy similarity1
Binding sitei338SubstrateBy similarity1
Metal bindingi605Zinc; catalyticBy similarity1
Binding sitei608SubstrateBy similarity1
Active sitei627Proton acceptorPROSITE-ProRule annotation1
Metal bindingi682Zinc; catalyticBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Nucleotide metabolism

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:HS04046-MONOMER.
ReactomeiR-HSA-74217. Purine salvage.
SABIO-RKP23109.
UniPathwayiUPA00591; UER00663.

Names & Taxonomyi

Protein namesi
Recommended name:
AMP deaminase 1 (EC:3.5.4.6)
Alternative name(s):
AMP deaminase isoform M
Myoadenylate deaminase
Gene namesi
Name:AMPD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:468. AMPD1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Myopathy due to myoadenylate deaminase deficiency (MMDD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue.
See also OMIM:615511
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013271421R → W in MMDD; loss of activity. 1 PublicationCorresponds to variant rs35859650dbSNPEnsembl.1
Natural variantiVAR_013272458R → H in MMDD; loss of activity. 1 PublicationCorresponds to variant rs121912682dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi270.
MalaCardsiAMPD1.
MIMi615511. phenotype.
OpenTargetsiENSG00000116748.
Orphaneti45. Adenosine monophosphate deaminase deficiency.
PharmGKBiPA24776.

Chemistry databases

ChEMBLiCHEMBL2869.
DrugBankiDB00131. Adenosine monophosphate.

Polymorphism and mutation databases

BioMutaiAMPD1.
DMDMi384872309.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001944031 – 780AMP deaminase 1Add BLAST780

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei114PhosphothreonineBy similarity1
Modified residuei118PhosphoserineBy similarity1
Modified residuei249PhosphotyrosineBy similarity1
Modified residuei474PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP23109.
PeptideAtlasiP23109.
PRIDEiP23109.

PTM databases

iPTMnetiP23109.
PhosphoSitePlusiP23109.

Expressioni

Gene expression databases

BgeeiENSG00000116748.
CleanExiHS_AMPD1.
GenevisibleiP23109. HS.

Organism-specific databases

HPAiHPA026478.
HPA028080.

Interactioni

Subunit structurei

Homotetramer.

Protein-protein interaction databases

BioGridi106767. 5 interactors.
IntActiP23109. 7 interactors.
STRINGi9606.ENSP00000430075.

Chemistry databases

BindingDBiP23109.

Structurei

3D structure databases

ProteinModelPortaliP23109.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni407 – 412Substrate bindingBy similarity6
Regioni683 – 686Substrate bindingBy similarity4

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1096. Eukaryota.
COG1816. LUCA.
GeneTreeiENSGT00390000008190.
HOGENOMiHOG000092200.
HOVERGENiHBG050494.
InParanoidiP23109.
KOiK01490.
OMAiYCAILES.
OrthoDBiEOG091G01OU.
PhylomeDBiP23109.
TreeFamiTF300439.

Family and domain databases

CDDicd01319. AMPD. 1 hit.
InterProiIPR006650. A/AMP_deam_AS.
IPR001365. A/AMP_deaminase_dom.
IPR006329. AMPD.
IPR029770. AMPD1.
IPR032466. Metal_Hydrolase.
[Graphical view]
PANTHERiPTHR11359. PTHR11359. 1 hit.
PTHR11359:SF1. PTHR11359:SF1. 1 hit.
PfamiPF00962. A_deaminase. 1 hit.
[Graphical view]
PIRSFiPIRSF001251. AMP_deaminase_met. 1 hit.
SUPFAMiSSF51556. SSF51556. 1 hit.
TIGRFAMsiTIGR01429. AMP_deaminase. 1 hit.
PROSITEiPS00485. A_DEAMINASE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P23109-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MNVRIFYSVS QSPHSLLSLL FYCAILESRI SATMPLFKLP AEEKQIDDAM
60 70 80 90 100
RNFAEKVFAS EVKDEGGRQE ISPFDVDEIC PISHHEMQAH IFHLETLSTS
110 120 130 140 150
TEARRKKRFQ GRKTVNLSIP LSETSSTKLS HIDEYISSSP TYQTVPDFQR
160 170 180 190 200
VQITGDYASG VTVEDFEIVC KGLYRALCIR EKYMQKSFQR FPKTPSKYLR
210 220 230 240 250
NIDGEAWVAN ESFYPVFTPP VKKGEDPFRT DNLPENLGYH LKMKDGVVYV
260 270 280 290 300
YPNEAAVSKD EPKPLPYPNL DTFLDDMNFL LALIAQGPVK TYTHRRLKFL
310 320 330 340 350
SSKFQVHQML NEMDELKELK NNPHRDFYNC RKVDTHIHAA ACMNQKHLLR
360 370 380 390 400
FIKKSYQIDA DRVVYSTKEK NLTLKELFAK LKMHPYDLTV DSLDVHAGRQ
410 420 430 440 450
TFQRFDKFND KYNPVGASEL RDLYLKTDNY INGEYFATII KEVGADLVEA
460 470 480 490 500
KYQHAEPRLS IYGRSPDEWS KLSSWFVCNR IHCPNMTWMI QVPRIYDVFR
510 520 530 540 550
SKNFLPHFGK MLENIFMPVF EATINPQADP ELSVFLKHIT GFDSVDDESK
560 570 580 590 600
HSGHMFSSKS PKPQEWTLEK NPSYTYYAYY MYANIMVLNS LRKERGMNTF
610 620 630 640 650
LFRPHCGEAG ALTHLMTAFM IADDISHGLN LKKSPVLQYL FFLAQIPIAM
660 670 680 690 700
SPLSNNSLFL EYAKNPFLDF LQKGLMISLS TDDPMQFHFT KEPLMEEYAI
710 720 730 740 750
AAQVFKLSTC DMCEVARNSV LQCGISHEEK VKFLGDNYLE EGPAGNDIRR
760 770 780
TNVAQIRMAY RYETWCYELN LIAEGLKSTE
Length:780
Mass (Da):90,219
Last modified:April 18, 2012 - v2
Checksum:i2449E96D00312629
GO
Isoform 2 (identifier: P23109-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     41-45: AEEKQ → E

Show »
Length:776
Mass (Da):89,763
Checksum:iB831F57E1D7AA491
GO

Sequence cautioni

The sequence AAA57281 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAG24258 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAF84038 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG36918 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI18828 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti234P → S in BAF84038 (PubMed:14702039).Curated1
Sequence conflicti306V → A in BAF84038 (PubMed:14702039).Curated1
Sequence conflicti467D → G in BAG36918 (PubMed:14702039).Curated1
Sequence conflicti475W → R in BAF84038 (PubMed:14702039).Curated1
Sequence conflicti659F → S in BAF84038 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04886055E → K.Corresponds to variant rs2273268dbSNPEnsembl.1
Natural variantiVAR_01327081P → L Polymorphism; activity comparable to wild-type. 1 PublicationCorresponds to variant rs61752479dbSNPEnsembl.1
Natural variantiVAR_013271421R → W in MMDD; loss of activity. 1 PublicationCorresponds to variant rs35859650dbSNPEnsembl.1
Natural variantiVAR_013272458R → H in MMDD; loss of activity. 1 PublicationCorresponds to variant rs121912682dbSNPEnsembl.1
Natural variantiVAR_035801666P → H in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04263841 – 45AEEKQ → E in isoform 2. Curated5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M37931
, M37920, M37921, M37922, M37923, M37924, M37927, M37928, M37929, M37930 Genomic DNA. Translation: AAG24258.1. Different initiation.
AL096773 Genomic DNA. Translation: CAI18828.1. Different initiation.
AL096773 Genomic DNA. Translation: CAI18830.1.
CH471122 Genomic DNA. Translation: EAW56607.1.
M60092 mRNA. Translation: AAA57281.1. Different initiation.
AK314252 mRNA. Translation: BAG36918.1. Different initiation.
AK291349 mRNA. Translation: BAF84038.1. Different initiation.
CCDSiCCDS53349.1. [P23109-2]
CCDS876.2. [P23109-1]
PIRiI39444.
RefSeqiNP_000027.2. NM_000036.2. [P23109-1]
NP_001166097.1. NM_001172626.1. [P23109-2]
UniGeneiHs.89570.

Genome annotation databases

EnsembliENST00000369538; ENSP00000358551; ENSG00000116748. [P23109-2]
ENST00000520113; ENSP00000430075; ENSG00000116748. [P23109-1]
GeneIDi270.
KEGGihsa:270.
UCSCiuc001efe.3. human. [P23109-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M37931
, M37920, M37921, M37922, M37923, M37924, M37927, M37928, M37929, M37930 Genomic DNA. Translation: AAG24258.1. Different initiation.
AL096773 Genomic DNA. Translation: CAI18828.1. Different initiation.
AL096773 Genomic DNA. Translation: CAI18830.1.
CH471122 Genomic DNA. Translation: EAW56607.1.
M60092 mRNA. Translation: AAA57281.1. Different initiation.
AK314252 mRNA. Translation: BAG36918.1. Different initiation.
AK291349 mRNA. Translation: BAF84038.1. Different initiation.
CCDSiCCDS53349.1. [P23109-2]
CCDS876.2. [P23109-1]
PIRiI39444.
RefSeqiNP_000027.2. NM_000036.2. [P23109-1]
NP_001166097.1. NM_001172626.1. [P23109-2]
UniGeneiHs.89570.

3D structure databases

ProteinModelPortaliP23109.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106767. 5 interactors.
IntActiP23109. 7 interactors.
STRINGi9606.ENSP00000430075.

Chemistry databases

BindingDBiP23109.
ChEMBLiCHEMBL2869.
DrugBankiDB00131. Adenosine monophosphate.

PTM databases

iPTMnetiP23109.
PhosphoSitePlusiP23109.

Polymorphism and mutation databases

BioMutaiAMPD1.
DMDMi384872309.

Proteomic databases

PaxDbiP23109.
PeptideAtlasiP23109.
PRIDEiP23109.

Protocols and materials databases

DNASUi270.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369538; ENSP00000358551; ENSG00000116748. [P23109-2]
ENST00000520113; ENSP00000430075; ENSG00000116748. [P23109-1]
GeneIDi270.
KEGGihsa:270.
UCSCiuc001efe.3. human. [P23109-1]

Organism-specific databases

CTDi270.
DisGeNETi270.
GeneCardsiAMPD1.
H-InvDBHIX0199913.
HGNCiHGNC:468. AMPD1.
HPAiHPA026478.
HPA028080.
MalaCardsiAMPD1.
MIMi102770. gene.
615511. phenotype.
neXtProtiNX_P23109.
OpenTargetsiENSG00000116748.
Orphaneti45. Adenosine monophosphate deaminase deficiency.
PharmGKBiPA24776.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1096. Eukaryota.
COG1816. LUCA.
GeneTreeiENSGT00390000008190.
HOGENOMiHOG000092200.
HOVERGENiHBG050494.
InParanoidiP23109.
KOiK01490.
OMAiYCAILES.
OrthoDBiEOG091G01OU.
PhylomeDBiP23109.
TreeFamiTF300439.

Enzyme and pathway databases

UniPathwayiUPA00591; UER00663.
BioCyciZFISH:HS04046-MONOMER.
ReactomeiR-HSA-74217. Purine salvage.
SABIO-RKP23109.

Miscellaneous databases

ChiTaRSiAMPD1. human.
GeneWikiiAMP_deaminase.
GenomeRNAii270.
PROiP23109.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116748.
CleanExiHS_AMPD1.
GenevisibleiP23109. HS.

Family and domain databases

CDDicd01319. AMPD. 1 hit.
InterProiIPR006650. A/AMP_deam_AS.
IPR001365. A/AMP_deaminase_dom.
IPR006329. AMPD.
IPR029770. AMPD1.
IPR032466. Metal_Hydrolase.
[Graphical view]
PANTHERiPTHR11359. PTHR11359. 1 hit.
PTHR11359:SF1. PTHR11359:SF1. 1 hit.
PfamiPF00962. A_deaminase. 1 hit.
[Graphical view]
PIRSFiPIRSF001251. AMP_deaminase_met. 1 hit.
SUPFAMiSSF51556. SSF51556. 1 hit.
TIGRFAMsiTIGR01429. AMP_deaminase. 1 hit.
PROSITEiPS00485. A_DEAMINASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAMPD1_HUMAN
AccessioniPrimary (citable) accession number: P23109
Secondary accession number(s): A8K5N4
, B2RAM1, F2Z3B3, Q5TF00, Q5TF02
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: April 18, 2012
Last modified: November 30, 2016
This is version 156 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

It is uncertain whether Met-1 or Met-34 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.