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AMP-Desaminase

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{{#if: | {{#if: | {{#if:| {{#if: 747 / 879 / 767 Aminosäuren | {{#if: Homotetramer | {{#if: | {{#if: | {{#if: 0 (AMPD1), 4 (AMPD2), 3 (AMPD3) | {{#if: {{#if: |AMPD1|AMPD1}}{{#if: |AMPD2|AMPD2}}, {{#if: |AMPD3|AMPD3}}P23109Vorlage:CASRN102770 | {{#if: {{#if: |AMPD1|AMPD1}}{{#if: |AMPD2|AMPD2}}, {{#if: |AMPD3|AMPD3}} | {{#if: P23109Vorlage:CASRN102770 | {{#if: | {{#if:| {{#if: | {{#if: 3.5.4.6HydrolaseDesaminierungAMP + H2OIMP + NH3 | {{#if: 3.5.4.6Hydrolase| {{#if: | {{#if: | {{#if: Desaminierung| {{#if: AMP + H2O| {{#if: IMP + NH3| {{#if: Eukaryoten<ref>InterPro-Eintrag</ref>{{#if: P23109 | {{#ifeq: | NV ||1}}|}}| {{#if: P23109 | {{#ifeq: | NV || | style="background:#C3FDB8; color:#000000;" | Homologie-Familie {{#if: Eukaryoten<ref>InterPro-Eintrag</ref> | | style="background:#C3FDB8; color:#000000;" | Übergeordnetes Taxon {{#if: | | style="background:#C3FDB8; color:#000000;" | Ausnahmen {{#if: {{#if: Hausmaus | | colspan="3" style="background:#90EE90; color:#202122; text-align:center;" | Orthologe {{#if: ENSG00000116748ENSMUSG00000070385
{{#if: | | AMP-Desaminase }}
AMP-Desaminase }}
Bändermodell des AMPD-Monomer von Arabidopsis thaliana, nach PDB 2A3L
AMP-Desaminase }}
Andere Namen

{{{Andere Namen}}} }}

Vorhandene Strukturdaten: }}

Eigenschaften des menschlichen Proteins

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Masse/Länge Primärstruktur 747 / 879 / 767 Aminosäuren

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Sekundär- bis Quartärstruktur Homotetramer

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Kofaktor

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Präkursor

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Isoformen 0 (AMPD1), 4 (AMPD2), 3 (AMPD3)

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Bezeichner
{{#if:{{#if: |AMPD2|AMPD2}}, {{#if: |AMPD3|AMPD3}} | Gen-Namen | Gen-Name}} | Gen-Name(n) }} {{#if: | {{#if: |[https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC: AMPD1|AMPD1}}] | {{#if: |AMPD1|AMPD1}}}}{{#if:{{#if: |AMPD2|AMPD2}}, {{#if: |AMPD3|AMPD3}} |, {{#if: |AMPD2|AMPD2}}, {{#if: |AMPD3|AMPD3}}}} }}
Externe IDs

{{#if: |

0 | }} - = – valid|1|2=/^[1-9]%d?%d?%d?%d?%d?%d?%d?%d?$/ 0 | Wikipedia:Vorlagenfehler/Vorlage:PubChem}} template= Vorlage:PubChem format=

}} }}{{#invoke:TemplatePar|check

all= 1= opt= 2= 0 | Wikipedia:Vorlagenfehler/Vorlage:PubChem}} template= Vorlage:PubChem format=

}}{{#if: {{#invoke:Wikidata|pageId}}||{{#ifeq: 0 | 0 | }} }}}}{{#if:Vorlage:CASRN | 

 }}

}}

Arzneistoffangaben
ATC-Code 
 }}
 {{#if:|
DrugBank [2] 
 }}
 {{#if:|
Wirkstoffklasse 
 }}

}}

Transporter-Klassifikation
TCDB [3] 
 {{#if: |
Bezeichnung 
 }}

}}

{{#if:|Inhibitorklassifikation|{{#if:|Enzymklassifikationen|Enzymklassifikation}}}}
EC, Kategorie {{#if:3.5.4.6| 3.5.4.6}}{{#if: Hydrolase|, Hydrolase}} }}
MEROPS [4]}}
MEROPS [5]}}
Reaktionsart Desaminierung 
 }}
Substrat AMP + H2O 
 }}
Produkte IMP + NH3 
 }}


}}

Vorkommen
{{#if: [ {{#if: Hovergen}}] [http://hogenom.univ-lyon1.fr/query_sequence?seq=P23109 {{#if: Hovergen}}]}} }} }}
Eukaryoten<ref>InterPro-Eintrag</ref> }}
}}

}}

Mensch Hausmaus
Entrez 
 {{ #if: 270
270 }} 
 {{ #if: 229665
229665 }}
style="background:#C3FDB8; color:#202122;" | Ensembl 
    {{ #if: ENSG00000116748
ENSG00000116748 }} 
    {{ #if: ENSMUSG00000070385
ENSMUSG00000070385 }}

} 

 |-
 | style="background:#C3FDB8; color:#202122;" | UniProt
 {{ #if: P23109
    | | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|P23109}}{{#if:|Vorlage:Abrufdatum}}
    | |  }}
 {{ #if: Q3V1D3
    | | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|Q3V1D3}}{{#if:|Vorlage:Abrufdatum}}
    | |  }}
 |-
 {{#if: NM_000036NM_001033303
    | | style="background:#C3FDB8; color:#202122;" | Refseq (mRNA)
      {{ #if: NM_000036
         | | NM_000036
         | |  }}
      {{ #if: NM_001033303
         | | NM_001033303
         | |  }}
    |}}
 |-
 {{#if: NP_000027NP_001028475
    | | style="background:#C3FDB8; color:#202122;" | Refseq (Protein)
      {{ #if: NP_000027
         | | NP_000027
         | |  }}
      {{ #if: NP_001028475
         | | NP_001028475
         | |  }}
    |}}
 |-
 {{#if: 11146730981146956183103074014103099720
    | | style="background:#C3FDB8; color:#202122;" | Genlocus
      {{#if: 1 
        | {{#if: 114673098 
            | {{#if: 114695618 
                | |  #if: hg38 |?db=hg38|}}&position=chr1:114673098-114695618 Chr 1: {{#expr: 114673098 / 1000000 round 2}} – {{#expr: 114695618 / 1000000 round 2}} Mb 
                | |  }}
            | |  }}
        | |  }}
      {{#if: 3 
        | {{#if: 103074014 
            | {{#if: 103099720 
                | |  #if: mm10 |?db=mm10|}}&position=chr3:103074014-103099720 Chr 3: {{#expr: 103074014 / 1000000 round 2}} – {{#expr: 103099720 / 1000000 round 2}} Mb 
                | |  }}
           | |  }}
       | |  }}
    |}}
 |-
 | style="background:#C3FDB8; color:#202122;" | PubMed-Suche 
 {{ #if: 270
    | | 270
    | |  }}
 {{ #if: 229665
    | | 229665
    | |  }}

| |- | colspan="3" style="background:#90EE90; color:#202122; text-align:center;" | Orthologe (Mensch) |- | style="background:#C3FDB8; color:#202122;" | Entrez | colspan="2" | 270 

 {{#if: ENSG00000116748
    | |-

| style="background:#C3FDB8; color:#202122;" | Ensembl | colspan="2" | ENSG00000116748 }} |- | style="background:#C3FDB8; color:#202122;" | UniProt | colspan="2" | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|P23109}}{{#if:|Vorlage:Abrufdatum}} 

 {{#if: NM_000036
    | |-

| style="background:#C3FDB8; color:#202122;" | Refseq (mRNA) | colspan="2" | NM_000036 }} 

 {{#if: NP_000027
    | |-

| style="background:#C3FDB8; color:#202122;" | Refseq (Protein) | colspan="2" | NP_000027 }} 

 {{#if: 1 
   | {{#if: 114673098 
       | {{#if: 114695618 
           | |-

| style="background:#C3FDB8; color:#202122;" | Genlocus | colspan="2" | #if: hg38 |?db=hg38|}}&position=chr1:114673098-114695618 Chr 1: {{#expr: 114673098 / 1000000 round 2}} – {{#expr: 114695618 / 1000000 round 2}} Mb 

           |  }}
       |  }}
   |  }}

|- | style="background:#C3FDB8; color:#202122;" | PubMed-Suche | colspan="2" | 270 }} {{#if: Hausmaus 

    | {{#if: 229665ENSMUSG00000070385NM_001033303NP_001028475mm103103074014103099720Q3V1D3 
        |
        |  Spezies2= ist definiert, es sind jedoch keine weiteren Angaben zu Spezies2 vorhanden.{{#ifeq:0|0| }} }}
    | {{#if: 229665ENSMUSG00000070385NM_001033303NP_001028475mm103103074014103099720Q3V1D3 
        |  Es sind Angaben zu Spezies2 vorhanden, Spezies2= ist jedoch nicht definiert.{{#ifeq:0|0| }}
        |}}

}} | {{#if: Hausmaus | | colspan="3" style="background:#90EE90; color:#202122; text-align:center;" | Orthologe 

 |-
 | style="background:#C3FDB8; color:#202122;" |
 | style="background:#C3FDB8; color:#202122; text-align:center;" | Mensch
 | style="background:#C3FDB8; color:#202122; text-align:center;" | Hausmaus
 |-
 | style="background:#C3FDB8; color:#202122;" | Entrez
 {{ #if: 270
    | | 270
    | |  }}
 {{ #if: 229665
    | | 229665
    | |  }}
 |-
 {{#if: ENSG00000116748ENSMUSG00000070385
    | | style="background:#C3FDB8; color:#202122;" | Ensembl
    {{ #if: ENSG00000116748
       || ENSG00000116748
       ||  }}
    {{ #if: ENSMUSG00000070385
       || ENSMUSG00000070385
       ||  }}
  |}}
 |-
 | style="background:#C3FDB8; color:#202122;" | UniProt
 {{ #if: P23109
    | | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|P23109}}{{#if:|Vorlage:Abrufdatum}}
    | |  }}
 {{ #if: Q3V1D3
    | | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|Q3V1D3}}{{#if:|Vorlage:Abrufdatum}}
    | |  }}
 |-
 {{#if: NM_000036NM_001033303
    | | style="background:#C3FDB8; color:#202122;" | Refseq (mRNA)
      {{ #if: NM_000036
         | | NM_000036
         | |  }}
      {{ #if: NM_001033303
         | | NM_001033303
         | |  }}
    |}}
 |-
 {{#if: NP_000027NP_001028475
    | | style="background:#C3FDB8; color:#202122;" | Refseq (Protein)
      {{ #if: NP_000027
         | | NP_000027
         | |  }}
      {{ #if: NP_001028475
         | | NP_001028475
         | |  }}
    |}}
 |-
 {{#if: 11146730981146956183103074014103099720
    | | style="background:#C3FDB8; color:#202122;" | Genlocus
      {{#if: 1 
        | {{#if: 114673098 
            | {{#if: 114695618 
                | |  #if: hg38 |?db=hg38|}}&position=chr1:114673098-114695618 Chr 1: {{#expr: 114673098 / 1000000 round 2}} – {{#expr: 114695618 / 1000000 round 2}} Mb 
                | |  }}
            | |  }}
        | |  }}
      {{#if: 3 
        | {{#if: 103074014 
            | {{#if: 103099720 
                | |  #if: mm10 |?db=mm10|}}&position=chr3:103074014-103099720 Chr 3: {{#expr: 103074014 / 1000000 round 2}} – {{#expr: 103099720 / 1000000 round 2}} Mb 
                | |  }}
           | |  }}
       | |  }}
    |}}
 |-
 | style="background:#C3FDB8; color:#202122;" | PubMed-Suche 
 {{ #if: 270
    | | 270
    | |  }}
 {{ #if: 229665
    | | 229665
    | |  }}

| |- | colspan="3" style="background:#90EE90; color:#202122; text-align:center;" | Orthologe (Mensch) |- | style="background:#C3FDB8; color:#202122;" | Entrez | colspan="2" | 270 

 {{#if: ENSG00000116748
    | |-

| style="background:#C3FDB8; color:#202122;" | Ensembl | colspan="2" | ENSG00000116748 }} |- | style="background:#C3FDB8; color:#202122;" | UniProt | colspan="2" | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|P23109}}{{#if:|Vorlage:Abrufdatum}} 

 {{#if: NM_000036
    | |-

| style="background:#C3FDB8; color:#202122;" | Refseq (mRNA) | colspan="2" | NM_000036 }} 

 {{#if: NP_000027
    | |-

| style="background:#C3FDB8; color:#202122;" | Refseq (Protein) | colspan="2" | NP_000027 }} 

 {{#if: 1 
   | {{#if: 114673098 
       | {{#if: 114695618 
           | |-

| style="background:#C3FDB8; color:#202122;" | Genlocus | colspan="2" | #if: hg38 |?db=hg38|}}&position=chr1:114673098-114695618 Chr 1: {{#expr: 114673098 / 1000000 round 2}} – {{#expr: 114695618 / 1000000 round 2}} Mb 

           |  }}
       |  }}
   |  }}

|- | style="background:#C3FDB8; color:#202122;" | PubMed-Suche | colspan="2" | 270 }} {{#if: Hausmaus 

    | {{#if: 229665ENSMUSG00000070385NM_001033303NP_001028475mm103103074014103099720Q3V1D3 
        |
        |  Spezies2= ist definiert, es sind jedoch keine weiteren Angaben zu Spezies2 vorhanden.{{#ifeq:0|0| }} }}
    | {{#if: 229665ENSMUSG00000070385NM_001033303NP_001028475mm103103074014103099720Q3V1D3 
        |  Es sind Angaben zu Spezies2 vorhanden, Spezies2= ist jedoch nicht definiert.{{#ifeq:0|0| }}
        |}}

}} }}

|}{{#if:PDB 2a3l EBI.jpg||}}

AMP-Desaminasen sind Enzyme in Eukaryoten, die die Desaminierung von Adenosinmonophosphat (AMP) zu Inosinmonophosphat (IMP) katalysieren. Diese Reaktion ist Teil des Stoffwechselwegs zur Wiedergewinnung der Purinnukleotide (Salvage Pathway). Beim Menschen sind drei Isoenzyme bekannt, die von verschiedenen Genen in jeweils unterschiedlichen Gewebetypen exprimiert werden (AMPD1 (M-Form, auch: Myoadenylatdesaminase) in Skelettmuskeln, AMPD3 (E-Form) in Erythrozyten, AMPD2 (L-Form) im Rest) und selbst insgesamt sieben Isoformen besitzen. Mutationen im AMPD1- und im AMPD3-Gen können Enzymmangel im entsprechenden Gewebe verursachen, mit dem klinischen Bild des MADD.<ref>{{#if: | | UniProt }} {{#if:|{{{titel}}}|P23109}}{{#if:|Vorlage:Abrufdatum}}</ref>

Die relativ häufige Mutation AMPD1 c.34C>T, p.Q12* scheint das Risiko für Herzerkrankungen und Fettsucht zu verringern. Mindestens eine Studie mit 900 Patienten konnte aber diese Effekte nicht reproduzieren.<ref>{{#invoke:Vorlage:Literatur|f}}{{#if: 

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Katalysierte Reaktion

AMP + H2O ⇒ IMP + NH3

AMP wird zu IMP umgesetzt; Wasser wird verbraucht, Ammoniak entsteht.

Krankheitswert

Störungen der Desaminase führen zum Adenosinmonophosphat-Desaminase-Mangel.

Weblinks

[[b:{{#if:|{{{lang}}}:}}{{#if:Biochemie und Pathobiochemie: Purin-Stoffwechsel|Biochemie und Pathobiochemie: Purin-Stoffwechsel|AMP-Desaminase}}|Wikibooks: {{#if:|{{{2}}}|{{#if:Biochemie und Pathobiochemie: Purin-Stoffwechsel|Biochemie und Pathobiochemie: Purin-Stoffwechsel|AMP-Desaminase}}}}]]{{#switch: 1

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Eintrag zu {{#if:Adenosinmonophosphat-Desaminase-Mangel|Adenosinmonophosphat-Desaminase-Mangel|AMP-Desaminase}}. In: Orphanet (Datenbank für seltene Krankheiten)Vorlage:Abrufdatum }}

Einzelnachweise

<references />

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