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Neurofibromin

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{{#if: | {{#if: | {{#if:7765| {{#if: 2838 Aminosäuren | {{#if: | {{#if: | {{#if: | {{#if: truncated (1304 aa) | {{#if: NF1P2135916220097306 | {{#if: NF1 | {{#if: P2135916220097306 | {{#if: | {{#if:| {{#if: | {{#if: | {{#if: | {{#if: | {{#if: | {{#if: | {{#if: | {{#if: | {{#if: Kiefermäuler{{#if: P21359 | {{#ifeq: | NV ||1}}|}}| {{#if: P21359 | {{#ifeq: | NV || | style="background:#C3FDB8; color:#000000;" | Homologie-Familie {{#if: Kiefermäuler | | style="background:#C3FDB8; color:#000000;" | Übergeordnetes Taxon {{#if: | | style="background:#C3FDB8; color:#000000;" | Ausnahmen {{#if: {{#if: Maus | | colspan="3" style="background:#90EE90; color:#202122; text-align:center;" | Orthologe {{#if: ENSG00000196712ENSMUSG00000020716
{{#if: Neurofibromin 1 | Neurofibromin 1 | Neurofibromin }}
[[Datei:|250x200px|{{#if: Neurofibromin 1 | Neurofibromin 1 | Neurofibromin }}]]
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Andere Namen

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Vorhandene Strukturdaten: }}

Eigenschaften des menschlichen Proteins

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Masse/Länge Primärstruktur 2838 Aminosäuren

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Sekundär- bis Quartärstruktur

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Kofaktor

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Präkursor

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Isoformen truncated (1304 aa)

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Bezeichner
{{#if: | Gen-Namen | Gen-Name}} | Gen-Name(n) }} {{#if:7765 | NF1 | NF1}}{{#if: |, }} }}
Externe IDs

{{#if: |

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Arzneistoffangaben
ATC-Code 
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 {{#if:|
DrugBank [1] 
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 {{#if:|
Wirkstoffklasse 
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}}

Transporter-Klassifikation
TCDB {{{TCDB}}} 
 {{#if: |
Bezeichnung {{{TranspText}}} 
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}}

{{#if:|Inhibitorklassifikation|{{#if:|Enzymklassifikationen|Enzymklassifikation}}}}
EC, Kategorie {{#if:| [2]}}{{#if: |, [[]]}} }}
MEROPS {{{Peptidase_fam}}}}}
MEROPS {{{Inhibitor_fam}}}}}
Reaktionsart 
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Substrat 
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Produkte 
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}}

Vorkommen
{{#if: {{{Homolog_fam}}}|Hovergen}}] {{{Homolog_fam}}}|Hovergen}}]}} }} }}
Kiefermäuler }}
}}

}}

Mensch Maus
Entrez 
 {{ #if: 4763
4763 }} 
 {{ #if: 18015
18015 }}
style="background:#C3FDB8; color:#202122;" | Ensembl 
    {{ #if: ENSG00000196712
ENSG00000196712 }} 
    {{ #if: ENSMUSG00000020716
ENSMUSG00000020716 }}

} 

 |-
 | style="background:#C3FDB8; color:#202122;" | UniProt
 {{ #if: P21359
    | | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|P21359}}{{#if:|Vorlage:Abrufdatum}}
    | |  }}
 {{ #if: Q3TYD2
    | | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|Q3TYD2}}{{#if:|Vorlage:Abrufdatum}}
    | |  }}
 |-
 {{#if: NM_000267NM_010897
    | | style="background:#C3FDB8; color:#202122;" | Refseq (mRNA)
      {{ #if: NM_000267
         | | NM_000267
         | |  }}
      {{ #if: NM_010897
         | | NM_010897
         | |  }}
    |}}
 |-
 {{#if: NP_000258NP_035027
    | | style="background:#C3FDB8; color:#202122;" | Refseq (Protein)
      {{ #if: NP_000258
         | | NP_000258
         | |  }}
      {{ #if: NP_035027
         | | NP_035027
         | |  }}
    |}}
 |-
 {{#if: 172644612126728821117915608779397804
    | | style="background:#C3FDB8; color:#202122;" | Genlocus
      {{#if: 17 
        | {{#if: 26446121 
            | {{#if: 26728821 
                | |  #if:  |?db=|}}&position=chr17:26446121-26728821 Chr 17: {{#expr: 26446121 / 1000000 round 2}} – {{#expr: 26728821 / 1000000 round 2}} Mb 
                | |  }}
            | |  }}
        | |  }}
      {{#if: 11 
        | {{#if: 79156087 
            | {{#if: 79397804 
                | |  #if:  |?db=|}}&position=chr11:79156087-79397804 Chr 11: {{#expr: 79156087 / 1000000 round 2}} – {{#expr: 79397804 / 1000000 round 2}} Mb 
                | |  }}
           | |  }}
       | |  }}
    |}}
 |-
 | style="background:#C3FDB8; color:#202122;" | PubMed-Suche 
 {{ #if: 4763
    | | 4763
    | |  }}
 {{ #if: 18015
    | | 18015
    | |  }}

| |- | colspan="3" style="background:#90EE90; color:#202122; text-align:center;" | Orthologe (Mensch) |- | style="background:#C3FDB8; color:#202122;" | Entrez | colspan="2" | 4763 

 {{#if: ENSG00000196712
    | |-

| style="background:#C3FDB8; color:#202122;" | Ensembl | colspan="2" | ENSG00000196712 }} |- | style="background:#C3FDB8; color:#202122;" | UniProt | colspan="2" | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|P21359}}{{#if:|Vorlage:Abrufdatum}} 

 {{#if: NM_000267
    | |-

| style="background:#C3FDB8; color:#202122;" | Refseq (mRNA) | colspan="2" | NM_000267 }} 

 {{#if: NP_000258
    | |-

| style="background:#C3FDB8; color:#202122;" | Refseq (Protein) | colspan="2" | NP_000258 }} 

 {{#if: 17 
   | {{#if: 26446121 
       | {{#if: 26728821 
           | |-

| style="background:#C3FDB8; color:#202122;" | Genlocus | colspan="2" | #if: |?db=|}}&position=chr17:26446121-26728821 Chr 17: {{#expr: 26446121 / 1000000 round 2}} – {{#expr: 26728821 / 1000000 round 2}} Mb 

           |  }}
       |  }}
   |  }}

|- | style="background:#C3FDB8; color:#202122;" | PubMed-Suche | colspan="2" | 4763 }} {{#if: Maus 

    | {{#if: 18015ENSMUSG00000020716NM_010897NP_035027117915608779397804Q3TYD2 
        |
        |  Spezies2= ist definiert, es sind jedoch keine weiteren Angaben zu Spezies2 vorhanden.{{#ifeq:0|0| }} }}
    | {{#if: 18015ENSMUSG00000020716NM_010897NP_035027117915608779397804Q3TYD2 
        |  Es sind Angaben zu Spezies2 vorhanden, Spezies2= ist jedoch nicht definiert.{{#ifeq:0|0| }}
        |}}

}} | {{#if: Maus | | 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;" | Maus
 |-
 | style="background:#C3FDB8; color:#202122;" | Entrez
 {{ #if: 4763
    | | 4763
    | |  }}
 {{ #if: 18015
    | | 18015
    | |  }}
 |-
 {{#if: ENSG00000196712ENSMUSG00000020716
    | | style="background:#C3FDB8; color:#202122;" | Ensembl
    {{ #if: ENSG00000196712
       || ENSG00000196712
       ||  }}
    {{ #if: ENSMUSG00000020716
       || ENSMUSG00000020716
       ||  }}
  |}}
 |-
 | style="background:#C3FDB8; color:#202122;" | UniProt
 {{ #if: P21359
    | | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|P21359}}{{#if:|Vorlage:Abrufdatum}}
    | |  }}
 {{ #if: Q3TYD2
    | | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|Q3TYD2}}{{#if:|Vorlage:Abrufdatum}}
    | |  }}
 |-
 {{#if: NM_000267NM_010897
    | | style="background:#C3FDB8; color:#202122;" | Refseq (mRNA)
      {{ #if: NM_000267
         | | NM_000267
         | |  }}
      {{ #if: NM_010897
         | | NM_010897
         | |  }}
    |}}
 |-
 {{#if: NP_000258NP_035027
    | | style="background:#C3FDB8; color:#202122;" | Refseq (Protein)
      {{ #if: NP_000258
         | | NP_000258
         | |  }}
      {{ #if: NP_035027
         | | NP_035027
         | |  }}
    |}}
 |-
 {{#if: 172644612126728821117915608779397804
    | | style="background:#C3FDB8; color:#202122;" | Genlocus
      {{#if: 17 
        | {{#if: 26446121 
            | {{#if: 26728821 
                | |  #if:  |?db=|}}&position=chr17:26446121-26728821 Chr 17: {{#expr: 26446121 / 1000000 round 2}} – {{#expr: 26728821 / 1000000 round 2}} Mb 
                | |  }}
            | |  }}
        | |  }}
      {{#if: 11 
        | {{#if: 79156087 
            | {{#if: 79397804 
                | |  #if:  |?db=|}}&position=chr11:79156087-79397804 Chr 11: {{#expr: 79156087 / 1000000 round 2}} – {{#expr: 79397804 / 1000000 round 2}} Mb 
                | |  }}
           | |  }}
       | |  }}
    |}}
 |-
 | style="background:#C3FDB8; color:#202122;" | PubMed-Suche 
 {{ #if: 4763
    | | 4763
    | |  }}
 {{ #if: 18015
    | | 18015
    | |  }}

| |- | colspan="3" style="background:#90EE90; color:#202122; text-align:center;" | Orthologe (Mensch) |- | style="background:#C3FDB8; color:#202122;" | Entrez | colspan="2" | 4763 

 {{#if: ENSG00000196712
    | |-

| style="background:#C3FDB8; color:#202122;" | Ensembl | colspan="2" | ENSG00000196712 }} |- | style="background:#C3FDB8; color:#202122;" | UniProt | colspan="2" | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|P21359}}{{#if:|Vorlage:Abrufdatum}} 

 {{#if: NM_000267
    | |-

| style="background:#C3FDB8; color:#202122;" | Refseq (mRNA) | colspan="2" | NM_000267 }} 

 {{#if: NP_000258
    | |-

| style="background:#C3FDB8; color:#202122;" | Refseq (Protein) | colspan="2" | NP_000258 }} 

 {{#if: 17 
   | {{#if: 26446121 
       | {{#if: 26728821 
           | |-

| style="background:#C3FDB8; color:#202122;" | Genlocus | colspan="2" | #if: |?db=|}}&position=chr17:26446121-26728821 Chr 17: {{#expr: 26446121 / 1000000 round 2}} – {{#expr: 26728821 / 1000000 round 2}} Mb 

           |  }}
       |  }}
   |  }}

|- | style="background:#C3FDB8; color:#202122;" | PubMed-Suche | colspan="2" | 4763 }} {{#if: Maus 

    | {{#if: 18015ENSMUSG00000020716NM_010897NP_035027117915608779397804Q3TYD2 
        |
        |  Spezies2= ist definiert, es sind jedoch keine weiteren Angaben zu Spezies2 vorhanden.{{#ifeq:0|0| }} }}
    | {{#if: 18015ENSMUSG00000020716NM_010897NP_035027117915608779397804Q3TYD2 
        |  Es sind Angaben zu Spezies2 vorhanden, Spezies2= ist jedoch nicht definiert.{{#ifeq:0|0| }}
        |}}

}} }}

|}{{#if:||}}

Neurofibromin 1 ist ein menschliches Protein. Mutationen im Neurofibromin 1 Gen verursachen die Neurofibromatose Typ 1. NF1 ist vermutlich ein negativer Regulator des ras-Signalpfades. Das NF1 erhöht dabei die GTPase-Aktivität der aktiven (GTP-gebundenen) Ras-Form um das 1000-fache, wodurch die inaktive GDP-gebundene Ras-Form verstärkt gebildet wird. Mutationen im NF1-Gen sind nicht nur mit der Neurofibromatose Recklinghausen, sondern auch mit der juvenilen myelomonozytären Leukämie assoziiert. Es gibt verschiedene NF1 mRNA Transcripte, ihre Funktion ist allerdings bislang nicht vollständig aufgeklärt.<ref>{{#if:Vorlage:Cite book/URL|{{#iferror: {{#iferror:{{#invoke:Vorlage:FormatDate|Execute}}|}}| |}}}}{{#if:{{#if: 

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     | Vorlage:Cite book/Meldung
  }}Vorlage:Cite book/Meldung2{{#ifexpr: 0{{#ifeq:^^|^^||+1}}{{#ifeq:^^|^^||+1}}{{#ifeq:Hattori S, Baba H|^^||+1}}{{#ifeq:^^|^^||+1}} > 1
    | Vorlage:Cite book/Meldung
  }}</ref>

Siehe auch

Tumorsuppressorgen

Einzelnachweise

<references />

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