Bioinformatics and Systems Medicine Laboratory
General information | Expression | Regulation | Mutation | Interaction

Basic Information

Gene ID

5048

Name

PAFAH1B1

Synonymous

LIS1|LIS2|MDCR|MDS|PAFAH;platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa);PAFAH1B1;platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)

Definition

LIS-1|PAF acetylhydrolase 45 kDa subunit|PAF-AH 45 kDa subunit|PAF-AH alpha|PAFAH alpha|lissencephaly 1 protein|lissencephaly-1 protein|platelet-activating factor acetylhydrolase IB subunit alpha|platelet-activating factor acetylhydrolase, isoform Ib, alp

Position

17p13.3

Gene Type

protein-coding

Gene Regulation:

Transcription Factors
Post Transcriptional Modification From dbPTM
Methylation Profile From DiseaseMeth database

Transcription Factors

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Regulation From TransFac database

PAFAH1B1(h) --> LIS1-isoform1(h) (expression).
restin(m.s.) + LIS1(h) <==> restin(m.s.):LIS1(h) (binding)
PAFAH1B1(h) --> LIS1(h) (expression).

Post Transcriptional Modification From dbPTM

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There is no record for PAFAH1B1

Methylation Profile From DiseaseMeth database

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Chromosome

Location

Source

chr17

Promoter: 2442186 - 2444186Agilent_014791

chr17

Promoter: 2442186 - 2444186GSE27584

chr17

Promoter: 2442186 - 2444186Agilent_014791_44K


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