PAFAH1B1
protein-coding gene in the species Homo sapiens
Facts
13 properties- Instance of
- gene
- Subclass of
- protein-coding gene
- Chromosome
- human chromosome 17[15]
- Cytogenetic location
- 17p13.3[18]
- Encodes
- Platelet activating factor acetylhydrolase 1b regulatory subunit 1, Platelet-activating factor acetylhydrolase IB subunit alpha[12][13]
- Expressed in
- sperm, middle temporal gyrus, left testis, right testis, cerebellar vermis, frontal pole, pons, paraflocculus of cerebellum, orbitofrontal cortex, lateral nuclear group of thalamus[19][20][21][22][23][24][25][26][27]
- Found in taxon
- Homo sapiens[14]
- Genetic association
- lissencephaly due to LIS1 mutation[16]
- HomoloGene ID
- 371[3]
- Strand orientation
- forward strand[17]
🏷️ Also known as
en platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
en LIS1
en LIS2
en MDCR
en MDS
en NudF
en PAFAH
en PAFAH1B1
en platelet activating factor acetylhydrolase 1b regulatory subunit 1
ar بروتين LIS1 المشفر بواسطة جين PAFAH1B1
🔖 Identifiers · 12
- Image (Wikimedia Commons)
- Protein PAFAH1B1 PDB 1uuj.png ↗
- Ensembl gene ID
- ENSG00000007168
- Ensembl transcript ID
- ENST00000610190, ENST00000397193, ENST00000397195, ENST00000570400, ENST00000571289, ENST00000571495, ENST00000572915, ENST00000574213, ENST00000574468, ENST00000574816, ENST00000575477, ENST00000576586, ENST00000609078, ENST00000675430, ENST00000675202, ENST00000675084, ENST00000676201, ENST00000674608, ENST00000675331, ENST00000675574, ENST00000676098, ENST00000676077, ENST00000676353, ENST00000675764, ENST00000674717, ENST00000675621, ENST00000675390, ENST00000676456, ENST00000675385, ENST00000676188
- Entrez Gene ID
- 5048
- Exact match
- identifiers.org
- Freebase ID
- /m/02z4p5n
- HGNC ID
- 8574
- HGNC gene symbol
- PAFAH1B1
- Microsoft Academic ID (discontinued)
- 2779716320
- OMIM ID
- 601545
- RefSeq RNA ID
- NM_000430, XM_011523901, XM_011523902, XM_011523903, XM_017024701, XM_017024703, XM_047436162, XM_047436163, XM_047436164, XM_047446825
- UMLS CUI
- C1418245
🔗 Connections
Expressed in 5
Chromosome 1
Found in taxon 1
Instance of 1
← Genetic association 1
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