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full name
Abelson helper integration site 1

synonyms
AHI-1, dJ71N10.1, JBTS3, ORF1, AHI1, ENSG00000135541

HGNC
HGNC:21575

Entrez Gene
Gene:54806

ENSEMBL
ENSG00000135541

location
chr: 6
start: 135604670
stop: 135818903
strand: -

OMIM
OMIM:608894: AHI1 (Autosomal recessive inheritance,Heterogeneous)
OMIM:608629: Joubert syndrome 3

transcripts
NM_001134830.1
NM_017651.4
NM_001134831.1
NM_001134832.1

pathways
Anchoring of the basal body to the plasma membrane [NCBI:1268847] [REACTOME:R-HSA-5620912] [PUBMED:21816947] [PUBMED:23747070] [PUBMED:19575670] [PUBMED:13978319] [PUBMED:23348840] [PUBMED:25047614] [PUBMED:20819941] [PUBMED:5661997] [PUBMED:21422230] [PUBMED:24469809] [PUBMED:23530209] [PUBMED:21725307] [PUBMED:21680046] [PUBMED:23351793] [PUBMED:21427764] [PUBMED:11676918] [PUBMED:22653444]
Cilium Assembly [NCBI:1268846] [REACTOME:R-HSA-5617833] [PUBMED:21427764] [PUBMED:23351793] [PUBMED:25040720] [PUBMED:17955020] [PUBMED:22118932] [PUBMED:22653444] [PUBMED:22389062] [PUBMED:20399632] [PUBMED:25047619] [PUBMED:20395968] [PUBMED:23945166] [PUBMED:19575670] [PUBMED:24296415] [PUBMED:20145001] [PUBMED:19602418]
Organelle biogenesis and maintenance [NCBI:1268838] [REACTOME:R-HSA-1852241] [PUBMED:8608592] [PUBMED:16103713]