Logo
full name
Meckel syndrome, type 1

synonyms
BBS13, MES, MKS, POC12, MKS1, ENSG00000011143

HGNC
HGNC:7121

Entrez Gene
Gene:54903

ENSEMBL
ENSG00000011143

location
chr: 17
start: 56282797
stop: 56296966
strand: -

OMIM
OMIM:609883: MKS1
OMIM:615990: Bardet-Biedl syndrome 13
OMIM:617121: Joubert syndrome 28
OMIM:249000: Meckel syndrome 1

transcripts
NM_001165927.1
NM_017777.3

pathways
Anchoring of the basal body to the plasma membrane [NCBI:1268847] [REACTOME:R-HSA-5620912] [PUBMED:21816947] [PUBMED:23747070] [PUBMED:19575670] [PUBMED:23348840] [PUBMED:13978319] [PUBMED:20819941] [PUBMED:5661997] [PUBMED:23530209] [PUBMED:24469809] [PUBMED:21725307] [PUBMED:21680046] [PUBMED:21427764] [PUBMED:23351793] [PUBMED:11676918] [PUBMED:22653444] [PUBMED:25047614] [PUBMED:21422230]
Assembly of the primary cilium [NCBI:1268846] [REACTOME:R-HSA-5617833] [PUBMED:22118932] [PUBMED:23351793] [PUBMED:25040720] [PUBMED:17955020] [PUBMED:22653444] [PUBMED:20395968] [PUBMED:20399632] [PUBMED:23945166] [PUBMED:19575670] [PUBMED:24296415] [PUBMED:20145001] [PUBMED:21427764] [PUBMED:22389062]
Hedgehog 'off' state [NCBI:1269636] [REACTOME:R-HSA-5610787] [PUBMED:20395968] [PUBMED:23719536] [PUBMED:21502959] [PUBMED:21801010]
Organelle biogenesis and maintenance [NCBI:1268838] [REACTOME:R-HSA-1852241] [PUBMED:8608592] [PUBMED:16103713]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:19648010] [PUBMED:17604717] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:15863030] [PUBMED:21252999] [PUBMED:19379690] [PUBMED:19536106] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:15450248] [PUBMED:15520807] [PUBMED:16939974] [PUBMED:18483217] [PUBMED:18043707] [PUBMED:19762341] [PUBMED:21781017] [PUBMED:17084981] [PUBMED:19619488] [PUBMED:17496910]
Signaling by Hedgehog [NCBI:1269633] [REACTOME:R-HSA-5358351] [PUBMED:19081070] [PUBMED:21801010] [PUBMED:15549094] [PUBMED:23719536]