full name
OFD1, centriole and centriolar satellite protein

synonyms
71-7A, CXorf5, JBTS10, RP23, SGBS2, OFD1, ENSG00000046651

HGNC
HGNC:2567

Entrez Gene
Gene:8481

ENSEMBL
ENSG00000046651

location
chr: X
start: 13733549
stop: 13787480
strand: +

OMIM
OMIM:300170: OFD1 (X-linked recessive inheritance)
OMIM:300424: ?Retinitis pigmentosa 23
OMIM:300804: Joubert syndrome 10
OMIM:311200: Orofaciodigital syndrome I
OMIM:300209: Simpson-Golabi-Behmel syndrome, type 2

transcripts
NM_003611.2

pathways
AURKA Activation by TPX2 [NCBI:1383018] [REACTOME:R-HSA-8854518] [PUBMED:14580337] [PUBMED:21147853] [PUBMED:22094468] [PUBMED:21347367]
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]
Cell Cycle [NCBI:1269741] [REACTOME:R-HSA-1640170]
Cell Cycle, Mitotic [NCBI:1269763] [REACTOME:R-HSA-69278]
Centrosome maturation [NCBI:1269805] [REACTOME:R-HSA-380287] [PUBMED:17178454] [PUBMED:18437411]
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]
G2/M Transition [NCBI:1269799] [REACTOME:R-HSA-69275]
Hedgehog 'off' state [NCBI:1269636] [REACTOME:R-HSA-5610787] [PUBMED:21801010] [PUBMED:20395968] [PUBMED:23719536] [PUBMED:21502959]
Loss of Nlp from mitotic centrosomes [NCBI:1269809] [REACTOME:R-HSA-380259] [PUBMED:12852856]
Loss of proteins required for interphase microtubule organization from the centrosome [NCBI:1269808] [REACTOME:R-HSA-380284] [PUBMED:12140259] [PUBMED:12852856]
Mitotic G2-G2/M phases [NCBI:1269797] [REACTOME:R-HSA-453274]
Organelle biogenesis and maintenance [NCBI:1268838] [REACTOME:R-HSA-1852241] [PUBMED:8608592] [PUBMED:16103713]
Recruitment of mitotic centrosome proteins and complexes [NCBI:1269806] [REACTOME:R-HSA-380270] [PUBMED:18437411] [PUBMED:17178454]
Regulation of PLK1 Activity at G2/M Transition [NCBI:1269803] [REACTOME:R-HSA-2565942] [PUBMED:12207013] [PUBMED:18615013] [PUBMED:13678582] [PUBMED:18378770] [PUBMED:18566290] [PUBMED:18477460] [PUBMED:22365832]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by Hedgehog [NCBI:1269633] [REACTOME:R-HSA-5358351] [PUBMED:19081070] [PUBMED:21801010] [PUBMED:15549094] [PUBMED:23719536]