Gene: Ofd1

Basic information

Tag Content
Uniprot ID Q80Z25
Entrez ID 237222
Genbank protein ID AAI19071.1; CAD27225.1; AAI20488.1;
Genbank nucleotide ID NM_177429.3
Ensembl protein ID
Ensembl nucleotide ID
Gene name Oral-facial-digital syndrome 1 protein homolog
Gene symbol Ofd1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 16311594
Functional description Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation.
Sequence
MAQSNMPHKS DVLSQDELRK KLYQTFKDRG VLDTLQTQLR NQLIHELMHP VLSGEVKPPS 60
ISVEGSALLI GASNSLVADH LQRCGYEYSL SVFFPESGLA KEKIFTMQDL LQLIRINPSS 120
SLYKSLISGF DKENKKGFLM SFLKELAEYY QAKESCDAET QTSTTFPSQV SLAEKFQLID 180
AQFADGFPHR SKLESLETKL NEYKKEVQHQ LQVEMCHKLK YFREAEITKV KMEERRKYEK 240
ELAEFQNEFE RTCQAKNEAL ISQEKNSLER IKKHREMESK EIYAQRQLLL NDIALLRGRE 300
AELKERIETF ELTQKLQEEK IKSEAEALER REQNLKNIED TYDQKLKTEL LKYQLELKDD 360
YITRTNKLLE EERKNKEKTI HLQEELTVIN SKKEELSKSV KHMKEVELEL ESVKAQFLAI 420
SKQNHLLNEK VREMSDYSQL KEEKVELQAQ NKLLKLQLEE TRNENLRLLD RITQPPPELV 480
IFQKELQKTE KAMELEHKDF ETHRQALEKQ LQSEIENSAQ LRTQIAEYDA SVKRLTVQVA 540
ELKSQLKQTQ IALENEVYRN PKHSLIHSLS GLLLSGKMAP HSEDKSGDFL NVPLEQNKVI 600
AGAVMSRVPP YVNTATEASS PESDFEFIAS STKAKVRELE QEAERLEKAF RTYYQRATQN 660
PSTSPQPAKS PPSVNSVAAL RSIASSSMDR PVSAEDRVVS EQPLGDMLKE EMSDMSKAFM 720
GSVVSRPRRT SSSTRLSSTP HPKSRRSLDN EMYLEGLGRL HMTSSSPLLD RVSASPAASP 780
SPCPERTAQA SPVPSRHSFS GLPEQNACLY QRQTETQDKS ELSNVDKQSL KDEKFEPPFR 840
WNKTEQFEAE GLHPAGDMPG IDFAVATQSS RLISYDYPSA VQSQTGEQDE QELWELHMKE 900
RRQREEQRHN ERQEALERER RELGKLEQER RMIEESLKME MEEELEKSVQ DQKDKSAHCE 960
NTLEKYMKII QQRQEESNAD KSSKKSGKEC SLVDMMMPSD KDESSPGFSH EEPDDMW 1017

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0042802 identical protein bindingISO
GO:0043014 alpha-tubulin bindingIDA
GO:0043015 gamma-tubulin bindingIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0010172 embryonic body morphogenesisIMP
GO:0035082 axoneme assemblyIMP
GO:0035082 axoneme assemblyIBA
GO:0060271 cilium assemblyISO
GO:0060271 cilium assemblyIMP
GO:0060271 cilium assemblyIDA
GO:0060287 epithelial cilium movement involved in determination of left/right asymmetryIMP
GO:2000314 negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formationIMP
GO:0000278 mitotic cell cycleIMP
GO:0007099 centriole replicationIMP
GO:0090307 mitotic spindle assemblyIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionIEA
GO:0005634 nucleusIEA
GO:0005737 cytoplasmIEA
GO:0005813 centrosomeISO
GO:0005813 centrosomeIBA
GO:0005814 centrioleISO
GO:0005814 centrioleIDA
GO:0005814 centrioleIBA
GO:0005929 ciliumISO
GO:0005929 ciliumIDA
GO:0034451 centriolar satelliteIDA
GO:0036064 ciliary basal bodyISO
GO:0036064 ciliary basal bodyIDA
GO:0036064 ciliary basal bodyIBA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-1640170 Cell CycleIEA
R-MMU-1852241 Organelle biogenesis and maintenanceIEA
R-MMU-2565942 Regulation of PLK1 Activity at G2/M TransitionIEA
R-MMU-380259 Loss of Nlp from mitotic centrosomesIEA
R-MMU-380270 Recruitment of mitotic centrosome proteins and complexesIEA
R-MMU-380284 Loss of proteins required for interphase microtubule organization from the centrosomeIEA
R-MMU-380287 Centrosome maturationIEA
R-MMU-380320 Recruitment of NuMA to mitotic centrosomesIEA
R-MMU-453274 Mitotic G2-G2/M phasesIEA
R-MMU-5358351 Signaling by HedgehogIEA
R-MMU-5610787 Hedgehog 'off' stateIEA
R-MMU-5617833 Cilium AssemblyIEA
R-MMU-5620912 Anchoring of the basal body to the plasma membraneIEA
R-MMU-68877 Mitotic PrometaphaseIEA
R-MMU-68886 M PhaseIEA
R-MMU-69275 G2/M TransitionIEA
R-MMU-69278 Cell Cycle, MitoticIEA
R-MMU-8854518 AURKA Activation by TPX2IEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0966 Cell projection
KW-0969 Cilium
KW-0970 Cilium biogenesis/degradation
KW-0175 Coiled coil
KW-0963 Cytoplasm
KW-0206 Cytoskeleton
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR006594 LisH

PROSITE

PROSITE ID PROSITE Term
PS50896 LISH

Pfam

Pfam ID Pfam Term
PF16045 LisH_2

Protein-miRNA interaction