UniProtKB - Q80Z25 (OFD1_MOUSE)
Oral-facial-digital syndrome 1 protein homolog
Ofd1
Functioni
GO - Molecular functioni
- alpha-tubulin binding Source: UniProtKB
- gamma-tubulin binding Source: UniProtKB
- identical protein binding Source: MGI
GO - Biological processi
- axoneme assembly Source: MGI
- cilium assembly Source: UniProtKB
- embryonic body morphogenesis Source: UniProtKB
- epithelial cilium movement involved in determination of left/right asymmetry Source: UniProtKB
- negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation Source: UniProtKB
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
Reactomei | R-MMU-2565942, Regulation of PLK1 Activity at G2/M Transition R-MMU-380259, Loss of Nlp from mitotic centrosomes R-MMU-380270, Recruitment of mitotic centrosome proteins and complexes R-MMU-380284, Loss of proteins required for interphase microtubule organization from the centrosome R-MMU-380320, Recruitment of NuMA to mitotic centrosomes R-MMU-5610787, Hedgehog 'off' state R-MMU-5620912, Anchoring of the basal body to the plasma membrane R-MMU-8854518, AURKA Activation by TPX2 |
Names & Taxonomyi
Protein namesi | Recommended name: Oral-facial-digital syndrome 1 protein homolog |
Gene namesi | Name:Ofd1 |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:1350328, Ofd1 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Cytoskeleton
- centriole 1 Publication
- centriolar satellite 1 Publication
- cilium basal body By similarity
Note: Localizes to centriole distal ends and to centriolar satellites (PubMed:20230748, PubMed:24089205). Localization to centrioles and pericentriolar satellites may be mediated by KIAA0753/OFIP (By similarity).By similarity
Cytoskeleton
- centriolar satellite Source: UniProtKB
- centriole Source: UniProtKB
- centrosome Source: MGI
- ciliary basal body Source: UniProtKB
Extracellular region or secreted
- extracellular region Source: GOC
Nucleus
- nucleus Source: UniProtKB-SubCell
Other locations
- cilium Source: UniProtKB
- cytoplasm Source: UniProtKB-KW
- motile cilium Source: GO_Central
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, Cytoskeleton, NucleusPathology & Biotechi
Disruption phenotypei
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 73 | S → A: Induces centriole elongation. Impaired IFT88 recruitment. Impaired ciliogenesis. 1 Publication | 1 | |
Mutagenesisi | 78 | A → T: Induces centriole elongation. Impaired CEP164 and IFT88 recruitment. Impaired ciliogenesis. 1 Publication | 1 | |
Mutagenesisi | 137 | G → S: Induces centriole elongation. Reduced ciliogenesis. 1 Publication | 1 | |
Mutagenesisi | 358 – 360 | KDD → FSY: Shortened centrioles. Reduced ciliogenesis. 1 Publication | 3 | |
Mutagenesisi | 435 | S → R: Induces centriole elongation. Impaired IFT88 recruitment. Reduced ciliogenesis. 1 Publication | 1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000278573 | 1 – 1017 | Oral-facial-digital syndrome 1 protein homologAdd BLAST | 1017 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 664 | PhosphoserineBy similarity | 1 | |
Modified residuei | 670 | PhosphoserineCombined sources | 1 | |
Modified residuei | 687 | PhosphoserineBy similarity | 1 | |
Modified residuei | 722 | PhosphoserineBy similarity | 1 | |
Modified residuei | 747 | PhosphoserineCombined sources | 1 | |
Modified residuei | 791 | PhosphoserineCombined sources | 1 | |
Modified residuei | 823 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q80Z25 |
jPOSTi | Q80Z25 |
MaxQBi | Q80Z25 |
PaxDbi | Q80Z25 |
PRIDEi | Q80Z25 |
PTM databases
iPTMneti | Q80Z25 |
PhosphoSitePlusi | Q80Z25 |
Interactioni
Subunit structurei
Homooligomer.
Interacts with LCA5.
Interacts with RUVBL1; the interaction is direct and may mediate interaction with the NuA4 histone acetyltransferase complex.
Interacts with SDCCAG8; the interaction is direct.
Interacts with MAP1LC3B.
Interacts with C2CD3; OFD1 may act as a egative regulator of C2CD3.
Forms a complex with KIAA0753/OFIP and CEP20/FOR20; the interaction with CEP20 is detected only in the presence of KIAA0753.
Interacts with PCM1; this interaction may be mediated by KIAA0753/OFIP (PubMed:26643951).
By similarity1 PublicationGO - Molecular functioni
- alpha-tubulin binding Source: UniProtKB
- gamma-tubulin binding Source: UniProtKB
- identical protein binding Source: MGI
Protein-protein interaction databases
BioGRIDi | 231852, 3 interactors |
IntActi | Q80Z25, 1 interactor |
STRINGi | 10090.ENSMUSP00000041744 |
Miscellaneous databases
RNActi | Q80Z25, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 69 – 101 | LisHPROSITE-ProRule annotationAdd BLAST | 33 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 609 – 666 | Mediates homooligomerizationBy similarityAdd BLAST | 58 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 188 – 557 | Sequence analysisAdd BLAST | 370 | |
Coiled coili | 626 – 659 | Sequence analysisAdd BLAST | 34 | |
Coiled coili | 895 – 966 | Sequence analysisAdd BLAST | 72 |
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502S109, Eukaryota |
InParanoidi | Q80Z25 |
OrthoDBi | 294646at2759 |
Family and domain databases
InterProi | View protein in InterPro IPR006594, LisH |
Pfami | View protein in Pfam PF16045, LisH_2, 1 hit |
SMARTi | View protein in SMART SM00667, LisH, 1 hit |
PROSITEi | View protein in PROSITE PS50896, LISH, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
10 20 30 40 50
MAQSNMPHKS DVLSQDELRK KLYQTFKDRG VLDTLQTQLR NQLIHELMHP
60 70 80 90 100
VLSGEVKPPS ISVEGSALLI GASNSLVADH LQRCGYEYSL SVFFPESGLA
110 120 130 140 150
KEKIFTMQDL LQLIRINPSS SLYKSLISGF DKENKKGFLM SFLKELAEYY
160 170 180 190 200
QAKESCDAET QTSTTFPSQV SLAEKFQLID AQFADGFPHR SKLESLETKL
210 220 230 240 250
NEYKKEVQHQ LQVEMCHKLK YFREAEITKV KMEERRKYEK ELAEFQNEFE
260 270 280 290 300
RTCQAKNEAL ISQEKNSLER IKKHREMESK EIYAQRQLLL NDIALLRGRE
310 320 330 340 350
AELKERIETF ELTQKLQEEK IKSEAEALER REQNLKNIED TYDQKLKTEL
360 370 380 390 400
LKYQLELKDD YITRTNKLLE EERKNKEKTI HLQEELTVIN SKKEELSKSV
410 420 430 440 450
KHMKEVELEL ESVKAQFLAI SKQNHLLNEK VREMSDYSQL KEEKVELQAQ
460 470 480 490 500
NKLLKLQLEE TRNENLRLLD RITQPPPELV IFQKELQKTE KAMELEHKDF
510 520 530 540 550
ETHRQALEKQ LQSEIENSAQ LRTQIAEYDA SVKRLTVQVA ELKSQLKQTQ
560 570 580 590 600
IALENEVYRN PKHSLIHSLS GLLLSGKMAP HSEDKSGDFL NVPLEQNKVI
610 620 630 640 650
AGAVMSRVPP YVNTATEASS PESDFEFIAS STKAKVRELE QEAERLEKAF
660 670 680 690 700
RTYYQRATQN PSTSPQPAKS PPSVNSVAAL RSIASSSMDR PVSAEDRVVS
710 720 730 740 750
EQPLGDMLKE EMSDMSKAFM GSVVSRPRRT SSSTRLSSTP HPKSRRSLDN
760 770 780 790 800
EMYLEGLGRL HMTSSSPLLD RVSASPAASP SPCPERTAQA SPVPSRHSFS
810 820 830 840 850
GLPEQNACLY QRQTETQDKS ELSNVDKQSL KDEKFEPPFR WNKTEQFEAE
860 870 880 890 900
GLHPAGDMPG IDFAVATQSS RLISYDYPSA VQSQTGEQDE QELWELHMKE
910 920 930 940 950
RRQREEQRHN ERQEALERER RELGKLEQER RMIEESLKME MEEELEKSVQ
960 970 980 990 1000
DQKDKSAHCE NTLEKYMKII QQRQEESNAD KSSKKSGKEC SLVDMMMPSD
1010
KDESSPGFSH EEPDDMW
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA2AEG2 | A2AEG2_MOUSE | Oral-facial-digital syndrome 1 prot... | Ofd1 | 1,019 | Annotation score: |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ438159 mRNA Translation: CAD27225.1 BC119070 mRNA Translation: AAI19071.1 BC120487 mRNA Translation: AAI20488.1 |
RefSeqi | NP_803178.2, NM_177429.3 |
Genome annotation databases
GeneIDi | 237222 |
KEGGi | mmu:237222 |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ438159 mRNA Translation: CAD27225.1 BC119070 mRNA Translation: AAI19071.1 BC120487 mRNA Translation: AAI20488.1 |
RefSeqi | NP_803178.2, NM_177429.3 |
3D structure databases
SMRi | Q80Z25 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 231852, 3 interactors |
IntActi | Q80Z25, 1 interactor |
STRINGi | 10090.ENSMUSP00000041744 |
PTM databases
iPTMneti | Q80Z25 |
PhosphoSitePlusi | Q80Z25 |
Proteomic databases
EPDi | Q80Z25 |
jPOSTi | Q80Z25 |
MaxQBi | Q80Z25 |
PaxDbi | Q80Z25 |
PRIDEi | Q80Z25 |
Genome annotation databases
GeneIDi | 237222 |
KEGGi | mmu:237222 |
Organism-specific databases
CTDi | 8481 |
MGIi | MGI:1350328, Ofd1 |
Phylogenomic databases
eggNOGi | ENOG502S109, Eukaryota |
InParanoidi | Q80Z25 |
OrthoDBi | 294646at2759 |
Enzyme and pathway databases
Reactomei | R-MMU-2565942, Regulation of PLK1 Activity at G2/M Transition R-MMU-380259, Loss of Nlp from mitotic centrosomes R-MMU-380270, Recruitment of mitotic centrosome proteins and complexes R-MMU-380284, Loss of proteins required for interphase microtubule organization from the centrosome R-MMU-380320, Recruitment of NuMA to mitotic centrosomes R-MMU-5610787, Hedgehog 'off' state R-MMU-5620912, Anchoring of the basal body to the plasma membrane R-MMU-8854518, AURKA Activation by TPX2 |
Miscellaneous databases
BioGRID-ORCSi | 237222, 4 hits in 18 CRISPR screens |
ChiTaRSi | Ofd1, mouse |
PROi | PR:Q80Z25 |
RNActi | Q80Z25, protein |
SOURCEi | Search... |
Family and domain databases
InterProi | View protein in InterPro IPR006594, LisH |
Pfami | View protein in Pfam PF16045, LisH_2, 1 hit |
SMARTi | View protein in SMART SM00667, LisH, 1 hit |
PROSITEi | View protein in PROSITE PS50896, LISH, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | OFD1_MOUSE | |
Accessioni | Q80Z25Primary (citable) accession number: Q80Z25 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 20, 2007 |
Last sequence update: | June 1, 2003 | |
Last modified: | December 2, 2020 | |
This is version 109 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families