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Protein

Oral-facial-digital syndrome 1 protein

Gene

OFD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000046651-MONOMER.
ReactomeiR-HSA-2565942. Regulation of PLK1 Activity at G2/M Transition.
R-HSA-380259. Loss of Nlp from mitotic centrosomes.
R-HSA-380270. Recruitment of mitotic centrosome proteins and complexes.
R-HSA-5610787. Hedgehog 'off' state.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.
R-HSA-8854518. AURKA Activation by TPX2.

Names & Taxonomyi

Protein namesi
Recommended name:
Oral-facial-digital syndrome 1 protein
Alternative name(s):
Protein 71-7A
Gene namesi
Name:OFD1
Synonyms:CXorf5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:2567. OFD1.

Subcellular locationi

GO - Cellular componenti

  • centriolar satellite Source: UniProtKB
  • centriole Source: UniProtKB
  • centrosome Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • cilium Source: UniProtKB
  • cytosol Source: Reactome
  • membrane Source: UniProtKB
  • microtubule cytoskeleton Source: HPA
  • nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Orofaciodigital syndrome 1 (OFD1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome, lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting, cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the corpus callosum, cerebellar agenesis, or a Dandy-Walker malformation. Patients with OFD1 can develop fibrocystic disease of the liver and pancreas, in addition to polycystic kidneys.
See also OMIM:311200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01557474S → F in OFD1. 1 PublicationCorresponds to variant rs312262812dbSNPEnsembl.1
Natural variantiVAR_03078979A → T in OFD1. 1 PublicationCorresponds to variant rs312262814dbSNPEnsembl.1
Natural variantiVAR_058758138G → S in OFD1. 1 PublicationCorresponds to variant rs312262827dbSNPEnsembl.1
Natural variantiVAR_069100141M → R in OFD1. 1 Publication1
Natural variantiVAR_013753358 – 360KDD → FSY in OFD1. 3
Natural variantiVAR_013754435S → R in OFD1. 1 PublicationCorresponds to variant rs122460150dbSNPEnsembl.1
Simpson-Golabi-Behmel syndrome 2 (SGBS2)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe variant of Simpson-Golabi-Behmel syndrome, a condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations.
See also OMIM:300209
Joubert syndrome 10 (JBTS10)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
See also OMIM:300804
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075701307V → D in JBTS10; unknown pathological significance. 1 Publication1
Retinitis pigmentosa 23 (RP23)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:300424

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Retinitis pigmentosa

Organism-specific databases

DisGeNETi8481.
MalaCardsiOFD1.
MIMi300209. phenotype.
300424. phenotype.
300804. phenotype.
311200. phenotype.
OpenTargetsiENSG00000046651.
Orphaneti2754. Joubert syndrome with orofaciodigital defect.
2750. Orofaciodigital syndrome type 1.
244. Primary ciliary dyskinesia.
791. Retinitis pigmentosa.
79022. Simpson-Golabi-Behmel syndrome type 2.
PharmGKBiPA31909.

Polymorphism and mutation databases

BioMutaiOFD1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000580291 – 1012Oral-facial-digital syndrome 1 proteinAdd BLAST1012

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei663PhosphoserineCombined sources1
Modified residuei669PhosphoserineCombined sources1
Modified residuei686PhosphoserineCombined sources1
Modified residuei720PhosphoserineCombined sources1
Modified residuei745PhosphoserineCombined sources1
Modified residuei774PhosphoserineCombined sources1
Modified residuei789PhosphoserineCombined sources1
Modified residuei811PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO75665.
MaxQBiO75665.
PaxDbiO75665.
PeptideAtlasiO75665.
PRIDEiO75665.

PTM databases

iPTMnetiO75665.
PhosphoSitePlusiO75665.
SwissPalmiO75665.

Expressioni

Tissue specificityi

Widely expressed. Expressed in 9 and 14 weeks old embryos in metanephric mesenchyme, oral mucosa, lung, heart, nasal and cranial cartilage, and brain. Expressed in metanephros, brain, tongue, and limb.1 Publication

Gene expression databases

BgeeiENSG00000046651.
CleanExiHS_OFD1.
ExpressionAtlasiO75665. baseline and differential.
GenevisibleiO75665. HS.

Organism-specific databases

HPAiHPA031102.
HPA031103.
HPA031104.

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 C2CD3.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-716327,EBI-716327
NME7Q9Y5B83EBI-716327,EBI-744782
PLK1P533504EBI-716327,EBI-476768
RUVBL1Q9Y2653EBI-716327,EBI-353675

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114055. 275 interactors.
DIPiDIP-60601N.
IntActiO75665. 263 interactors.
MINTiMINT-1369849.
STRINGi9606.ENSP00000344314.

Structurei

3D structure databases

ProteinModelPortaliO75665.
SMRiO75665.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini70 – 102LisHPROSITE-ProRule annotationAdd BLAST33

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni609 – 665Mediates homooligomerizationAdd BLAST57
Regioni615 – 1012Mediates the interaction with SDCCAG81 PublicationAdd BLAST398

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili189 – 557Sequence analysisAdd BLAST369
Coiled coili622 – 662Sequence analysisAdd BLAST41
Coiled coili867 – 956Sequence analysisAdd BLAST90

Sequence similaritiesi

Belongs to the OFD1 family.Curated
Contains 1 LisH domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJF2. Eukaryota.
ENOG41112K2. LUCA.
GeneTreeiENSGT00390000001798.
HOGENOMiHOG000231349.
HOVERGENiHBG080238.
InParanoidiO75665.
KOiK16480.
OMAiHPAGDMP.
OrthoDBiEOG091G01ST.
PhylomeDBiO75665.
TreeFamiTF331230.

Family and domain databases

InterProiIPR006594. LisH.
[Graphical view]
PfamiPF16045. LisH_2. 1 hit.
[Graphical view]
SMARTiSM00667. LisH. 1 hit.
[Graphical view]
PROSITEiPS50896. LISH. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75665-1) [UniParc]FASTAAdd to basket
Also known as: ODF1a

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MMAQSNMFTV ADVLSQDELR KKLYQTFKDR GILDTLKTQL RNQLIHELMH
60 70 80 90 100
PVLSGELQPR SISVEGSSLL IGASNSLVAD HLQRCGYEYS LSVFFPESGL
110 120 130 140 150
AKEKVFTMQD LLQLIKINPT SSLYKSLVSG SDKENQKGFL MHFLKELAEY
160 170 180 190 200
HQAKESCNME TQTSSTFNRD SLAEKLQLID DQFADAYPQR IKFESLEIKL
210 220 230 240 250
NEYKREIEEQ LRAEMCQKLK FFKDTEIAKI KMEAKKKYEK ELTMFQNDFE
260 270 280 290 300
KACQAKSEAL VLREKSTLER IHKHQEIETK EIYAQRQLLL KDMDLLRGRE
310 320 330 340 350
AELKQRVEAF ELNQKLQEEK HKSITEALRR QEQNIKSFEE TYDRKLKNEL
360 370 380 390 400
LKYQLELKDD YIIRTNRLIE DERKNKEKAV HLQEELIAIN SKKEELNQSV
410 420 430 440 450
NRVKELELEL ESVKAQSLAI TKQNHMLNEK VKEMSDYSLL KEEKLELLAQ
460 470 480 490 500
NKLLKQQLEE SRNENLRLLN RLAQPAPELA VFQKELRKAE KAIVVEHEEF
510 520 530 540 550
ESCRQALHKQ LQDEIEHSAQ LKAQILGYKA SVKSLTTQVA DLKLQLKQTQ
560 570 580 590 600
TALENEVYCN PKQSVIDRSV NGLINGNVVP CNGEISGDFL NNPFKQENVL
610 620 630 640 650
ARMVASRITN YPTAWVEGSS PDSDLEFVAN TKARVKELQQ EAERLEKAFR
660 670 680 690 700
SYHRRVIKNS AKSPLAAKSP PSLHLLEAFK NITSSSPERH IFGEDRVVSE
710 720 730 740 750
QPQVGTLEER NDVVEALTGS AASRLRGGTS SRRLSSTPLP KAKRSLESEM
760 770 780 790 800
YLEGLGRSHI ASPSPCPDRM PLPSPTESRH SLSIPPVSSP PEQKVGLYRR
810 820 830 840 850
QTELQDKSEF SDVDKLAFKD NEEFESSFES AGNMPRQLEM GGLSPAGDMS
860 870 880 890 900
HVDAAAAAVP LSYQHPSVDQ KQIEEQKEEE KIREQQVKER RQREERRQSN
910 920 930 940 950
LQEVLERERR ELEKLYQERK MIEESLKIKI KKELEMENEL EMSNQEIKDK
960 970 980 990 1000
SAHSENPLEK YMKIIQQEQD QESADKSSKK MVQEGSLVDT LQSSDKVESL
1010
TGFSHEELDD SW
Length:1,012
Mass (Da):116,671
Last modified:November 1, 1998 - v1
Checksum:iC2BF4376F89E6738
GO
Isoform 2 (identifier: O75665-2) [UniParc]FASTAAdd to basket
Also known as: ODF1b

The sequence of this isoform differs from the canonical sequence as follows:
     352-367: KYQLELKDDYIIRTNR → NFHRLHGVCLALGILI
     368-1012: Missing.

Show »
Length:367
Mass (Da):42,925
Checksum:iF68CBB8EF28B5D2D
GO
Isoform 3 (identifier: O75665-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     313-352: Missing.

Note: No experimental confirmation available.
Show »
Length:972
Mass (Da):111,745
Checksum:iA5D2A7ECACB02E21
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01557474S → F in OFD1. 1 PublicationCorresponds to variant rs312262812dbSNPEnsembl.1
Natural variantiVAR_03078979A → T in OFD1. 1 PublicationCorresponds to variant rs312262814dbSNPEnsembl.1
Natural variantiVAR_058758138G → S in OFD1. 1 PublicationCorresponds to variant rs312262827dbSNPEnsembl.1
Natural variantiVAR_069100141M → R in OFD1. 1 Publication1
Natural variantiVAR_075701307V → D in JBTS10; unknown pathological significance. 1 Publication1
Natural variantiVAR_013753358 – 360KDD → FSY in OFD1. 3
Natural variantiVAR_013754435S → R in OFD1. 1 PublicationCorresponds to variant rs122460150dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_023334313 – 352Missing in isoform 3. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_004177352 – 367KYQLE…IRTNR → NFHRLHGVCLALGILI in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_004178368 – 1012Missing in isoform 2. 1 PublicationAdd BLAST645

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y15164 mRNA. Translation: CAA75436.1.
Y16355 mRNA. Translation: CAA76185.1.
AC003037 Genomic DNA. No translation available.
BC096344 mRNA. Translation: AAH96344.1.
CCDSiCCDS14157.1. [O75665-1]
CCDS83454.1. [O75665-3]
RefSeqiNP_001317138.1. NM_001330209.1.
NP_003602.1. NM_003611.2. [O75665-1]
UniGeneiHs.6483.

Genome annotation databases

EnsembliENST00000340096; ENSP00000344314; ENSG00000046651. [O75665-1]
ENST00000380550; ENSP00000369923; ENSG00000046651. [O75665-3]
GeneIDi8481.
KEGGihsa:8481.
UCSCiuc004cvp.5. human. [O75665-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Oral-facial-digital syndrome 1 (OFD1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y15164 mRNA. Translation: CAA75436.1.
Y16355 mRNA. Translation: CAA76185.1.
AC003037 Genomic DNA. No translation available.
BC096344 mRNA. Translation: AAH96344.1.
CCDSiCCDS14157.1. [O75665-1]
CCDS83454.1. [O75665-3]
RefSeqiNP_001317138.1. NM_001330209.1.
NP_003602.1. NM_003611.2. [O75665-1]
UniGeneiHs.6483.

3D structure databases

ProteinModelPortaliO75665.
SMRiO75665.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114055. 275 interactors.
DIPiDIP-60601N.
IntActiO75665. 263 interactors.
MINTiMINT-1369849.
STRINGi9606.ENSP00000344314.

PTM databases

iPTMnetiO75665.
PhosphoSitePlusiO75665.
SwissPalmiO75665.

Polymorphism and mutation databases

BioMutaiOFD1.

Proteomic databases

EPDiO75665.
MaxQBiO75665.
PaxDbiO75665.
PeptideAtlasiO75665.
PRIDEiO75665.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340096; ENSP00000344314; ENSG00000046651. [O75665-1]
ENST00000380550; ENSP00000369923; ENSG00000046651. [O75665-3]
GeneIDi8481.
KEGGihsa:8481.
UCSCiuc004cvp.5. human. [O75665-1]

Organism-specific databases

CTDi8481.
DisGeNETi8481.
GeneCardsiOFD1.
GeneReviewsiOFD1.
HGNCiHGNC:2567. OFD1.
HPAiHPA031102.
HPA031103.
HPA031104.
MalaCardsiOFD1.
MIMi300170. gene.
300209. phenotype.
300424. phenotype.
300804. phenotype.
311200. phenotype.
neXtProtiNX_O75665.
OpenTargetsiENSG00000046651.
Orphaneti2754. Joubert syndrome with orofaciodigital defect.
2750. Orofaciodigital syndrome type 1.
244. Primary ciliary dyskinesia.
791. Retinitis pigmentosa.
79022. Simpson-Golabi-Behmel syndrome type 2.
PharmGKBiPA31909.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJF2. Eukaryota.
ENOG41112K2. LUCA.
GeneTreeiENSGT00390000001798.
HOGENOMiHOG000231349.
HOVERGENiHBG080238.
InParanoidiO75665.
KOiK16480.
OMAiHPAGDMP.
OrthoDBiEOG091G01ST.
PhylomeDBiO75665.
TreeFamiTF331230.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000046651-MONOMER.
ReactomeiR-HSA-2565942. Regulation of PLK1 Activity at G2/M Transition.
R-HSA-380259. Loss of Nlp from mitotic centrosomes.
R-HSA-380270. Recruitment of mitotic centrosome proteins and complexes.
R-HSA-5610787. Hedgehog 'off' state.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.
R-HSA-8854518. AURKA Activation by TPX2.

Miscellaneous databases

ChiTaRSiOFD1. human.
GeneWikiiOFD1.
GenomeRNAii8481.
PROiO75665.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000046651.
CleanExiHS_OFD1.
ExpressionAtlasiO75665. baseline and differential.
GenevisibleiO75665. HS.

Family and domain databases

InterProiIPR006594. LisH.
[Graphical view]
PfamiPF16045. LisH_2. 1 hit.
[Graphical view]
SMARTiSM00667. LisH. 1 hit.
[Graphical view]
PROSITEiPS50896. LISH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiOFD1_HUMAN
AccessioniPrimary (citable) accession number: O75665
Secondary accession number(s): B9ZVU5, O75666, Q4VAK4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: November 1, 1998
Last modified: November 30, 2016
This is version 154 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.