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Protein

Oral-facial-digital syndrome 1 protein

Gene

OFD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • alpha-tubulin binding Source: UniProtKB
  • gamma-tubulin binding Source: UniProtKB
  • identical protein binding Source: IntAct

GO - Biological processi

Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

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-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
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
SIGNORiO75665

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

EuPathDBiHostDB:ENSG00000046651.14
HGNCiHGNC:2567 OFD1
MIMi300170 gene
neXtProtiNX_O75665

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs312262812EnsemblClinVar.1
Natural variantiVAR_03078979A → T in OFD1. 1 PublicationCorresponds to variant dbSNP:rs312262814EnsemblClinVar.1
Natural variantiVAR_058758138G → S in OFD1. 1 PublicationCorresponds to variant dbSNP:rs312262827EnsemblClinVar.1
Natural variantiVAR_069100141M → R in OFD1. 1 PublicationCorresponds to variant dbSNP:rs886039860EnsemblClinVar.1
Natural variantiVAR_013753358 – 360KDD → FSY in OFD1. 3
Natural variantiVAR_013754435S → R in OFD1. 1 PublicationCorresponds to variant dbSNP:rs122460150EnsemblClinVar.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
GeneReviewsiOFD1
MalaCardsiOFD1
MIMi300209 phenotype
300424 phenotype
300804 phenotype
311200 phenotype
OpenTargetsiENSG00000046651
Orphaneti2750 Orofaciodigital syndrome type 1
2754 Orofaciodigital syndrome type 6
244 Primary ciliary dyskinesia
791 Retinitis pigmentosa
83648 X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
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
ProteomicsDBi50145
50146 [O75665-2]
50147 [O75665-3]

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 Expressed in 228 organ(s), highest expression level in thoracic mammary gland
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. Forms a complex with KIAA0753/OFIP and FOPNL/FOR20; the interaction with FOPNL is detected only in the presence of KIAA0753. Interacts with PCM1; this interaction may be mediated by KIAA0753/OFIP (PubMed:26643951).6 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114055, 288 interactors
CORUMiO75665
DIPiDIP-60601N
IntActiO75665, 264 interactors
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

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR006594 LisH
PfamiView protein in Pfam
PF16045 LisH_2, 1 hit
SMARTiView protein in SMART
SM00667 LisH, 1 hit
PROSITEiView protein in PROSITE
PS50896 LISH, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6NF31A6NF31_HUMAN
Oral-facial-digital syndrome 1 prot...
OFD1
872Annotation score:
A0A0A0MS89A0A0A0MS89_HUMAN
Oral-facial-digital syndrome 1 prot...
OFD1
338Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01557474S → F in OFD1. 1 PublicationCorresponds to variant dbSNP:rs312262812EnsemblClinVar.1
Natural variantiVAR_03078979A → T in OFD1. 1 PublicationCorresponds to variant dbSNP:rs312262814EnsemblClinVar.1
Natural variantiVAR_058758138G → S in OFD1. 1 PublicationCorresponds to variant dbSNP:rs312262827EnsemblClinVar.1
Natural variantiVAR_069100141M → R in OFD1. 1 PublicationCorresponds to variant dbSNP:rs886039860EnsemblClinVar.1
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 dbSNP:rs122460150EnsemblClinVar.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 [O75665-3]
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

Similar proteinsi

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 [O75665-3]
NP_003602.1, NM_003611.2 [O75665-1]
UniGeneiHs.6483

3D structure databases

ProteinModelPortaliO75665
SMRiO75665
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114055, 288 interactors
CORUMiO75665
DIPiDIP-60601N
IntActiO75665, 264 interactors
STRINGi9606.ENSP00000344314

PTM databases

iPTMnetiO75665
PhosphoSitePlusiO75665
SwissPalmiO75665

Polymorphism and mutation databases

BioMutaiOFD1

Proteomic databases

EPDiO75665
MaxQBiO75665
PaxDbiO75665
PeptideAtlasiO75665
PRIDEiO75665
ProteomicsDBi50145
50146 [O75665-2]
50147 [O75665-3]

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
EuPathDBiHostDB:ENSG00000046651.14
GeneCardsiOFD1
GeneReviewsiOFD1
HGNCiHGNC:2567 OFD1
HPAiHPA031102
HPA031103
HPA031104
MalaCardsiOFD1
MIMi300170 gene
300209 phenotype
300424 phenotype
300804 phenotype
311200 phenotype
neXtProtiNX_O75665
OpenTargetsiENSG00000046651
Orphaneti2750 Orofaciodigital syndrome type 1
2754 Orofaciodigital syndrome type 6
244 Primary ciliary dyskinesia
791 Retinitis pigmentosa
83648 X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
PharmGKBiPA31909
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

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-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
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
SIGNORiO75665

Miscellaneous databases

ChiTaRSiOFD1 human
GeneWikiiOFD1
GenomeRNAii8481
PROiPR:O75665
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000046651 Expressed in 228 organ(s), highest expression level in thoracic mammary gland
CleanExiHS_OFD1
ExpressionAtlasiO75665 baseline and differential
GenevisibleiO75665 HS

Family and domain databases

InterProiView protein in InterPro
IPR006594 LisH
PfamiView protein in Pfam
PF16045 LisH_2, 1 hit
SMARTiView protein in SMART
SM00667 LisH, 1 hit
PROSITEiView protein in PROSITE
PS50896 LISH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiOFD1_HUMAN
AccessioniPrimary (citable) accession number: O75665
Secondary accession number(s): B9ZVU5, O75666, Q4VAK4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: November 1, 1998
Last modified: November 7, 2018
This is version 170 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
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