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O75665

- OFD1_HUMAN

UniProt

O75665 - OFD1_HUMAN

Protein

Oral-facial-digital syndrome 1 protein

Gene

OFD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    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

    1. alpha-tubulin binding Source: UniProtKB
    2. gamma-tubulin binding Source: UniProtKB
    3. protein binding Source: UniProtKB

    GO - Biological processi

    1. cilium morphogenesis Source: UniProtKB
    2. epithelial cilium movement involved in determination of left/right asymmetry Source: UniProtKB
    3. G2/M transition of mitotic cell cycle Source: Reactome
    4. mitotic cell cycle Source: Reactome

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Enzyme and pathway databases

    ReactomeiREACT_15296. Recruitment of mitotic centrosome proteins and complexes.
    REACT_15364. Loss of Nlp from mitotic centrosomes.
    REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
    REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

    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
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:2567. OFD1.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. Cytoplasmcytoskeletoncilium basal body. Nucleus. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite
    Note: Localizes to centriole distal ends and to centriolar satellites.By similarity

    GO - Cellular componenti

    1. centriolar satellite Source: UniProtKB
    2. centriole Source: UniProtKB
    3. centrosome Source: UniProtKB
    4. ciliary basal body Source: UniProtKB
    5. cilium Source: UniProtKB
    6. cytosol Source: Reactome
    7. membrane Source: UniProtKB
    8. microtubule cytoskeleton Source: HPA
    9. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Orofaciodigital syndrome 1 (OFD1) [MIM:311200]: A 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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti74 – 741S → F in OFD1. 1 Publication
    VAR_015574
    Natural varianti79 – 791A → T in OFD1. 1 Publication
    VAR_030789
    Natural varianti138 – 1381G → S in OFD1. 1 Publication
    VAR_058758
    Natural varianti141 – 1411M → R in OFD1. 1 Publication
    VAR_069100
    Natural varianti358 – 3603KDD → FSY in OFD1.
    VAR_013753
    Natural varianti435 – 4351S → R in OFD1. 1 Publication
    VAR_013754
    Simpson-Golabi-Behmel syndrome 2 (SGBS2) [MIM:300209]: A 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.
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    Joubert syndrome 10 (JBTS10) [MIM:300804]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Retinitis pigmentosa 23 (RP23) [MIM:300424]: A 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.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Joubert syndrome, Retinitis pigmentosa

    Organism-specific databases

    MIMi300209. phenotype.
    300424. phenotype.
    300804. phenotype.
    311200. phenotype.
    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.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10121012Oral-facial-digital syndrome 1 proteinPRO_0000058029Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei663 – 6631Phosphoserine1 Publication
    Modified residuei669 – 6691Phosphoserine1 Publication
    Modified residuei686 – 6861Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO75665.
    PaxDbiO75665.
    PRIDEiO75665.

    PTM databases

    PhosphoSiteiO75665.

    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

    ArrayExpressiO75665.
    BgeeiO75665.
    CleanExiHS_OFD1.
    GenevestigatoriO75665.

    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
    PLK1P533502EBI-716327,EBI-476768

    Protein-protein interaction databases

    BioGridi114055. 19 interactions.
    DIPiDIP-60601N.
    IntActiO75665. 15 interactions.
    MINTiMINT-1369849.
    STRINGi9606.ENSP00000344314.

    Structurei

    3D structure databases

    ProteinModelPortaliO75665.
    SMRiO75665. Positions 72-119.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini70 – 10233LisHPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni609 – 66557Mediates homooligomerizationAdd
    BLAST
    Regioni615 – 1012398Mediates the interaction with SDCCAG8Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili189 – 557369Sequence AnalysisAdd
    BLAST
    Coiled coili622 – 66241Sequence AnalysisAdd
    BLAST
    Coiled coili867 – 95690Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG68802.
    HOGENOMiHOG000231349.
    HOVERGENiHBG080238.
    InParanoidiO75665.
    KOiK16480.
    OMAiHPAGDMP.
    OrthoDBiEOG7D59MR.
    PhylomeDBiO75665.
    TreeFamiTF331230.

    Family and domain databases

    InterProiIPR006594. LisH_dimerisation.
    [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. Align

    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

    MMAQSNMFTV ADVLSQDELR KKLYQTFKDR GILDTLKTQL RNQLIHELMH     50
    PVLSGELQPR SISVEGSSLL IGASNSLVAD HLQRCGYEYS LSVFFPESGL 100
    AKEKVFTMQD LLQLIKINPT SSLYKSLVSG SDKENQKGFL MHFLKELAEY 150
    HQAKESCNME TQTSSTFNRD SLAEKLQLID DQFADAYPQR IKFESLEIKL 200
    NEYKREIEEQ LRAEMCQKLK FFKDTEIAKI KMEAKKKYEK ELTMFQNDFE 250
    KACQAKSEAL VLREKSTLER IHKHQEIETK EIYAQRQLLL KDMDLLRGRE 300
    AELKQRVEAF ELNQKLQEEK HKSITEALRR QEQNIKSFEE TYDRKLKNEL 350
    LKYQLELKDD YIIRTNRLIE DERKNKEKAV HLQEELIAIN SKKEELNQSV 400
    NRVKELELEL ESVKAQSLAI TKQNHMLNEK VKEMSDYSLL KEEKLELLAQ 450
    NKLLKQQLEE SRNENLRLLN RLAQPAPELA VFQKELRKAE KAIVVEHEEF 500
    ESCRQALHKQ LQDEIEHSAQ LKAQILGYKA SVKSLTTQVA DLKLQLKQTQ 550
    TALENEVYCN PKQSVIDRSV NGLINGNVVP CNGEISGDFL NNPFKQENVL 600
    ARMVASRITN YPTAWVEGSS PDSDLEFVAN TKARVKELQQ EAERLEKAFR 650
    SYHRRVIKNS AKSPLAAKSP PSLHLLEAFK NITSSSPERH IFGEDRVVSE 700
    QPQVGTLEER NDVVEALTGS AASRLRGGTS SRRLSSTPLP KAKRSLESEM 750
    YLEGLGRSHI ASPSPCPDRM PLPSPTESRH SLSIPPVSSP PEQKVGLYRR 800
    QTELQDKSEF SDVDKLAFKD NEEFESSFES AGNMPRQLEM GGLSPAGDMS 850
    HVDAAAAAVP LSYQHPSVDQ KQIEEQKEEE KIREQQVKER RQREERRQSN 900
    LQEVLERERR ELEKLYQERK MIEESLKIKI KKELEMENEL EMSNQEIKDK 950
    SAHSENPLEK YMKIIQQEQD QESADKSSKK MVQEGSLVDT LQSSDKVESL 1000
    TGFSHEELDD SW 1012
    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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti74 – 741S → F in OFD1. 1 Publication
    VAR_015574
    Natural varianti79 – 791A → T in OFD1. 1 Publication
    VAR_030789
    Natural varianti138 – 1381G → S in OFD1. 1 Publication
    VAR_058758
    Natural varianti141 – 1411M → R in OFD1. 1 Publication
    VAR_069100
    Natural varianti358 – 3603KDD → FSY in OFD1.
    VAR_013753
    Natural varianti435 – 4351S → R in OFD1. 1 Publication
    VAR_013754

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei313 – 35240Missing in isoform 3. 1 PublicationVSP_023334Add
    BLAST
    Alternative sequencei352 – 36716KYQLE…IRTNR → NFHRLHGVCLALGILI in isoform 2. 1 PublicationVSP_004177Add
    BLAST
    Alternative sequencei368 – 1012645Missing in isoform 2. 1 PublicationVSP_004178Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    RefSeqiNP_003602.1. NM_003611.2. [O75665-1]
    XP_005274661.1. XM_005274604.1. [O75665-3]
    UniGeneiHs.6483.

    Genome annotation databases

    EnsembliENST00000340096; ENSP00000344314; ENSG00000046651. [O75665-1]
    ENST00000380550; ENSP00000369923; ENSG00000046651. [O75665-3]
    ENST00000398395; ENSP00000381432; ENSG00000046651. [O75665-2]
    GeneIDi8481.
    KEGGihsa:8481.
    UCSCiuc004cvp.4. human. [O75665-1]
    uc004cvu.4. human. [O75665-3]

    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:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y15164 mRNA. Translation: CAA75436.1 .
    Y16355 mRNA. Translation: CAA76185.1 .
    AC003037 Genomic DNA. No translation available.
    BC096344 mRNA. Translation: AAH96344.1 .
    CCDSi CCDS14157.1. [O75665-1 ]
    RefSeqi NP_003602.1. NM_003611.2. [O75665-1 ]
    XP_005274661.1. XM_005274604.1. [O75665-3 ]
    UniGenei Hs.6483.

    3D structure databases

    ProteinModelPortali O75665.
    SMRi O75665. Positions 72-119.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114055. 19 interactions.
    DIPi DIP-60601N.
    IntActi O75665. 15 interactions.
    MINTi MINT-1369849.
    STRINGi 9606.ENSP00000344314.

    PTM databases

    PhosphoSitei O75665.

    Proteomic databases

    MaxQBi O75665.
    PaxDbi O75665.
    PRIDEi O75665.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000340096 ; ENSP00000344314 ; ENSG00000046651 . [O75665-1 ]
    ENST00000380550 ; ENSP00000369923 ; ENSG00000046651 . [O75665-3 ]
    ENST00000398395 ; ENSP00000381432 ; ENSG00000046651 . [O75665-2 ]
    GeneIDi 8481.
    KEGGi hsa:8481.
    UCSCi uc004cvp.4. human. [O75665-1 ]
    uc004cvu.4. human. [O75665-3 ]

    Organism-specific databases

    CTDi 8481.
    GeneCardsi GC0XP013752.
    GeneReviewsi OFD1.
    HGNCi HGNC:2567. OFD1.
    HPAi HPA031102.
    HPA031103.
    HPA031104.
    MIMi 300170. gene.
    300209. phenotype.
    300424. phenotype.
    300804. phenotype.
    311200. phenotype.
    neXtProti NX_O75665.
    Orphaneti 2754. Joubert syndrome with orofaciodigital defect.
    2750. Orofaciodigital syndrome type 1.
    244. Primary ciliary dyskinesia.
    791. Retinitis pigmentosa.
    79022. Simpson-Golabi-Behmel syndrome type 2.
    PharmGKBi PA31909.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG68802.
    HOGENOMi HOG000231349.
    HOVERGENi HBG080238.
    InParanoidi O75665.
    KOi K16480.
    OMAi HPAGDMP.
    OrthoDBi EOG7D59MR.
    PhylomeDBi O75665.
    TreeFami TF331230.

    Enzyme and pathway databases

    Reactomei REACT_15296. Recruitment of mitotic centrosome proteins and complexes.
    REACT_15364. Loss of Nlp from mitotic centrosomes.
    REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
    REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

    Miscellaneous databases

    ChiTaRSi OFD1. human.
    GeneWikii OFD1.
    GenomeRNAii 8481.
    NextBioi 31735.
    PROi O75665.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75665.
    Bgeei O75665.
    CleanExi HS_OFD1.
    Genevestigatori O75665.

    Family and domain databases

    InterProi IPR006594. LisH_dimerisation.
    [Graphical view ]
    SMARTi SM00667. LisH. 1 hit.
    [Graphical view ]
    PROSITEi PS50896. LISH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains."
      de Conciliis L., Marchitiello A., Wapenaar M.C., Borsani G., Giglio S., Mariani M., Consalez G.G., Zuffardi O., Franco B., Ballabio A., Banfi S.
      Genomics 51:243-250(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    2. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    4. "OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells."
      Romio L., Wright V., Price K., Winyard P.J., Donnai D., Porteous M.E., Franco B., Giorgio G., Malcolm S., Woolf A.S., Feather S.A.
      J. Am. Soc. Nephrol. 14:680-689(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT OFD1 PHE-74.
    5. "Proteomic characterization of the human centrosome by protein correlation profiling."
      Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.
      Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Lymphoblast.
    6. "A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome."
      Budny B., Chen W., Omran H., Fliegauf M., Tzschach A., Wisniewska M., Jensen L.R., Raynaud M., Shoichet S.A., Badura M., Lenzner S., Latos-Bielenska A., Ropers H.-H.
      Hum. Genet. 120:171-178(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SIMPSON-GOLABI-BEHMEL SYNDROME.
    7. "Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex."
      Giorgio G., Alfieri M., Prattichizzo C., Zullo A., Cairo S., Franco B.
      Mol. Biol. Cell 18:4397-4404(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, HOMOOLIGOMERIZATION, INTERACTION WITH RUVBL1.
    8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-686, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: INVOLVEMENT IN JBTS10, INTERACTION WITH LCA5.
    10. "Ofd1, a human disease gene, regulates the length and distal structure of centrioles."
      Singla V., Romaguera-Ros M., Garcia-Verdugo J.M., Reiter J.F.
      Dev. Cell 18:410-424(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    11. "Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy."
      Otto E.A., Hurd T.W., Airik R., Chaki M., Zhou W., Stoetzel C., Patil S.B., Levy S., Ghosh A.K., Murga-Zamalloa C.A., van Reeuwijk J., Letteboer S.J., Sang L., Giles R.H., Liu Q., Coene K.L., Estrada-Cuzcano A., Collin R.W.
      , McLaughlin H.M., Held S., Kasanuki J.M., Ramaswami G., Conte J., Lopez I., Washburn J., Macdonald J., Hu J., Yamashita Y., Maher E.R., Guay-Woodford L.M., Neumann H.P., Obermuller N., Koenekoop R.K., Bergmann C., Bei X., Lewis R.A., Katsanis N., Lopes V., Williams D.S., Lyons R.H., Dang C.V., Brito D.A., Dias M.B., Zhang X., Cavalcoli J.D., Nurnberg G., Nurnberg P., Pierce E.A., Jackson P.K., Antignac C., Saunier S., Roepman R., Dollfus H., Khanna H., Hildebrandt F.
      Nat. Genet. 42:840-850(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SDCCAG8.
    12. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-663 AND SER-669, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. "Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)."
      Webb T.R., Parfitt D.A., Gardner J.C., Martinez A., Bevilacqua D., Davidson A.E., Zito I., Thiselton D.L., Ressa J.H., Apergi M., Schwarz N., Kanuga N., Michaelides M., Cheetham M.E., Gorin M.B., Hardcastle A.J.
      Hum. Mol. Genet. 21:3647-3654(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN RP23.
    14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    15. "A new cellular stress response that triggers centriolar satellite reorganization and ciliogenesis."
      Villumsen B.H., Danielsen J.R., Povlsen L., Sylvestersen K.B., Merdes A., Beli P., Yang Y.G., Choudhary C., Nielsen M.L., Mailand N., Bekker-Jensen S.
      EMBO J. 32:3029-3040(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    16. "Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites."
      Tang Z., Lin M.G., Stowe T.R., Chen S., Zhu M., Stearns T., Franco B., Zhong Q.
      Nature 502:254-257(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MAP1LC3B.
    17. Cited for: INTERACTION WITH C2CD3.
    18. Cited for: VARIANTS OFD1 358-PHE--TYR-360 AND ARG-435.
    19. "Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1."
      Rakkolainen A., Ala-Mello S., Kristo P., Orpana A., Jaervelae I.
      J. Med. Genet. 39:292-296(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OFD1 THR-79.
    20. "Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study."
      Thauvin-Robinet C., Cossee M., Cormier-Daire V., Van Maldergem L., Toutain A., Alembik Y., Bieth E., Layet V., Parent P., David A., Goldenberg A., Mortier G., Heron D., Sagot P., Bouvier A.M., Huet F., Cusin V., Donzel A.
      , Devys D., Teyssier J.R., Faivre L.
      J. Med. Genet. 43:54-61(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OFD1 SER-138.
    21. Cited for: VARIANT OFD1 ARG-141.

    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: October 1, 2014
    This is version 131 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

    External Data

    Dasty 3