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O75665

- OFD1_HUMAN

UniProt

O75665 - OFD1_HUMAN

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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

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

GO - Biological processi

  1. axoneme assembly Source: Ensembl
  2. cilium morphogenesis Source: UniProtKB
  3. embryonic body morphogenesis Source: Ensembl
  4. epithelial cilium movement involved in determination of left/right asymmetry Source: UniProtKB
  5. G2/M transition of mitotic cell cycle Source: Reactome
  6. mitotic cell cycle Source: Reactome
  7. negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation Source: Ensembl
Complete GO annotation...

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-KW
Complete GO annotation...

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

BgeeiO75665.
CleanExiHS_OFD1.
ExpressionAtlasiO75665. baseline and differential.
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. 20 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.
GeneTreeiENSGT00390000001798.
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

        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)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]
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. 20 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 ]
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.
GeneTreei ENSGT00390000001798.
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

Bgeei O75665.
CleanExi HS_OFD1.
ExpressionAtlasi O75665. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 132 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