O75665 (OFD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Oral-facial-digital syndrome 1 protein

Alternative name(s):
Protein 71-7A

Gene names

Name:	OFD1
Synonyms:	CXorf5

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1012 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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 By similarity.
Subunit structure	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. Ref.7 Ref.9 Ref.11
Subcellular location	Cytoplasm › cytoskeleton › centrosome › centriole. Cytoplasm › cytoskeleton › cilium basal body. Nucleus. Note: Localizes to centriole distal ends By similarity. Ref.4 Ref.5 Ref.7 Ref.10
Tissue specificity	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. Ref.4
Involvement in disease	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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Ref.13 Ref.14 Ref.15 Ref.16 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9
Sequence similarities	Belongs to the OFD1 family. Contains 1 LisH domain.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton Nucleus
Coding sequence diversity	Alternative splicing
Disease	Ciliopathy Disease mutation Joubert syndrome
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	G2/M transition of mitotic cell cycle Traceable author statement. Source: Reactome cilium axoneme assembly Inferred from electronic annotation. Source: Compara cilium morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB epithelial cilium movement involved in determination of left/right asymmetry Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	centriole Inferred from direct assay Ref.10. Source: UniProtKB cilium Inferred from direct assay Ref.10. Source: UniProtKB cytosol Traceable author statement. Source: Reactome microtubule basal body Inferred from direct assay Ref.10. Source: UniProtKB nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	alpha-tubulin binding Inferred from sequence or structural similarity. Source: UniProtKB gamma-tubulin binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
PLK1	P53350	2	EBI-716327,EBI-476768

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O75665-1)

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.

Isoform 2 (identifier: O75665-2)

Also known as: ODF1b;

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

Isoform 3 (identifier: O75665-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1012	1012	Oral-facial-digital syndrome 1 protein		PRO_0000058029
Regions
	Domain	70 – 102	33	LisH
	Region	609 – 665	57	Mediates homooligomerization
	Region	615 – 1012	398	Mediates the interaction with SDCCAG8
	Coiled coil	189 – 557	369	Potential
	Coiled coil	622 – 662	41	Potential
	Coiled coil	867 – 956	90	Potential
Amino acid modifications
	Modified residue	663	1	Phosphoserine Ref.12
	Modified residue	669	1	Phosphoserine Ref.12
	Modified residue	686	1	Phosphoserine Ref.8
Natural variations
	Alternative sequence	313 – 352	40	Missing in isoform 3.		VSP_023334
	Alternative sequence	352 – 367	16	KYQLE…IRTNR → NFHRLHGVCLALGILI in isoform 2.		VSP_004177
	Alternative sequence	368 – 1012	645	Missing in isoform 2.		VSP_004178
	Natural variant	74	1	S → F in OFD1. Ref.4		VAR_015574
	Natural variant	79	1	A → T in OFD1. Ref.14		VAR_030789
	Natural variant	138	1	G → S in OFD1. Ref.15		VAR_058758
	Natural variant	141	1	M → R in OFD1. Ref.16		VAR_069100
	Natural variant	358 – 360	3	KDD → FSY in OFD1.		VAR_013753
	Natural variant	435	1	S → R in OFD1. Ref.13		VAR_013754

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (ODF1a) [UniParc]. Last modified November 1, 1998. Version 1. Checksum: C2BF4376F89E6738	FASTA	1,012	116,671
	10 20 30 40 50 60 MMAQSNMFTV ADVLSQDELR KKLYQTFKDR GILDTLKTQL RNQLIHELMH PVLSGELQPR 70 80 90 100 110 120 SISVEGSSLL IGASNSLVAD HLQRCGYEYS LSVFFPESGL AKEKVFTMQD LLQLIKINPT 130 140 150 160 170 180 SSLYKSLVSG SDKENQKGFL MHFLKELAEY HQAKESCNME TQTSSTFNRD SLAEKLQLID 190 200 210 220 230 240 DQFADAYPQR IKFESLEIKL NEYKREIEEQ LRAEMCQKLK FFKDTEIAKI KMEAKKKYEK 250 260 270 280 290 300 ELTMFQNDFE KACQAKSEAL VLREKSTLER IHKHQEIETK EIYAQRQLLL KDMDLLRGRE 310 320 330 340 350 360 AELKQRVEAF ELNQKLQEEK HKSITEALRR QEQNIKSFEE TYDRKLKNEL LKYQLELKDD 370 380 390 400 410 420 YIIRTNRLIE DERKNKEKAV HLQEELIAIN SKKEELNQSV NRVKELELEL ESVKAQSLAI 430 440 450 460 470 480 TKQNHMLNEK VKEMSDYSLL KEEKLELLAQ NKLLKQQLEE SRNENLRLLN RLAQPAPELA 490 500 510 520 530 540 VFQKELRKAE KAIVVEHEEF ESCRQALHKQ LQDEIEHSAQ LKAQILGYKA SVKSLTTQVA 550 560 570 580 590 600 DLKLQLKQTQ TALENEVYCN PKQSVIDRSV NGLINGNVVP CNGEISGDFL NNPFKQENVL 610 620 630 640 650 660 ARMVASRITN YPTAWVEGSS PDSDLEFVAN TKARVKELQQ EAERLEKAFR SYHRRVIKNS 670 680 690 700 710 720 AKSPLAAKSP PSLHLLEAFK NITSSSPERH IFGEDRVVSE QPQVGTLEER NDVVEALTGS 730 740 750 760 770 780 AASRLRGGTS SRRLSSTPLP KAKRSLESEM YLEGLGRSHI ASPSPCPDRM PLPSPTESRH 790 800 810 820 830 840 SLSIPPVSSP PEQKVGLYRR QTELQDKSEF SDVDKLAFKD NEEFESSFES AGNMPRQLEM 850 860 870 880 890 900 GGLSPAGDMS HVDAAAAAVP LSYQHPSVDQ KQIEEQKEEE KIREQQVKER RQREERRQSN 910 920 930 940 950 960 LQEVLERERR ELEKLYQERK MIEESLKIKI KKELEMENEL EMSNQEIKDK SAHSENPLEK 970 980 990 1000 1010 YMKIIQQEQD QESADKSSKK MVQEGSLVDT LQSSDKVESL TGFSHEELDD SW
	Isoform 2 (ODF1b) [UniParc]. Checksum: F68CBB8EF28B5D2D	FASTA	367	42,925
	10 20 30 40 50 60 MMAQSNMFTV ADVLSQDELR KKLYQTFKDR GILDTLKTQL RNQLIHELMH PVLSGELQPR 70 80 90 100 110 120 SISVEGSSLL IGASNSLVAD HLQRCGYEYS LSVFFPESGL AKEKVFTMQD LLQLIKINPT 130 140 150 160 170 180 SSLYKSLVSG SDKENQKGFL MHFLKELAEY HQAKESCNME TQTSSTFNRD SLAEKLQLID 190 200 210 220 230 240 DQFADAYPQR IKFESLEIKL NEYKREIEEQ LRAEMCQKLK FFKDTEIAKI KMEAKKKYEK 250 260 270 280 290 300 ELTMFQNDFE KACQAKSEAL VLREKSTLER IHKHQEIETK EIYAQRQLLL KDMDLLRGRE 310 320 330 340 350 360 AELKQRVEAF ELNQKLQEEK HKSITEALRR QEQNIKSFEE TYDRKLKNEL LNFHRLHGVC LALGILI
	Isoform 3 [UniParc]. Checksum: A5D2A7ECACB02E21	FASTA	972	111,745
	10 20 30 40 50 60 MMAQSNMFTV ADVLSQDELR KKLYQTFKDR GILDTLKTQL RNQLIHELMH PVLSGELQPR 70 80 90 100 110 120 SISVEGSSLL IGASNSLVAD HLQRCGYEYS LSVFFPESGL AKEKVFTMQD LLQLIKINPT 130 140 150 160 170 180 SSLYKSLVSG SDKENQKGFL MHFLKELAEY HQAKESCNME TQTSSTFNRD SLAEKLQLID 190 200 210 220 230 240 DQFADAYPQR IKFESLEIKL NEYKREIEEQ LRAEMCQKLK FFKDTEIAKI KMEAKKKYEK 250 260 270 280 290 300 ELTMFQNDFE KACQAKSEAL VLREKSTLER IHKHQEIETK EIYAQRQLLL KDMDLLRGRE 310 320 330 340 350 360 AELKQRVEAF ELYQLELKDD YIIRTNRLIE DERKNKEKAV HLQEELIAIN SKKEELNQSV 370 380 390 400 410 420 NRVKELELEL ESVKAQSLAI TKQNHMLNEK VKEMSDYSLL KEEKLELLAQ NKLLKQQLEE 430 440 450 460 470 480 SRNENLRLLN RLAQPAPELA VFQKELRKAE KAIVVEHEEF ESCRQALHKQ LQDEIEHSAQ 490 500 510 520 530 540 LKAQILGYKA SVKSLTTQVA DLKLQLKQTQ TALENEVYCN PKQSVIDRSV NGLINGNVVP 550 560 570 580 590 600 CNGEISGDFL NNPFKQENVL ARMVASRITN YPTAWVEGSS PDSDLEFVAN TKARVKELQQ 610 620 630 640 650 660 EAERLEKAFR SYHRRVIKNS AKSPLAAKSP PSLHLLEAFK NITSSSPERH IFGEDRVVSE 670 680 690 700 710 720 QPQVGTLEER NDVVEALTGS AASRLRGGTS SRRLSSTPLP KAKRSLESEM YLEGLGRSHI 730 740 750 760 770 780 ASPSPCPDRM PLPSPTESRH SLSIPPVSSP PEQKVGLYRR QTELQDKSEF SDVDKLAFKD 790 800 810 820 830 840 NEEFESSFES AGNMPRQLEM GGLSPAGDMS HVDAAAAAVP LSYQHPSVDQ KQIEEQKEEE 850 860 870 880 890 900 KIREQQVKER RQREERRQSN LQEVLERERR ELEKLYQERK MIEESLKIKI KKELEMENEL 910 920 930 940 950 960 EMSNQEIKDK SAHSENPLEK YMKIIQQEQD QESADKSSKK MVQEGSLVDT LQSSDKVESL 970 TGFSHEELDD SW

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: MASS SPECTROMETRY, 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]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-686, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin." Coene K.L., Roepman R., Doherty D., Afroze B., Kroes H.Y., Letteboer S.J., Ngu L.H., Budny B., van Wijk E., Gorden N.T., Azhimi M., Thauvin-Robinet C., Veltman J.A., Boink M., Kleefstra T., Cremers F.P., van Bokhoven H., de Brouwer A.P. Am. J. Hum. Genet. 85:465-481(2009) [PubMed] [Europe PMC] [Abstract] 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, MASS SPECTROMETRY.
[13]	"Identification of the gene for oral-facial-digital type I syndrome." Ferrante M.I., Giorgio G., Feather S.A., Bulfone A., Wright V., Ghiani M., Selicorni A., Gammaro L., Scolari F., Woolf A.S., Sylvie O., Le Marec B., Malcolm S., Winter R., Ballabio A., Franco B. Am. J. Hum. Genet. 68:569-576(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS OFD1 358-PHE--TYR-360 AND ARG-435.
[14]	"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.
[15]	"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.
[16]	"Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: A study of the extensive clinical variability." Bisschoff I.J., Zeschnigk C., Horn D., Wellek B., Riess A., Wessels M., Willems P., Jensen P., Busche A., Bekkebraten J., Chopra M., Hove H.D., Evers C., Heimdal K., Kaiser A.S., Kunstmann E., Robinson K.L., Linne M. , Martin P., McGrath J., Pradel W., Prescott K.E., Roesler B., Rudolf G., Siebers-Renelt U., Tyshchenko N., Wieczorek D., Wolff G., Dobyns W.B., Morris-Rosendahl D.J. Hum. Mutat. 34:237-247(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT OFD1 ARG-141.
+	Additional computationally mapped references.

Web resources

GeneReviews

Oral-facial-digital syndrome 1 (OFD1)

Leiden Open Variation Database (LOVD)

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y15164 mRNA. Translation: CAA75436.1. Y16355 mRNA. Translation: CAA76185.1. AC003037 Genomic DNA. No translation available. BC096344 mRNA. Translation: AAH96344.1.
IPI	IPI00026580. IPI00221364. IPI00828042.
RefSeq	NP_003602.1. NM_003611.2.
UniGene	Hs.6483.
3D structure databases
ProteinModelPortal	O75665.
SMR	O75665. Positions 72-119.
ModBase	Search...
Protein-protein interaction databases
IntAct	O75665. 7 interactions.
MINT	MINT-1369849.
STRING	9606.ENSP00000344314.
PTM databases
PhosphoSite	O75665.
Proteomic databases
PaxDb	O75665.
PRIDE	O75665.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000340096; ENSP00000344314; ENSG00000046651. ENST00000380550; ENSP00000369923; ENSG00000046651. ENST00000398395; ENSP00000381432; ENSG00000046651.
GeneID	8481.
KEGG	hsa:8481.
UCSC	uc004cvp.4. human. uc004cvu.4. human.
Organism-specific databases
CTD	8481.
GeneCards	GC0XP013752.
HGNC	HGNC:2567. OFD1.
HPA	HPA031102. HPA031103. HPA031104.
MIM	300170. gene. 300209. phenotype. 300804. phenotype. 311200. phenotype.
neXtProt	NX_O75665.
Orphanet	2754. Joubert syndrome with orofaciodigital defect. 2750. Oral-facial-digital syndrome type 1. 244. Primary ciliary dyskinesia. 79022. Simpson-Golabi-Behmel syndrome type 2.
PharmGKB	PA31909.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG68802.
HOGENOM	HOG000231349.
HOVERGEN	HBG080238.
InParanoid	O75665.
KO	K16480.
OMA	HRRVIKN.
OrthoDB	EOG447FTK.
PhylomeDB	O75665.
Enzyme and pathway databases
Reactome	REACT_115566. Cell Cycle.
Gene expression databases
ArrayExpress	O75665.
Bgee	O75665.
CleanEx	HS_OFD1.
Genevestigator	O75665.
GermOnline	ENSG00000046651. Homo sapiens.
Family and domain databases
InterPro	IPR006594. LisH_dimerisation. [Graphical view]
SMART	SM00667. LisH. 1 hit. [Graphical view]
PROSITE	PS50896. LISH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	OFD1. human.
GenomeRNAi	8481.
NextBio	31735.
SOURCE	Search...

Entry information

Entry name

OFD1_HUMAN

Accession

Primary (citable) accession number: O75665
Secondary accession number(s): B9ZVU5, O75666, Q4VAK4

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 24, 2001
Last sequence update:	November 1, 1998
Last modified:	May 1, 2013
This is version 116 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.