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Protein

Oral-facial-digital syndrome 1 protein

Gene

OFD1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

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

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-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

SIGNOR Signaling Network Open Resource

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SIGNORi
O75665

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Oral-facial-digital syndrome 1 protein
Alternative name(s):
Protein 71-7A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:OFD1
Synonyms:CXorf5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000046651.14

Human Gene Nomenclature Database

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HGNCi
HGNC:2567 OFD1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300170 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O75665

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

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DisGeNETi
8481

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
OFD1

MalaCards human disease database

More...
MalaCardsi
OFD1
MIMi300209 phenotype
300424 phenotype
300804 phenotype
311200 phenotype

Open Targets

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OpenTargetsi
ENSG00000046651

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2750 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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31909

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
OFD1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000580291 – 1012Oral-facial-digital syndrome 1 proteinAdd BLAST1012

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

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EPDi
O75665

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O75665

MaxQB - The MaxQuant DataBase

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MaxQBi
O75665

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O75665

PeptideAtlas

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PeptideAtlasi
O75665

PRoteomics IDEntifications database

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PRIDEi
O75665

ProteomicsDB human proteome resource

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ProteomicsDBi
50145
50146 [O75665-2]
50147 [O75665-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O75665

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O75665

SwissPalm database of S-palmitoylation events

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SwissPalmi
O75665

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000046651 Expressed in 228 organ(s), highest expression level in thoracic mammary gland

CleanEx database of gene expression profiles

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CleanExi
HS_OFD1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O75665 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O75665 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA031102
HPA031103
HPA031104

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114055, 289 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O75665

Database of interacting proteins

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DIPi
DIP-60601N

Protein interaction database and analysis system

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IntActi
O75665, 265 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000344314

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O75665

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O75665

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini70 – 102LisHPROSITE-ProRule annotationAdd BLAST33

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni609 – 665Mediates homooligomerizationAdd BLAST57
Regioni615 – 1012Mediates the interaction with SDCCAG81 PublicationAdd BLAST398

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili189 – 557Sequence analysisAdd BLAST369
Coiled coili622 – 662Sequence analysisAdd BLAST41
Coiled coili867 – 956Sequence analysisAdd BLAST90

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the OFD1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IJF2 Eukaryota
ENOG41112K2 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000001798

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231349

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG080238

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O75665

KEGG Orthology (KO)

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KOi
K16480

Identification of Orthologs from Complete Genome Data

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OMAi
ESEMYLE

Database of Orthologous Groups

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OrthoDBi
294646at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O75665

TreeFam database of animal gene trees

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TreeFami
TF331230

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006594 LisH

Pfam protein domain database

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Pfami
View protein in Pfam
PF16045 LisH_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00667 LisH, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50896 LISH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.
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Length:972
Mass (Da):111,745
Checksum:iA5D2A7ECACB02E21
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MS89A0A0A0MS89_HUMAN
Oral-facial-digital syndrome 1 prot...
OFD1
338Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
Y15164 mRNA Translation: CAA75436.1
Y16355 mRNA Translation: CAA76185.1
AC003037 Genomic DNA No translation available.
BC096344 mRNA Translation: AAH96344.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14157.1 [O75665-1]
CCDS83454.1 [O75665-3]

NCBI Reference Sequences

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RefSeqi
NP_001317138.1, NM_001330209.1 [O75665-3]
NP_003602.1, NM_003611.2 [O75665-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.6483

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000340096; ENSP00000344314; ENSG00000046651 [O75665-1]
ENST00000380550; ENSP00000369923; ENSG00000046651 [O75665-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
8481

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8481

UCSC genome browser

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UCSCi
uc004cvp.5 human [O75665-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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, 289 interactors
CORUMiO75665
DIPiDIP-60601N
IntActiO75665, 265 interactors
STRINGi9606.ENSP00000344314

PTM databases

iPTMnetiO75665
PhosphoSitePlusiO75665
SwissPalmiO75665

Polymorphism and mutation databases

BioMutaiOFD1

Proteomic databases

EPDiO75665
jPOSTiO75665
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

Comparative Toxicogenomics Database

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CTDi
8481
DisGeNETi8481
EuPathDBiHostDB:ENSG00000046651.14

GeneCards: human genes, protein and diseases

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GeneCardsi
OFD1
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

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IJF2 Eukaryota
ENOG41112K2 LUCA
GeneTreeiENSGT00390000001798
HOGENOMiHOG000231349
HOVERGENiHBG080238
InParanoidiO75665
KOiK16480
OMAiESEMYLE
OrthoDBi294646at2759
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
OFD1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
OFD1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
8481

Protein Ontology

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PROi
PR:O75665

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiOFD1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75665
Secondary accession number(s): B9ZVU5, O75666, Q4VAK4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: November 1, 1998
Last modified: January 16, 2019
This is version 172 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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