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Entry version 91 (02 Dec 2020)
Sequence version 1 (24 Jul 2007)
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Protein
Submitted name:

Oral-facial-digital syndrome 1 protein

Gene

OFD1

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation 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>
-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 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%5Fand%5Ftaxonomy%5Fsection">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
Submitted name:
Oral-facial-digital syndrome 1 proteinImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:OFD1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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)Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 and Host Database Resources

More...
EuPathDBi
HostDB:ENSG00000046651.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2567, OFD1

<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

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000046651

<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

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
A6NF31

PeptideAtlas

More...
PeptideAtlasi
A6NF31

PRoteomics IDEntifications database

More...
PRIDEi
A6NF31

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
1024

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000046651, Expressed in thoracic mammary gland and 238 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
A6NF31, baseline and differential

<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

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>Regioni579 – 604DisorderedSequence analysisAdd BLAST26
Regioni617 – 654DisorderedSequence analysisAdd BLAST38
Regioni684 – 764DisorderedSequence analysisAdd BLAST81
Regioni823 – 872DisorderedSequence analysisAdd BLAST50

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 coili53 – 73Sequence analysisAdd BLAST21
Coiled coili153 – 208Sequence analysisAdd BLAST56
Coiled coili239 – 283Sequence analysisAdd BLAST45
Coiled coili297 – 331Sequence analysisAdd BLAST35
Coiled coili392 – 412Sequence analysisAdd BLAST21
Coiled coili488 – 515Sequence analysisAdd BLAST28

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi583 – 602PolarSequence analysisAdd BLAST20
Compositional biasi730 – 764PolyampholyteSequence analysisAdd BLAST35
Compositional biasi825 – 839PolyampholyteSequence analysisAdd BLAST15
Compositional biasi843 – 859PolarSequence analysisAdd BLAST17

<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>Keywords - Domaini

Coiled coilSequence analysis

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000001798

<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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

A6NF31-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MHFLKELAEY HQAKESCNME TQTSSTFNRD SLAEKLQLID DQFADAYPQR
60 70 80 90 100
IKFESLEIKL NEYKREIEEQ LRAEMCQKLK FFKDTEIAKI KMEAKKKYEK
110 120 130 140 150
ELTMFQNDFE KACQAKSEAL VLREKSTLER IHKHQEIETK EIYAQRQLLL
160 170 180 190 200
KDMDLLRGRE AELKQRVEAF ELNQKLQEEK HKSITEALRR QEQNIKSFEE
210 220 230 240 250
TYDRKLKNEL LKYQLELKDD YIIRTNRLIE DERKNKEKAV HLQEELIAIN
260 270 280 290 300
SKKEELNQSV NRVKELELEL ESVKAQSLAI TKQNHMLNEK VKEMSDYSLL
310 320 330 340 350
KEEKLELLAQ NKLLKQQLEE SRNENLRLLN RLAQPAPELA VFQKELRKAE
360 370 380 390 400
KAIVVEHEEF ESCRQALHKQ LQDEIEHSAQ LKAQILGYKA SVKSLTTQVA
410 420 430 440 450
DLKLQLKQTQ TALENEVYCN PKQSVIDRSV NGLINGNVVP CNGEISGDFL
460 470 480 490 500
NNPFKQENVL ARMVASRITN YPTAWVEGSS PDSDLEFVAN TKARVKELQQ
510 520 530 540 550
EAERLEKAFR SYHRRVIKNS AKSPLAAKSP PSLHLLEAFK NITSSSPERH
560 570 580 590 600
IFGEDRVVSE QPQVGTLEER NDVVEALTGS AASRLRGGTS SRRLSSTPLP
610 620 630 640 650
KAKRSLESEM YLEGLGRSHI ASPSPCPDRM PLPSPTESRH SLSIPPVSSP
660 670 680 690 700
PEQKVGLYRR QTELQDKSEF SDVDKLAFKD NEEFESSFES AGNMPRQLEM
710 720 730 740 750
GGLSPAGDMS HVDAAAAAVP LSYQHPSVDQ KQIEEQKEEE KIREQQVKER
760 770 780 790 800
RQREERRQSN LQEVLERERR ELEKLYQERK MIEESLKIKI KKELEMENEL
810 820 830 840 850
EMSNQEIKDK SAHSENPLEK YMKIIQQEQD QESADKSSKK MVQEGSLVDT
860 870
LQSSDKVESL TGFSHEELDD SW
Length:872
Mass (Da):100,963
Last modified:July 24, 2007 - 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:i5280D11579F9A2DC
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
O75665OFD1_HUMAN
Oral-facial-digital syndrome 1 prot...
OFD1 CXorf5
1,012Annotation 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>
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>

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
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
AC003037 Genomic DNA No translation available.

NCBI Reference Sequences

More...
RefSeqi
NP_001317139.1, NM_001330210.1
XP_016885398.1, XM_017029909.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000380567; ENSP00000369941; ENSG00000046651

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
8481

UCSC genome browser

More...
UCSCi
uc064ybb.1, human

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC003037 Genomic DNA No translation available.
RefSeqiNP_001317139.1, NM_001330210.1
XP_016885398.1, XM_017029909.1

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Proteomic databases

MaxQBiA6NF31
PeptideAtlasiA6NF31
PRIDEiA6NF31
ProteomicsDBi1024

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
23854, 80 antibodies

Genome annotation databases

EnsembliENST00000380567; ENSP00000369941; ENSG00000046651
GeneIDi8481
UCSCiuc064ybb.1, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8481
EuPathDBiHostDB:ENSG00000046651.14
HGNCiHGNC:2567, OFD1
OpenTargetsiENSG00000046651

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00390000001798

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
8481, 4 hits in 473 CRISPR screens

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

More...
ChiTaRSi
OFD1, human

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

More...
GenomeRNAii
8481

Gene expression databases

BgeeiENSG00000046651, Expressed in thoracic mammary gland and 238 other tissues
ExpressionAtlasiA6NF31, baseline and differential

Family and domain databases

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiA6NF31_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: A6NF31
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/TrEMBL: July 24, 2007
Last sequence update: July 24, 2007
Last modified: December 2, 2020
This is version 91 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 statusiUnreviewed (UniProtKB/TrEMBL)
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

Proteomics identificationCombined sources, Reference proteomeImported
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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