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Entry version 105 (13 Nov 2019)
Sequence version 1 (01 Mar 2003)
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Protein

Orofacial cleft 1 candidate gene 1 protein

Gene

OFCC1

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

Annotation score:4 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_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:
Orofacial cleft 1 candidate gene 1 protein
Alternative name(s):
Orofacial clefting chromosomal breakpoint region candidate 1 protein
<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:OFCC1
Synonyms:MRDS1
<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: Unplaced

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21017 OFCC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614287 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IZS5

<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

<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

A chromosomal aberration involving OFCC1 is found in patients with orofacial cleft.1 Publication

Organism-specific databases

DisGeNET

More...
DisGeNETi
266553

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IZS5

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
OFCC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74750797

<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_00003371381 – 231Orofacial cleft 1 candidate gene 1 proteinAdd BLAST231

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 residuei113Omega-N-methylarginine; by PRMT11 Publication1

<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 - PTMi

Methylation

Proteomic databases

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

More...
PaxDbi
Q8IZS5

PRoteomics IDEntifications database

More...
PRIDEi
Q8IZS5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
71414 [Q8IZS5-1]
71415 [Q8IZS5-2]
71416 [Q8IZS5-3]
71417 [Q8IZS5-4]
71418 [Q8IZS5-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IZS5

<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
ENSG00000181355 Expressed in 56 organ(s), highest expression level in buccal mucosa cell

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IZS5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA035725

<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%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

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
Q8IZS5, 12 interactors

Molecular INTeraction database

More...
MINTi
Q8IZS5

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000419718

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IYCS Eukaryota
ENOG4111BI4 LUCA

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8IZS5

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IZS5

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR031390 OFCC1

The PANTHER Classification System

More...
PANTHERi
PTHR33862 PTHR33862, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15680 OFCC1, 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>. 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>Sequences (5)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 5 <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
Isoform 1 (identifier: Q8IZS5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MEREKFQQKA LKQTKQKKSK SAEFLMVKED REATEGTGNP AFNMSSPDLS
60 70 80 90 100
ACQTAEKKVI RHDMPDRTLA AHQQKFRLPA SAEPKGNEYG RNYFDPLMDE
110 120 130 140 150
EINPRQCATE VSREDDDRIF YNRLTKLFDE SRQGEPQDES GREETLNSEA
160 170 180 190 200
PGSSNKSHEI HKEASEATTA HLEEFQRSQK TIILLGSSPL EQEIRSTSLH
210 220 230
CMEDEMSHPW ILLLKVTAVI RSRRYYREQR F
Length:231
Mass (Da):26,754
Last modified:March 1, 2003 - 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:iDC56B4924B0C13C6
GO
Isoform 2 (identifier: Q8IZS5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MWITSLITMKDEDIFDLAGDPQDSLIPGPSPTPKQNPVCNEAFFGHQTFSLRETGLKSVHCQGQEAENM
     115-137: Missing.

Show »
Length:276
Mass (Da):31,430
Checksum:iDBE6A2743A536E5B
GO
Isoform 3 (identifier: Q8IZS5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     115-231: DDDRIFYNRL...SRRYYREQRF → GSIPKKIGPC...EELEEHRFSV

Show »
Length:183
Mass (Da):20,887
Checksum:i0334CBBF25D11B6D
GO
Isoform 4 (identifier: Q8IZS5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     115-231: DDDRIFYNRL...SRRYYREQRF → AF

Show »
Length:116
Mass (Da):13,296
Checksum:i5F38D3879B026F86
GO
Isoform 5 (identifier: Q8IZS5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     115-231: DDDRIFYNRL...SRRYYREQRF → GFEIRRGRPQRIHSYVTFKDW

Show »
Length:135
Mass (Da):15,709
Checksum:i08ECE5878002CD7D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti178S → SP in AAN06680 (Ref. 1) Curated1

Natural variant

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_04362121S → L. Corresponds to variant dbSNP:rs9477310Ensembl.1
Natural variantiVAR_043622123R → Q. Corresponds to variant dbSNP:rs9383206Ensembl.1
Natural variantiVAR_043623145T → I. Corresponds to variant dbSNP:rs9477211Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0339371M → MWITSLITMKDEDIFDLAGD PQDSLIPGPSPTPKQNPVCN EAFFGHQTFSLRETGLKSVH CQGQEAENM in isoform 2. 1 Publication1
Alternative sequenceiVSP_033938115 – 231DDDRI…REQRF → GSIPKKIGPCSMDYDPNLLE EDDELHSQGDSLTDHSVKGK STVWRIGEAEDYSQDISYLE ELEEHRFSV in isoform 3. 1 PublicationAdd BLAST117
Alternative sequenceiVSP_033939115 – 231DDDRI…REQRF → AF in isoform 4. 1 PublicationAdd BLAST117
Alternative sequenceiVSP_033940115 – 231DDDRI…REQRF → GFEIRRGRPQRIHSYVTFKD W in isoform 5. 1 PublicationAdd BLAST117
Alternative sequenceiVSP_033941115 – 137Missing in isoform 2. 1 PublicationAdd BLAST23

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF520800 mRNA Translation: AAN06675.1
AF520803 mRNA Translation: AAN06678.1
AF520805 mRNA Translation: AAN06680.1
AF520806 mRNA Translation: AAN06681.1
AF520808 mRNA Translation: AAN06683.1
CH471087 Genomic DNA Translation: EAW55244.1
BC113541 mRNA Translation: AAI13542.1
BC113543 mRNA Translation: AAI13544.1
AF548113 mRNA Translation: AAN59915.1
AY309094 mRNA Translation: AAP74970.1

Genome annotation databases

UCSC genome browser

More...
UCSCi
uc063lsm.1 human [Q8IZS5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<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
AF520800 mRNA Translation: AAN06675.1
AF520803 mRNA Translation: AAN06678.1
AF520805 mRNA Translation: AAN06680.1
AF520806 mRNA Translation: AAN06681.1
AF520808 mRNA Translation: AAN06683.1
CH471087 Genomic DNA Translation: EAW55244.1
BC113541 mRNA Translation: AAI13542.1
BC113543 mRNA Translation: AAI13544.1
AF548113 mRNA Translation: AAN59915.1
AY309094 mRNA Translation: AAP74970.1

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...

Protein-protein interaction databases

IntActiQ8IZS5, 12 interactors
MINTiQ8IZS5
STRINGi9606.ENSP00000419718

PTM databases

iPTMnetiQ8IZS5

Polymorphism and mutation databases

BioMutaiOFCC1
DMDMi74750797

Proteomic databases

PaxDbiQ8IZS5
PRIDEiQ8IZS5
ProteomicsDBi71414 [Q8IZS5-1]
71415 [Q8IZS5-2]
71416 [Q8IZS5-3]
71417 [Q8IZS5-4]
71418 [Q8IZS5-5]

Genome annotation databases

UCSCiuc063lsm.1 human [Q8IZS5-1]

Organism-specific databases

DisGeNETi266553

GeneCards: human genes, protein and diseases

More...
GeneCardsi
OFCC1
HGNCiHGNC:21017 OFCC1
HPAiHPA035725
MIMi614287 gene
neXtProtiNX_Q8IZS5

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IYCS Eukaryota
ENOG4111BI4 LUCA
InParanoidiQ8IZS5
PhylomeDBiQ8IZS5

Miscellaneous databases

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

More...
ChiTaRSi
OFCC1 human
PharosiQ8IZS5

Protein Ontology

More...
PROi
PR:Q8IZS5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000181355 Expressed in 56 organ(s), highest expression level in buccal mucosa cell
GenevisibleiQ8IZS5 HS

Family and domain databases

InterProiView protein in InterPro
IPR031390 OFCC1
PANTHERiPTHR33862 PTHR33862, 1 hit
PfamiView protein in Pfam
PF15680 OFCC1, 1 hit

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 nameiOFCC1_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: Q8IZS5
Secondary accession number(s): Q7Z2X5
, Q8IUL6, Q8IUM1, Q8IZR9, Q8IZS1, Q8IZS3
<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: May 20, 2008
Last sequence update: March 1, 2003
Last modified: November 13, 2019
This is version 105 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. Human chromosome 6
    Human chromosome 6: 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
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