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Entry version 186 (16 Oct 2019)
Sequence version 3 (10 Aug 2010)
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Protein

Treacle protein

Gene

TCOF1

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

Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).2 Publications

<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

GO - Biological processi

<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:
Treacle protein
Alternative name(s):
Treacher Collins syndrome 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:TCOF1
<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 5

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11654 TCOF1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606847 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q13428

<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 & Seán O’Donoghue; Source: COMPARTMENTS

<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 - Cellular componenti

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

Treacher Collins syndrome 1 (TCS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.
Related information in OMIM
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_00563053W → R in TCS1. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6949

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

More...
GeneReviewsi
TCOF1

MalaCards human disease database

More...
MalaCardsi
TCOF1
MIMi154500 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000070814

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

More...
Orphaneti
861 Treacher-Collins syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36405

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q13428

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TCOF1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
302393806

<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_00000724591 – 1488Treacle proteinAdd BLAST1488

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 residuei83PhosphoserineCombined sources1
Modified residuei84PhosphothreonineCombined sources1
Modified residuei85PhosphoserineCombined sources1
Modified residuei87PhosphoserineCombined sources1
Modified residuei88PhosphoserineCombined sources1
Modified residuei102PhosphothreonineBy similarity1
Modified residuei107PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki126Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei134N6-acetyllysineBy similarity1
Modified residuei153PhosphoserineCombined sources1
Modified residuei155N6-acetyllysineCombined sources1
Modified residuei156PhosphoserineCombined sources1
Modified residuei171PhosphoserineCombined sources1
Modified residuei173PhosphothreonineBy similarity1
Modified residuei233PhosphoserineCombined sources1
Modified residuei249PhosphothreonineCombined sources1
Modified residuei296N6-acetyllysineCombined sources1
Modified residuei310PhosphothreonineCombined sources1
Modified residuei313N6-acetyllysineBy similarity1
Modified residuei316PhosphothreonineCombined sources1
Modified residuei322N6-acetyllysineBy similarity1
Modified residuei381PhosphoserineCombined sources1
Modified residuei413PhosphoserineBy similarity1
Modified residuei414PhosphoserineBy similarity1
Modified residuei446PhosphoserineCombined sources1
Modified residuei484PhosphoserineCombined sources1
Modified residuei503PhosphoserineCombined sources1
Cross-linki507Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei533PhosphothreonineCombined sources1
Modified residuei581PhosphothreonineCombined sources1
Modified residuei583PhosphoserineCombined sources1
Modified residuei600N6-acetyllysine; alternateCombined sources1
Cross-linki600Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei620PhosphoserineCombined sources1
Cross-linki637Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei679PhosphoserineBy similarity1
Modified residuei716N6-acetyllysineBy similarity1
Modified residuei720N6-acetyllysineBy similarity1
Cross-linki725Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki732Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei755N6-acetyllysine; alternateCombined sources1
Cross-linki755Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki755Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei762PhosphoserineCombined sources1
Modified residuei764PhosphoserineCombined sources1
Modified residuei765PhosphoserineCombined sources1
Modified residuei769PhosphoserineCombined sources1
Modified residuei771PhosphoserineCombined sources1
Modified residuei777PhosphoserineCombined sources1
Modified residuei868PhosphoserineCombined sources1
Modified residuei870PhosphoserineCombined sources1
Modified residuei871PhosphoserineCombined sources1
Modified residuei875PhosphoserineCombined sources1
Modified residuei877PhosphoserineCombined sources1
Modified residuei906PhosphoserineCombined sources1
Modified residuei914PhosphothreonineCombined sources1
Modified residuei967PhosphoserineCombined sources1
Modified residuei974PhosphothreonineBy similarity1
Modified residuei983PhosphothreonineCombined sources1
Modified residuei998PhosphoserineCombined sources1
Modified residuei1111PhosphoserineCombined sources1
Modified residuei1175PhosphothreonineCombined sources1
Modified residuei1190PhosphoserineCombined sources1
Modified residuei1222PhosphothreonineBy similarity1
Cross-linki1224Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1228PhosphoserineCombined sources1
Modified residuei1234PhosphothreonineCombined sources1
Cross-linki1238Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1248Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1257PhosphoserineCombined sources1
Modified residuei1350PhosphoserineCombined sources1
Modified residuei1358PhosphothreonineCombined sources1
Modified residuei1376PhosphoserineCombined sources1
Modified residuei1378PhosphoserineCombined sources1
Modified residuei1407PhosphoserineCombined sources1
Modified residuei1410PhosphoserineCombined sources1
Modified residuei1414N6-acetyllysine; alternateCombined sources1
Cross-linki1414Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei1469PhosphoserineBy similarity1
Modified residuei1471PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated. Monoubiquitination by the BCR(KBTBD8) complex promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q13428

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q13428

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q13428

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q13428

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

More...
PaxDbi
Q13428

PeptideAtlas

More...
PeptideAtlasi
Q13428

PRoteomics IDEntifications database

More...
PRIDEi
Q13428

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
59417 [Q13428-1]
59418 [Q13428-2]
59419 [Q13428-3]
59420 [Q13428-4]
59421 [Q13428-5]
59422 [Q13428-6]
59423 [Q13428-7]
59424 [Q13428-8]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q13428-5 [Q13428-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q13428

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

More...
PhosphoSitePlusi
Q13428

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q13428

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q13428

<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

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Bgeei
ENSG00000070814 Expressed in 223 organ(s), highest expression level in frontal cortex

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q13428 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q13428 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB033199
HPA038237
HPA038238

<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

Heterodimer; heterodimerizes with NOLC1 following monoubiquitination (PubMed:26399832).

Part of a large pre-ribosomal ribonucleoprotein (RNP) complex, that consists of at least 62 ribosomal proteins, 45 nonribosomal proteins and both pre-rRNA and mature rRNA species. Within this complex directly interacts with NOP56 in an RNA-independent manner (PubMed:12777385).

2 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)

More...
BioGridi
112809, 126 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q13428

Database of interacting proteins

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DIPi
DIP-32953N

Protein interaction database and analysis system

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IntActi
Q13428, 45 interactors

Molecular INTeraction database

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MINTi
Q13428

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000367028

<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>Domaini6 – 38LisHPROSITE-ProRule annotationAdd BLAST33

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 biasi89 – 97Poly-Glu9
Compositional biasi204 – 207Poly-Ser4
Compositional biasi693 – 696Poly-Ser4
Compositional biasi996 – 1001Poly-Ser6
Compositional biasi1362 – 1366Poly-Lys5
Compositional biasi1452 – 1463Poly-LysAdd BLAST12
Compositional biasi1475 – 1482Poly-Lys8

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IF55 Eukaryota
ENOG411183W LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00730000111382

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13428

KEGG Orthology (KO)

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KOi
K14562

Identification of Orthologs from Complete Genome Data

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OMAi
DFPECDP

Database of Orthologous Groups

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OrthoDBi
614008at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q13428

TreeFam database of animal gene trees

More...
TreeFami
TF341730

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006594 LisH
IPR017859 Treacle
IPR003993 Treacle_dom

The PANTHER Classification System

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PANTHERi
PTHR20787 PTHR20787, 2 hits

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03546 Treacle, 4 hits

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

More...
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>. 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 (8+)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 8 <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 8 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13428-1) [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
MAEARKRREL LPLIYHHLLR AGYVRAAREV KEQSGQKCFL AQPVTLLDIY
60 70 80 90 100
THWQQTSELG RKRKAEEDAA LQAKKTRVSD PISTSESSEE EEEAEAETAK
110 120 130 140 150
ATPRLASTNS SVLGADLPSS MKEKAKAETE KAGKTGNSMP HPATGKTVAN
160 170 180 190 200
LLSGKSPRKS AEPSANTTLV SETEEEGSVP AFGAAAKPGM VSAGQADSSS
210 220 230 240 250
EDTSSSSDET DVEGKPSVKP AQVKASSVST KESPARKAAP APGKVGDVTP
260 270 280 290 300
QVKGGALPPA KRAKKPEEES ESSEEGSESE EEAPAGTRSQ VKASEKILQV
310 320 330 340 350
RAASAPAKGT PGKGATPAPP GKAGAVASQT KAGKPEEDSE SSSEESSDSE
360 370 380 390 400
EETPAAKALL QAKASGKTSQ VGAASAPAKE SPRKGAAPAP PGKTGPAVAK
410 420 430 440 450
AQAGKREEDS QSSSEESDSE EEAPAQAKPS GKAPQVRAAS APAKESPRKG
460 470 480 490 500
AAPAPPRKTG PAAAQVQVGK QEEDSRSSSE ESDSDREALA AMNAAQVKPL
510 520 530 540 550
GKSPQVKPAS TMGMGPLGKG AGPVPPGKVG PATPSAQVGK WEEDSESSSE
560 570 580 590 600
ESSDSSDGEV PTAVAPAQEK SLGNILQAKP TSSPAKGPPQ KAGPVAVQVK
610 620 630 640 650
AEKPMDNSES SEESSDSADS EEAPAAMTAA QAKPALKIPQ TKACPKKTNT
660 670 680 690 700
TASAKVAPVR VGTQAPRKAG TATSPAGSSP AVAGGTQRPA EDSSSSEESD
710 720 730 740 750
SEEEKTGLAV TVGQAKSVGK GLQVKAASVP VKGSLGQGTA PVLPGKTGPT
760 770 780 790 800
VTQVKAEKQE DSESSEEESD SEEAAASPAQ VKTSVKKTQA KANPAAARAP
810 820 830 840 850
SAKGTISAPG KVVTAAAQAK QRSPSKVKPP VRNPQNSTVL ARGPASVPSV
860 870 880 890 900
GKAVATAAQA QTGPEEDSGS SEEESDSEEE AETLAQVKPS GKTHQIRAAL
910 920 930 940 950
APAKESPRKG AAPTPPGKTG PSAAQAGKQD DSGSSSEESD SDGEAPAAVT
960 970 980 990 1000
SAQVIKPPLI FVDPNRSPAG PAATPAQAQA ASTPRKARAS ESTARSSSSE
1010 1020 1030 1040 1050
SEDEDVIPAT QCLTPGIRTN VVTMPTAHPR IAPKASMAGA SSSKESSRIS
1060 1070 1080 1090 1100
DGKKQEGPAT QVSKKNPASL PLTQAALKVL AQKASEAQPP VARTQPSSGV
1110 1120 1130 1140 1150
DSAVGTLPAT SPQSTSVQAK GTNKLRKPKL PEVQQATKAP ESSDDSEDSS
1160 1170 1180 1190 1200
DSSSGSEEDG EGPQGAKSAH TLGPTPSRTE TLVEETAAES SEDDVVAPSQ
1210 1220 1230 1240 1250
SLLSGYMTPG LTPANSQASK ATPKLDSSPS VSSTLAAKDD PDGKQEAKPQ
1260 1270 1280 1290 1300
QAAGMLSPKT GGKEAASGTT PQKSRKPKKG AGNPQASTLA LQSNITQCLL
1310 1320 1330 1340 1350
GQPWPLNEAQ VQASVVKVLT ELLEQERKKV VDTTKESSRK GWESRKRKLS
1360 1370 1380 1390 1400
GDQPAARTPR SKKKKKLGAG EGGEASVSPE KTSTTSKGKA KRDKASGDVK
1410 1420 1430 1440 1450
EKKGKGSLGS QGAKDEPEEE LQKGMGTVEG GDQSNPKSKK EKKKSDKRKK
1460 1470 1480
DKEKKEKKKK AKKASTKDSE SPSQKKKKKK KKTAEQTV
Note: Major.
Length:1,488
Mass (Da):152,106
Last modified:August 10, 2010 - v3
<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:i6348306D0479790B
GO
Isoform 2 (identifier: Q13428-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     214-290: Missing.

Show »
Length:1,411
Mass (Da):144,314
Checksum:i54E198A54B9062B2
GO
Isoform 3 (identifier: Q13428-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1172-1172: L → LV

Show »
Length:1,489
Mass (Da):152,205
Checksum:iE24970345707B2CC
GO
Isoform 4 (identifier: Q13428-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     953-953: Q → QDSNSKPARSKTLAPAPPERNTEGSSESSEEELPLTQ

Note: Minor.
Show »
Length:1,524
Mass (Da):155,929
Checksum:iB9CB0B8858C31E3F
GO
Isoform 5 (identifier: Q13428-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     954-958: VIKPP → DQESS
     959-1488: Missing.

Note: No experimental confirmation available.
Show »
Length:958
Mass (Da):96,757
Checksum:i1F041264A162451C
GO
Isoform 6 (identifier: Q13428-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1062-1099: Missing.

Show »
Length:1,450
Mass (Da):148,254
Checksum:i99FE142AD43AD2A5
GO
Isoform 7 (identifier: Q13428-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1062-1099: Missing.
     1172-1172: L → LV

Show »
Length:1,451
Mass (Da):148,353
Checksum:i0493C61010D7F167
GO
Isoform 8 (identifier: Q13428-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     214-290: Missing.
     1172-1172: L → LV

Note: No experimental confirmation available.
Show »
Length:1,412
Mass (Da):144,414
Checksum:i1B4ED99C9F485BD7
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ETY2E7ETY2_HUMAN
Treacle protein
TCOF1
1,488Annotation score:

Annotation score:2 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>
H0Y8Y7H0Y8Y7_HUMAN
Treacle protein
TCOF1
994Annotation 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>
H0YA99H0YA99_HUMAN
Treacle protein
TCOF1
188Annotation 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>
H0YAB7H0YAB7_HUMAN
Treacle protein
TCOF1
148Annotation 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>
A0A2R8Y857A0A2R8Y857_HUMAN
Treacle protein
TCOF1
297Annotation 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>
A0A2R8Y4M7A0A2R8Y4M7_HUMAN
Treacle protein
TCOF1
108Annotation 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>
A0A3B3IS06A0A3B3IS06_HUMAN
Treacle protein
TCOF1
1,358Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH16144 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

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 conflicti1271P → L in BAG64623 (PubMed:14702039).Curated1
Sequence conflicti1389K → Q in AAB40722 (PubMed:9074926).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00563053W → R in TCS1. 1 Publication1
Natural variantiVAR_057002221A → P. Corresponds to variant dbSNP:rs11541811Ensembl.1
Natural variantiVAR_005631516P → L1 PublicationCorresponds to variant dbSNP:rs138645438Ensembl.1
Natural variantiVAR_029869665A → P4 PublicationsCorresponds to variant dbSNP:rs2071240Ensembl.1
Natural variantiVAR_005632887V → A6 PublicationsCorresponds to variant dbSNP:rs7713638Ensembl.1
Natural variantiVAR_0356661030R → K in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1206146416Ensembl.1
Natural variantiVAR_0597291176P → R. Corresponds to variant dbSNP:rs1136103Ensembl.1
Natural variantiVAR_0597301280G → R. Corresponds to variant dbSNP:rs11541812Ensembl.1
Natural variantiVAR_0056331390A → V1 PublicationCorresponds to variant dbSNP:rs15251Ensembl.1
Natural variantiVAR_0617091431G → A. Corresponds to variant dbSNP:rs45491898Ensembl.1
Natural variantiVAR_0056341432D → G1 PublicationCorresponds to variant dbSNP:rs151344580Ensembl.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_022295214 – 290Missing in isoform 2 and isoform 8. 2 PublicationsAdd BLAST77
Alternative sequenceiVSP_022296953Q → QDSNSKPARSKTLAPAPPER NTEGSSESSEEELPLTQ in isoform 4. Curated1
Alternative sequenceiVSP_023133954 – 958VIKPP → DQESS in isoform 5. 1 Publication5
Alternative sequenceiVSP_023134959 – 1488Missing in isoform 5. 1 PublicationAdd BLAST530
Alternative sequenceiVSP_0403821062 – 1099Missing in isoform 6 and isoform 7. 2 PublicationsAdd BLAST38
Alternative sequenceiVSP_0222971172L → LV in isoform 3, isoform 7 and isoform 8. 2 Publications1

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
U40847 mRNA Translation: AAC50903.1
U76366 mRNA Translation: AAC51181.1
U84664
, U84640, U84641, U84642, U84643, U84644, U84645, U84646, U84647, U84648, U84649, U84650, U84651, U84652, U84653, U84654, U84655, U84656, U84657, U84658, U84659, U84660, U84661, U84662, U84663 Genomic DNA Translation: AAC51185.1
U79659
, U79645, U79646, U79647, U79648, U79649, U79650, U79651, U79652, U79653, U79654, U79655, U79656, U79657, U79658 Genomic DNA Translation: AAB40722.1
AY460334 mRNA Translation: AAR87774.1
AC011372 Genomic DNA No translation available.
BC011764 mRNA Translation: AAH11764.1
BC014559 mRNA Translation: AAH14559.1
BC016144 mRNA Translation: AAH16144.1 Sequence problems.
BC027252 mRNA Translation: AAH27252.1
BC033093 mRNA Translation: AAH33093.1
AK303611 mRNA Translation: BAG64623.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4306.1 [Q13428-2]
CCDS47305.1 [Q13428-7]
CCDS47306.1 [Q13428-8]
CCDS47307.1 [Q13428-5]
CCDS54936.1 [Q13428-1]

NCBI Reference Sequences

More...
RefSeqi
NP_000347.2, NM_000356.3 [Q13428-2]
NP_001008657.1, NM_001008657.2 [Q13428-5]
NP_001128715.1, NM_001135243.1 [Q13428-1]
NP_001128716.1, NM_001135244.1 [Q13428-7]
NP_001128717.1, NM_001135245.1 [Q13428-8]
NP_001182070.1, NM_001195141.1 [Q13428-6]
XP_005268562.1, XM_005268505.3 [Q13428-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000323668; ENSP00000325223; ENSG00000070814 [Q13428-2]
ENST00000377797; ENSP00000367028; ENSG00000070814 [Q13428-1]
ENST00000394269; ENSP00000377811; ENSG00000070814 [Q13428-5]
ENST00000427724; ENSP00000390717; ENSG00000070814 [Q13428-6]
ENST00000439160; ENSP00000406888; ENSG00000070814 [Q13428-7]
ENST00000445265; ENSP00000409944; ENSG00000070814 [Q13428-8]
ENST00000504761; ENSP00000421655; ENSG00000070814 [Q13428-1]
ENST00000643257; ENSP00000493815; ENSG00000070814 [Q13428-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6949

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6949

UCSC genome browser

More...
UCSCi
uc003lrw.4 human [Q13428-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
U40847 mRNA Translation: AAC50903.1
U76366 mRNA Translation: AAC51181.1
U84664
, U84640, U84641, U84642, U84643, U84644, U84645, U84646, U84647, U84648, U84649, U84650, U84651, U84652, U84653, U84654, U84655, U84656, U84657, U84658, U84659, U84660, U84661, U84662, U84663 Genomic DNA Translation: AAC51185.1
U79659
, U79645, U79646, U79647, U79648, U79649, U79650, U79651, U79652, U79653, U79654, U79655, U79656, U79657, U79658 Genomic DNA Translation: AAB40722.1
AY460334 mRNA Translation: AAR87774.1
AC011372 Genomic DNA No translation available.
BC011764 mRNA Translation: AAH11764.1
BC014559 mRNA Translation: AAH14559.1
BC016144 mRNA Translation: AAH16144.1 Sequence problems.
BC027252 mRNA Translation: AAH27252.1
BC033093 mRNA Translation: AAH33093.1
AK303611 mRNA Translation: BAG64623.1
CCDSiCCDS4306.1 [Q13428-2]
CCDS47305.1 [Q13428-7]
CCDS47306.1 [Q13428-8]
CCDS47307.1 [Q13428-5]
CCDS54936.1 [Q13428-1]
RefSeqiNP_000347.2, NM_000356.3 [Q13428-2]
NP_001008657.1, NM_001008657.2 [Q13428-5]
NP_001128715.1, NM_001135243.1 [Q13428-1]
NP_001128716.1, NM_001135244.1 [Q13428-7]
NP_001128717.1, NM_001135245.1 [Q13428-8]
NP_001182070.1, NM_001195141.1 [Q13428-6]
XP_005268562.1, XM_005268505.3 [Q13428-3]

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

BioGridi112809, 126 interactors
CORUMiQ13428
DIPiDIP-32953N
IntActiQ13428, 45 interactors
MINTiQ13428
STRINGi9606.ENSP00000367028

PTM databases

iPTMnetiQ13428
PhosphoSitePlusiQ13428
SwissPalmiQ13428

Polymorphism and mutation databases

BioMutaiTCOF1
DMDMi302393806

Proteomic databases

EPDiQ13428
jPOSTiQ13428
MassIVEiQ13428
MaxQBiQ13428
PaxDbiQ13428
PeptideAtlasiQ13428
PRIDEiQ13428
ProteomicsDBi59417 [Q13428-1]
59418 [Q13428-2]
59419 [Q13428-3]
59420 [Q13428-4]
59421 [Q13428-5]
59422 [Q13428-6]
59423 [Q13428-7]
59424 [Q13428-8]
TopDownProteomicsiQ13428-5 [Q13428-5]

Genome annotation databases

EnsembliENST00000323668; ENSP00000325223; ENSG00000070814 [Q13428-2]
ENST00000377797; ENSP00000367028; ENSG00000070814 [Q13428-1]
ENST00000394269; ENSP00000377811; ENSG00000070814 [Q13428-5]
ENST00000427724; ENSP00000390717; ENSG00000070814 [Q13428-6]
ENST00000439160; ENSP00000406888; ENSG00000070814 [Q13428-7]
ENST00000445265; ENSP00000409944; ENSG00000070814 [Q13428-8]
ENST00000504761; ENSP00000421655; ENSG00000070814 [Q13428-1]
ENST00000643257; ENSP00000493815; ENSG00000070814 [Q13428-3]
GeneIDi6949
KEGGihsa:6949
UCSCiuc003lrw.4 human [Q13428-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6949
DisGeNETi6949

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TCOF1
GeneReviewsiTCOF1
HGNCiHGNC:11654 TCOF1
HPAiCAB033199
HPA038237
HPA038238
MalaCardsiTCOF1
MIMi154500 phenotype
606847 gene
neXtProtiNX_Q13428
OpenTargetsiENSG00000070814
Orphaneti861 Treacher-Collins syndrome
PharmGKBiPA36405

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IF55 Eukaryota
ENOG411183W LUCA
GeneTreeiENSGT00730000111382
InParanoidiQ13428
KOiK14562
OMAiDFPECDP
OrthoDBi614008at2759
PhylomeDBiQ13428
TreeFamiTF341730

Miscellaneous databases

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

More...
ChiTaRSi
TCOF1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Treacle_protein

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

More...
GenomeRNAii
6949
PharosiQ13428
PMAP-CutDBiQ13428

Protein Ontology

More...
PROi
PR:Q13428

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000070814 Expressed in 223 organ(s), highest expression level in frontal cortex
ExpressionAtlasiQ13428 baseline and differential
GenevisibleiQ13428 HS

Family and domain databases

InterProiView protein in InterPro
IPR006594 LisH
IPR017859 Treacle
IPR003993 Treacle_dom
PANTHERiPTHR20787 PTHR20787, 2 hits
PfamiView protein in Pfam
PF03546 Treacle, 4 hits
SMARTiView protein in SMART
SM00667 LisH, 1 hit
PROSITEiView protein in PROSITE
PS50896 LISH, 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 nameiTCOF_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: Q13428
Secondary accession number(s): A0JLU0
, B4E111, Q6SC72, Q7Z5W9, Q96A52, Q99408, Q99860
<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: November 1, 1997
Last sequence update: August 10, 2010
Last modified: October 16, 2019
This is version 186 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

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