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Entry version 122 (18 Sep 2019)
Sequence version 2 (15 Jan 2008)
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Protein

CCR4-NOT transcription complex subunit 1

Gene

CNOT1

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

Scaffolding component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Its scaffolding function implies its interaction with the catalytic complex module and diverse RNA-binding proteins mediating the complex recruitment to selected mRNA 3'UTRs. Involved in degradation of AU-rich element (ARE)-containing mRNAs probably via association with ZFP36. Mediates the recruitment of the CCR4-NOT complex to miRNA targets and to the RISC complex via association with TNRC6A, TNRC6B or TNRC6C. Acts as a transcriptional repressor. Represses the ligand-dependent transcriptional activation by nuclear receptors. Involved in the maintenance of embryonic stem (ES) cell identity.8 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>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

Molecular functionDevelopmental protein, Repressor
Biological processRNA-mediated gene silencing, Transcription, Transcription regulation, Translation regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-429947 Deadenylation of mRNA
R-HSA-6804115 TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain

<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:
CCR4-NOT transcription complex subunit 1
Alternative name(s):
CCR4-associated factor 1
Negative regulator of transcription subunit 1 homolog
Short name:
NOT1H
Short name:
hNOT1
<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:CNOT1
Synonyms:CDC39, KIAA1007, NOT1
ORF Names:AD-005
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7877 CNOT1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604917 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_A5YKK6

<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

Keywords - Cellular componenti

Cytoplasm, 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1208K → E: Impairs interaction with CNOT7; when associated with Y-1212 and E-1218. 1 Publication1
Mutagenesisi1209P → Y: Abolishes interaction with CNOT7; when associated with Y-1257. 1
Mutagenesisi1212H → Y: Impairs interaction with CNOT7; when associated with E-1208 and E-1218. 1 Publication1
Mutagenesisi1218K → E: Impairs interaction with CNOT7; when associated with E-1208 and Y-1212. 1 Publication1
Mutagenesisi1251V → R: Abolishes interaction with CNOT7. 1
Mutagenesisi1257P → Y: Abolishes interaction with CNOT7; when associated with Y-1209. 1

Organism-specific databases

DisGeNET

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DisGeNETi
23019

Open Targets

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OpenTargetsi
ENSG00000125107

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26672

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL4105919

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CNOT1

<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_00003155411 – 2376CCR4-NOT transcription complex subunit 1Add BLAST2376

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 residuei318PhosphoserineCombined sources1
Modified residuei1061PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
A5YKK6

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
A5YKK6

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
A5YKK6

MaxQB - The MaxQuant DataBase

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MaxQBi
A5YKK6

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

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PaxDbi
A5YKK6

PRoteomics IDEntifications database

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PRIDEi
A5YKK6

ProteomicsDB human proteome resource

More...
ProteomicsDBi
759 [A5YKK6-1]
760 [A5YKK6-2]
761 [A5YKK6-3]
762 [A5YKK6-4]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
A5YKK6

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
A5YKK6

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

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PhosphoSitePlusi
A5YKK6

SwissPalm database of S-palmitoylation events

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SwissPalmi
A5YKK6

<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

Strongly expressed in brain, heart, thymus, spleen, kidney, liver, placenta and lung. Weakly expressed in skeletal muscle and colon.1 Publication

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in embryonic stem (ES) cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000125107 Expressed in 232 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
A5YKK6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
A5YKK6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA046577
HPA049664

<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

Component of the CCR4-NOT complex; distinct complexes seem to exist that differ in the participation of probably mutually exclusive catalytic subunits (PubMed:10637334, PubMed:16778766, PubMed:19558367, PubMed:22977175). In the complex, interacts directly with CNOT6, CNOT6L, CNOT7 or CNOT8 (PubMed:10637334, PubMed:16778766, PubMed:22977175).

Interacts in a ligand-dependent fashion with ESR1 and RXRA (PubMed:16778766).

Interacts with NANOS2, TOB1 and ZFP36 (PubMed:18377426, PubMed:21278420, PubMed:23644599).

Interacts with TNRC6A, TNRC6B or TNRC6C; the interactions are direct (PubMed:21981923, PubMed:21984185).

Interacts with YTHDF2; the interaction is direct and promotes recruitment of the CCR4-NOT complex to N6-methyladenosine (m6A)-containing mRNAs, leading to their deadenylation and subsequent degradation (PubMed:27558897).

10 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
116660, 132 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
A5YKK6

Database of interacting proteins

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DIPi
DIP-44954N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
A5YKK6

Protein interaction database and analysis system

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IntActi
A5YKK6, 90 interactors

Molecular INTeraction database

More...
MINTi
A5YKK6

STRING: functional protein association networks

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STRINGi
9606.ENSP00000320949

<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

Secondary structure

12376
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
A5YKK6

Database of comparative protein structure models

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ModBasei
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

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>Regioni800 – 1015Interaction with ZFP36Add BLAST216
Regioni1090 – 1605Interaction with CNOT6, CNOT6L, CNOT7 and CNOT81 PublicationAdd BLAST516

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi153 – 157LXXLL5
Motifi181 – 185LXXLL5
Motifi223 – 227LXXLL5
Motifi570 – 574LXXLL5
Motifi1639 – 1643LXXLL5
Motifi1942 – 1946LXXLL5
Motifi2096 – 2100LXXLL5

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 biasi1333 – 1350Thr-richAdd BLAST18

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Contains Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs, a motif known to be important for the association with nuclear receptors.1 Publication

<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 CNOT1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1831 Eukaryota
COG5103 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000014869

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
A5YKK6

KEGG Orthology (KO)

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KOi
K12604

Identification of Orthologs from Complete Genome Data

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OMAi
TYPRLIN

Database of Orthologous Groups

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OrthoDBi
42530at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
A5YKK6

TreeFam database of animal gene trees

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TreeFami
TF105630

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.180, 1 hit
1.25.40.840, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR007196 CCR4-Not_Not1_C
IPR024557 CCR4-Not_Not1su_DUF3819
IPR040398 CNOT1
IPR032191 CNOT1_CAF1_bind
IPR032194 CNOT1_HEAT
IPR032193 CNOT1_TTP_bind
IPR038535 CNOT1_TTP_bind_sf
IPR016021 MIF4-like_sf

The PANTHER Classification System

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PANTHERi
PTHR13162 PTHR13162, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF16415 CNOT1_CAF1_bind, 1 hit
PF16418 CNOT1_HEAT, 1 hit
PF16417 CNOT1_TTP_bind, 1 hit
PF12842 DUF3819, 1 hit
PF04054 Not1, 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 (4+)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 4 <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 4 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: A5YKK6-1) [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
MNLDSLSLAL SQISYLVDNL TKKNYRASQQ EIQHIVNRHG PEADRHLLRC
60 70 80 90 100
LFSHVDFSGD GKSSGKDFHQ TQFLIQECAL LITKPNFIST LSYAIDNPLH
110 120 130 140 150
YQKSLKPAPH LFAQLSKVLK LSKVQEVIFG LALLNSSSSD LRGFAAQFIK
160 170 180 190 200
QKLPDLLRSY IDADVSGNQE GGFQDIAIEV LHLLLSHLLF GQKGAFGVGQ
210 220 230 240 250
EQIDAFLKTL RRDFPQERCP VVLAPLLYPE KRDILMDRIL PDSGGVAKTM
260 270 280 290 300
MESSLADFMQ EVGYGFCASI EECRNIIVQF GVREVTAAQV ARVLGMMART
310 320 330 340 350
HSGLTDGIPL QSISAPGSGI WSDGKDKSDG AQAHTWNVEV LIDVLKELNP
360 370 380 390 400
SLNFKEVTYE LDHPGFQIRD SKGLHNVVYG IQRGLGMEVF PVDLIYRPWK
410 420 430 440 450
HAEGQLSFIQ HSLINPEIFC FADYPCHTVA TDILKAPPED DNREIATWKS
460 470 480 490 500
LDLIESLLRL AEVGQYEQVK QLFSFPIKHC PDMLVLALLQ INTSWHTLRH
510 520 530 540 550
ELISTLMPIF LGNHPNSAII LHYAWHGQGQ SPSIRQLIMH AMAEWYMRGE
560 570 580 590 600
QYDQAKLSRI LDVAQDLKAL SMLLNGTPFA FVIDLAALAS RREYLKLDKW
610 620 630 640 650
LTDKIREHGE PFIQACMTFL KRRCPSILGG LAPEKDQPKS AQLPPETLAT
660 670 680 690 700
MLACLQACAG SVSQELSETI LTMVANCSNV MNKARQPPPG VMPKGRPPSA
710 720 730 740 750
SSLDAISPVQ IDPLAGMTSL SIGGSAAPHT QSMQGFPPNL GSAFSTPQSP
760 770 780 790 800
AKAFPPLSTP NQTTAFSGIG GLSSQLPVGG LGTGSLTGIG TGALGLPAVN
810 820 830 840 850
NDPFVQRKLG TSGLNQPTFQ QSKMKPSDLS QVWPEANQHF SKEIDDEANS
860 870 880 890 900
YFQRIYNHPP HPTMSVDEVL EMLQRFKDST IKREREVFNC MLRNLFEEYR
910 920 930 940 950
FFPQYPDKEL HITACLFGGI IEKGLVTYMA LGLALRYVLE ALRKPFGSKM
960 970 980 990 1000
YYFGIAALDR FKNRLKDYPQ YCQHLASISH FMQFPHHLQE YIEYGQQSRD
1010 1020 1030 1040 1050
PPVKMQGSIT TPGSIALAQA QAQAQVPAKA PLAGQVSTMV TTSTTTTVAK
1060 1070 1080 1090 1100
TVTVTRPTGV SFKKDVPPSI NTTNIDTLLV ATDQTERIVE PPENIQEKIA
1110 1120 1130 1140 1150
FIFNNLSQSN MTQKVEELKE TVKEEFMPWV SQYLVMKRVS IEPNFHSLYS
1160 1170 1180 1190 1200
NFLDTLKNPE FNKMVLNETY RNIKVLLTSD KAAANFSDRS LLKNLGHWLG
1210 1220 1230 1240 1250
MITLAKNKPI LHTDLDVKSL LLEAYVKGQQ ELLYVVPFVA KVLESSIRSV
1260 1270 1280 1290 1300
VFRPPNPWTM AIMNVLAELH QEHDLKLNLK FEIEVLCKNL ALDINELKPG
1310 1320 1330 1340 1350
NLLKDKDRLK NLDEQLSAPK KDVKQPEELP PITTTTTSTT PATNTTCTAT
1360 1370 1380 1390 1400
VPPQPQYSYH DINVYSLAGL APHITLNPTI PLFQAHPQLK QCVRQAIERA
1410 1420 1430 1440 1450
VQELVHPVVD RSIKIAMTTC EQIVRKDFAL DSEESRMRIA AHHMMRNLTA
1460 1470 1480 1490 1500
GMAMITCREP LLMSISTNLK NSFASALRTA SPQQREMMDQ AAAQLAQDNC
1510 1520 1530 1540 1550
ELACCFIQKT AVEKAGPEMD KRLATEFELR KHARQEGRRY CDPVVLTYQA
1560 1570 1580 1590 1600
ERMPEQIRLK VGGVDPKQLA VYEEFARNVP GFLPTNDLSQ PTGFLAQPMK
1610 1620 1630 1640 1650
QAWATDDVAQ IYDKCITELE QHLHAIPPTL AMNPQAQALR SLLEVVVLSR
1660 1670 1680 1690 1700
NSRDAIAALG LLQKAVEGLL DATSGADADL LLRYRECHLL VLKALQDGRA
1710 1720 1730 1740 1750
YGSPWCNKQI TRCLIECRDE YKYNVEAVEL LIRNHLVNMQ QYDLHLAQSM
1760 1770 1780 1790 1800
ENGLNYMAVA FAMQLVKILL VDERSVAHVT EADLFHTIET LMRINAHSRG
1810 1820 1830 1840 1850
NAPEGLPQLM EVVRSNYEAM IDRAHGGPNF MMHSGISQAS EYDDPPGLRE
1860 1870 1880 1890 1900
KAEYLLREWV NLYHSAAAGR DSTKAFSAFV GQMHQQGILK TDDLITRFFR
1910 1920 1930 1940 1950
LCTEMCVEIS YRAQAEQQHN PAANPTMIRA KCYHNLDAFV RLIALLVKHS
1960 1970 1980 1990 2000
GEATNTVTKI NLLNKVLGIV VGVLLQDHDV RQSEFQQLPY HRIFIMLLLE
2010 2020 2030 2040 2050
LNAPEHVLET INFQTLTAFC NTFHILRPTK APGFVYAWLE LISHRIFIAR
2060 2070 2080 2090 2100
MLAHTPQQKG WPMYAQLLID LFKYLAPFLR NVELTKPMQI LYKGTLRVLL
2110 2120 2130 2140 2150
VLLHDFPEFL CDYHYGFCDV IPPNCIQLRN LILSAFPRNM RLPDPFTPNL
2160 2170 2180 2190 2200
KVDMLSEINI APRILTNFTG VMPPQFKKDL DSYLKTRSPV TFLSDLRSNL
2210 2220 2230 2240 2250
QVSNEPGNRY NLQLINALVL YVGTQAIAHI HNKGSTPSMS TITHSAHMDI
2260 2270 2280 2290 2300
FQNLAVDLDT EGRYLFLNAI ANQLRYPNSH THYFSCTMLY LFAEANTEAI
2310 2320 2330 2340 2350
QEQITRVLLE RLIVNRPHPW GLLITFIELI KNPAFKFWNH EFVHCAPEIE
2360 2370
KLFQSVAQCC MGQKQAQQVM EGTGAS
Length:2,376
Mass (Da):266,939
Last modified:January 15, 2008 - v2
<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:i937A0899537BA615
GO
Isoform 2 (identifier: A5YKK6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     822-827: SKMKPS → T

Show »
Length:2,371
Mass (Da):266,381
Checksum:i23D129C7F9CE775B
GO
Isoform 3 (identifier: A5YKK6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     822-827: SKMKPS → T
     2152-2155: VDML → SLTL
     2156-2376: Missing.

Show »
Length:2,150
Mass (Da):241,260
Checksum:iBBB731593591523C
GO
Isoform 4 (identifier: A5YKK6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1479-1551: TASPQQREMM...DPVVLTYQAE → VSWLFPWYRY...FFLLYSQHDV
     1552-2376: Missing.

Show »
Length:1,551
Mass (Da):173,792
Checksum:i00329322012ABAD2
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BMH0H3BMH0_HUMAN
CCR4-NOT transcription complex subu...
CNOT1
277Annotation 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>
H3BNB1H3BNB1_HUMAN
CCR4-NOT transcription complex subu...
CNOT1
185Annotation 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>
H3BR89H3BR89_HUMAN
CCR4-NOT transcription complex subu...
CNOT1
193Annotation 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>
H3BVC9H3BVC9_HUMAN
CCR4-NOT transcription complex subu...
CNOT1
241Annotation 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>
H3BTH2H3BTH2_HUMAN
CCR4-NOT transcription complex subu...
CNOT1
68Annotation 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>
H3BMZ2H3BMZ2_HUMAN
CCR4-NOT transcription complex subu...
CNOT1
439Annotation 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>
H3BT18H3BT18_HUMAN
CCR4-NOT transcription complex subu...
CNOT1
62Annotation 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>
H3BU44H3BU44_HUMAN
CCR4-NOT transcription complex subu...
CNOT1
96Annotation 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>
H3BPF1H3BPF1_HUMAN
CCR4-NOT transcription complex subu...
CNOT1
25Annotation 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 AAF14861 differs from that shown. Reason: Frameshift at positions 1969 and 2273.Curated
The sequence CAH18093 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti18D → G in CAD97851 (PubMed:17974005).Curated1
Sequence conflicti323D → G in CAD97851 (PubMed:17974005).Curated1
Sequence conflicti922E → G in ABQ66268 (PubMed:17974005).Curated1
Sequence conflicti1063K → R in CAH18093 (PubMed:17974005).Curated1
Sequence conflicti1417M → V in CAD97851 (PubMed:17974005).Curated1
Sequence conflicti1799R → G in CAD97851 (PubMed:17974005).Curated1
Sequence conflicti1936L → P in CAH18093 (PubMed:17974005).Curated1
Sequence conflicti2198 – 2200SNL → RTV in AAF14861 (PubMed:10931946).Curated3
Sequence conflicti2358Q → R in ABQ66268 (PubMed:17974005).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_038254603D → A1 PublicationCorresponds to variant dbSNP:rs17854028Ensembl.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_030559822 – 827SKMKPS → T in isoform 2 and isoform 3. 2 Publications6
Alternative sequenceiVSP_0305601479 – 1551TASPQ…TYQAE → VSWLFPWYRYKTYYCLSVII FFFVYIWHWALPLILNNHHI CLMSSIILDCNSVRQSIMSV CFFFFLLYSQHDV in isoform 4. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_0305611552 – 2376Missing in isoform 4. 1 PublicationAdd BLAST825
Alternative sequenceiVSP_0305622152 – 2155VDML → SLTL in isoform 3. 1 Publication4
Alternative sequenceiVSP_0305632156 – 2376Missing in isoform 3. 1 PublicationAdd BLAST221

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
AL117492 mRNA Translation: CAB55960.1
BX537840 mRNA Translation: CAD97851.1
CR749237 mRNA Translation: CAH18093.1 Different initiation.
EF553522 mRNA Translation: ABQ66268.1
AC009118 Genomic DNA No translation available.
AC010287 Genomic DNA No translation available.
BC000779 mRNA Translation: AAH00779.2
BC024317 mRNA Translation: AAH24317.1
BC040523 mRNA Translation: AAH40523.1
AB023224 mRNA Translation: BAA76851.2
AF110778 mRNA Translation: AAF14861.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10799.1 [A5YKK6-1]
CCDS45501.1 [A5YKK6-4]
CCDS58468.1 [A5YKK6-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
T17270

NCBI Reference Sequences

More...
RefSeqi
NP_001252541.1, NM_001265612.1 [A5YKK6-2]
NP_057368.3, NM_016284.4 [A5YKK6-1]
NP_996882.1, NM_206999.2 [A5YKK6-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000317147; ENSP00000320949; ENSG00000125107 [A5YKK6-1]
ENST00000441024; ENSP00000413113; ENSG00000125107 [A5YKK6-4]
ENST00000567188; ENSP00000456649; ENSG00000125107 [A5YKK6-3]
ENST00000569240; ENSP00000455635; ENSG00000125107 [A5YKK6-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23019

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23019

UCSC genome browser

More...
UCSCi
uc002enu.6 human [A5YKK6-1]

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
AL117492 mRNA Translation: CAB55960.1
BX537840 mRNA Translation: CAD97851.1
CR749237 mRNA Translation: CAH18093.1 Different initiation.
EF553522 mRNA Translation: ABQ66268.1
AC009118 Genomic DNA No translation available.
AC010287 Genomic DNA No translation available.
BC000779 mRNA Translation: AAH00779.2
BC024317 mRNA Translation: AAH24317.1
BC040523 mRNA Translation: AAH40523.1
AB023224 mRNA Translation: BAA76851.2
AF110778 mRNA Translation: AAF14861.1 Frameshift.
CCDSiCCDS10799.1 [A5YKK6-1]
CCDS45501.1 [A5YKK6-4]
CCDS58468.1 [A5YKK6-2]
PIRiT17270
RefSeqiNP_001252541.1, NM_001265612.1 [A5YKK6-2]
NP_057368.3, NM_016284.4 [A5YKK6-1]
NP_996882.1, NM_206999.2 [A5YKK6-4]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4C0DX-ray3.20A1565-2371[»]
4CQOX-ray2.80A/C1833-2361[»]
4CRUX-ray1.65A1356-1607[»]
4CRVX-ray2.05A1356-1607[»]
4CRWX-ray1.75A1093-1317[»]
4CT4X-ray2.30A/C1063-1314[»]
4CT6X-ray2.10A1352-1594[»]
4CT7X-ray1.90A1352-1594[»]
4GMJX-ray2.70A/C/E1093-1317[»]
4GMLX-ray2.90A/B/C/D/E/F1093-1317[»]
4J8SX-ray1.55A800-1004[»]
5ANRX-ray2.10A1063-1314[»]
5FU6X-ray2.90A/D1833-2361[»]
5FU7X-ray3.10A/E1833-2361[»]
5ONAX-ray2.70A/D1351-1588[»]
SMRiA5YKK6
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116660, 132 interactors
CORUMiA5YKK6
DIPiDIP-44954N
ELMiA5YKK6
IntActiA5YKK6, 90 interactors
MINTiA5YKK6
STRINGi9606.ENSP00000320949

Chemistry databases

ChEMBLiCHEMBL4105919

PTM databases

CarbonylDBiA5YKK6
iPTMnetiA5YKK6
PhosphoSitePlusiA5YKK6
SwissPalmiA5YKK6

Polymorphism and mutation databases

BioMutaiCNOT1

Proteomic databases

EPDiA5YKK6
jPOSTiA5YKK6
MassIVEiA5YKK6
MaxQBiA5YKK6
PaxDbiA5YKK6
PRIDEiA5YKK6
ProteomicsDBi759 [A5YKK6-1]
760 [A5YKK6-2]
761 [A5YKK6-3]
762 [A5YKK6-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317147; ENSP00000320949; ENSG00000125107 [A5YKK6-1]
ENST00000441024; ENSP00000413113; ENSG00000125107 [A5YKK6-4]
ENST00000567188; ENSP00000456649; ENSG00000125107 [A5YKK6-3]
ENST00000569240; ENSP00000455635; ENSG00000125107 [A5YKK6-2]
GeneIDi23019
KEGGihsa:23019
UCSCiuc002enu.6 human [A5YKK6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23019
DisGeNETi23019

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CNOT1
HGNCiHGNC:7877 CNOT1
HPAiHPA046577
HPA049664
MIMi604917 gene
neXtProtiNX_A5YKK6
OpenTargetsiENSG00000125107
PharmGKBiPA26672

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1831 Eukaryota
COG5103 LUCA
GeneTreeiENSGT00390000014869
InParanoidiA5YKK6
KOiK12604
OMAiTYPRLIN
OrthoDBi42530at2759
PhylomeDBiA5YKK6
TreeFamiTF105630

Enzyme and pathway databases

ReactomeiR-HSA-429947 Deadenylation of mRNA
R-HSA-6804115 TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain

Miscellaneous databases

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

More...
ChiTaRSi
CNOT1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CNOT1

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

More...
GenomeRNAii
23019

Pharos

More...
Pharosi
A5YKK6

Protein Ontology

More...
PROi
PR:A5YKK6

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000125107 Expressed in 232 organ(s), highest expression level in testis
ExpressionAtlasiA5YKK6 baseline and differential
GenevisibleiA5YKK6 HS

Family and domain databases

Gene3Di1.25.40.180, 1 hit
1.25.40.840, 1 hit
InterProiView protein in InterPro
IPR007196 CCR4-Not_Not1_C
IPR024557 CCR4-Not_Not1su_DUF3819
IPR040398 CNOT1
IPR032191 CNOT1_CAF1_bind
IPR032194 CNOT1_HEAT
IPR032193 CNOT1_TTP_bind
IPR038535 CNOT1_TTP_bind_sf
IPR016021 MIF4-like_sf
PANTHERiPTHR13162 PTHR13162, 1 hit
PfamiView protein in Pfam
PF16415 CNOT1_CAF1_bind, 1 hit
PF16418 CNOT1_HEAT, 1 hit
PF16417 CNOT1_TTP_bind, 1 hit
PF12842 DUF3819, 1 hit
PF04054 Not1, 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 nameiCNOT1_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: A5YKK6
Secondary accession number(s): Q68DX7
, Q7Z3K2, Q8IWB8, Q8TB53, Q9BVZ6, Q9UFR8, Q9UI27, Q9Y2L0
<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 15, 2008
Last sequence update: January 15, 2008
Last modified: September 18, 2019
This is version 122 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  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
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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