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UniProtKB - Q96RJ6 (FER3L_HUMAN)

Entry version 152 (25 May 2022)
Sequence version 1 (01 Dec 2001)
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Protein

Fer3-like protein

Gene

FERD3L

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

Transcription factor that binds to the E-box and functions as inhibitor of transcription. DNA binding requires dimerization with an E protein. Inhibits transcription activation by ASCL1/MASH1 by sequestering E proteins (By similarity).

By similarity

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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96RJ6

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q96RJ6

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Fer3-like protein
Alternative name(s):
Basic helix-loop-helix protein N-twist
Class A basic helix-loop-helix protein 31
Short name:
bHLHa31
Nephew of atonal 3
Neuronal twist
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FERD3L
Synonyms:BHLHA31, NATO3, NTWIST
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:16660, FERD3L

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		617578, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96RJ6

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000146618

<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

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

Organism-specific databases

DisGeNET

More...DisGeNETi		222894

Open Targets

More...OpenTargetsi		ENSG00000146618

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134973730

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96RJ6, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FERD3L

Domain mapping of disease mutations (DMDM)

More...DMDMi		74752106

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003286821 – 166Fer3-like proteinAdd BLAST166

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96RJ6

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

More...PaxDbi		Q96RJ6

PeptideAtlas

More...PeptideAtlasi		Q96RJ6

PRoteomics IDEntifications database

More...PRIDEi		Q96RJ6

PTM databases

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

More...PhosphoSitePlusi		Q96RJ6

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000146618, Expressed in sural nerve and 32 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96RJ6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000146618, Tissue enriched (brain)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer with TCF3/E12.

Interacts with the bHLH domain of TCF3/E12 (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		128819, 16 interactors

Protein interaction database and analysis system

More...IntActi		Q96RJ6, 11 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000275461

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96RJ6, protein

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

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q96RJ6

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

More...SMRi		Q96RJ6

Database of comparative protein structure models

More...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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">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>Domaini101 – 153bHLHPROSITE-ProRule annotationAdd BLAST53

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>Regioni57 – 88DisorderedSequence analysisAdd BLAST32

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi61 – 80Acidic residuesSequence analysisAdd BLAST20

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4029, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161409

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_148882_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96RJ6

Identification of Orthologs from Complete Genome Data

More...OMAi		LDGCSRQ

Database of Orthologous Groups

More...OrthoDBi		1513995at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96RJ6

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011598, bHLH_dom
IPR036638, HLH_DNA-bd_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00010, HLH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00353, HLH, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47459, SSF47459, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50888, BHLH, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q96RJ6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAYPESCVD TTVLDFVADL SLASPRRPLL CDFAPGVSLG DPALALREGR 
        60         70         80         90        100
PRRMARFEEG DPEEEECEVD QGDGEEEEEE ERGRGVSLLG RPKRKRVITY 
       110        120        130        140        150
AQRQAANIRE RKRMFNLNEA FDQLRRKVPT FAYEKRLSRI ETLRLAIVYI 
       160 
SFMTELLESC EKKESG
Length:166
Mass (Da):19,017
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i206F6EDE1F54C79C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti74G → GE in AAI01136 (PubMed:15489334).Curated1
Sequence conflicti74G → GE in AAI01137 (PubMed:15489334).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_04243936G → R in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs775679607Ensembl.1

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
AF369897 Genomic DNA Translation: AAK72956.1
AF517122 mRNA Translation: AAN04086.1
CH236948 Genomic DNA Translation: EAL24278.1
CH471073 Genomic DNA Translation: EAW93712.1
BC069147 mRNA Translation: AAH69147.1
BC101135 mRNA Translation: AAI01136.1
BC101136 mRNA Translation: AAI01137.1
BC101137 mRNA Translation: AAI01138.1
BC101138 mRNA Translation: AAI01139.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5368.1

NCBI Reference Sequences

More...RefSeqi		NP_690862.1, NM_152898.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000275461.3; ENSP00000275461.3; ENSG00000146618.3

Database of genes from NCBI RefSeq genomes

More...GeneIDi		222894

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:222894

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000275461.3; ENSP00000275461.3; NM_152898.2; NP_690862.1

UCSC genome browser

More...UCSCi		uc003suo.1, human

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF369897 Genomic DNA Translation: AAK72956.1
AF517122 mRNA Translation: AAN04086.1
CH236948 Genomic DNA Translation: EAL24278.1
CH471073 Genomic DNA Translation: EAW93712.1
BC069147 mRNA Translation: AAH69147.1
BC101135 mRNA Translation: AAI01136.1
BC101136 mRNA Translation: AAI01137.1
BC101137 mRNA Translation: AAI01138.1
BC101138 mRNA Translation: AAI01139.1
CCDSiCCDS5368.1
RefSeqiNP_690862.1, NM_152898.2

3D structure databases

AlphaFoldDBiQ96RJ6
SMRiQ96RJ6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi128819, 16 interactors
IntActiQ96RJ6, 11 interactors
STRINGi9606.ENSP00000275461

PTM databases

PhosphoSitePlusiQ96RJ6

Genetic variation databases

BioMutaiFERD3L
DMDMi74752106

Proteomic databases

MassIVEiQ96RJ6
PaxDbiQ96RJ6
PeptideAtlasiQ96RJ6
PRIDEiQ96RJ6

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		11904, 87 antibodies from 20 providers

The DNASU plasmid repository

More...DNASUi		222894

Genome annotation databases

EnsembliENST00000275461.3; ENSP00000275461.3; ENSG00000146618.3
GeneIDi222894
KEGGihsa:222894
MANE-SelectiENST00000275461.3; ENSP00000275461.3; NM_152898.2; NP_690862.1
UCSCiuc003suo.1, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		222894
DisGeNETi222894

GeneCards: human genes, protein and diseases

More...GeneCardsi		FERD3L
HGNCiHGNC:16660, FERD3L
HPAiENSG00000146618, Tissue enriched (brain)
MIMi617578, gene
neXtProtiNX_Q96RJ6
OpenTargetsiENSG00000146618
PharmGKBiPA134973730
VEuPathDBiHostDB:ENSG00000146618

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4029, Eukaryota
GeneTreeiENSGT00940000161409
HOGENOMiCLU_148882_0_0_1
InParanoidiQ96RJ6
OMAiLDGCSRQ
OrthoDBi1513995at2759
PhylomeDBiQ96RJ6

Enzyme and pathway databases

PathwayCommonsiQ96RJ6
SignaLinkiQ96RJ6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		222894, 10 hits in 1087 CRISPR screens

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

More...GenomeRNAii		222894
PharosiQ96RJ6, Tbio

Protein Ontology

More...PROi		PR:Q96RJ6
RNActiQ96RJ6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000146618, Expressed in sural nerve and 32 other tissues
GenevisibleiQ96RJ6, HS

Family and domain databases

Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598, bHLH_dom
IPR036638, HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010, HLH, 1 hit
SMARTiView protein in SMART
SM00353, HLH, 1 hit
SUPFAMiSSF47459, SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888, BHLH, 1 hit

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 nameiFER3L_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: Q96RJ6
Secondary accession number(s): Q495K0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: December 1, 2001
Last modified: May 25, 2022
This is version 152 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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