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UniProtKB - Q8IY51 (TIGD4_HUMAN)

Entry version 150 (07 Apr 2021)
Sequence version 2 (18 May 2010)
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Protein

Tigger transposable element-derived protein 4

Gene

TIGD4

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

Annotation score:3 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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi39 – 59H-T-H motifBy similarityAdd BLAST21
DNA bindingi108 – 139H-T-H motifBy similarityAdd BLAST32

<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

  • DNA binding Source: GO_Central
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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8IY51

<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:
Tigger transposable element-derived protein 4
<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:TIGD4
<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 4

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:18335, TIGD4

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8IY51

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000169989.2

<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		201798

Open Targets

More...OpenTargetsi		ENSG00000169989

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA38528

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8IY51, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TIGD4

Domain mapping of disease mutations (DMDM)

More...DMDMi		296452928

<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_00002726161 – 512Tigger transposable element-derived protein 4Add BLAST512

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8IY51

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

More...PaxDbi		Q8IY51

PeptideAtlas

More...PeptideAtlasi		Q8IY51

PRoteomics IDEntifications database

More...PRIDEi		Q8IY51

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		71111

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8IY51

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

More...PhosphoSitePlusi		Q8IY51

<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		ENSG00000169989, Expressed in sperm and 121 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8IY51, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000169989, Tissue enhanced (pituitary gland, testis)

<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 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		128403, 4 interactors

Protein interaction database and analysis system

More...IntActi		Q8IY51, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000355162

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8IY51, 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

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

More...SMRi		Q8IY51

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>Domaini12 – 63HTH psq-typePROSITE-ProRule annotationAdd BLAST52
Domaini75 – 146HTH CENPB-typePROSITE-ProRule annotationAdd BLAST72
Domaini174 – 375DDE-1Sequence analysisAdd BLAST202

<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 tigger transposable element derived protein family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3105, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160195

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_018294_0_4_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8IY51

Identification of Orthologs from Complete Genome Data

More...OMAi		QWMQKLD

Database of Orthologous Groups

More...OrthoDBi		1343623at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8IY51

TreeFam database of animal gene trees

More...TreeFami		TF101131

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR004875, DDE_SF_endonuclease_dom
IPR009057, Homeobox-like_sf
IPR006600, HTH_CenpB_DNA-bd_dom
IPR007889, HTH_Psq

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04218, CENP-B_N, 1 hit
PF03184, DDE_1, 1 hit
PF03221, HTH_Tnp_Tc5, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00674, CENPB, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689, SSF46689, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51253, HTH_CENPB, 1 hit
PS50960, HTH_PSQ, 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.

Q8IY51-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAEASVDAST LPVTVKKKKS LSIEEKIDII NAVESGKKKA EIAAEYGIKK 
        60         70         80         90        100
NSLSSIMKNK DKVLEAFESL RFDPKRKRLR TAFYTDLEEA LMRWYRIAQC 
       110        120        130        140        150
LNVPVNGPML RLKANDFAQK LGHNDFKCSN GWLDRFKSRY GLVFRAQPVE 
       160        170        180        190        200
ATGVPVDPST VWYQNVLPYY LNDYHPKNVF NIKETGLLYR MLPTNTFAFK 
       210        220        230        240        250
GETCSVGKLC KDRITLVVGT NMDGSEKLPL LVIGKKRTPH CFKGLKSLPV 
       260        270        280        290        300
CYEANRMAWM TSDVFEQWMR KLDEEFQAQQ RRVVIFVESF PAHPEVKNLK 
       310        320        330        340        350
SIELAFFPSC LSSKCIAMKQ GVIKSLKIKY RHCLIKKFLS SVEGSKEFTF 
       360        370        380        390        400
SLLDAVDTLH LCWRAVTPET IVKSYEEAGF KSQKGESDIT NAEKDTGLDL 
       410        420        430        440        450
VADALGAGVE FPEGLSIEEY AALDDDLETC EAAPNGDSIC TKESKSDETG 
       460        470        480        490        500
FYTSDEEDDD GSPGTELPLP SKSEAITALD TLKKFLRSQD MNDGLQNSLA 
       510 
DLENFINSLS PK
Length:512
Mass (Da):57,468
Last modified:May 18, 2010 - 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:i212034AE45493CD2
GO

<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 BAB71642 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti91L → LSR in BAB71642 (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_057509432A → T. Corresponds to variant dbSNP:rs34432931Ensembl.1
Natural variantiVAR_030042439I → V1 PublicationCorresponds to variant dbSNP:rs4696354Ensembl.1
Natural variantiVAR_057510489Q → R. Corresponds to variant dbSNP:rs35581576Ensembl.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
AC106882 Genomic DNA No translation available.
BC037869 mRNA Translation: AAH37869.1
AK058054 mRNA Translation: BAB71642.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34079.1

NCBI Reference Sequences

More...RefSeqi		NP_663772.1, NM_145720.3
XP_005262864.1, XM_005262807.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000304337; ENSP00000355162; ENSG00000169989

Database of genes from NCBI RefSeq genomes

More...GeneIDi		201798

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:201798

UCSC genome browser

More...UCSCi		uc003imy.3, 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
AC106882 Genomic DNA No translation available.
BC037869 mRNA Translation: AAH37869.1
AK058054 mRNA Translation: BAB71642.1 Different initiation.
CCDSiCCDS34079.1
RefSeqiNP_663772.1, NM_145720.3
XP_005262864.1, XM_005262807.4

3D structure databases

SMRiQ8IY51
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi128403, 4 interactors
IntActiQ8IY51, 2 interactors
STRINGi9606.ENSP00000355162

PTM databases

iPTMnetiQ8IY51
PhosphoSitePlusiQ8IY51

Genetic variation databases

BioMutaiTIGD4
DMDMi296452928

Proteomic databases

MassIVEiQ8IY51
PaxDbiQ8IY51
PeptideAtlasiQ8IY51
PRIDEiQ8IY51
ProteomicsDBi71111

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		27816, 81 antibodies

The DNASU plasmid repository

More...DNASUi		201798

Genome annotation databases

EnsembliENST00000304337; ENSP00000355162; ENSG00000169989
GeneIDi201798
KEGGihsa:201798
UCSCiuc003imy.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		201798
DisGeNETi201798

GeneCards: human genes, protein and diseases

More...GeneCardsi		TIGD4
HGNCiHGNC:18335, TIGD4
HPAiENSG00000169989, Tissue enhanced (pituitary gland, testis)
neXtProtiNX_Q8IY51
OpenTargetsiENSG00000169989
PharmGKBiPA38528
VEuPathDBiHostDB:ENSG00000169989.2

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3105, Eukaryota
GeneTreeiENSGT00940000160195
HOGENOMiCLU_018294_0_4_1
InParanoidiQ8IY51
OMAiQWMQKLD
OrthoDBi1343623at2759
PhylomeDBiQ8IY51
TreeFamiTF101131

Enzyme and pathway databases

PathwayCommonsiQ8IY51

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		201798, 16 hits in 955 CRISPR screens

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

More...GenomeRNAii		201798
PharosiQ8IY51, Tdark

Protein Ontology

More...PROi		PR:Q8IY51
RNActiQ8IY51, protein

Gene expression databases

BgeeiENSG00000169989, Expressed in sperm and 121 other tissues
GenevisibleiQ8IY51, HS

Family and domain databases

InterProiView protein in InterPro
IPR004875, DDE_SF_endonuclease_dom
IPR009057, Homeobox-like_sf
IPR006600, HTH_CenpB_DNA-bd_dom
IPR007889, HTH_Psq
PfamiView protein in Pfam
PF04218, CENP-B_N, 1 hit
PF03184, DDE_1, 1 hit
PF03221, HTH_Tnp_Tc5, 1 hit
SMARTiView protein in SMART
SM00674, CENPB, 1 hit
SUPFAMiSSF46689, SSF46689, 2 hits
PROSITEiView protein in PROSITE
PS51253, HTH_CENPB, 1 hit
PS50960, HTH_PSQ, 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 nameiTIGD4_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: Q8IY51
Secondary accession number(s): Q96LP5
<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: January 23, 2007
Last sequence update: May 18, 2010
Last modified: April 7, 2021
This is version 150 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

Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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. SIMILARITY comments
    Index of protein domains and families
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