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UniProtKB - Q9P2R6 (RERE_HUMAN)

Entry version 184 (02 Dec 2020)
Sequence version 2 (10 Jan 2006)
Previous versions | rss
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Protein

Arginine-glutamic acid dipeptide repeats protein

Gene

RERE

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

Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death.1 Publication

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(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri507 – 532GATA-typeAdd BLAST26

<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 functionDevelopmental protein, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9P2R6

<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:
Arginine-glutamic acid dipeptide repeats protein
Alternative name(s):
Atrophin-1-like protein
Atrophin-1-related protein
<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:RERE
Synonyms:ARG, ARP, ATN1L, KIAA0458
<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 1

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000142599.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:9965, RERE

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605226, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9P2R6

<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

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

A chromosomal aberration involving RERE is found in the neuroblastoma cell line NGP. Translocation t(1;15)(p36.2;q24).
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by developmental delay, intellectual disability, brain anomalies, and neurological abnormalities including seizures, hypotonia, and behavioral problems such as autism spectrum disorders. Brain anomalies include abnormalities and/or thinning of the corpus callosum, diminished white matter volume, abnormal cerebellar vermis, and ventriculomegaly. Congenital defects of the eye, heart and genitourinary system are present in half of the patients.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077007471V → I in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs765016528Ensembl.1
Natural variantiVAR_0770081156G → R in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs766951273EnsemblClinVar.1
Natural variantiVAR_0770091262P → R in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs878853270EnsemblClinVar.1
Natural variantiVAR_0770101431H → Q in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs869312871EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		473

MalaCards human disease database

More...MalaCardsi		RERE
MIMi616975, phenotype

Open Targets

More...OpenTargetsi		ENSG00000142599

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

More...Orphaneti		1606, 1p36 deletion syndrome
494344, RERE-related neurodevelopmental syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34332

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9P2R6, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RERE

Domain mapping of disease mutations (DMDM)

More...DMDMi		85540730

<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_00000835041 – 1566Arginine-glutamic acid dipeptide repeats proteinAdd BLAST1566

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 residuei53PhosphoserineCombined sources1
Modified residuei56PhosphoserineCombined sources1
Modified residuei120PhosphothreonineCombined sources1
Modified residuei142PhosphoserineBy similarity1
Modified residuei304PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki560Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei594PhosphoserineCombined sources1
Modified residuei600PhosphoserineCombined sources1
Modified residuei613PhosphoserineCombined sources1
Cross-linki637Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei642PhosphoserineCombined sources1
Modified residuei656PhosphoserineCombined sources1
Modified residuei675PhosphoserineCombined sources1
Modified residuei679PhosphoserineCombined sources1
Modified residuei1106PhosphoserineCombined sources1
Modified residuei1113PhosphoserineCombined sources1
Modified residuei1115PhosphoserineBy similarity1
Modified residuei1119PhosphothreonineCombined sources1
Modified residuei1158N6-acetyllysineBy similarity1
Modified residuei1259PhosphotyrosineCombined sources1
Modified residuei1266PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9P2R6

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9P2R6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9P2R6

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9P2R6

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

More...PaxDbi		Q9P2R6

PeptideAtlas

More...PeptideAtlasi		Q9P2R6

PRoteomics IDEntifications database

More...PRIDEi		Q9P2R6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		83883 [Q9P2R6-1]
83884 [Q9P2R6-2]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q9P2R6

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9P2R6, 2 sites, 1 O-linked glycan (2 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9P2R6

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

More...PhosphoSitePlusi		Q9P2R6

<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

Widely expressed. Expressed in tumor cell lines.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000142599, Expressed in corpus callosum and 250 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9P2R6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9P2R6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000142599, Low tissue specificity

<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

Interacts with HDAC1 (By similarity).

Interacts with ATN1. Interaction with ATN1 is improved when the poly-Gln region of ATN1 is extended.

Interacts with FAT1.

By similarity2 Publications

<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		106963, 39 interactors

Database of interacting proteins

More...DIPi		DIP-47606N

Protein interaction database and analysis system

More...IntActi		Q9P2R6, 31 interactors

Molecular INTeraction database

More...MINTi		Q9P2R6

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000338629

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9P2R6, 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

Secondary structure

11566
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

More...SMRi		Q9P2R6

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9P2R6

<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>Domaini103 – 283BAHPROSITE-ProRule annotationAdd BLAST181
Domaini284 – 387ELM2PROSITE-ProRule annotationAdd BLAST104
Domaini391 – 443SANTPROSITE-ProRule annotationAdd BLAST53

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1156 – 1211Sequence analysisAdd BLAST56

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 biasi738 – 1118Pro-richAdd BLAST381
Compositional biasi1179 – 1204Arg/Glu-rich (mixed charge)Add BLAST26
Compositional biasi1300 – 1322Arg/Glu-rich (mixed charge)Add BLAST23
Compositional biasi1425 – 1445His-richAdd BLAST21
Compositional biasi1451 – 1510Pro-richAdd BLAST60

<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

The interaction with ATN1 is mediated by the coiled coil domain.

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri507 – 532GATA-typeAdd BLAST26

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2133, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153615

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_005292_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9P2R6

Identification of Orthologs from Complete Genome Data

More...OMAi		PCRRLNS

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9P2R6

TreeFam database of animal gene trees

More...TreeFami		TF328554

Family and domain databases

Conserved Domains Database

More...CDDi		cd00202, ZnF_GATA, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002951, Atrophin-like
IPR001025, BAH_dom
IPR000949, ELM2_dom
IPR009057, Homeobox-like_sf
IPR001005, SANT/Myb
IPR017884, SANT_dom
IPR000679, Znf_GATA

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03154, Atrophin-1, 1 hit
PF01426, BAH, 1 hit
PF01448, ELM2, 1 hit
PF00320, GATA, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00439, BAH, 1 hit
SM01189, ELM2, 1 hit
SM00717, SANT, 1 hit
SM00401, ZnF_GATA, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689, SSF46689, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51038, BAH, 1 hit
PS51156, ELM2, 1 hit
PS51293, SANT, 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>Sequences (2+)i

<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.

This entry describes 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P2R6-1) [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
MTADKDKDKD KEKDRDRDRD REREKRDKAR ESENSRPRRS CTLEGGAKNY 
        60         70         80         90        100
AESDHSEDED NDNNSATAEE STKKNKKKPP KKKSRYERTD TGEITSYITE 
       110        120        130        140        150
DDVVYRPGDC VYIESRRPNT PYFICSIQDF KLVHNSQACC RSPTPALCDP 
       160        170        180        190        200
PACSLPVASQ PPQHLSEAGR GPVGSKRDHL LMNVKWYYRQ SEVPDSVYQH 
       210        220        230        240        250
LVQDRHNEND SGRELVITDP VIKNRELFIS DYVDTYHAAA LRGKCNISHF 
       260        270        280        290        300
SDIFAAREFK ARVDSFFYIL GYNPETRRLN STQGEIRVGP SHQAKLPDLQ 
       310        320        330        340        350
PFPSPDGDTV TQHEELVWMP GVNDCDLLMY LRAARSMAAF AGMCDGGSTE 
       360        370        380        390        400
DGCVAASRDD TTLNALNTLH ESGYDAGKAL QRLVKKPVPK LIEKCWTEDE 
       410        420        430        440        450
VKRFVKGLRQ YGKNFFRIRK ELLPNKETGE LITFYYYWKK TPEAASSRAH 
       460        470        480        490        500
RRHRRQAVFR RIKTRTASTP VNTPSRPPSS EFLDLSSASE DDFDSEDSEQ 
       510        520        530        540        550
ELKGYACRHC FTTTSKDWHH GGRENILLCT DCRIHFKKYG ELPPIEKPVD 
       560        570        580        590        600
PPPFMFKPVK EEDDGLSGKH SMRTRRSRGS MSTLRSGRKK QPASPDGRTS 
       610        620        630        640        650
PINEDIRSSG RNSPSAASTS SNDSKAETVK KSAKKVKEEA SSPLKSNKRQ 
       660        670        680        690        700
REKVASDTEE ADRTSSKKTK TQEISRPNSP SEGEGESSDS RSVNDEGSSD 
       710        720        730        740        750
PKDIDQDNRS TSPSIPSPQD NESDSDSSAQ QQMLQAQPPA LQAPTGVTPA 
       760        770        780        790        800
PSSAPPGTPQ LPTPGPTPSA TAVPPQGSPT ASQAPNQPQA PTAPVPHTHI 
       810        820        830        840        850
QQAPALHPQR PPSPHPPPHP SPHPPLQPLT GSAGQPSAPS HAQPPLHGQG 
       860        870        880        890        900
PPGPHSLQAG PLLQHPGPPQ PFGLPPQASQ GQAPLGTSPA AAYPHTSLQL 
       910        920        930        940        950
PASQSALQSQ QPPREQPLPP APLAMPHIKP PPTTPIPQLP APQAHKHPPH 
       960        970        980        990       1000
LSGPSPFSMN ANLPPPPALK PLSSLSTHHP PSAHPPPLQL MPQSQPLPSS 
      1010       1020       1030       1040       1050
PAQPPGLTQS QNLPPPPASH PPTGLHQVAP QPPFAQHPFV PGGPPPITPP 
      1060       1070       1080       1090       1100
TCPSTSTPPA GPGTSAQPPC SGAAASGGSI AGGSSCPLPT VQIKEEALDD 
      1110       1120       1130       1140       1150
AEEPESPPPP PRSPSPEPTV VDTPSHASQS ARFYKHLDRG YNSCARTDLY 
      1160       1170       1180       1190       1200
FMPLAGSKLA KKREEAIEKA KREAEQKARE EREREKEKEK ERERERERER 
      1210       1220       1230       1240       1250
EAERAAKASS SAHEGRLSDP QLSGPGHMRP SFEPPPTTIA AVPPYIGPDT 
      1260       1270       1280       1290       1300
PALRTLSEYA RPHVMSPTNR NHPFYMPLNP TDPLLAYHMP GLYNVDPTIR 
      1310       1320       1330       1340       1350
ERELREREIR EREIRERELR ERMKPGFEVK PPELDPLHPA ANPMEHFARH 
      1360       1370       1380       1390       1400
SALTIPPTAG PHPFASFHPG LNPLERERLA LAGPQLRPEM SYPDRLAAER 
      1410       1420       1430       1440       1450
IHAERMASLT SDPLARLQMF NVTPHHHQHS HIHSHLHLHQ QDPLHQGSAG 
      1460       1470       1480       1490       1500
PVHPLVDPLT AGPHLARFPY PPGTLPNPLL GQPPHEHEML RHPVFGTPYP 
      1510       1520       1530       1540       1550
RDLPGAIPPP MSAAHQLQAM HAQSAELQRL AMEQQWLHGH PHMHGGHLPS 
      1560 
QEDYYSRLKK EGDKQL
Length:1,566
Mass (Da):172,424
Last modified:January 10, 2006 - 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:iECA4A22026E3E96F
GO
Isoform 2 (identifier: Q9P2R6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-554: Missing.

Show »
Length:1,012
Mass (Da):109,048
Checksum:i54B60DCBF0FB85FE
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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A590UJ84A0A590UJ84_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
783Annotation 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>
B1AKN3B1AKN3_HUMAN
Arginine-glutamic acid dipeptide (R...
RERE hCG_2008872
1,298Annotation 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>
H7BYW9H7BYW9_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
584Annotation 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>
A0A075B770A0A075B770_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
213Annotation 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>
A0A590UK57A0A590UK57_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
402Annotation 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>
D6RA28D6RA28_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
177Annotation 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>
K7EIQ4K7EIQ4_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
26Annotation 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>
H0Y975H0Y975_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
91Annotation 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>
K7EIE3K7EIE3_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
89Annotation 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>
K7EJQ1K7EJQ1_HUMAN
Arginine-glutamic acid dipeptide re...
RERE
35Annotation 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 AAC31120 differs from that shown. Reason: Frameshift.Curated
The sequence AAD27584 differs from that shown. Reason: Erroneous initiation.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 conflicti65S → G in BAA95898 (PubMed:10814707).Curated1
Sequence conflicti68A → T in BAA95898 (PubMed:10814707).Curated1
Sequence conflicti114 – 115ES → VC in BAA95898 (PubMed:10814707).Curated2
Sequence conflicti643P → L in AAC31120 (Ref. 3) Curated1
Sequence conflicti921A → G in BAA95898 (PubMed:10814707).Curated1
Sequence conflicti940P → A in BAA95898 (PubMed:10814707).Curated1
Sequence conflicti957F → L in AAD27584 (PubMed:10729226).Curated1
Sequence conflicti977T → K no nucleotide entry (PubMed:11331249).Curated1
Sequence conflicti984H → N no nucleotide entry (PubMed:11331249).Curated1
Sequence conflicti1009 – 1011QSQ → RTR in AAD27584 (PubMed:10729226).Curated3
Sequence conflicti1117E → D in AAD27584 (PubMed:10729226).Curated1
Sequence conflicti1272H → Q in AAD27584 (PubMed:10729226).Curated1
Sequence conflicti1489 – 1490ML → IV in BAA95898 (PubMed:10814707).Curated2
Sequence conflicti1529R → K in AAD27584 (PubMed:10729226).Curated1
Sequence conflicti1536W → C in AAD27584 (PubMed:10729226).Curated1
Sequence conflicti1543M → R in AAD27584 (PubMed:10729226).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077007471V → I in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs765016528Ensembl.1
Natural variantiVAR_0770081156G → R in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs766951273EnsemblClinVar.1
Natural variantiVAR_0770091262P → R in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs878853270EnsemblClinVar.1
Natural variantiVAR_0770101431H → Q in NEDBEH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs869312871EnsemblClinVar.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_0168781 – 554Missing in isoform 2. 1 PublicationAdd BLAST554

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
AB036737 mRNA Translation: BAA95898.1
AF016005 mRNA Translation: AAC31120.1 Frameshift.
AF041104 AF041103 Genomic DNA Translation: AAC28264.1
AL356072 Genomic DNA No translation available.
AL357713 Genomic DNA No translation available.
AL096855 Genomic DNA No translation available.
AB007927 mRNA Translation: BAA32303.3
AF118275 mRNA Translation: AAD27584.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41243.1 [Q9P2R6-2]
CCDS95.1 [Q9P2R6-1]

NCBI Reference Sequences

More...RefSeqi		NP_001036146.1, NM_001042681.1 [Q9P2R6-1]
NP_001036147.1, NM_001042682.1 [Q9P2R6-2]
NP_036234.3, NM_012102.3 [Q9P2R6-1]
XP_005263521.1, XM_005263464.2
XP_016856847.1, XM_017001358.1
XP_016856848.1, XM_017001359.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000337907; ENSP00000338629; ENSG00000142599 [Q9P2R6-1]
ENST00000400908; ENSP00000383700; ENSG00000142599 [Q9P2R6-1]
ENST00000476556; ENSP00000422246; ENSG00000142599 [Q9P2R6-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		473

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:473

UCSC genome browser

More...UCSCi		uc001apd.4, human [Q9P2R6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB036737 mRNA Translation: BAA95898.1
AF016005 mRNA Translation: AAC31120.1 Frameshift.
AF041104 AF041103 Genomic DNA Translation: AAC28264.1
AL356072 Genomic DNA No translation available.
AL357713 Genomic DNA No translation available.
AL096855 Genomic DNA No translation available.
AB007927 mRNA Translation: BAA32303.3
AF118275 mRNA Translation: AAD27584.1 Different initiation.
CCDSiCCDS41243.1 [Q9P2R6-2]
CCDS95.1 [Q9P2R6-1]
RefSeqiNP_001036146.1, NM_001042681.1 [Q9P2R6-1]
NP_001036147.1, NM_001042682.1 [Q9P2R6-2]
NP_036234.3, NM_012102.3 [Q9P2R6-1]
XP_005263521.1, XM_005263464.2
XP_016856847.1, XM_017001358.1
XP_016856848.1, XM_017001359.1

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
2YQKNMR-A392-441[»]
SMRiQ9P2R6
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi106963, 39 interactors
DIPiDIP-47606N
IntActiQ9P2R6, 31 interactors
MINTiQ9P2R6
STRINGi9606.ENSP00000338629

PTM databases

CarbonylDBiQ9P2R6
GlyGeniQ9P2R6, 2 sites, 1 O-linked glycan (2 sites)
iPTMnetiQ9P2R6
PhosphoSitePlusiQ9P2R6

Polymorphism and mutation databases

BioMutaiRERE
DMDMi85540730

Proteomic databases

EPDiQ9P2R6
jPOSTiQ9P2R6
MassIVEiQ9P2R6
MaxQBiQ9P2R6
PaxDbiQ9P2R6
PeptideAtlasiQ9P2R6
PRIDEiQ9P2R6
ProteomicsDBi83883 [Q9P2R6-1]
83884 [Q9P2R6-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		13215, 156 antibodies

The DNASU plasmid repository

More...DNASUi		473

Genome annotation databases

EnsembliENST00000337907; ENSP00000338629; ENSG00000142599 [Q9P2R6-1]
ENST00000400908; ENSP00000383700; ENSG00000142599 [Q9P2R6-1]
ENST00000476556; ENSP00000422246; ENSG00000142599 [Q9P2R6-2]
GeneIDi473
KEGGihsa:473
UCSCiuc001apd.4, human [Q9P2R6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		473
DisGeNETi473
EuPathDBiHostDB:ENSG00000142599.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		RERE
HGNCiHGNC:9965, RERE
HPAiENSG00000142599, Low tissue specificity
MalaCardsiRERE
MIMi605226, gene
616975, phenotype
neXtProtiNX_Q9P2R6
OpenTargetsiENSG00000142599
Orphaneti1606, 1p36 deletion syndrome
494344, RERE-related neurodevelopmental syndrome
PharmGKBiPA34332

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2133, Eukaryota
GeneTreeiENSGT00940000153615
HOGENOMiCLU_005292_1_0_1
InParanoidiQ9P2R6
OMAiPCRRLNS
PhylomeDBiQ9P2R6
TreeFamiTF328554

Enzyme and pathway databases

PathwayCommonsiQ9P2R6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		473, 13 hits in 869 CRISPR screens

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

More...ChiTaRSi		RERE, human
EvolutionaryTraceiQ9P2R6

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RERE

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

More...GenomeRNAii		473
PharosiQ9P2R6, Tbio

Protein Ontology

More...PROi		PR:Q9P2R6
RNActiQ9P2R6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000142599, Expressed in corpus callosum and 250 other tissues
ExpressionAtlasiQ9P2R6, baseline and differential
GenevisibleiQ9P2R6, HS

Family and domain databases

CDDicd00202, ZnF_GATA, 1 hit
InterProiView protein in InterPro
IPR002951, Atrophin-like
IPR001025, BAH_dom
IPR000949, ELM2_dom
IPR009057, Homeobox-like_sf
IPR001005, SANT/Myb
IPR017884, SANT_dom
IPR000679, Znf_GATA
PfamiView protein in Pfam
PF03154, Atrophin-1, 1 hit
PF01426, BAH, 1 hit
PF01448, ELM2, 1 hit
PF00320, GATA, 1 hit
SMARTiView protein in SMART
SM00439, BAH, 1 hit
SM01189, ELM2, 1 hit
SM00717, SANT, 1 hit
SM00401, ZnF_GATA, 1 hit
SUPFAMiSSF46689, SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS51038, BAH, 1 hit
PS51156, ELM2, 1 hit
PS51293, SANT, 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 nameiRERE_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: Q9P2R6
Secondary accession number(s): O43393
, O75046, O75359, Q5VXL9, Q6P6B9, Q9Y2W4
<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 10, 2006
Last sequence update: January 10, 2006
Last modified: December 2, 2020
This is version 184 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, Reference proteome

Documents

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