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UniProtKB - Q9NW97 (TMM51_HUMAN)

Entry version 135 (07 Apr 2021)
Sequence version 1 (01 Oct 2000)
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Protein

Transmembrane protein 51

Gene

TMEM51

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NW97

<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:
Transmembrane protein 51
<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:TMEM51
Synonyms:C1orf72
<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

Human Gene Nomenclature Database

More...HGNCi		HGNC:25488, TMEM51

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NW97

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000171729.13

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei17 – 37HelicalSequence analysisAdd BLAST21
Transmembranei65 – 85HelicalSequence analysisAdd BLAST21

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Membrane

<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		55092

Open Targets

More...OpenTargetsi		ENSG00000171729

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142670767

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NW97, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TMEM51

Domain mapping of disease mutations (DMDM)

More...DMDMi		68053240

<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_00000725771 – 253Transmembrane protein 51Add BLAST253

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 residuei115PhosphoserineCombined sources1
Modified residuei182PhosphoserineCombined sources1
Modified residuei192PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NW97

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NW97

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NW97

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NW97

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

More...PaxDbi		Q9NW97

PeptideAtlas

More...PeptideAtlasi		Q9NW97

PRoteomics IDEntifications database

More...PRIDEi		Q9NW97

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		82915

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NW97

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

More...PhosphoSitePlusi		Q9NW97

<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		ENSG00000171729, Expressed in body of pancreas and 167 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NW97, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NW97, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000171729, 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 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120404, 68 interactors

Protein interaction database and analysis system

More...IntActi		Q9NW97, 54 interactors

Molecular INTeraction database

More...MINTi		Q9NW97

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000394899

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NW97, protein

<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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QU2P, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000009278

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_1115460_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NW97

Identification of Orthologs from Complete Genome Data

More...OMAi		AAQGNKT

Database of Orthologous Groups

More...OrthoDBi		1229287at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NW97

TreeFam database of animal gene trees

More...TreeFami		TF332361

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029265, TMEM51

The PANTHER Classification System

More...PANTHERi		PTHR16015, PTHR16015, 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>Sequence (1+)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 has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q9NW97-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMAQSKANGS HYALTAIGLG MLVLGVIMAM WNLVPGFSAA EKPTAQGSNK 
        60         70         80         90        100
TEVGGGILKS KTFSVAYVLV GAGVMLLLLS ICLSIRDKRK QRQGEDLAHV 
       110        120        130        140        150
QHPTGAGPHA QEEDSQEEEE EDEEAASRYY VPSYEEVMNT NYSEARGEEQ 
       160        170        180        190        200
NPRLSISLPS YESLTGLDET TPTSTRADVE ASPGNPPDRQ NSKLAKRLKP 
       210        220        230        240        250
LKVRRIKSEK LHLKDFRINL PDKNVPPPSI EPLTPPPQYD EVQEKAPDTR 

PPD
Length:253
Mass (Da):27,759
Last modified:October 1, 2000 - 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:iC0CC36D41C57157C
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q9BSA0Q9BSA0_HUMAN
TMEM51 protein
TMEM51 hCG_25381
135Annotation 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>
B1AP03B1AP03_HUMAN
Transmembrane protein 51
TMEM51
121Annotation 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>

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_05144634V → A. Corresponds to variant dbSNP:rs17405421Ensembl.1
Natural variantiVAR_05144792R → Q. Corresponds to variant dbSNP:rs3766158Ensembl.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
AK001061 mRNA Translation: BAA91486.1
AK292184 mRNA Translation: BAF84873.1
CR457120 mRNA Translation: CAG33401.1
AL391094 Genomic DNA No translation available.
CH471167 Genomic DNA Translation: EAW51711.1
BC000202 mRNA Translation: AAH00202.1
BC000593 mRNA Translation: AAH00593.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS154.1

NCBI Reference Sequences

More...RefSeqi		NP_001129688.1, NM_001136216.1
NP_001129689.1, NM_001136217.1
NP_001129690.1, NM_001136218.1
NP_001306594.1, NM_001319665.1
NP_060492.1, NM_018022.2
XP_005245976.1, XM_005245919.1
XP_011539978.1, XM_011541676.1
XP_016857079.1, XM_017001590.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000376008; ENSP00000365176; ENSG00000171729
ENST00000376014; ENSP00000365182; ENSG00000171729
ENST00000400796; ENSP00000383600; ENSG00000171729
ENST00000428417; ENSP00000394899; ENSG00000171729

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55092

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55092

UCSC genome browser

More...UCSCi		uc001avw.5, 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
AK001061 mRNA Translation: BAA91486.1
AK292184 mRNA Translation: BAF84873.1
CR457120 mRNA Translation: CAG33401.1
AL391094 Genomic DNA No translation available.
CH471167 Genomic DNA Translation: EAW51711.1
BC000202 mRNA Translation: AAH00202.1
BC000593 mRNA Translation: AAH00593.1
CCDSiCCDS154.1
RefSeqiNP_001129688.1, NM_001136216.1
NP_001129689.1, NM_001136217.1
NP_001129690.1, NM_001136218.1
NP_001306594.1, NM_001319665.1
NP_060492.1, NM_018022.2
XP_005245976.1, XM_005245919.1
XP_011539978.1, XM_011541676.1
XP_016857079.1, XM_017001590.1

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi120404, 68 interactors
IntActiQ9NW97, 54 interactors
MINTiQ9NW97
STRINGi9606.ENSP00000394899

PTM databases

iPTMnetiQ9NW97
PhosphoSitePlusiQ9NW97

Genetic variation databases

BioMutaiTMEM51
DMDMi68053240

Proteomic databases

EPDiQ9NW97
jPOSTiQ9NW97
MassIVEiQ9NW97
MaxQBiQ9NW97
PaxDbiQ9NW97
PeptideAtlasiQ9NW97
PRIDEiQ9NW97
ProteomicsDBi82915

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3057, 41 antibodies

Genome annotation databases

EnsembliENST00000376008; ENSP00000365176; ENSG00000171729
ENST00000376014; ENSP00000365182; ENSG00000171729
ENST00000400796; ENSP00000383600; ENSG00000171729
ENST00000428417; ENSP00000394899; ENSG00000171729
GeneIDi55092
KEGGihsa:55092
UCSCiuc001avw.5, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55092
DisGeNETi55092

GeneCards: human genes, protein and diseases

More...GeneCardsi		TMEM51
HGNCiHGNC:25488, TMEM51
HPAiENSG00000171729, Low tissue specificity
neXtProtiNX_Q9NW97
OpenTargetsiENSG00000171729
PharmGKBiPA142670767
VEuPathDBiHostDB:ENSG00000171729.13

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QU2P, Eukaryota
GeneTreeiENSGT00390000009278
HOGENOMiCLU_1115460_0_0_1
InParanoidiQ9NW97
OMAiAAQGNKT
OrthoDBi1229287at2759
PhylomeDBiQ9NW97
TreeFamiTF332361

Enzyme and pathway databases

PathwayCommonsiQ9NW97

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55092, 3 hits in 990 CRISPR screens

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

More...ChiTaRSi		TMEM51, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TMEM51_(gene)

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

More...GenomeRNAii		55092
PharosiQ9NW97, Tdark

Protein Ontology

More...PROi		PR:Q9NW97
RNActiQ9NW97, protein

Gene expression databases

BgeeiENSG00000171729, Expressed in body of pancreas and 167 other tissues
ExpressionAtlasiQ9NW97, baseline and differential
GenevisibleiQ9NW97, HS

Family and domain databases

InterProiView protein in InterPro
IPR029265, TMEM51
PANTHERiPTHR16015, PTHR16015, 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 nameiTMM51_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: Q9NW97
Secondary accession number(s): A8K819
<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: June 21, 2005
Last sequence update: October 1, 2000
Last modified: April 7, 2021
This is version 135 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 1
    Human chromosome 1: 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
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