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UniProtKB - Q96I36 (COX14_HUMAN)

Entry version 125 (02 Jun 2021)
Sequence version 1 (01 Dec 2001)
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Protein

Cytochrome c oxidase assembly protein COX14

Gene

COX14

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

Annotation score:4 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

Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Requires for coordination of the early steps of cytochrome c oxidase assembly with the synthesis of MT-CO1.

2 Publications

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

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96I36

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5628897, TP53 Regulates Metabolic Genes
R-HSA-611105, Respiratory electron transport

<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:
Cytochrome c oxidase assembly protein COX14
<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:COX14
Synonyms:C12orf62
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:28216, COX14

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614478, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96I36

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000178449.8

<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>Transmembranei15 – 37HelicalSequence analysisAdd BLAST23

<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, Mitochondrion

<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

Mitochondrial complex IV deficiency, nuclear type 10 (MC4DN10)1 Publication
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive mitochondrial disorder that manifests with neonatal neurological and respiratory distress. Clinical features include facial dysmorphism, hypotelorism, microphthalmia, an ogival palate, and severe metabolic acidosis. Death occurs in early infancy. Autoptic examination reveals brain hypertrophy, diffuse alteration of white matter myelination, numerous cavities in the parieto-occipital region, brainstem and cerebellum, as well as hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.
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_06703819M → I in MC4DN10. 1 PublicationCorresponds to variant dbSNP:rs587776904EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		84987

MalaCards human disease database

More...MalaCardsi		COX14
MIMi619053, phenotype

Open Targets

More...OpenTargetsi		ENSG00000178449

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

More...Orphaneti		254905, Isolated cytochrome C oxidase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA143485391

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96I36, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		COX14

Domain mapping of disease mutations (DMDM)

More...DMDMi		74732019

<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_00002636771 – 57Cytochrome c oxidase assembly protein COX14Add BLAST57

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96I36

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96I36

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96I36

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

More...PaxDbi		Q96I36

PeptideAtlas

More...PeptideAtlasi		Q96I36

PRoteomics IDEntifications database

More...PRIDEi		Q96I36

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		76810

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q96I36

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96I36

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

More...PhosphoSitePlusi		Q96I36

<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		ENSG00000178449, Expressed in quadriceps femoris and 216 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96I36, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000178449, 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

Along with COA3, core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex.

1 Publication

<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		124413, 146 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q96I36

Protein interaction database and analysis system

More...IntActi		Q96I36, 143 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000446524

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96I36, 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		Q96I36

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502SCZ6, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000002190

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_209431_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96I36

Identification of Orthologs from Complete Genome Data

More...OMAi		LCSARAY

Database of Orthologous Groups

More...OrthoDBi		1641370at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96I36

TreeFam database of animal gene trees

More...TreeFami		TF338398

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029208, COX14

The PANTHER Classification System

More...PANTHERi		PTHR36684, PTHR36684, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF14880, COX14, 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.

Q96I36-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPTGKQLADI GYKTFSTSMM LLTVYGGYLC SVRVYHYFQW RRAQRQAAEE 

QKTSGIM
Length:57
Mass (Da):6,600
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i974BBDFA78CF7C9A
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06703819M → I in MC4DN10. 1 PublicationCorresponds to variant dbSNP:rs587776904EnsemblClinVar.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
AK312180 mRNA Translation: BAG35113.1
AC025154 Genomic DNA No translation available.
AC074032 Genomic DNA No translation available.
CH471111 Genomic DNA Translation: EAW58130.1
BC007849 mRNA Translation: AAH07849.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8800.1

NCBI Reference Sequences

More...RefSeqi		NP_001244062.1, NM_001257133.1
NP_001244063.1, NM_001257134.1
NP_116290.1, NM_032901.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000317943; ENSP00000326052; ENSG00000178449
ENST00000548985; ENSP00000447776; ENSG00000178449
ENST00000550487; ENSP00000446524; ENSG00000178449
ENST00000550654; ENSP00000450331; ENSG00000178449

Database of genes from NCBI RefSeq genomes

More...GeneIDi		84987

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:84987

UCSC genome browser

More...UCSCi		uc001rwb.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
AK312180 mRNA Translation: BAG35113.1
AC025154 Genomic DNA No translation available.
AC074032 Genomic DNA No translation available.
CH471111 Genomic DNA Translation: EAW58130.1
BC007849 mRNA Translation: AAH07849.1
CCDSiCCDS8800.1
RefSeqiNP_001244062.1, NM_001257133.1
NP_001244063.1, NM_001257134.1
NP_116290.1, NM_032901.3

3D structure databases

SMRiQ96I36
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi124413, 146 interactors
CORUMiQ96I36
IntActiQ96I36, 143 interactors
STRINGi9606.ENSP00000446524

PTM databases

iPTMnetiQ96I36
PhosphoSitePlusiQ96I36

Genetic variation databases

BioMutaiCOX14
DMDMi74732019

Proteomic databases

jPOSTiQ96I36
MassIVEiQ96I36
MaxQBiQ96I36
PaxDbiQ96I36
PeptideAtlasiQ96I36
PRIDEiQ96I36
ProteomicsDBi76810
TopDownProteomicsiQ96I36

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		49669, 11 antibodies

The DNASU plasmid repository

More...DNASUi		84987

Genome annotation databases

EnsembliENST00000317943; ENSP00000326052; ENSG00000178449
ENST00000548985; ENSP00000447776; ENSG00000178449
ENST00000550487; ENSP00000446524; ENSG00000178449
ENST00000550654; ENSP00000450331; ENSG00000178449
GeneIDi84987
KEGGihsa:84987
UCSCiuc001rwb.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		84987
DisGeNETi84987

GeneCards: human genes, protein and diseases

More...GeneCardsi		COX14
HGNCiHGNC:28216, COX14
HPAiENSG00000178449, Low tissue specificity
MalaCardsiCOX14
MIMi614478, gene
619053, phenotype
neXtProtiNX_Q96I36
OpenTargetsiENSG00000178449
Orphaneti254905, Isolated cytochrome C oxidase deficiency
PharmGKBiPA143485391
VEuPathDBiHostDB:ENSG00000178449.8

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502SCZ6, Eukaryota
GeneTreeiENSGT00390000002190
HOGENOMiCLU_209431_0_0_1
InParanoidiQ96I36
OMAiLCSARAY
OrthoDBi1641370at2759
PhylomeDBiQ96I36
TreeFamiTF338398

Enzyme and pathway databases

PathwayCommonsiQ96I36
ReactomeiR-HSA-5628897, TP53 Regulates Metabolic Genes
R-HSA-611105, Respiratory electron transport

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		84987, 36 hits in 984 CRISPR screens

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

More...ChiTaRSi		COX14, human

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

More...GenomeRNAii		84987
PharosiQ96I36, Tbio

Protein Ontology

More...PROi		PR:Q96I36
RNActiQ96I36, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000178449, Expressed in quadriceps femoris and 216 other tissues
GenevisibleiQ96I36, HS

Family and domain databases

InterProiView protein in InterPro
IPR029208, COX14
PANTHERiPTHR36684, PTHR36684, 1 hit
PfamiView protein in Pfam
PF14880, COX14, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCOX14_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: Q96I36
Secondary accession number(s): B2R5G6
<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: December 12, 2006
Last sequence update: December 1, 2001
Last modified: June 2, 2021
This is version 125 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 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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