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Protein

Pro-MCH

Gene

PMCH

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

MCH may act as a neurotransmitter or neuromodulator in a broad array of neuronal functions directed toward the regulation of goal-directed behavior, such as food intake, and general arousal. May also have a role in spermatocyte differentiation.

<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

GO - Biological processi

<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, Hormone, Neuropeptide
Biological processDifferentiation, Spermatogenesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
R-HSA-418594 G alpha (i) signalling events

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P20382

<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_and_taxonomy_section">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:
Pro-MCH
Cleaved into the following 3 chains:
Neuropeptide-glycine-glutamic acid
Short name:
NGE
Short name:
Neuropeptide G-E
Neuropeptide-glutamic acid-isoleucine
Short name:
NEI
Short name:
Neuropeptide E-I
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:PMCH
Synonyms:MCH
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000183395.4

Human Gene Nomenclature Database

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HGNCi
HGNC:9109 PMCH

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
176795 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P20382

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<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
5367

Open Targets

More...
OpenTargetsi
ENSG00000183395

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33435

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PMCH

Domain mapping of disease mutations (DMDM)

More...
DMDMi
229462960

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21Sequence analysisAdd BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001910422 – 165Pro-MCHAdd BLAST144
<p>This subsection of the ‘PTM / Processing’ section describes the position and length of an active peptide in the mature protein.<p><a href='/help/peptide' target='_top'>More...</a></p>PeptideiPRO_0000019105110 – 128Neuropeptide-glycine-glutamic acidSequence analysisAdd BLAST19
PeptideiPRO_0000019106131 – 143Neuropeptide-glutamic acid-isoleucineAdd BLAST13
PeptideiPRO_0000019107147 – 165Melanin-concentrating hormoneAdd BLAST19

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 residuei143Isoleucine amideBy similarity1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi153 ↔ 162By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Differentially processed in the brain and in peripheral organs producing two neuropeptides; NEI and MCH. A third peptide, NGE, may also be produced. Preferential processing in neurons by prohormone convertase 2 (PC2) generates NEI. MCH is generated in neurons of the lateral hypothalmic area by several prohormone convertases including PC1/3, PC2 and PC5/6.1 Publication

Keywords - PTMi

Amidation, Cleavage on pair of basic residues, Disulfide bond

Proteomic databases

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

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PaxDbi
P20382

PeptideAtlas

More...
PeptideAtlasi
P20382

PRoteomics IDEntifications database

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PRIDEi
P20382

ProteomicsDB human proteome resource

More...
ProteomicsDBi
53758

<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

Predominantly expressed in lateral hypothalamus, also detected in pallidum, neocortex and cerebellum. Also found in thymus, brown adipose tissue, duodenum and testis (spermatogonia, early spermatocytes and Sertoli cells). No expression in peripheral blood. In brain exclusively mature MCH and NEI peptides are present. In peripheral tissues a large product, encompassing the NEI and MCH domains of the precursor, is found predominantly.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000183395 Expressed in 79 organ(s), highest expression level in hypothalamus

CleanEx database of gene expression profiles

More...
CleanExi
HS_PMCH

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P20382 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA046055
HPA061884

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
111380, 14 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000332225

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P20382

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

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SMRi
P20382

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IW1Y Eukaryota
ENOG410XWB7 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000004984

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230520

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG052429

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P20382

KEGG Orthology (KO)

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KOi
K05229

Identification of Orthologs from Complete Genome Data

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OMAi
NGVQNIE

Database of Orthologous Groups

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OrthoDBi
EOG091G0R53

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P20382

TreeFam database of animal gene trees

More...
TreeFami
TF330944

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR005456 Prepro-melanin_conc_hormone

The PANTHER Classification System

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PANTHERi
PTHR12091 PTHR12091, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05824 Pro-MCH, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01641 PROMCHFAMILY

<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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

P20382-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAKMNLSSYI LILTFSLFSQ GILLSASKSI RNLDDDMVFN TFRLGKGFQK
60 70 80 90 100
EDTAEKSVIA PSLEQYKNDE SSFMNEEENK VSKNTGSKHN FLNHGLPLNL
110 120 130 140 150
AIKPYLALKG SVAFPAENGV QNTESTQEKR EIGDEENSAK FPIGRRDFDM
160
LRCMLGRVYR PCWQV
Length:165
Mass (Da):18,679
Last modified:May 5, 2009 - v3
<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:i2339E8938EBEC499
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti42F → S in AAB27493 (PubMed:8326825).Curated1
Sequence conflicti104 – 106PYL → GYQ in AAA63214 (PubMed:2149166).Curated3
Sequence conflicti113A → D in AAA63214 (PubMed:2149166).Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M57703 mRNA Translation: AAA63214.1
S63697 Genomic DNA Translation: AAB27493.1
CH471054 Genomic DNA Translation: EAW97693.1
BC018048 mRNA Translation: AAH18048.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31885.1

Protein sequence database of the Protein Information Resource

More...
PIRi
I52634

NCBI Reference Sequences

More...
RefSeqi
NP_002665.2, NM_002674.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.707990

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000329406; ENSP00000332225; ENSG00000183395

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5367

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5367

UCSC genome browser

More...
UCSCi
uc001tjl.4 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
M57703 mRNA Translation: AAA63214.1
S63697 Genomic DNA Translation: AAB27493.1
CH471054 Genomic DNA Translation: EAW97693.1
BC018048 mRNA Translation: AAH18048.1
CCDSiCCDS31885.1
PIRiI52634
RefSeqiNP_002665.2, NM_002674.3
UniGeneiHs.707990

3D structure databases

ProteinModelPortaliP20382
SMRiP20382
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111380, 14 interactors
STRINGi9606.ENSP00000332225

Polymorphism and mutation databases

BioMutaiPMCH
DMDMi229462960

Proteomic databases

PaxDbiP20382
PeptideAtlasiP20382
PRIDEiP20382
ProteomicsDBi53758

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5367
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000329406; ENSP00000332225; ENSG00000183395
GeneIDi5367
KEGGihsa:5367
UCSCiuc001tjl.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5367
DisGeNETi5367
EuPathDBiHostDB:ENSG00000183395.4

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PMCH
HGNCiHGNC:9109 PMCH
HPAiHPA046055
HPA061884
MIMi176795 gene
neXtProtiNX_P20382
OpenTargetsiENSG00000183395
PharmGKBiPA33435

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IW1Y Eukaryota
ENOG410XWB7 LUCA
GeneTreeiENSGT00390000004984
HOGENOMiHOG000230520
HOVERGENiHBG052429
InParanoidiP20382
KOiK05229
OMAiNGVQNIE
OrthoDBiEOG091G0R53
PhylomeDBiP20382
TreeFamiTF330944

Enzyme and pathway databases

ReactomeiR-HSA-375276 Peptide ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
R-HSA-418594 G alpha (i) signalling events
SIGNORiP20382

Miscellaneous databases

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

More...
GenomeRNAii
5367

Protein Ontology

More...
PROi
PR:P20382

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000183395 Expressed in 79 organ(s), highest expression level in hypothalamus
CleanExiHS_PMCH
GenevisibleiP20382 HS

Family and domain databases

InterProiView protein in InterPro
IPR005456 Prepro-melanin_conc_hormone
PANTHERiPTHR12091 PTHR12091, 1 hit
PfamiView protein in Pfam
PF05824 Pro-MCH, 1 hit
PRINTSiPR01641 PROMCHFAMILY

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiMCH_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: P20382
Secondary accession number(s): Q16044, Q8WVG0
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: May 5, 2009
Last modified: November 7, 2018
This is version 154 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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