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Entry version 121 (03 Jul 2019)
Sequence version 3 (04 Nov 2008)
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Protein

Divergent protein kinase domain 2B

Gene

DIPK2B

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

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript 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 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:
Divergent protein kinase domain 2BCurated
Alternative name(s):
Deleted in autism-related protein 11 Publication
<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:DIPK2BImported
Synonyms:CXorf36, DIA1R1 Publication
ORF Names:UNQ1862/PRO3743
<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 X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25866 DIPK2B

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300959 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H7Y0

<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

<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

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

<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

Genetic variations in CXorf36 may be associated with susceptibility to autism.1 Publication

Keywords - Diseasei

Autism, Autism spectrum disorder

Organism-specific databases

DisGeNET

More...
DisGeNETi
79742

Open Targets

More...
OpenTargetsi
ENSG00000147113

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134972038

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CXorf36

Domain mapping of disease mutations (DMDM)

More...
DMDMi
212276509

<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 – 31Sequence analysisAdd BLAST31
<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_000001956832 – 433Divergent protein kinase domain 2BAdd BLAST402

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi100N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

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

More...
PaxDbi
Q9H7Y0

PeptideAtlas

More...
PeptideAtlasi
Q9H7Y0

PRoteomics IDEntifications database

More...
PRIDEi
Q9H7Y0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
81157
81158 [Q9H7Y0-2]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q9H7Y0-1 [Q9H7Y0-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H7Y0

<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
ENSG00000147113 Expressed in 154 organ(s), highest expression level in adrenal gland

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H7Y0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA002806

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122855, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000381086

<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

Belongs to the DIPK family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFGZ Eukaryota
ENOG4111BKG LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00520000055625

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112102

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H7Y0

Identification of Orthologs from Complete Genome Data

More...
OMAi
FYSAPPD

Database of Orthologous Groups

More...
OrthoDBi
1199714at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H7Y0

TreeFam database of animal gene trees

More...
TreeFami
TF353643

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR020519 DIPK2A/B
IPR022049 FAM69_kinase_dom

The PANTHER Classification System

More...
PANTHERi
PTHR32073 PTHR32073, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12260 PIP49_C, 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_length">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_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.

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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9H7Y0-1) [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
MEPQLGPEAA ALRPGWLALL LWVSALSCSF SLPASSLSSL VPQVRTSYNF
60 70 80 90 100
GRTFLGLDKC NACIGTSICK KFFKEEIRSD NWLASHLGLP PDSLLSYPAN
110 120 130 140 150
YSDDSKIWRP VEIFRLVSKY QNEISDRRIC ASASAPKTCS IERVLRKTER
160 170 180 190 200
FQKWLQAKRL TPDLVQGLAS PLLRCPSQRL LDRVVRRYAE VADAGSIFMD
210 220 230 240 250
HFTDRDKLRL LYTLAVNSHP ILLQIFPGAE GWPLPKYLGS CGRFLVSTST
260 270 280 290 300
RPLQEFYDAP PDQAADLAYQ LLGVLESLRS NDLNYFFYFT HIDAGMFGVF
310 320 330 340 350
NNGHLFIRDA SAVGVIDKQE GSQEANRAGE NKDIFSCLVS GCQAQLPSCE
360 370 380 390 400
SISEKQSLVL VCQKLLPRLL QGRFPSPVQD DIDSILVQCG DSIRPDPEVL
410 420 430
GAASQLKDIL RPLRTCDSRF AYRYPDCKYN DKF
Length:433
Mass (Da):48,555
Last modified:November 4, 2008 - 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:i547218A719CF7135
GO
Isoform 2 (identifier: Q9H7Y0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     167-182: GLASPLLRCPSQRLLD → DCHQGQRELKFLCMLR
     183-433: Missing.

Show »
Length:182
Mass (Da):20,671
Checksum:i3A3BA256073287BA
GO

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_047103128R → K2 PublicationsCorresponds to variant dbSNP:rs1132201Ensembl.1
Natural variantiVAR_047104146R → Q. Corresponds to variant dbSNP:rs9969Ensembl.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_035633167 – 182GLASP…QRLLD → DCHQGQRELKFLCMLR in isoform 2. 3 PublicationsAdd BLAST16
Alternative sequenceiVSP_035634183 – 433Missing in isoform 2. 3 PublicationsAdd BLAST251

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY358764 mRNA Translation: AAQ89124.1
AK024165 mRNA Translation: BAB14843.1
AC136488 Genomic DNA No translation available.
BC137528 mRNA Translation: AAI37529.1
BC137529 mRNA Translation: AAI37530.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14266.1 [Q9H7Y0-2]
CCDS48096.1 [Q9H7Y0-1]

NCBI Reference Sequences

More...
RefSeqi
NP_078965.2, NM_024689.2 [Q9H7Y0-2]
NP_789789.2, NM_176819.3 [Q9H7Y0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000377934; ENSP00000367168; ENSG00000147113 [Q9H7Y0-2]
ENST00000398000; ENSP00000381086; ENSG00000147113 [Q9H7Y0-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
79742

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:79742

UCSC genome browser

More...
UCSCi
uc004dgg.3 human [Q9H7Y0-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AY358764 mRNA Translation: AAQ89124.1
AK024165 mRNA Translation: BAB14843.1
AC136488 Genomic DNA No translation available.
BC137528 mRNA Translation: AAI37529.1
BC137529 mRNA Translation: AAI37530.1
CCDSiCCDS14266.1 [Q9H7Y0-2]
CCDS48096.1 [Q9H7Y0-1]
RefSeqiNP_078965.2, NM_024689.2 [Q9H7Y0-2]
NP_789789.2, NM_176819.3 [Q9H7Y0-1]

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

BioGridi122855, 1 interactor
STRINGi9606.ENSP00000381086

PTM databases

iPTMnetiQ9H7Y0

Polymorphism and mutation databases

BioMutaiCXorf36
DMDMi212276509

Proteomic databases

PaxDbiQ9H7Y0
PeptideAtlasiQ9H7Y0
PRIDEiQ9H7Y0
ProteomicsDBi81157
81158 [Q9H7Y0-2]
TopDownProteomicsiQ9H7Y0-1 [Q9H7Y0-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377934; ENSP00000367168; ENSG00000147113 [Q9H7Y0-2]
ENST00000398000; ENSP00000381086; ENSG00000147113 [Q9H7Y0-1]
GeneIDi79742
KEGGihsa:79742
UCSCiuc004dgg.3 human [Q9H7Y0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
79742
DisGeNETi79742

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CXorf36

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0022094
HGNCiHGNC:25866 DIPK2B
HPAiHPA002806
MIMi300959 gene
neXtProtiNX_Q9H7Y0
OpenTargetsiENSG00000147113
PharmGKBiPA134972038

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFGZ Eukaryota
ENOG4111BKG LUCA
GeneTreeiENSGT00520000055625
HOGENOMiHOG000112102
InParanoidiQ9H7Y0
OMAiFYSAPPD
OrthoDBi1199714at2759
PhylomeDBiQ9H7Y0
TreeFamiTF353643

Miscellaneous databases

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

More...
ChiTaRSi
CXorf36 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CXorf36

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

More...
GenomeRNAii
79742

Protein Ontology

More...
PROi
PR:Q9H7Y0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000147113 Expressed in 154 organ(s), highest expression level in adrenal gland
GenevisibleiQ9H7Y0 HS

Family and domain databases

InterProiView protein in InterPro
IPR020519 DIPK2A/B
IPR022049 FAM69_kinase_dom
PANTHERiPTHR32073 PTHR32073, 1 hit
PfamiView protein in Pfam
PF12260 PIP49_C, 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 nameiDIK2B_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: Q9H7Y0
Secondary accession number(s): A8MUU5, B2RPN7, Q6UWJ5
<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: July 5, 2005
Last sequence update: November 4, 2008
Last modified: July 3, 2019
This is version 121 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 X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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