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UniProtKB - Q8NG68 (TTL_HUMAN)

Entry version 143 (02 Dec 2020)
Sequence version 2 (01 Mar 2004)
Previous versions | rss
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Protein

Tubulin--tyrosine ligase

Gene

TTL

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

Catalyzes the post-translational addition of a tyrosine to the C-terminal end of detyrosinated alpha-tubulin.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Protein has several cofactor binding sites:

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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

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

Molecular functionLigase
LigandATP-binding, Magnesium, Nucleotide-binding, Potassium

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		6.3.2.25, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8NG68

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8955332, Carboxyterminal post-translational modifications of tubulin

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q8NG68

<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:
Tubulin--tyrosine ligase (EC:6.3.2.25By similarity)
Short name:
TTL
<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:TTL
<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 2

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000114999.7

Human Gene Nomenclature Database

More...HGNCi		HGNC:21586, TTL

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608291, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NG68

<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>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		150465

Open Targets

More...OpenTargetsi		ENSG00000114999

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134934330

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NG68, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5549

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TTL

Domain mapping of disease mutations (DMDM)

More...DMDMi		47117358

<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_00002124341 – 377Tubulin--tyrosine ligaseAdd BLAST377

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8NG68

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8NG68

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NG68

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8NG68

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

More...PaxDbi		Q8NG68

PeptideAtlas

More...PeptideAtlasi		Q8NG68

PRoteomics IDEntifications database

More...PRIDEi		Q8NG68

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		73442

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NG68

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

More...PhosphoSitePlusi		Q8NG68

<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		ENSG00000114999, Expressed in dorsal root ganglion and 217 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NG68, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000114999, 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

Monomer.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		127297, 7 interactors

Protein interaction database and analysis system

More...IntActi		Q8NG68, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000233336

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q8NG68

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NG68, 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		Q8NG68

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini3 – 370TTLPROSITE-ProRule annotationAdd BLAST368

<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 tubulin--tyrosine ligase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2157, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161907

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_010131_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NG68

Identification of Orthologs from Complete Genome Data

More...OMAi		DDNSTVY

Database of Orthologous Groups

More...OrthoDBi		626048at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NG68

TreeFam database of animal gene trees

More...TreeFami		TF350555

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR004344, TTL/TTLL_fam

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03133, TTL, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51221, TTL, 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.

Q8NG68-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MYTFVVRDEN SSVYAEVSRL LLATGHWKRL RRDNPRFNLM LGERNRLPFG 
        60         70         80         90        100
RLGHEPGLVQ LVNYYRGADK LCRKASLVKL IKTSPELAES CTWFPESYVI 
       110        120        130        140        150
YPTNLKTPVA PAQNGIQPPI SNSRTDEREF FLASYNRKKE DGEGNVWIAK 
       160        170        180        190        200
SSAGAKGEGI LISSEASELL DFIDNQGQVH VIQKYLEHPL LLEPGHRKFD 
       210        220        230        240        250
IRSWVLVDHQ YNIYLYREGV LRTASEPYHV DNFQDKTCHL TNHCIQKEYS 
       260        270        280        290        300
KNYGKYEEGN EMFFKEFNQY LTSALNITLE SSILLQIKHI IRNCLLSVEP 
       310        320        330        340        350
AISTKHLPYQ SFQLFGFDFM VDEELKVWLI EVNGAPACAQ KLYAELCQGI 
       360        370 
VDIAISSVFP PPDVEQPQTQ PAAFIKL
Length:377
Mass (Da):43,212
Last modified:March 1, 2004 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7A13E2C28E1AD6EA
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 conflicti245I → V in CAD98091 (PubMed:17974005).Curated1

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
AB071393 mRNA Translation: BAC06832.2
AC012442 Genomic DNA Translation: AAX81998.1
CH471217 Genomic DNA Translation: EAW73589.1
BC036819 mRNA Translation: AAH36819.1
BX538316 mRNA Translation: CAD98091.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2096.1

NCBI Reference Sequences

More...RefSeqi		NP_714923.1, NM_153712.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000233336; ENSP00000233336; ENSG00000114999

Database of genes from NCBI RefSeq genomes

More...GeneIDi		150465

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:150465

UCSC genome browser

More...UCSCi		uc002thu.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
AB071393 mRNA Translation: BAC06832.2
AC012442 Genomic DNA Translation: AAX81998.1
CH471217 Genomic DNA Translation: EAW73589.1
BC036819 mRNA Translation: AAH36819.1
BX538316 mRNA Translation: CAD98091.1
CCDSiCCDS2096.1
RefSeqiNP_714923.1, NM_153712.4

3D structure databases

SMRiQ8NG68
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi127297, 7 interactors
IntActiQ8NG68, 5 interactors
STRINGi9606.ENSP00000233336

Chemistry databases

BindingDBiQ8NG68
ChEMBLiCHEMBL5549

PTM databases

iPTMnetiQ8NG68
PhosphoSitePlusiQ8NG68

Polymorphism and mutation databases

BioMutaiTTL
DMDMi47117358

Proteomic databases

EPDiQ8NG68
jPOSTiQ8NG68
MassIVEiQ8NG68
MaxQBiQ8NG68
PaxDbiQ8NG68
PeptideAtlasiQ8NG68
PRIDEiQ8NG68
ProteomicsDBi73442

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33272, 161 antibodies

The DNASU plasmid repository

More...DNASUi		150465

Genome annotation databases

EnsembliENST00000233336; ENSP00000233336; ENSG00000114999
GeneIDi150465
KEGGihsa:150465
UCSCiuc002thu.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		150465
DisGeNETi150465
EuPathDBiHostDB:ENSG00000114999.7

GeneCards: human genes, protein and diseases

More...GeneCardsi		TTL
HGNCiHGNC:21586, TTL
HPAiENSG00000114999, Low tissue specificity
MIMi608291, gene
neXtProtiNX_Q8NG68
OpenTargetsiENSG00000114999
PharmGKBiPA134934330

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2157, Eukaryota
GeneTreeiENSGT00940000161907
HOGENOMiCLU_010131_2_0_1
InParanoidiQ8NG68
OMAiDDNSTVY
OrthoDBi626048at2759
PhylomeDBiQ8NG68
TreeFamiTF350555

Enzyme and pathway databases

BRENDAi6.3.2.25, 2681
PathwayCommonsiQ8NG68
ReactomeiR-HSA-8955332, Carboxyterminal post-translational modifications of tubulin
SIGNORiQ8NG68

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		150465, 6 hits in 846 CRISPR screens

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

More...ChiTaRSi		TTL, human

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

More...GenomeRNAii		150465
PharosiQ8NG68, Tchem

Protein Ontology

More...PROi		PR:Q8NG68
RNActiQ8NG68, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000114999, Expressed in dorsal root ganglion and 217 other tissues
GenevisibleiQ8NG68, HS

Family and domain databases

InterProiView protein in InterPro
IPR004344, TTL/TTLL_fam
PfamiView protein in Pfam
PF03133, TTL, 1 hit
PROSITEiView protein in PROSITE
PS51221, TTL, 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 nameiTTL_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: Q8NG68
Secondary accession number(s): Q585T3, Q7Z302, Q8N426
<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: May 10, 2004
Last sequence update: March 1, 2004
Last modified: December 2, 2020
This is version 143 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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