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Entry version 106 (17 Jun 2020)
Sequence version 2 (05 Oct 2010)
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Protein

Protein ABHD15

Gene

ABHD15

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 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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei360Charge relay systemBy similarity1
Active sitei391Charge relay systemBy similarity1

<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 functionHydrolase

Protein family/group databases

ESTHER database of the Alpha/Beta-hydrolase fold superfamily of proteins

More...
ESTHERi
human-ABHD15 abh_upf0017

<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:
Protein ABHD15Curated (EC:3.1.1.-)
Alternative name(s):
Alpha/beta hydrolase domain-containing protein 15Curated
Short name:
Abhydrolase domain-containing protein 15Imported
<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:ABHD15Imported
ORF Names:UNQ6510/PRO21435
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000168792.4

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26971 ABHD15

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6UXT9

<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

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

Open Targets

More...
OpenTargetsi
ENSG00000168792

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164714659

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6UXT9 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ABHD15

Domain mapping of disease mutations (DMDM)

More...
DMDMi
308153403

<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 – 23Sequence analysisAdd BLAST23
<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_000034539524 – 468Protein ABHD15Add BLAST445

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 residuei434PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6UXT9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6UXT9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6UXT9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6UXT9

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

More...
PaxDbi
Q6UXT9

PeptideAtlas

More...
PeptideAtlasi
Q6UXT9

PRoteomics IDEntifications database

More...
PRIDEi
Q6UXT9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
67657

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6UXT9

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

More...
PhosphoSitePlusi
Q6UXT9

<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
ENSG00000168792 Expressed in liver and 128 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6UXT9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000168792 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%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
125492, 11 interactors

Protein interaction database and analysis system

More...
IntActi
Q6UXT9, 15 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000302657

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6UXT9 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<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
ENOG410INFX Eukaryota
ENOG410Z0Y9 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182902

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_032487_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6UXT9

KEGG Orthology (KO)

More...
KOi
K13707

Identification of Orthologs from Complete Genome Data

More...
OMAi
GLPWLYE

Database of Orthologous Groups

More...
OrthoDBi
1162019at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6UXT9

TreeFam database of animal gene trees

More...
TreeFami
TF332985

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.1820, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029058 AB_hydrolase
IPR022742 Hydrolase_4

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12146 Hydrolase_4, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53474 SSF53474, 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.

<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 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.

Q6UXT9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPPWGAALAL ILAVLALLGL LGPRLRGPWG RAVGERTLPG AQDRDDGEEA
60 70 80 90 100
DGGGPADQFS DGREPLPGGC SLVCKPSALA QCLLRALRRS EALEAGPRSW
110 120 130 140 150
FSGPHLQTLC HFVLPVAPGP ELAREYLQLA DDGLVALDWV VGPCVRGRRI
160 170 180 190 200
TSAGGLPAVL LVIPNAWGRL TRNVLGLCLL ALERGYYPVI FHRRGHHGCP
210 220 230 240 250
LVSPRLQPFG DPSDLKEAVT YIRFRHPAAP LFAVSEGSGS ALLLSYLGEC
260 270 280 290 300
GSSSYVTGAA CISPVLRCRE WFEAGLPWPY ERGFLLHQKI ALSRYATALE
310 320 330 340 350
DTVDTSRLFR SRSLREFEEA LFCHTKSFPI SWDTYWDRND PLRDVDEAAV
360 370 380 390 400
PVLCICSADD PVCGPPDHTL TTELFHSNPY FFLLLSRHGG HCGFLRQEPL
410 420 430 440 450
PAWSHEVILE SFRALTEFFR TEERIKGLSR HRASFLGGRR RGGALQRREV
460
SSSSNLEEIF NWKRSYTR
Length:468
Mass (Da):51,771
Last modified:October 5, 2010 - 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:iA910F5F4294B0CC3
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 conflicti287H → Y in AAH12476 (PubMed:15489334).Curated1

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_045821334T → A2 PublicationsCorresponds to variant dbSNP:rs542939Ensembl.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
AY358212 mRNA Translation: AAQ88579.1
AC104564 Genomic DNA No translation available.
BC012476 mRNA Translation: AAH12476.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32602.1

NCBI Reference Sequences

More...
RefSeqi
NP_937790.2, NM_198147.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000307201; ENSP00000302657; ENSG00000168792

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
116236

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:116236

UCSC genome browser

More...
UCSCi
uc002hed.3 human

Keywords - Coding sequence diversityi

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
AY358212 mRNA Translation: AAQ88579.1
AC104564 Genomic DNA No translation available.
BC012476 mRNA Translation: AAH12476.2
CCDSiCCDS32602.1
RefSeqiNP_937790.2, NM_198147.2

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

BioGRIDi125492, 11 interactors
IntActiQ6UXT9, 15 interactors
STRINGi9606.ENSP00000302657

Protein family/group databases

ESTHERihuman-ABHD15 abh_upf0017

PTM databases

iPTMnetiQ6UXT9
PhosphoSitePlusiQ6UXT9

Polymorphism and mutation databases

BioMutaiABHD15
DMDMi308153403

Proteomic databases

EPDiQ6UXT9
jPOSTiQ6UXT9
MassIVEiQ6UXT9
MaxQBiQ6UXT9
PaxDbiQ6UXT9
PeptideAtlasiQ6UXT9
PRIDEiQ6UXT9
ProteomicsDBi67657

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
2595 46 antibodies

Genome annotation databases

EnsembliENST00000307201; ENSP00000302657; ENSG00000168792
GeneIDi116236
KEGGihsa:116236
UCSCiuc002hed.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
116236
EuPathDBiHostDB:ENSG00000168792.4

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ABHD15
HGNCiHGNC:26971 ABHD15
HPAiENSG00000168792 Low tissue specificity
neXtProtiNX_Q6UXT9
OpenTargetsiENSG00000168792
PharmGKBiPA164714659

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410INFX Eukaryota
ENOG410Z0Y9 LUCA
GeneTreeiENSGT00950000182902
HOGENOMiCLU_032487_3_0_1
InParanoidiQ6UXT9
KOiK13707
OMAiGLPWLYE
OrthoDBi1162019at2759
PhylomeDBiQ6UXT9
TreeFamiTF332985

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
116236 9 hits in 787 CRISPR screens

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

More...
ChiTaRSi
ABHD15 human

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

More...
GenomeRNAii
116236
PharosiQ6UXT9 Tdark

Protein Ontology

More...
PROi
PR:Q6UXT9
RNActiQ6UXT9 protein

Gene expression databases

BgeeiENSG00000168792 Expressed in liver and 128 other tissues
GenevisibleiQ6UXT9 HS

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR022742 Hydrolase_4
PfamiView protein in Pfam
PF12146 Hydrolase_4, 1 hit
SUPFAMiSSF53474 SSF53474, 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 nameiABH15_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: Q6UXT9
Secondary accession number(s): Q96EC5
<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: July 22, 2008
Last sequence update: October 5, 2010
Last modified: June 17, 2020
This is version 106 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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