Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 121 (02 Jun 2021)
Sequence version 2 (15 Jan 2008)
Previous versions | rss
Add a publicationFeedback
Protein

2-hydroxyacyl-CoA lyase 2

Gene

ILVBL

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

Annotation score:5 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

Endoplasmic reticulum 2-OH acyl-CoA lyase involved in the cleavage (C1 removal) reaction in the fatty acid alpha-oxydation in a thiamine pyrophosphate (TPP)-dependent manner. Involved in the phytosphingosine degradation pathway.

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:

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei98Thiamine pyrophosphateBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi521MagnesiumBy similarity1
Metal bindingi547MagnesiumBy 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 functionLyase
Biological processFatty acid metabolism, Lipid metabolism
LigandMagnesium, Metal-binding, Thiamine pyrophosphate

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
A1L0T0

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001821

<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:
2-hydroxyacyl-CoA lyase 21 Publication (EC:4.1.2.-1 Publication)
Alternative name(s):
Acetolactate synthase-like protein
IlvB-like protein
<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:ILVBLImported
Synonyms:AHAS, HACL21 Publication
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6041, ILVBL

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605770, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_A1L0T0

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000105135.15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei13 – 33HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<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
10994

Open Targets

More...
OpenTargetsi
ENSG00000105135

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29857

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
A1L0T0, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ILVBL

<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_00003148251 – 6322-hydroxyacyl-CoA lyase 2Add BLAST632

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
A1L0T0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
A1L0T0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
A1L0T0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
A1L0T0

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

More...
PaxDbi
A1L0T0

PeptideAtlas

More...
PeptideAtlasi
A1L0T0

PRoteomics IDEntifications database

More...
PRIDEi
A1L0T0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
129

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
A1L0T0

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
A1L0T0

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

More...
PhosphoSitePlusi
A1L0T0

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
A1L0T0

<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

Expressed in all tissues tested, with highest expression in heart, pancreas and placenta.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000105135, Expressed in stomach and 224 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
A1L0T0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
A1L0T0, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000105135, 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 binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
116190, 89 interactors

Protein interaction database and analysis system

More...
IntActi
A1L0T0, 38 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000263383

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
A1L0T0, 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
A1L0T0

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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni470 – 550Thiamine pyrophosphate bindingBy similarityAdd BLAST81

<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 TPP enzyme family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1185, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158035

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_013748_3_3_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
A1L0T0

Identification of Orthologs from Complete Genome Data

More...
OMAi
HCVDELM

Database of Orthologous Groups

More...
OrthoDBi
1132247at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
A1L0T0

TreeFam database of animal gene trees

More...
TreeFami
TF354221

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029035, DHS-like_NAD/FAD-binding_dom
IPR029061, THDP-binding
IPR012000, Thiamin_PyroP_enz_cen_dom
IPR012001, Thiamin_PyroP_enz_TPP-bd_dom
IPR000399, TPP-bd_CS
IPR011766, TPP_enzyme-bd_C

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02775, TPP_enzyme_C, 1 hit
PF00205, TPP_enzyme_M, 1 hit
PF02776, TPP_enzyme_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52467, SSF52467, 1 hit
SSF52518, SSF52518, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00187, TPP_ENZYMES, 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>Sequence (1+)i

<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.

This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All

A1L0T0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
METPAAAAPA GSLFPSFLLL ACGTLVAALL GAAHRLGLFY QLLHKVDKAS
60 70 80 90 100
VRHGGENVAA VLRAHGVRFI FTLVGGHISP LLVACEKLGI RVVDTRHEVT
110 120 130 140 150
AVFAADAMAR LSGTVGVAAV TAGPGLTNTV TAVKNAQMAQ SPILLLGGAA
160 170 180 190 200
STLLQNRGAL QAVDQLSLFR PLCKFCVSVR RVRDIVPTLR AAMAAAQSGT
210 220 230 240 250
PGPVFVELPV DVLYPYFMVQ KEMVPAKPPK GLVGRVVSWY LENYLANLFA
260 270 280 290 300
GAWEPQPEGP LPLDIPQASP QQVQRCVEIL SRAKRPLMVL GSQALLTPTS
310 320 330 340 350
ADKLRAAVET LGVPCFLGGM ARGLLGRNHP LHIRENRSAA LKKADVIVLA
360 370 380 390 400
GTVCDFRLSY GRVLSHSSKI IIVNRNREEM LLNSDIFWKP QEAVQGDVGS
410 420 430 440 450
FVLKLVEGLQ GQTWAPDWVE ELREADRQKE QTFREKAAMP VAQHLNPVQV
460 470 480 490 500
LQLVEETLPD NSILVVDGGD FVGTAAHLVQ PRGPLRWLDP GAFGTLGVGA
510 520 530 540 550
GFALGAKLCR PDAEVWCLFG DGAFGYSLIE FDTFVRHKIP VMALVGNDAG
560 570 580 590 600
WTQISREQVP SLGSNVACGL AYTDYHKAAM GLGARGLLLS RENEDQVVKV
610 620 630
LHDAQQQCRD GHPVVVNILI GRTDFRDGSI AV
Length:632
Mass (Da):67,868
Last modified:January 15, 2008 - 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:i893F539FC5F1B2EC
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R026M0R026_HUMAN
2-hydroxyacyl-CoA lyase 2
ILVBL
525Annotation score:

Annotation score:2 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>
E9PJS0E9PJS0_HUMAN
2-hydroxyacyl-CoA lyase 2
ILVBL
262Annotation score:

Annotation score:1 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>
E9PL44E9PL44_HUMAN
2-hydroxyacyl-CoA lyase 2
ILVBL
166Annotation score:

Annotation score:1 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>
E9PNL1E9PNL1_HUMAN
2-hydroxyacyl-CoA lyase 2
ILVBL
52Annotation score:

Annotation score:1 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>
M0QZX5M0QZX5_HUMAN
2-hydroxyacyl-CoA lyase 2
ILVBL
229Annotation score:

Annotation score:1 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>
M0R1B5M0R1B5_HUMAN
2-hydroxyacyl-CoA lyase 2
ILVBL
165Annotation score:

Annotation score:1 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC18916 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAH00109 differs from that shown. Aberrant splicing.Curated
The sequence AAI26914 differs from that shown. Sequence of unknown origin at the C-terminus.Curated
The sequence AAI26914 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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_038064374N → D1 PublicationCorresponds to variant dbSNP:rs17856373Ensembl.1
Natural variantiVAR_061901510R → Q. Corresponds to variant dbSNP:rs35548653Ensembl.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
U61263 mRNA Translation: AAC50934.1
AC003956 Genomic DNA Translation: AAB94632.1
AC004794 Genomic DNA Translation: AAC18916.1 Sequence problems.
CH471106 Genomic DNA Translation: EAW84464.1
BC000109 mRNA Translation: AAH00109.1 Sequence problems.
BC011722 mRNA Translation: AAH11722.1
BC011761 mRNA Translation: AAH11761.1
BC126913 mRNA Translation: AAI26914.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12325.1

NCBI Reference Sequences

More...
RefSeqi
NP_006835.2, NM_006844.4
XP_005259774.1, XM_005259717.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000263383; ENSP00000263383; ENSG00000105135

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
10994

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10994

UCSC genome browser

More...
UCSCi
uc002nam.5, 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
U61263 mRNA Translation: AAC50934.1
AC003956 Genomic DNA Translation: AAB94632.1
AC004794 Genomic DNA Translation: AAC18916.1 Sequence problems.
CH471106 Genomic DNA Translation: EAW84464.1
BC000109 mRNA Translation: AAH00109.1 Sequence problems.
BC011722 mRNA Translation: AAH11722.1
BC011761 mRNA Translation: AAH11761.1
BC126913 mRNA Translation: AAI26914.1 Sequence problems.
CCDSiCCDS12325.1
RefSeqiNP_006835.2, NM_006844.4
XP_005259774.1, XM_005259717.4

3D structure databases

SMRiA1L0T0
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi116190, 89 interactors
IntActiA1L0T0, 38 interactors
STRINGi9606.ENSP00000263383

Chemistry databases

SwissLipidsiSLP:000001821

PTM databases

iPTMnetiA1L0T0
PhosphoSitePlusiA1L0T0
SwissPalmiA1L0T0

Genetic variation databases

BioMutaiILVBL

Proteomic databases

EPDiA1L0T0
jPOSTiA1L0T0
MassIVEiA1L0T0
MaxQBiA1L0T0
PaxDbiA1L0T0
PeptideAtlasiA1L0T0
PRIDEiA1L0T0
ProteomicsDBi129
TopDownProteomicsiA1L0T0

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
26957, 312 antibodies

The DNASU plasmid repository

More...
DNASUi
10994

Genome annotation databases

EnsembliENST00000263383; ENSP00000263383; ENSG00000105135
GeneIDi10994
KEGGihsa:10994
UCSCiuc002nam.5, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10994
DisGeNETi10994

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ILVBL
HGNCiHGNC:6041, ILVBL
HPAiENSG00000105135, Low tissue specificity
MIMi605770, gene
neXtProtiNX_A1L0T0
OpenTargetsiENSG00000105135
PharmGKBiPA29857
VEuPathDBiHostDB:ENSG00000105135.15

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1185, Eukaryota
GeneTreeiENSGT00940000158035
HOGENOMiCLU_013748_3_3_1
InParanoidiA1L0T0
OMAiHCVDELM
OrthoDBi1132247at2759
PhylomeDBiA1L0T0
TreeFamiTF354221

Enzyme and pathway databases

PathwayCommonsiA1L0T0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
10994, 8 hits in 995 CRISPR screens

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

More...
ChiTaRSi
ILVBL, human

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

More...
GenomeRNAii
10994
PharosiA1L0T0, Tbio

Protein Ontology

More...
PROi
PR:A1L0T0
RNActiA1L0T0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000105135, Expressed in stomach and 224 other tissues
ExpressionAtlasiA1L0T0, baseline and differential
GenevisibleiA1L0T0, HS

Family and domain databases

InterProiView protein in InterPro
IPR029035, DHS-like_NAD/FAD-binding_dom
IPR029061, THDP-binding
IPR012000, Thiamin_PyroP_enz_cen_dom
IPR012001, Thiamin_PyroP_enz_TPP-bd_dom
IPR000399, TPP-bd_CS
IPR011766, TPP_enzyme-bd_C
PfamiView protein in Pfam
PF02775, TPP_enzyme_C, 1 hit
PF00205, TPP_enzyme_M, 1 hit
PF02776, TPP_enzyme_N, 1 hit
SUPFAMiSSF52467, SSF52467, 1 hit
SSF52518, SSF52518, 2 hits
PROSITEiView protein in PROSITE
PS00187, TPP_ENZYMES, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHACL2_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: A1L0T0
Secondary accession number(s): O43341
, Q96F08, Q99651, Q9BWN5, Q9UEB2
<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: January 15, 2008
Last sequence update: January 15, 2008
Last modified: June 2, 2021
This is version 121 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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again