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Entry version 153 (26 Feb 2020)
Sequence version 2 (23 Jan 2007)
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Protein

Ethylmalonyl-CoA decarboxylase

Gene

ECHDC1

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

Decarboxylates ethylmalonyl-CoA, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading (PubMed:22016388). Also has methylmalonyl-CoA decarboxylase activity at lower level (By similarity).By similarity1 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>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

<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:
Ethylmalonyl-CoA decarboxylase (EC:4.1.1.941 Publication)
Alternative name(s):
Enoyl-CoA hydratase domain-containing protein 1
Methylmalonyl-CoA decarboxylase
Short name:
MMCD
<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:ECHDC1
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21489 ECHDC1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
612136 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NTX5

<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

Cytoplasm

<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
55862

Open Targets

More...
OpenTargetsi
ENSG00000093144

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134871524

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NTX5 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ECHDC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
124007138

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002732461 – 307Ethylmalonyl-CoA decarboxylaseAdd BLAST307
Isoform 2 (identifier: Q9NTX5-2)
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
Isoform 5 (identifier: Q9NTX5-5)
Initiator methionineiRemovedCombined sources
Isoform 6 (identifier: Q9NTX5-6)
Initiator methionineiRemovedCombined sources

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 residuei217N6-acetyllysine; alternateBy similarity1
Modified residuei217N6-succinyllysine; alternateBy similarity1
Modified residuei301N6-succinyllysineBy similarity1
Isoform 2 (identifier: Q9NTX5-2)
Modified residuei2N-acetylalanineCombined sources1
Isoform 5 (identifier: Q9NTX5-5)
Modified residuei2N-acetylalanineCombined sources1
Isoform 6 (identifier: Q9NTX5-6)
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NTX5

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NTX5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NTX5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NTX5

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

More...
PaxDbi
Q9NTX5

PeptideAtlas

More...
PeptideAtlasi
Q9NTX5

PRoteomics IDEntifications database

More...
PRIDEi
Q9NTX5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
82636 [Q9NTX5-1]
82637 [Q9NTX5-2]
82638 [Q9NTX5-3]
82639 [Q9NTX5-4]
82640 [Q9NTX5-5]
82641 [Q9NTX5-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NTX5

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

More...
PhosphoSitePlusi
Q9NTX5

<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

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Bgeei
ENSG00000093144 Expressed in adipose tissue and 219 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NTX5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NTX5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA035445
HPA035446

<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)

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BioGridi
120964, 14 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NTX5, 12 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000436585

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NTX5 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

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SMRi
Q9NTX5

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

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1680 Eukaryota
COG1024 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00880000138038

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_2757120_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NTX5

KEGG Orthology (KO)

More...
KOi
K18426

Identification of Orthologs from Complete Genome Data

More...
OMAi
RFVHKHM

Database of Orthologous Groups

More...
OrthoDBi
1234730at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NTX5

TreeFam database of animal gene trees

More...
TreeFami
TF315986

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029045 ClpP/crotonase-like_dom_sf
IPR018376 Enoyl-CoA_hyd/isom_CS
IPR001753 Enoyl-CoA_hydra/iso

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00378 ECH_1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52096 SSF52096, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00166 ENOYL_COA_HYDRATASE, 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>Sequences (6+)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.

<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.

This entry describes 6 <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

This entry has 6 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NTX5-1) [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
MALKQEMAKS LLKTASLSGR TKLLHQTGLS LYSTSHGFYE EEVKKTLQQF
60 70 80 90 100
PGGSIDLQKE DNGIGILTLN NPSRMNAFSG VMMLQLLEKV IELENWTEGK
110 120 130 140 150
GLIVRGAKNT FSSGSDLNAV KSLGTPEDGM AVCMFMQNTL TRFMRLPLIS
160 170 180 190 200
VALVQGWALG GGAEFTTACD FRLMTPESKI RFVHKEMGII PSWGGTTRLV
210 220 230 240 250
EIIGSRQALK VLSGALKLDS KNALNIGMVE EVLQSSDETK SLEEAQEWLK
260 270 280 290 300
QFIQGPPEVI RALKKSVCSG RELYLEEALQ NERDLLGTVW GGPANLEAIA

KKGKFNK
Length:307
Mass (Da):33,698
Last modified:January 23, 2007 - 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:i77A09FDE065FE0A4
GO
Isoform 2 (identifier: Q9NTX5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: Missing.

Show »
Length:301
Mass (Da):32,997
Checksum:iFB931678ECFB2EDA
GO
Isoform 3 (identifier: Q9NTX5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-81: Missing.

Show »
Length:226
Mass (Da):24,859
Checksum:iA2C02B29FEC517AA
GO
Isoform 4 (identifier: Q9NTX5-4) [UniParc]FASTAAdd to basket
Also known as: HEL-S-76

The sequence of this isoform differs from the canonical sequence as follows:
     1-81: Missing.
     128-307: DGMAVCMFMQ...AIAKKGKFNK → TSFNKCCAGSRLGIGWRSRIYYSM

Show »
Length:70
Mass (Da):7,745
Checksum:i97019CB346725D86
GO
Isoform 5 (identifier: Q9NTX5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: Missing.
     128-307: DGMAVCMFMQ...AIAKKGKFNK → TSFNKCCAGSRLGIGWRSRIYYSM

Show »
Length:145
Mass (Da):15,883
Checksum:i25FBCA2D6665D089
GO
Isoform 6 (identifier: Q9NTX5-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: Missing.
     125-144: TPEDGMAVCMFMQNTLTRFM → LQR

Show »
Length:284
Mass (Da):31,089
Checksum:i667B60F58667A5C4
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 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YCS9H0YCS9_HUMAN
Ethylmalonyl-CoA decarboxylase
ECHDC1
100Annotation 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>
H0Y5L2H0Y5L2_HUMAN
Ethylmalonyl-CoA decarboxylase
ECHDC1
255Annotation 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>
E9PJS8E9PJS8_HUMAN
Ethylmalonyl-CoA decarboxylase
ECHDC1
151Annotation 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>
E9PPG7E9PPG7_HUMAN
Ethylmalonyl-CoA decarboxylase
ECHDC1
125Annotation 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>
E9PRU6E9PRU6_HUMAN
Ethylmalonyl-CoA decarboxylase
ECHDC1
135Annotation 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>
F2Z2D6F2Z2D6_HUMAN
Ethylmalonyl-CoA decarboxylase
ECHDC1
139Annotation 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>
E9PLY6E9PLY6_HUMAN
Ethylmalonyl-CoA decarboxylase
ECHDC1
179Annotation 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>
H0YD54H0YD54_HUMAN
Ethylmalonyl-CoA decarboxylase
ECHDC1
34Annotation 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>
J3KP84J3KP84_HUMAN
Ethylmalonyl-CoA decarboxylase
ECHDC1
125Annotation 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>
H0Y525H0Y525_HUMAN
Ethylmalonyl-CoA decarboxylase
ECHDC1
76Annotation 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>
There is more potential isoformShow all

<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 AAF67657 differs from that shown. Reason: Frameshift.Curated

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 conflicti243E → G in BAH14056 (PubMed:14702039).Curated1
Sequence conflicti263L → M in BAH14056 (PubMed:14702039).Curated1

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_0425811 – 81Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST81
Alternative sequenceiVSP_0224981 – 6Missing in isoform 2, isoform 5 and isoform 6. 3 Publications6
Alternative sequenceiVSP_042582125 – 144TPEDG…LTRFM → LQR in isoform 6. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_042583128 – 307DGMAV…GKFNK → TSFNKCCAGSRLGIGWRSRI YYSM in isoform 4 and isoform 5. 1 PublicationAdd BLAST180

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
EU668355 mRNA Translation: ACF94508.1
AL834469 mRNA Translation: CAD39128.1
AK303812 mRNA Translation: BAH14056.1
AF220192 mRNA Translation: AAF67657.1 Frameshift.
AL109939 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48107.1
BC003549 mRNA Translation: AAH03549.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34530.1 [Q9NTX5-5]
CCDS43504.1 [Q9NTX5-2]
CCDS47471.1 [Q9NTX5-1]
CCDS47472.1 [Q9NTX5-3]
CCDS55054.1 [Q9NTX5-4]

NCBI Reference Sequences

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RefSeqi
NP_001002030.1, NM_001002030.1 [Q9NTX5-2]
NP_001099014.1, NM_001105544.1 [Q9NTX5-3]
NP_001099015.1, NM_001105545.1 [Q9NTX5-4]
NP_001132982.1, NM_001139510.1 [Q9NTX5-1]
NP_060949.2, NM_018479.3 [Q9NTX5-5]
XP_005267104.1, XM_005267047.2 [Q9NTX5-2]
XP_005267105.1, XM_005267048.1 [Q9NTX5-2]
XP_005267107.1, XM_005267050.2 [Q9NTX5-5]
XP_016866545.1, XM_017011056.1 [Q9NTX5-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000368289; ENSP00000357272; ENSG00000093144 [Q9NTX5-5]
ENST00000368291; ENSP00000357274; ENSG00000093144 [Q9NTX5-5]
ENST00000430841; ENSP00000402492; ENSG00000093144 [Q9NTX5-2]
ENST00000454591; ENSP00000404866; ENSG00000093144 [Q9NTX5-3]
ENST00000454859; ENSP00000401751; ENSG00000093144 [Q9NTX5-2]
ENST00000474289; ENSP00000434908; ENSG00000093144 [Q9NTX5-2]
ENST00000528402; ENSP00000436109; ENSG00000093144 [Q9NTX5-4]
ENST00000531967; ENSP00000436585; ENSG00000093144 [Q9NTX5-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55862

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55862

UCSC genome browser

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UCSCi
uc003qax.4 human [Q9NTX5-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
EU668355 mRNA Translation: ACF94508.1
AL834469 mRNA Translation: CAD39128.1
AK303812 mRNA Translation: BAH14056.1
AF220192 mRNA Translation: AAF67657.1 Frameshift.
AL109939 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48107.1
BC003549 mRNA Translation: AAH03549.1
CCDSiCCDS34530.1 [Q9NTX5-5]
CCDS43504.1 [Q9NTX5-2]
CCDS47471.1 [Q9NTX5-1]
CCDS47472.1 [Q9NTX5-3]
CCDS55054.1 [Q9NTX5-4]
RefSeqiNP_001002030.1, NM_001002030.1 [Q9NTX5-2]
NP_001099014.1, NM_001105544.1 [Q9NTX5-3]
NP_001099015.1, NM_001105545.1 [Q9NTX5-4]
NP_001132982.1, NM_001139510.1 [Q9NTX5-1]
NP_060949.2, NM_018479.3 [Q9NTX5-5]
XP_005267104.1, XM_005267047.2 [Q9NTX5-2]
XP_005267105.1, XM_005267048.1 [Q9NTX5-2]
XP_005267107.1, XM_005267050.2 [Q9NTX5-5]
XP_016866545.1, XM_017011056.1 [Q9NTX5-3]

3D structure databases

SMRiQ9NTX5
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120964, 14 interactors
IntActiQ9NTX5, 12 interactors
STRINGi9606.ENSP00000436585

PTM databases

iPTMnetiQ9NTX5
PhosphoSitePlusiQ9NTX5

Polymorphism and mutation databases

BioMutaiECHDC1
DMDMi124007138

Proteomic databases

EPDiQ9NTX5
jPOSTiQ9NTX5
MassIVEiQ9NTX5
MaxQBiQ9NTX5
PaxDbiQ9NTX5
PeptideAtlasiQ9NTX5
PRIDEiQ9NTX5
ProteomicsDBi82636 [Q9NTX5-1]
82637 [Q9NTX5-2]
82638 [Q9NTX5-3]
82639 [Q9NTX5-4]
82640 [Q9NTX5-5]
82641 [Q9NTX5-6]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
55862

Genome annotation databases

EnsembliENST00000368289; ENSP00000357272; ENSG00000093144 [Q9NTX5-5]
ENST00000368291; ENSP00000357274; ENSG00000093144 [Q9NTX5-5]
ENST00000430841; ENSP00000402492; ENSG00000093144 [Q9NTX5-2]
ENST00000454591; ENSP00000404866; ENSG00000093144 [Q9NTX5-3]
ENST00000454859; ENSP00000401751; ENSG00000093144 [Q9NTX5-2]
ENST00000474289; ENSP00000434908; ENSG00000093144 [Q9NTX5-2]
ENST00000528402; ENSP00000436109; ENSG00000093144 [Q9NTX5-4]
ENST00000531967; ENSP00000436585; ENSG00000093144 [Q9NTX5-1]
GeneIDi55862
KEGGihsa:55862
UCSCiuc003qax.4 human [Q9NTX5-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55862
DisGeNETi55862

GeneCards: human genes, protein and diseases

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GeneCardsi
ECHDC1
HGNCiHGNC:21489 ECHDC1
HPAiHPA035445
HPA035446
MIMi612136 gene
neXtProtiNX_Q9NTX5
OpenTargetsiENSG00000093144
PharmGKBiPA134871524

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1680 Eukaryota
COG1024 LUCA
GeneTreeiENSGT00880000138038
HOGENOMiCLU_2757120_0_0_1
InParanoidiQ9NTX5
KOiK18426
OMAiRFVHKHM
OrthoDBi1234730at2759
PhylomeDBiQ9NTX5
TreeFamiTF315986

Miscellaneous databases

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

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ChiTaRSi
ECHDC1 human

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

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GenomeRNAii
55862
PharosiQ9NTX5 Tbio

Protein Ontology

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PROi
PR:Q9NTX5
RNActiQ9NTX5 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000093144 Expressed in adipose tissue and 219 other tissues
ExpressionAtlasiQ9NTX5 baseline and differential
GenevisibleiQ9NTX5 HS

Family and domain databases

InterProiView protein in InterPro
IPR029045 ClpP/crotonase-like_dom_sf
IPR018376 Enoyl-CoA_hyd/isom_CS
IPR001753 Enoyl-CoA_hydra/iso
PfamiView protein in Pfam
PF00378 ECH_1, 1 hit
SUPFAMiSSF52096 SSF52096, 1 hit
PROSITEiView protein in PROSITE
PS00166 ENOYL_COA_HYDRATASE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiECHD1_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: Q9NTX5
Secondary accession number(s): A6NFJ5
, B7Z8S0, E9PEN7, E9PR31, F8W851, Q5TEF6, Q5TEF7, Q5TEG0, Q5TEG4, Q9NZ30, V9HW18
<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 23, 2007
Last sequence update: January 23, 2007
Last modified: February 26, 2020
This is version 153 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 chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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