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 128 (16 Oct 2019)
Sequence version 1 (07 Dec 2004)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Mitochondrial amidoxime-reducing component 1

Gene

MARC1

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

As a component of an N-hydroxylated prodrug-converting complex required to reduce N-hydroxylated prodrugs, such as benzamidoxime. Also able to reduce N(omega)-hydroxy-L-arginine (NOHA) and N(omega)-hydroxy-N(delta)-methyl-L-arginine (NHAM) into L-arginine and N(delta)-methyl-L-arginine, respectively.1 Publication

<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

Mo-molybdopterin2 PublicationsNote: Binds 1 Mo-molybdopterin (Mo-MPT) cofactor per subunit.2 Publications

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=180 µM for benzamidoxime1 Publication
  2. KM=86 µM for NOHA1 Publication
  3. KM=272 µM for NHAM1 Publication
  1. Vmax=34 nmol/min/mg enzyme toward benzamidoxime1 Publication
  2. Vmax=105 nmol/min/mg enzyme toward benzamidoxime (at pH 6.0 and 37 degrees Celsius)1 Publication
  3. Vmax=55 nmol/min/mg enzyme toward NOHA1 Publication
  4. Vmax=43 nmol/min/mg enzyme toward NHAM1 Publication

<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 functionOxidoreductase
LigandMolybdenum

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-211945 Phase I - Functionalization of compounds

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Mitochondrial amidoxime-reducing component 1 (EC:1.-.-.-)
Short name:
mARC1
Alternative name(s):
Molybdenum cofactor sulfurase C-terminal domain-containing protein 1
Short name:
MOSC domain-containing protein 1
Short name:
Moco sulfurase C-terminal domain-containing protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MARC1
Synonyms:MOSC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26189 MARC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614126 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5VT66

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini2 – 20Mitochondrial matrix1 PublicationAdd BLAST19
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei21 – 40Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST20
Topological domaini41 – 337Cytoplasmic1 PublicationAdd BLAST297

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer 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
64757

Open Targets

More...
OpenTargetsi
ENSG00000186205

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671344

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5VT66

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3706559

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MARC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74746896

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">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 methionineiRemoved2 Publications
<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_00002733352 – 337Mitochondrial amidoxime-reducing component 1Add BLAST336

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycine2 Publications1

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q5VT66

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5VT66

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5VT66

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q5VT66

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

More...
PaxDbi
Q5VT66

PeptideAtlas

More...
PeptideAtlasi
Q5VT66

PRoteomics IDEntifications database

More...
PRIDEi
Q5VT66

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
65307 [Q5VT66-1]
65308 [Q5VT66-2]
65309 [Q5VT66-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5VT66

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

More...
PhosphoSitePlusi
Q5VT66

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q5VT66

<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
ENSG00000186205 Expressed in 185 organ(s), highest expression level in adipose tissue

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5VT66 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5VT66 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA028702

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase and MARC1.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122271, 31 interactors

Protein interaction database and analysis system

More...
IntActi
Q5VT66, 11 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000355877

<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

Secondary structure

1337
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q5VT66

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
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_and_domains_section">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>Domaini187 – 335MOSCPROSITE-ProRule annotationAdd BLAST149

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2362 Eukaryota
COG3217 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162410

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5VT66

Identification of Orthologs from Complete Genome Data

More...
OMAi
YPVKGCA

Database of Orthologous Groups

More...
OrthoDBi
919343at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5VT66

TreeFam database of animal gene trees

More...
TreeFami
TF316807

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR005302 MoCF_Sase_C
IPR005303 MOSC_N
IPR011037 Pyrv_Knase-like_insert_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03473 MOSC, 1 hit
PF03476 MOSC_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50800 SSF50800, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51340 MOSC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <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 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5VT66-1) [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
MGAAGSSALA RFVLLAQSRP GWLGVAALGL TAVALGAVAW RRAWPTRRRR
60 70 80 90 100
LLQQVGTVAQ LWIYPVKSCK GVPVSEAECT AMGLRSGNLR DRFWLVINQE
110 120 130 140 150
GNMVTARQEP RLVLISLTCD GDTLTLSAAY TKDLLLPIKT PTTNAVHKCR
160 170 180 190 200
VHGLEIEGRD CGEATAQWIT SFLKSQPYRL VHFEPHMRPR RPHQIADLFR
210 220 230 240 250
PKDQIAYSDT SPFLILSEAS LADLNSRLEK KVKATNFRPN IVISGCDVYA
260 270 280 290 300
EDSWDELLIG DVELKRVMAC SRCILTTVDP DTGVMSRKEP LETLKSYRQC
310 320 330
DPSERKLYGK SPLFGQYFVL ENPGTIKVGD PVYLLGQ
Length:337
Mass (Da):37,499
Last modified:December 7, 2004 - v1
<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:iF983AB08F3D646C4
GO
Isoform 2 (identifier: Q5VT66-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     251-251: E → EVTLCPFGSFLGFDFFFK

Note: No experimental confirmation available.
Show »
Length:354
Mass (Da):39,454
Checksum:iCC368AD4B543AD51
GO
Isoform 3 (identifier: Q5VT66-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-102: Missing.
     251-251: E → EVTLCPFGSFLGFDFFFK

Note: No experimental confirmation available.
Show »
Length:252
Mass (Da):28,439
Checksum:i0FEF88317AF6C9D2
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BYZ9H7BYZ9_HUMAN
Mitochondrial amidoxime-reducing co...
MARC1
263Annotation 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>
X6RIL1X6RIL1_HUMAN
Mitochondrial amidoxime-reducing co...
MARC1
119Annotation 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>
H0YDX4H0YDX4_HUMAN
Mitochondrial amidoxime-reducing co...
MARC1
99Annotation 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 BAB15333 differs from that shown. Reason: Frameshift.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_06227315L → H1 PublicationCorresponds to variant dbSNP:rs72470572Ensembl.1
Natural variantiVAR_05694196V → L Common polymorphism in Caucasian population; no effect on binding of the molybdenum cofactor; no significant effect on catalytic efficiency toward benzamidoxime; no significant effect on affinity for benzamidoxime. 2 PublicationsCorresponds to variant dbSNP:rs12023067Ensembl.1
Natural variantiVAR_030129165T → A No effect on binding of the molybdenum cofactor; no significant effect on catalytic efficiency toward benzamidoxime; no significant effect on affinity for benzamidoxime. 5 PublicationsCorresponds to variant dbSNP:rs2642438Ensembl.1
Natural variantiVAR_030130187M → K No effect on binding of the molybdenum cofactor; no significant effect on catalytic efficiency toward benzamidoxime; no significant effect on affinity for benzamidoxime. 2 PublicationsCorresponds to variant dbSNP:rs17850677Ensembl.1
Natural variantiVAR_030131246C → S No effect on binding of the molybdenum cofactor; no significant effect on catalytic efficiency toward benzamidoxime; no significant effect on affinity for benzamidoxime. 2 PublicationsCorresponds to variant dbSNP:rs3738178Ensembl.1
Natural variantiVAR_062274247D → H No effect on binding of the molybdenum cofactor; no significant effect on catalytic efficiency toward benzamidoxime; no significant effect on affinity for benzamidoxime. 2 PublicationsCorresponds to variant dbSNP:rs72470601Ensembl.1
Natural variantiVAR_030132268M → I No effect on binding of the molybdenum cofactor; no significant effect on catalytic efficiency toward benzamidoxime; no significant effect on affinity for benzamidoxime. 1 PublicationCorresponds to variant dbSNP:rs2642419Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0225111 – 102Missing in isoform 3. 1 PublicationAdd BLAST102
Alternative sequenceiVSP_022512251E → EVTLCPFGSFLGFDFFFK in isoform 2 and isoform 3. 1 Publication1

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
AK026043 mRNA Translation: BAB15333.1 Frameshift.
AK094105 mRNA Translation: BAC04286.1
AK290812 mRNA Translation: BAF83501.1
EU563849 Genomic DNA Translation: ACB21046.1
AL445423 Genomic DNA No translation available.
AL606726 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93291.1
BC010619 mRNA Translation: AAH10619.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1526.1 [Q5VT66-1]

NCBI Reference Sequences

More...
RefSeqi
NP_073583.3, NM_022746.3 [Q5VT66-1]
XP_011508202.1, XM_011509900.2 [Q5VT66-2]
XP_011508206.1, XM_011509904.2 [Q5VT66-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000366910; ENSP00000355877; ENSG00000186205 [Q5VT66-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
64757

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:64757

UCSC genome browser

More...
UCSCi
uc001hms.4 human [Q5VT66-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026043 mRNA Translation: BAB15333.1 Frameshift.
AK094105 mRNA Translation: BAC04286.1
AK290812 mRNA Translation: BAF83501.1
EU563849 Genomic DNA Translation: ACB21046.1
AL445423 Genomic DNA No translation available.
AL606726 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93291.1
BC010619 mRNA Translation: AAH10619.1
CCDSiCCDS1526.1 [Q5VT66-1]
RefSeqiNP_073583.3, NM_022746.3 [Q5VT66-1]
XP_011508202.1, XM_011509900.2 [Q5VT66-2]
XP_011508206.1, XM_011509904.2 [Q5VT66-3]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6FW2X-ray1.78A53-337[»]
SMRiQ5VT66
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi122271, 31 interactors
IntActiQ5VT66, 11 interactors
STRINGi9606.ENSP00000355877

Chemistry databases

ChEMBLiCHEMBL3706559

PTM databases

iPTMnetiQ5VT66
PhosphoSitePlusiQ5VT66
SwissPalmiQ5VT66

Polymorphism and mutation databases

BioMutaiMARC1
DMDMi74746896

Proteomic databases

EPDiQ5VT66
jPOSTiQ5VT66
MassIVEiQ5VT66
MaxQBiQ5VT66
PaxDbiQ5VT66
PeptideAtlasiQ5VT66
PRIDEiQ5VT66
ProteomicsDBi65307 [Q5VT66-1]
65308 [Q5VT66-2]
65309 [Q5VT66-3]

Genome annotation databases

EnsembliENST00000366910; ENSP00000355877; ENSG00000186205 [Q5VT66-1]
GeneIDi64757
KEGGihsa:64757
UCSCiuc001hms.4 human [Q5VT66-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
64757
DisGeNETi64757

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MARC1
HGNCiHGNC:26189 MARC1
HPAiHPA028702
MIMi614126 gene
neXtProtiNX_Q5VT66
OpenTargetsiENSG00000186205
PharmGKBiPA142671344

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2362 Eukaryota
COG3217 LUCA
GeneTreeiENSGT00940000162410
InParanoidiQ5VT66
OMAiYPVKGCA
OrthoDBi919343at2759
PhylomeDBiQ5VT66
TreeFamiTF316807

Enzyme and pathway databases

ReactomeiR-HSA-211945 Phase I - Functionalization of compounds

Miscellaneous databases

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

More...
ChiTaRSi
MARC1 human

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

More...
GenomeRNAii
64757
PharosiQ5VT66

Protein Ontology

More...
PROi
PR:Q5VT66

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000186205 Expressed in 185 organ(s), highest expression level in adipose tissue
ExpressionAtlasiQ5VT66 baseline and differential
GenevisibleiQ5VT66 HS

Family and domain databases

InterProiView protein in InterPro
IPR005302 MoCF_Sase_C
IPR005303 MOSC_N
IPR011037 Pyrv_Knase-like_insert_dom_sf
PfamiView protein in Pfam
PF03473 MOSC, 1 hit
PF03476 MOSC_N, 1 hit
SUPFAMiSSF50800 SSF50800, 1 hit
PROSITEiView protein in PROSITE
PS51340 MOSC, 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 nameiMARC1_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: Q5VT66
Secondary accession number(s): A8K447
, B2D078, Q5VVS9, Q5VVT0, Q5VVT1, Q8N9P5, Q96FN8, Q9H6C7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: December 7, 2004
Last modified: October 16, 2019
This is version 128 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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