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Protein

Delta(14)-sterol reductase

Gene

TM7SF2

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 transcript 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

Involved in the conversion of lanosterol to cholesterol.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 sitei311NADPBy similarity1
Binding sitei315NADPBy similarity1
Binding sitei338NADP; via amide nitrogen and carbonyl oxygenBy similarity1
Binding sitei343NADPBy similarity1
Binding sitei390NADPBy similarity1
Binding sitei405NADPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi350 – 351NADPBy similarity2
Nucleotide bindingi394 – 398NADPBy similarity5

<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
Biological processCholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism
LigandNADP

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.3.1.70 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-191273 Cholesterol biosynthesis
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001237

<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:
Delta(14)-sterol reductase (EC:1.3.1.70)
Short name:
Delta-14-SR
Alternative name(s):
Another new gene 1 protein
C-14 sterol reductase
Putative sterol reductase SR-1
Sterol C14-reductase
Transmembrane 7 superfamily member 2
<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:TM7SF2
Synonyms:ANG1
<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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000149809.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11863 TM7SF2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603414 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O76062

<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; 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 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 – 35HelicalSequence analysisAdd BLAST23
Transmembranei62 – 81HelicalSequence analysisAdd BLAST20
Transmembranei102 – 124HelicalSequence analysisAdd BLAST23
Transmembranei129 – 148HelicalSequence analysisAdd BLAST20
Transmembranei255 – 277HelicalSequence analysisAdd BLAST23
Transmembranei287 – 304HelicalSequence analysisAdd BLAST18
Transmembranei355 – 377HelicalSequence analysisAdd BLAST23

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

<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
7108

Open Targets

More...
OpenTargetsi
ENSG00000149809

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36564

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5839

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TM7SF2

<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_00002075001 – 418Delta(14)-sterol reductaseAdd BLAST418

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O76062

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O76062

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O76062

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

More...
PaxDbi
O76062

PeptideAtlas

More...
PeptideAtlasi
O76062

PRoteomics IDEntifications database

More...
PRIDEi
O76062

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50368
50369 [O76062-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O76062

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

More...
PhosphoSitePlusi
O76062

<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 adult heart, brain, pancreas, lung, liver, skeletal muscle, kidney, ovary, prostate, and testis, but not detected in placenta, spleen, thymus, small intestine, colon (mucosal lining), or peripheral blood leukocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000149809 Expressed in 201 organ(s), highest expression level in right adrenal gland

CleanEx database of gene expression profiles

More...
CleanExi
HS_TM7SF2

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O76062 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O76062 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA030691
HPA072704

<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)

More...
BioGridi
112963, 3 interactors

Protein interaction database and analysis system

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IntActi
O76062, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000279263

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O76062

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Belongs to the ERG4/ERG24 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1435 Eukaryota
ENOG410XP67 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000417

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000193296

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG007825

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O76062

KEGG Orthology (KO)

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KOi
K00222

Identification of Orthologs from Complete Genome Data

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OMAi
ATVNCFI

Database of Orthologous Groups

More...
OrthoDBi
532774at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O76062

TreeFam database of animal gene trees

More...
TreeFami
TF101179

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001171 Ergosterol_biosynth_ERG4_ERG24
IPR018083 Sterol_reductase_CS

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01222 ERG4_ERG24, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01017 STEROL_REDUCT_1, 1 hit
PS01018 STEROL_REDUCT_2, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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.

This entry describes 2 <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 2 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O76062-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MAPTQGPRAP LEFGGPLGAA ALLLLLPATM FHLLLAARSG PARLLGPPAS
60 70 80 90 100
LPGLEVLWSP RALLLWLAWL GLQAALYLLP ARKVAEGQEL KDKSRLRYPI
110 120 130 140 150
NGFQALVLTA LLVGLGMSAG LPLGALPEML LPLAFVATLT AFIFSLFLYM
160 170 180 190 200
KAQVAPVSAL APGGNSGNPI YDFFLGRELN PRICFFDFKY FCELRPGLIG
210 220 230 240 250
WVLINLALLM KEAELRGSPS LAMWLVNGFQ LLYVGDALWH EEAVLTTMDI
260 270 280 290 300
THDGFGFMLA FGDMAWVPFT YSLQAQFLLH HPQPLGLPMA SVICLINATG
310 320 330 340 350
YYIFRGANSQ KNTFRKNPSD PRVAGLETIS TATGRKLLVS GWWGMVRHPN
360 370 380 390 400
YLGDLIMALA WSLPCGVSHL LPYFYLLYFT ALLVHREARD ERQCLQKYGL
410
AWQEYCRRVP YRIMPYIY
Length:418
Mass (Da):46,406
Last modified:April 4, 2006 - v3
<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:iF5618ABE2BF0A911
GO
Isoform 2 (identifier: O76062-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     298-324: Missing.

Note: No experimental confirmation available.
Show »
Length:391
Mass (Da):43,365
Checksum:iC7251559282313EE
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 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PLI3E9PLI3_HUMAN
Delta(14)-sterol reductase
TM7SF2
292Annotation 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>
E9PRQ1E9PRQ1_HUMAN
Delta(14)-sterol reductase
TM7SF2
223Annotation 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>
E9PQZ7E9PQZ7_HUMAN
Delta(14)-sterol reductase
TM7SF2
115Annotation 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>
E9PLL1E9PLL1_HUMAN
Delta(14)-sterol reductase
TM7SF2
207Annotation 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>
E9PLS9E9PLS9_HUMAN
Delta(14)-sterol reductase
TM7SF2
271Annotation 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>
H0YDY5H0YDY5_HUMAN
Delta(14)-sterol reductase
TM7SF2
93Annotation 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>
E9PS09E9PS09_HUMAN
Delta(14)-sterol reductase
TM7SF2
256Annotation 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>
E9PS18E9PS18_HUMAN
Delta(14)-sterol reductase
TM7SF2
219Annotation 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>
E9PP79E9PP79_HUMAN
Delta(14)-sterol reductase
TM7SF2
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>
H0YCI8H0YCI8_HUMAN
Delta(14)-sterol reductase
TM7SF2
181Annotation 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 are more potential isoformsShow 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 AAC21450 differs from that shown. Sequencing errors.Curated
The sequence AAC21457 differs from that shown. Sequencing errors.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 conflicti179L → V in AAH12857 (PubMed:15489334).Curated1
Sequence conflicti409V → A in AAH38353 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_052153119A → V. Corresponds to variant dbSNP:rs11539360Ensembl.1
Natural variantiVAR_012716299T → I4 PublicationsCorresponds to variant dbSNP:rs1129195Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_017898298 – 324Missing in isoform 2. 1 PublicationAdd BLAST27

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
AF048704 Genomic DNA Translation: AAC21457.1 Frameshift.
AF023676 mRNA Translation: AAC21450.1 Frameshift.
AF096303 Genomic DNA Translation: AAD09769.1
AF096304 mRNA Translation: AAD09765.1
AK290935 mRNA Translation: BAF83624.1
BC009052 mRNA Translation: AAH09052.1
BC012857 mRNA Translation: AAH12857.1
BC038353 mRNA Translation: AAH38353.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41669.1 [O76062-1]
CCDS60846.1 [O76062-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001264162.1, NM_001277233.1 [O76062-2]
NP_003264.2, NM_003273.3 [O76062-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.31130

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000279263; ENSP00000279263; ENSG00000149809 [O76062-1]
ENST00000345348; ENSP00000329520; ENSG00000149809 [O76062-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
7108

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:7108

UCSC genome browser

More...
UCSCi
uc001oct.5 human [O76062-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF048704 Genomic DNA Translation: AAC21457.1 Frameshift.
AF023676 mRNA Translation: AAC21450.1 Frameshift.
AF096303 Genomic DNA Translation: AAD09769.1
AF096304 mRNA Translation: AAD09765.1
AK290935 mRNA Translation: BAF83624.1
BC009052 mRNA Translation: AAH09052.1
BC012857 mRNA Translation: AAH12857.1
BC038353 mRNA Translation: AAH38353.1
CCDSiCCDS41669.1 [O76062-1]
CCDS60846.1 [O76062-2]
RefSeqiNP_001264162.1, NM_001277233.1 [O76062-2]
NP_003264.2, NM_003273.3 [O76062-1]
UniGeneiHs.31130

3D structure databases

ProteinModelPortaliO76062
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112963, 3 interactors
IntActiO76062, 3 interactors
STRINGi9606.ENSP00000279263

Chemistry databases

ChEMBLiCHEMBL5839
SwissLipidsiSLP:000001237

PTM databases

iPTMnetiO76062
PhosphoSitePlusiO76062

Polymorphism and mutation databases

BioMutaiTM7SF2

Proteomic databases

EPDiO76062
jPOSTiO76062
MaxQBiO76062
PaxDbiO76062
PeptideAtlasiO76062
PRIDEiO76062
ProteomicsDBi50368
50369 [O76062-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000279263; ENSP00000279263; ENSG00000149809 [O76062-1]
ENST00000345348; ENSP00000329520; ENSG00000149809 [O76062-2]
GeneIDi7108
KEGGihsa:7108
UCSCiuc001oct.5 human [O76062-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
7108
DisGeNETi7108
EuPathDBiHostDB:ENSG00000149809.14

GeneCards: human genes, protein and diseases

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GeneCardsi
TM7SF2
HGNCiHGNC:11863 TM7SF2
HPAiHPA030691
HPA072704
MIMi603414 gene
neXtProtiNX_O76062
OpenTargetsiENSG00000149809
PharmGKBiPA36564

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1435 Eukaryota
ENOG410XP67 LUCA
GeneTreeiENSGT00390000000417
HOGENOMiHOG000193296
HOVERGENiHBG007825
InParanoidiO76062
KOiK00222
OMAiATVNCFI
OrthoDBi532774at2759
PhylomeDBiO76062
TreeFamiTF101179

Enzyme and pathway databases

BRENDAi1.3.1.70 2681
ReactomeiR-HSA-191273 Cholesterol biosynthesis
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)

Miscellaneous databases

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

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ChiTaRSi
TM7SF2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TM7SF2

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

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GenomeRNAii
7108

Protein Ontology

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PROi
PR:O76062

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000149809 Expressed in 201 organ(s), highest expression level in right adrenal gland
CleanExiHS_TM7SF2
ExpressionAtlasiO76062 baseline and differential
GenevisibleiO76062 HS

Family and domain databases

InterProiView protein in InterPro
IPR001171 Ergosterol_biosynth_ERG4_ERG24
IPR018083 Sterol_reductase_CS
PfamiView protein in Pfam
PF01222 ERG4_ERG24, 1 hit
PROSITEiView protein in PROSITE
PS01017 STEROL_REDUCT_1, 1 hit
PS01018 STEROL_REDUCT_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiERG24_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: O76062
Secondary accession number(s): A8K4H0
, O95982, Q8IY06, Q96E64, Q96GZ1
<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 31, 2002
Last sequence update: April 4, 2006
Last modified: January 16, 2019
This is version 157 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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