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UniProtKB/Swiss-Prot entry O76062


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name ERG24_HUMAN
Primary accession number O76062
Secondary accession numbers O95982 Q8IY06 Q96E64 Q96GZ1
Integrated into Swiss-Prot on January 31, 2002
Sequence was last modified on April 4, 2006 (Sequence version 3)
Annotations were last modified on    December 16, 2008 (Entry version 72)
Name and origin of the protein
Protein name Delta(14)-sterol reductase
Synonyms Delta-14-SR
EC 1.3.1.70
C-14 sterol reductase
Sterol C14-reductase
Transmembrane 7 superfamily member 2
Another new gene 1 protein
Putative sterol reductase SR-1
Gene name
Name: TM7SF2
Synonyms: ANG1
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 2: Evidence at transcript level;
References
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND VARIANT ILE-299.
DOI=10.1006/geno.1998.5296; PubMed=9615229 [NCBI, ExPASy, EBI, Israel, Japan]
Lemmens I.H., Kas K., Merregaert J., Van de Ven W.J.M.;
"Identification and molecular characterization of TM7SF2 in the FAUNA gene cluster on human chromosome 11q13.";
Genomics 49:437-442(1998).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT ILE-299, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
DOI=10.1006/geno.1998.5615; PubMed=9878250 [NCBI, ExPASy, EBI, Israel, Japan]
Holmer L., Pezhman A., Worman H.J.;
"The human lamin B receptor/sterol reductase multigene family.";
Genomics 54:469-476(1998).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT ILE-299.
TISSUE=Brain, Eye, and Ovary;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
FUNCTION.
PubMed=11784322 [NCBI, ExPASy, EBI, Israel, Japan]
Roberti R., Bennati A.M., Galli G., Caruso D., Maras B., Aisa C., Beccari T., Della Fazia M.A., Servillo G.;
"Cloning and expression of sterol Delta14-reductase from bovine liver.";
Eur. J. Biochem. 269:283-290(2002).
Comments
  • FUNCTION: Involved in the conversion of lanosterol to cholesterol.
  • CATALYTIC ACTIVITY: 4,4-dimethyl-5-alpha-cholesta-8,24-dien-3-beta-ol + NADP+ = 4,4-dimethyl-5-alpha-cholesta-8,14,24-trien-3-beta-ol + NADPH.
  • SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
  • ALTERNATIVE PRODUCTS: 2 named isoforms [FASTA] produced by alternative splicing.
    Name1
    Isoform IDO76062-1
    This is the isoform sequence displayed in this entry.
    Name2
    Isoform IDO76062-2
    Note: No experimental confirmation available.
    Features which should be applied to build the isoform sequence: VSP_017898.
  • TISSUE SPECIFICITY: 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.
  • SIMILARITY: Belongs to the ERG4/ERG24 family.
  • SEQUENCE CAUTION:
    • Sequence=AAC21450.1; Type=Miscellaneous discrepancy; Note=Sequencing errors
    • Sequence=AAC21457.1; Type=Miscellaneous discrepancy; Note=Sequencing errors
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF048704; AAC21457.1; ALT_FRAME; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF023676; AAC21450.1; ALT_FRAME; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF096303; AAD09769.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF096304; AAD09765.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC009052; AAH09052.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC012857; AAH12857.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC038353; AAH38353.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_003264.2; -.
UniGene Hs.31130
3D structure databases
ModBase O76062.
Enzyme and pathway databases
BioCyc MetaCyc:ENSG00000143815-MON; -.
Reactome REACT_602; Lipid and lipoprotein metabolism.
Organism-specific databases
GeneCards GC11P064635; -.
HGNC HGNC:11863; TM7SF2.
GenAtlas TM7SF2.
MIM 603414; gene. [NCBI / EBI]
PharmGKB PA36564; -.
GeneCards O76062.
Gene expression databases
CleanEx HS_TM7SF2; -.
GermOnline ENSG00000149809; Homo sapiens.
Ontologies
GO
GO:0005789; Cellular component: endoplasmic reticulum membrane (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005887; Cellular component: integral to plasma membrane (traceable author statement from ProtInc).
GO:0050613; Molecular function: delta14-sterol reductase activity (inferred from electronic annotation from EC).
GO:0006695; Biological process: cholesterol biosynthetic process (inferred from electronic annotation from UniProtKB-KW).
GO:0055114; Biological process: oxidation reduction (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.
Family and domain databases
InterPro IPR001171; ERG4_ERG24.
Graphical view of domain structure.
Pfam PF01222; ERG4_ERG24; 1.
Pfam graphical view of domain structure.
PROSITE PS01017; STEROL_REDUCT_1; 1.
PS01018; STEROL_REDUCT_2; 1.
Proteomics databases
PRIDE O76062; -.
Genome annotation databases
Ensembl ENSG00000149809; Homo sapiens. [Contig view]
GeneID 7108; -.
KEGG hsa:7108; -.
Phylogenomic databases
HOVERGEN O76062; -.
Other
NextBio 27821; -.
SOURCE TM7SF2; Homo sapiens.
ProtoNet O76062.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Cholesterol biosynthesis; Endoplasmic reticulum; Lipid synthesis; Membrane; NADP; Oxidoreductase; Polymorphism; Steroid biosynthesis; Sterol biosynthesis; Transmembrane.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   418  418     Delta(14)-sterol reductase. PRO_0000207500
TRANSMEM   13    35  23     Potential. 
TRANSMEM   62    81  20     Potential. 
TRANSMEM   102   124  23     Potential. 
TRANSMEM   129   148  20     Potential. 
TRANSMEM   255   277  23     Potential. 
TRANSMEM   287   304  18     Potential. 
TRANSMEM   355   377  23     Potential. 
VAR_SEQ   298   324        Missing (in isoform 2). VSP_017898
VARIANT   119   119  1     A -> V (in dbSNP:rs11539360 [NCBI]). VAR_052153 
VARIANT   299   299  1     T -> I (in dbSNP:rs1129195 [NCBI]). VAR_012716 
CONFLICT   179   179        L -> V (in Ref. 3; AAH12857). 
CONFLICT   409   409        V -> A (in Ref. 3; AAH38353). 
Sequence information
Length: 418 AA [This is the length of the unprocessed precursor] Molecular weight: 46406 Da [This is the MW of the unprocessed precursor] CRC64: F5618ABE2BF0A911 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MAPTQGPRAP LEFGGPLGAA ALLLLLPATM FHLLLAARSG PARLLGPPAS LPGLEVLWSP 

        70         80         90        100        110        120 
RALLLWLAWL GLQAALYLLP ARKVAEGQEL KDKSRLRYPI NGFQALVLTA LLVGLGMSAG 

       130        140        150        160        170        180 
LPLGALPEML LPLAFVATLT AFIFSLFLYM KAQVAPVSAL APGGNSGNPI YDFFLGRELN 

       190        200        210        220        230        240 
PRICFFDFKY FCELRPGLIG WVLINLALLM KEAELRGSPS LAMWLVNGFQ LLYVGDALWH 

       250        260        270        280        290        300 
EEAVLTTMDI THDGFGFMLA FGDMAWVPFT YSLQAQFLLH HPQPLGLPMA SVICLINATG 

       310        320        330        340        350        360 
YYIFRGANSQ KNTFRKNPSD PRVAGLETIS TATGRKLLVS GWWGMVRHPN YLGDLIMALA 

       370        380        390        400        410 
WSLPCGVSHL LPYFYLLYFT ALLVHREARD ERQCLQKYGL AWQEYCRRVP YRIMPYIY 

O76062 in FASTA format

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View entry in raw text format (no links)
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Tools Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
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