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O76062

- ERG24_HUMAN

UniProt

O76062 - ERG24_HUMAN

Protein

Delta(14)-sterol reductase

Gene

TM7SF2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 3 (04 Apr 2006)
      Previous versions | rss
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    Functioni

    Involved in the conversion of lanosterol to cholesterol.1 Publication

    Catalytic activityi

    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.

    GO - Molecular functioni

    1. delta14-sterol reductase activity Source: UniProtKB-EC

    GO - Biological processi

    1. cholesterol biosynthetic process Source: Reactome
    2. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Cholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism

    Keywords - Ligandi

    NADP

    Enzyme and pathway databases

    BRENDAi1.3.1.70. 2681.
    ReactomeiREACT_147904. Activation of gene expression by SREBF (SREBP).
    REACT_9405. Cholesterol biosynthesis.

    Names & Taxonomyi

    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
    Gene namesi
    Name:TM7SF2
    Synonyms:ANG1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:11863. TM7SF2.

    Subcellular locationi

    Microsome membrane By similarity; Multi-pass membrane protein By similarity. Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum Source: ProtInc
    2. endoplasmic reticulum membrane Source: Reactome
    3. integral component of plasma membrane Source: ProtInc
    4. receptor complex Source: MGI

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA36564.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 418418Delta(14)-sterol reductasePRO_0000207500Add
    BLAST

    Proteomic databases

    MaxQBiO76062.
    PaxDbiO76062.
    PRIDEiO76062.

    PTM databases

    PhosphoSiteiO76062.

    Expressioni

    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

    ArrayExpressiO76062.
    BgeeiO76062.
    CleanExiHS_TM7SF2.
    GenevestigatoriO76062.

    Organism-specific databases

    HPAiHPA030691.

    Interactioni

    Protein-protein interaction databases

    BioGridi112963. 4 interactions.
    IntActiO76062. 1 interaction.
    STRINGi9606.ENSP00000279263.

    Structurei

    3D structure databases

    ProteinModelPortaliO76062.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei13 – 3523HelicalSequence AnalysisAdd
    BLAST
    Transmembranei62 – 8120HelicalSequence AnalysisAdd
    BLAST
    Transmembranei102 – 12423HelicalSequence AnalysisAdd
    BLAST
    Transmembranei129 – 14820HelicalSequence AnalysisAdd
    BLAST
    Transmembranei255 – 27723HelicalSequence AnalysisAdd
    BLAST
    Transmembranei287 – 30418HelicalSequence AnalysisAdd
    BLAST
    Transmembranei355 – 37723HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the ERG4/ERG24 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG72042.
    HOGENOMiHOG000193296.
    HOVERGENiHBG007825.
    InParanoidiO76062.
    KOiK00222.
    OMAiGDALWYE.
    PhylomeDBiO76062.
    TreeFamiTF101179.

    Family and domain databases

    InterProiIPR001171. Ergosterol_biosynth_ERG4_ERG24.
    IPR018083. Sterol_reductase_CS.
    [Graphical view]
    PfamiPF01222. ERG4_ERG24. 1 hit.
    [Graphical view]
    PROSITEiPS01017. STEROL_REDUCT_1. 1 hit.
    PS01018. STEROL_REDUCT_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MAPTQGPRAP LEFGGPLGAA ALLLLLPATM FHLLLAARSG PARLLGPPAS    50
    LPGLEVLWSP RALLLWLAWL GLQAALYLLP ARKVAEGQEL KDKSRLRYPI 100
    NGFQALVLTA LLVGLGMSAG LPLGALPEML LPLAFVATLT AFIFSLFLYM 150
    KAQVAPVSAL APGGNSGNPI YDFFLGRELN PRICFFDFKY FCELRPGLIG 200
    WVLINLALLM KEAELRGSPS LAMWLVNGFQ LLYVGDALWH EEAVLTTMDI 250
    THDGFGFMLA FGDMAWVPFT YSLQAQFLLH HPQPLGLPMA SVICLINATG 300
    YYIFRGANSQ KNTFRKNPSD PRVAGLETIS TATGRKLLVS GWWGMVRHPN 350
    YLGDLIMALA WSLPCGVSHL LPYFYLLYFT ALLVHREARD ERQCLQKYGL 400
    AWQEYCRRVP YRIMPYIY 418
    Length:418
    Mass (Da):46,406
    Last modified:April 4, 2006 - v3
    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

    Sequence cautioni

    The sequence AAC21450.1 differs from that shown. Reason: Sequencing errors.
    The sequence AAC21457.1 differs from that shown. Reason: Sequencing errors.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti179 – 1791L → V in AAH12857. (PubMed:15489334)Curated
    Sequence conflicti409 – 4091V → A in AAH38353. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti119 – 1191A → V.
    Corresponds to variant rs11539360 [ dbSNP | Ensembl ].
    VAR_052153
    Natural varianti299 – 2991T → I.4 Publications
    Corresponds to variant rs1129195 [ dbSNP | Ensembl ].
    VAR_012716

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei298 – 32427Missing in isoform 2. 1 PublicationVSP_017898Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.

    Genome annotation databases

    EnsembliENST00000279263; ENSP00000279263; ENSG00000149809. [O76062-1]
    ENST00000345348; ENSP00000329520; ENSG00000149809. [O76062-2]
    GeneIDi7108.
    KEGGihsa:7108.
    UCSCiuc001oct.4. human. [O76062-1]
    uc001ocu.4. human. [O76062-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS41669.1. [O76062-1 ]
    CCDS60846.1. [O76062-2 ]
    RefSeqi NP_001264162.1. NM_001277233.1. [O76062-2 ]
    NP_003264.2. NM_003273.3. [O76062-1 ]
    UniGenei Hs.31130.

    3D structure databases

    ProteinModelPortali O76062.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112963. 4 interactions.
    IntActi O76062. 1 interaction.
    STRINGi 9606.ENSP00000279263.

    Chemistry

    ChEMBLi CHEMBL5839.

    PTM databases

    PhosphoSitei O76062.

    Proteomic databases

    MaxQBi O76062.
    PaxDbi O76062.
    PRIDEi O76062.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000279263 ; ENSP00000279263 ; ENSG00000149809 . [O76062-1 ]
    ENST00000345348 ; ENSP00000329520 ; ENSG00000149809 . [O76062-2 ]
    GeneIDi 7108.
    KEGGi hsa:7108.
    UCSCi uc001oct.4. human. [O76062-1 ]
    uc001ocu.4. human. [O76062-2 ]

    Organism-specific databases

    CTDi 7108.
    GeneCardsi GC11P064881.
    HGNCi HGNC:11863. TM7SF2.
    HPAi HPA030691.
    MIMi 603414. gene.
    neXtProti NX_O76062.
    PharmGKBi PA36564.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG72042.
    HOGENOMi HOG000193296.
    HOVERGENi HBG007825.
    InParanoidi O76062.
    KOi K00222.
    OMAi GDALWYE.
    PhylomeDBi O76062.
    TreeFami TF101179.

    Enzyme and pathway databases

    BRENDAi 1.3.1.70. 2681.
    Reactomei REACT_147904. Activation of gene expression by SREBF (SREBP).
    REACT_9405. Cholesterol biosynthesis.

    Miscellaneous databases

    ChiTaRSi TM7SF2. human.
    GeneWikii TM7SF2.
    GenomeRNAii 7108.
    NextBioi 27821.
    PROi O76062.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O76062.
    Bgeei O76062.
    CleanExi HS_TM7SF2.
    Genevestigatori O76062.

    Family and domain databases

    InterProi IPR001171. Ergosterol_biosynth_ERG4_ERG24.
    IPR018083. Sterol_reductase_CS.
    [Graphical view ]
    Pfami PF01222. ERG4_ERG24. 1 hit.
    [Graphical view ]
    PROSITEi PS01017. STEROL_REDUCT_1. 1 hit.
    PS01018. STEROL_REDUCT_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification and molecular characterization of TM7SF2 in the FAUNA gene cluster on human chromosome 11q13."
      Lemmens I.H., Kas K., Merregaert J., Van de Ven W.J.M.
      Genomics 49:437-442(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT ILE-299.
    2. "The human lamin B receptor/sterol reductase multigene family."
      Holmer L., Pezhman A., Worman H.J.
      Genomics 54:469-476(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT ILE-299, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-299.
      Tissue: Ovary.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ILE-299.
      Tissue: Brain, Eye and Ovary.
    5. Cited for: FUNCTION.

    Entry informationi

    Entry nameiERG24_HUMAN
    AccessioniPrimary (citable) accession number: O76062
    Secondary accession number(s): A8K4H0
    , O95982, Q8IY06, Q96E64, Q96GZ1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 31, 2002
    Last sequence update: April 4, 2006
    Last modified: October 1, 2014
    This is version 127 of the entry and version 3 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3