ID   ERG24_HUMAN             Reviewed;         418 AA.
AC   O76062; A8K4H0; O95982; Q8IY06; Q96E64; Q96GZ1;
DT   31-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT   04-APR-2006, sequence version 3.
DT   07-JUL-2009, entry version 78.
DE   RecName: Full=Delta(14)-sterol reductase;
DE            Short=Delta-14-SR;
DE            EC=1.3.1.70;
DE   AltName: Full=C-14 sterol reductase;
DE   AltName: Full=Sterol C14-reductase;
DE   AltName: Full=Transmembrane 7 superfamily member 2;
DE   AltName: Full=Another new gene 1 protein;
DE   AltName: Full=Putative sterol reductase SR-1;
GN   Name=TM7SF2; Synonyms=ANG1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND VARIANT
RP   ILE-299.
RX   MEDLINE=98277456; PubMed=9615229; DOI=10.1006/geno.1998.5296;
RA   Lemmens I.H., Kas K., Merregaert J., Van de Ven W.J.M.;
RT   "Identification and molecular characterization of TM7SF2 in the FAUNA
RT   gene cluster on human chromosome 11q13.";
RL   Genomics 49:437-442(1998).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT ILE-299,
RP   SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX   MEDLINE=99097347; PubMed=9878250; DOI=10.1006/geno.1998.5615;
RA   Holmer L., Pezhman A., Worman H.J.;
RT   "The human lamin B receptor/sterol reductase multigene family.";
RL   Genomics 54:469-476(1998).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP   ILE-299.
RC   TISSUE=Ovary;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP   ILE-299.
RC   TISSUE=Brain, Eye, and Ovary;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   FUNCTION.
RX   MEDLINE=21644001; PubMed=11784322;
RX   DOI=10.1046/j.0014-2956.2001.02646.x;
RA   Roberti R., Bennati A.M., Galli G., Caruso D., Maras B., Aisa C.,
RA   Beccari T., Della Fazia M.A., Servillo G.;
RT   "Cloning and expression of sterol Delta14-reductase from bovine
RT   liver.";
RL   Eur. J. Biochem. 269:283-290(2002).
CC   -!- FUNCTION: Involved in the conversion of lanosterol to cholesterol.
CC   -!- CATALYTIC ACTIVITY: 4,4-dimethyl-5-alpha-cholesta-8,24-dien-3-
CC       beta-ol + NADP(+) = 4,4-dimethyl-5-alpha-cholesta-8,14,24-trien-3-
CC       beta-ol + NADPH.
CC   -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass
CC       membrane protein.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=O76062-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=O76062-2; Sequence=VSP_017898;
CC         Note=No experimental confirmation available;
CC   -!- TISSUE SPECIFICITY: Expressed in adult heart, brain, pancreas,
CC       lung, liver, skeletal muscle, kidney, ovary, prostate, and testis,
CC       but not detected in placenta, spleen, thymus, small intestine,
CC       colon (mucosal lining), or peripheral blood leukocytes.
CC   -!- SIMILARITY: Belongs to the ERG4/ERG24 family.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAC21450.1; Type=Miscellaneous discrepancy; Note=Sequencing errors;
CC       Sequence=AAC21457.1; Type=Miscellaneous discrepancy; Note=Sequencing errors;
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DR   EMBL; AF048704; AAC21457.1; ALT_FRAME; Genomic_DNA.
DR   EMBL; AF023676; AAC21450.1; ALT_FRAME; mRNA.
DR   EMBL; AF096303; AAD09769.1; -; Genomic_DNA.
DR   EMBL; AF096304; AAD09765.1; -; mRNA.
DR   EMBL; AK290935; BAF83624.1; -; mRNA.
DR   EMBL; BC009052; AAH09052.1; -; mRNA.
DR   EMBL; BC012857; AAH12857.1; -; mRNA.
DR   EMBL; BC038353; AAH38353.1; -; mRNA.
DR   IPI; IPI00019018; -.
DR   IPI; IPI00334970; -.
DR   RefSeq; NP_003264.2; -.
DR   UniGene; Hs.31130; -.
DR   IntAct; O76062; 1.
DR   PRIDE; O76062; -.
DR   Ensembl; ENSG00000149809; Homo sapiens.
DR   GeneID; 7108; -.
DR   KEGG; hsa:7108; -.
DR   UCSC; uc001oct.1; human.
DR   UCSC; uc001ocu.1; human.
DR   GeneCards; GC11P064635; -.
DR   HGNC; HGNC:11863; TM7SF2.
DR   MIM; 603414; gene.
DR   PharmGKB; PA36564; -.
DR   HOVERGEN; O76062; -.
DR   OMA; O76062; TMFHLLL.
DR   BioCyc; MetaCyc:ENSG00000143815-MON; -.
DR   BRENDA; 1.3.1.70; 247.
DR   Reactome; REACT_602; Metabolism of lipids and lipoproteins.
DR   NextBio; 27821; -.
DR   Bgee; O76062; -.
DR   CleanEx; HS_TM7SF2; -.
DR   GermOnline; ENSG00000149809; Homo sapiens.
DR   GO; GO:0005789; C:endoplasmic reticulum membrane; EXP:Reactome.
DR   GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR   GO; GO:0050613; F:delta14-sterol reductase activity; EXP:Reactome.
DR   GO; GO:0006695; P:cholesterol biosynthetic process; IEA:UniProtKB-KW.
DR   GO; GO:0055114; P:oxidation reduction; IEA:UniProtKB-KW.
DR   InterPro; IPR001171; Ergosterol_biosynth_ERG4_ERG24.
DR   InterPro; IPR018083; Sterol_reductase_CS.
DR   Pfam; PF01222; ERG4_ERG24; 1.
DR   PROSITE; PS01017; STEROL_REDUCT_1; 1.
DR   PROSITE; PS01018; STEROL_REDUCT_2; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Cholesterol biosynthesis; Complete proteome;
KW   Endoplasmic reticulum; Lipid synthesis; Membrane; NADP;
KW   Oxidoreductase; Polymorphism; Steroid biosynthesis;
KW   Sterol biosynthesis; Transmembrane.
FT   CHAIN         1    418       Delta(14)-sterol reductase.
FT                                /FTId=PRO_0000207500.
FT   TRANSMEM     13     35       Potential.
FT   TRANSMEM     62     81       Potential.
FT   TRANSMEM    102    124       Potential.
FT   TRANSMEM    129    148       Potential.
FT   TRANSMEM    255    277       Potential.
FT   TRANSMEM    287    304       Potential.
FT   TRANSMEM    355    377       Potential.
FT   VAR_SEQ     298    324       Missing (in isoform 2).
FT                                /FTId=VSP_017898.
FT   VARIANT     119    119       A -> V (in dbSNP:rs11539360).
FT                                /FTId=VAR_052153.
FT   VARIANT     299    299       T -> I (in dbSNP:rs1129195).
FT                                /FTId=VAR_012716.
FT   CONFLICT    179    179       L -> V (in Ref. 4; AAH12857).
FT   CONFLICT    409    409       V -> A (in Ref. 4; AAH38353).
SQ   SEQUENCE   418 AA;  46406 MW;  F5618ABE2BF0A911 CRC64;
     MAPTQGPRAP LEFGGPLGAA ALLLLLPATM FHLLLAARSG PARLLGPPAS LPGLEVLWSP
     RALLLWLAWL GLQAALYLLP ARKVAEGQEL KDKSRLRYPI NGFQALVLTA LLVGLGMSAG
     LPLGALPEML LPLAFVATLT AFIFSLFLYM KAQVAPVSAL APGGNSGNPI YDFFLGRELN
     PRICFFDFKY FCELRPGLIG WVLINLALLM KEAELRGSPS LAMWLVNGFQ LLYVGDALWH
     EEAVLTTMDI THDGFGFMLA FGDMAWVPFT YSLQAQFLLH HPQPLGLPMA SVICLINATG
     YYIFRGANSQ KNTFRKNPSD PRVAGLETIS TATGRKLLVS GWWGMVRHPN YLGDLIMALA
     WSLPCGVSHL LPYFYLLYFT ALLVHREARD ERQCLQKYGL AWQEYCRRVP YRIMPYIY
//