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O76062

- ERG24_HUMAN

UniProt

O76062 - ERG24_HUMAN

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Protein

Delta(14)-sterol reductase

Gene

TM7SF2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiO76062.
CleanExiHS_TM7SF2.
ExpressionAtlasiO76062. baseline and differential.
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.
GeneTreeiENSGT00390000000417.
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

        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
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.
GeneTreei ENSGT00390000000417.
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

Bgeei O76062.
CleanExi HS_TM7SF2.
ExpressionAtlasi O76062. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 128 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