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Reviewed, UniProtKB/Swiss-Prot O76062 (ERG24_HUMAN)

Last modified July 7, 2009. Version 78. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Delta(14)-sterol reductase
      Short name=Delta-14-SR
    EC=1.3.1.70
Alternative name(s):
    C-14 sterol reductase
    Sterol C14-reductase
    Transmembrane 7 superfamily member 2
    Another new gene 1 protein
    Putative sterol reductase SR-1
Gene names
Name: TM7SF2
Synonyms: ANG1
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length418 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at transcript level.

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General annotation (Comments)

Function

Involved in the conversion of lanosterol to cholesterol. Ref.5

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. Ref.2

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. Ref.2

Sequence similarities

Belongs to the ERG4/ERG24 family.

Sequence caution

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

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

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Ontologies

Keywords
   Biological processCholesterol biosynthesis
Lipid synthesis
Steroid biosynthesis
Sterol biosynthesis
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
   LigandNADP
   Molecular functionOxidoreductase
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processcholesterol biosynthetic process

Inferred from electronic annotation. Source: UniProtKB-KW

oxidation reduction

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentendoplasmic reticulum membrane

Inferred from Experiment. Source: Reactome

integral to plasma membrane Ref.2

Traceable author statement. Source: ProtInc

   Molecular functiondelta14-sterol reductase activity

Inferred from Experiment. Source: Reactome

Complete GO annotation...

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Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O76062-1)

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.
Isoform 2 (identifier: O76062-2)

The sequence of this isoform differs from the canonical sequence as follows:
     298-324: Missing.
Note: No experimental confirmation available.

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 418418Delta(14)-sterol reductase
PRO_0000207500

Regions

Transmembrane13 – 3523 Potential
Transmembrane62 – 8120 Potential
Transmembrane102 – 12423 Potential
Transmembrane129 – 14820 Potential
Transmembrane255 – 27723 Potential
Transmembrane287 – 30418 Potential
Transmembrane355 – 37723 Potential

Natural variations

Alternative sequence298 – 32427Missing in isoform 2.
VSP_017898
Natural variant1191A → V: dbSNP rs11539360.
VAR_052153
Natural variant2991T → I: dbSNP rs1129195. Ref.2 Ref.1 Ref.3 Ref.4
VAR_012716

Experimental info

Sequence conflict1791L → V in AAH12857. Ref.4
Sequence conflict4091V → A in AAH38353. Ref.4

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Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 4, 2006. Version 3.
Checksum: F5618ABE2BF0A911

FASTA41846,406
        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

« Hide

Isoform 2.

Checksum: C7251559282313EE
Show »

FASTA39143,365

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References

« Hide 'large scale' references
[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: 9615229] [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: 9878250] [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. expand/collapse author list , 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: 14702039] [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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ILE-299.
Tissue: Brain, Eye and Ovary.
[5]"Cloning and expression of sterol Delta14-reductase from bovine liver."
Roberti R., Bennati A.M., Galli G., Caruso D., Maras B., Aisa C., Beccari T., Della Fazia M.A., Servillo G.
Eur. J. Biochem. 269:283-290(2002) [PubMed: 11784322] [Abstract]
Cited for: FUNCTION.
+Additional computationally mapped references.

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Cross-references

Sequence databases

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.
IPIIPI00019018.
IPI00334970.
RefSeqNP_003264.2.
UniGeneHs.31130

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActO76062. 1 interaction.

Proteomic databases

PRIDEO76062.

Genome annotation databases

EnsemblENSG00000149809. Homo sapiens. [Contig view]
GeneID7108.
KEGGhsa:7108.
UCSCuc001oct.1. human.
uc001ocu.1. human.

Organism-specific databases

GeneCardsGC11P064635.
HGNCHGNC:11863. TM7SF2.
MIM603414. gene.
PharmGKBPA36564.
GenAtlasSearch...

Phylogenomic databases

HOVERGENO76062.
OMAO76062. TMFHLLL.

Enzyme and pathway databases

BioCycMetaCyc:ENSG00000143815-MON.
BRENDA1.3.1.70. 247.
ReactomeREACT_602. Metabolism of lipids and lipoproteins.

Gene expression databases

BgeeO76062.
CleanExHS_TM7SF2.
GermOnlineENSG00000149809. Homo sapiens.

Family and domain databases

InterProIPR001171. Ergosterol_biosynth_ERG4_ERG24.
IPR018083. Sterol_reductase_CS.
[Graphical view]
PfamPF01222. ERG4_ERG24. 1 hit.
[Graphical view]
PROSITEPS01017. STEROL_REDUCT_1. 1 hit.
PS01018. STEROL_REDUCT_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio27821.
SOURCESearch...

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Entry information

Entry nameERG24_HUMAN
AccessionPrimary (citable) accession number: O76062
Secondary accession number(s): A8K4H0 expand/collapse secondary AC list , O95982, Q8IY06, Q96E64, Q96GZ1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: April 4, 2006
Last modified: July 7, 2009
This is version 78 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents