Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

O76062 (ERG24_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Delta(14)-sterol reductase

Short name=Delta-14-SR
EC=1.3.1.70
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 names
Name:TM7SF2
Synonyms:ANG1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length418 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

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

Microsome membrane; Multi-pass membrane protein By similarity. 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: Sequencing errors.

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

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 418418Delta(14)-sterol reductase
PRO_0000207500

Regions

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

Natural variations

Alternative sequence298 – 32427Missing in isoform 2.
VSP_017898
Natural variant1191A → V.
Corresponds to variant rs11539360 [ dbSNP | Ensembl ].
VAR_052153
Natural variant2991T → I. Ref.1 Ref.2 Ref.3 Ref.4
Corresponds to variant rs1129195 [ dbSNP | Ensembl ].
VAR_012716

Experimental info

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

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 [UniParc].

Checksum: C7251559282313EE
Show »

FASTA39143,365

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] [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. 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] [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]"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] [Europe PMC] [Abstract]
Cited for: FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS41669.1. [O76062-1]
CCDS60846.1. [O76062-2]
RefSeqNP_001264162.1. NM_001277233.1. [O76062-2]
NP_003264.2. NM_003273.3. [O76062-1]
UniGeneHs.31130.

3D structure databases

ProteinModelPortalO76062.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112963. 3 interactions.
IntActO76062. 1 interaction.
STRING9606.ENSP00000279263.

Chemistry

ChEMBLCHEMBL5839.

PTM databases

PhosphoSiteO76062.

Proteomic databases

MaxQBO76062.
PaxDbO76062.
PRIDEO76062.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000279263; ENSP00000279263; ENSG00000149809. [O76062-1]
ENST00000345348; ENSP00000329520; ENSG00000149809. [O76062-2]
GeneID7108.
KEGGhsa:7108.
UCSCuc001oct.4. human. [O76062-1]
uc001ocu.4. human. [O76062-2]

Organism-specific databases

CTD7108.
GeneCardsGC11P064881.
HGNCHGNC:11863. TM7SF2.
HPAHPA030691.
MIM603414. gene.
neXtProtNX_O76062.
PharmGKBPA36564.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG72042.
HOGENOMHOG000193296.
HOVERGENHBG007825.
InParanoidO76062.
KOK00222.
OMAGDALWYE.
PhylomeDBO76062.
TreeFamTF101179.

Enzyme and pathway databases

BRENDA1.3.1.70. 2681.
ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressO76062.
BgeeO76062.
CleanExHS_TM7SF2.
GenevestigatorO76062.

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

ChiTaRSTM7SF2. human.
GeneWikiTM7SF2.
GenomeRNAi7108.
NextBio27821.
PROO76062.
SOURCESearch...

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 9, 2014
This is version 125 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

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