O76062 (ERG24_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	418 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Cholesterol biosynthesis Cholesterol metabolism Lipid biosynthesis Lipid metabolism Steroid biosynthesis Steroid metabolism Sterol biosynthesis Sterol metabolism
Cellular component	Endoplasmic reticulum Membrane Microsome
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	NADP
Molecular function	Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cholesterol biosynthetic process Traceable author statement. Source: Reactome
Cellular_component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to plasma membrane Traceable author statement Ref.2. Source: ProtInc
Molecular_function	delta14-sterol reductase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 418	418	Delta(14)-sterol reductase		PRO_0000207500
Regions
	Transmembrane	13 – 35	23	Helical; Potential
	Transmembrane	62 – 81	20	Helical; Potential
	Transmembrane	102 – 124	23	Helical; Potential
	Transmembrane	129 – 148	20	Helical; Potential
	Transmembrane	255 – 277	23	Helical; Potential
	Transmembrane	287 – 304	18	Helical; Potential
	Transmembrane	355 – 377	23	Helical; Potential
Natural variations
	Alternative sequence	298 – 324	27	Missing in isoform 2.		VSP_017898
	Natural variant	119	1	A → V. Corresponds to variant rs11539360 [ dbSNP | Ensembl ].		VAR_052153
	Natural variant	299	1	T → I. Ref.1 Ref.2 Ref.3 Ref.4 Corresponds to variant rs1129195 [ dbSNP | Ensembl ].		VAR_012716
Experimental info
	Sequence conflict	179	1	L → V in AAH12857. Ref.4
	Sequence conflict	409	1	V → A in AAH38353. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 4, 2006. Version 3. Checksum: F5618ABE2BF0A911	FASTA	418	46,406
	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
	Isoform 2 [UniParc]. Checksum: C7251559282313EE	FASTA	391	43,365
	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 SVICLINGLE 310 320 330 340 350 360 TISTATGRKL LVSGWWGMVR HPNYLGDLIM ALAWSLPCGV SHLLPYFYLL YFTALLVHRE 370 380 390 ARDERQCLQK YGLAWQEYCR RVPYRIMPYI Y

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00019018. IPI00334970.
RefSeq	NP_003264.2. NM_003273.2.
UniGene	Hs.31130.
3D structure databases
ProteinModelPortal	O76062.
ModBase	Search...
Protein-protein interaction databases
IntAct	O76062. 1 interaction.
STRING	9606.ENSP00000279263.
PTM databases
PhosphoSite	O76062.
Proteomic databases
PaxDb	O76062.
PRIDE	O76062.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000279263; ENSP00000279263; ENSG00000149809. ENST00000345348; ENSP00000329520; ENSG00000149809.
GeneID	7108.
KEGG	hsa:7108.
UCSC	uc001oct.3. human. uc001ocu.3. human.
Organism-specific databases
CTD	7108.
GeneCards	GC11P064881.
HGNC	HGNC:11863. TM7SF2.
HPA	HPA030691.
MIM	603414. gene.
neXtProt	NX_O76062.
PharmGKB	PA36564.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG72042.
HOGENOM	HOG000193296.
HOVERGEN	HBG007825.
InParanoid	O76062.
KO	K00222.
OMA	GDALWYE.
OrthoDB	EOG4FBHT3.
Enzyme and pathway databases
BRENDA	1.3.1.70. 2681.
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	O76062.
Bgee	O76062.
CleanEx	HS_TM7SF2.
Genevestigator	O76062.
GermOnline	ENSG00000149809. Homo sapiens.
Family and domain databases
InterPro	IPR001171. Ergosterol_biosynth_ERG4_ERG24. IPR018083. Sterol_reductase_CS. [Graphical view]
Pfam	PF01222. ERG4_ERG24. 1 hit. [Graphical view]
PROSITE	PS01017. STEROL_REDUCT_1. 1 hit. PS01018. STEROL_REDUCT_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChEMBL	CHEMBL5839.
ChiTaRS	TM7SF2. human.
GenomeRNAi	7108.
NextBio	27821.
SOURCE	Search...

Entry information

Entry name

ERG24_HUMAN

Accession

Primary (citable) accession number: O76062
Secondary accession number(s): A8K4H0 , O95982, Q8IY06, Q96E64, Q96GZ1

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 31, 2002
Last sequence update:	April 4, 2006
Last modified:	April 3, 2013
This is version 112 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.