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P56937

- DHB7_HUMAN

UniProt

P56937 - DHB7_HUMAN

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Protein

3-keto-steroid reductase

Gene

HSD17B7

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

Functioni

Responsible for the reduction of the keto group on the C-3 of sterols.1 Publication

Catalytic activityi

A 3-beta-hydroxysteroid + NADP+ = a 3-oxosteroid + NADPH.
17-beta-estradiol + NAD(P)+ = estrone + NAD(P)H.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei171 – 1711SubstrateBy similarity
Active sitei193 – 1931Proton acceptorBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi8 – 158NADSequence Analysis

GO - Molecular functioni

  1. 3-keto sterol reductase activity Source: UniProtKB-EC
  2. estradiol 17-beta-dehydrogenase activity Source: ProtInc

GO - Biological processi

  1. cholesterol biosynthetic process Source: Reactome
  2. estrogen biosynthetic process Source: UniProtKB-UniPathway
  3. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis

Keywords - Ligandi

NAD, NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS05604-MONOMER.
ReactomeiREACT_9405. Cholesterol biosynthesis.
SABIO-RKP56937.
UniPathwayiUPA00769.
UPA00770; UER00758.

Names & Taxonomyi

Protein namesi
Recommended name:
3-keto-steroid reductase (EC:1.1.1.270)
Alternative name(s):
17-beta-hydroxysteroid dehydrogenase 7
Short name:
17-beta-HSD 7
Estradiol 17-beta-dehydrogenase 7 (EC:1.1.1.62)
Gene namesi
Name:HSD17B7
ORF Names:UNQ2563/PRO6243
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:5215. HSD17B7.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29483.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 3413413-keto-steroid reductasePRO_0000054586Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi37 – 371N-linked (GlcNAc...)Sequence Analysis
Glycosylationi178 – 1781N-linked (GlcNAc...)Sequence Analysis
Glycosylationi229 – 2291N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

Phosphorylated.

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiP56937.
PaxDbiP56937.
PRIDEiP56937.

PTM databases

PhosphoSiteiP56937.

Expressioni

Tissue specificityi

Highly expressed in adrenal gland, liver, lung and thymus. Expressed in breast, ovaries, pituitary gland, pregnant uterus, prostate, kidney, lymph node, small intestine, spinal cord and trachea. Weakly expressed in all other tissues tested. Isoform 3 is expressed in eye ciliary epithelial cells and neuroendocrine cells.

Gene expression databases

BgeeiP56937.
CleanExiHS_HSD17B7.
ExpressionAtlasiP56937. baseline.
GenevestigatoriP56937.

Organism-specific databases

HPAiHPA047496.

Interactioni

Protein-protein interaction databases

BioGridi119563. 10 interactions.
IntActiP56937. 5 interactions.
STRINGi9606.ENSP00000254521.

Structurei

3D structure databases

ProteinModelPortaliP56937.
SMRiP56937. Positions 2-228.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 229229ExtracellularSequence AnalysisAdd
BLAST
Topological domaini251 – 34191CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei230 – 25021HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1028.
GeneTreeiENSGT00390000013340.
HOGENOMiHOG000253921.
HOVERGENiHBG058236.
InParanoidiP56937.
KOiK13373.
OMAiCHSDNPS.
PhylomeDBiP56937.
TreeFamiTF105433.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSiPR00081. GDHRDH.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P56937-1) [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
MRKVVLITGA SSGIGLALCK RLLAEDDELH LCLACRNMSK AEAVCAALLA
60 70 80 90 100
SHPTAEVTIV QVDVSNLQSV FRASKELKQR FQRLDCIYLN AGIMPNPQLN
110 120 130 140 150
IKALFFGLFS RKVIHMFSTA EGLLTQGDKI TADGLQEVFE TNVFGHFILI
160 170 180 190 200
RELEPLLCHS DNPSQLIWTS SRSARKSNFS LEDFQHSKGK EPYSSSKYAT
210 220 230 240 250
DLLSVALNRN FNQQGLYSNV ACPGTALTNL TYGILPPFIW TLLMPAILLL
260 270 280 290 300
RFFANAFTLT PYNGTEALVW LFHQKPESLN PLIKYLSATT GFGRNYIMTQ
310 320 330 340
KMDLDEDTAE KFYQKLLELE KHIRVTIQKT DNQARLSGSC L
Length:341
Mass (Da):38,206
Last modified:May 30, 2000 - v1
Checksum:iFE4892B2602F549B
GO
Isoform 2 (identifier: P56937-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     112-119: Missing.

Show »
Length:333
Mass (Da):37,262
Checksum:i187F2F8818D93869
GO
Isoform 3 (identifier: P56937-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     215-249: Missing.

Show »
Length:306
Mass (Da):34,476
Checksum:i61F696BEDA3B9EAE
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti52 – 532HP → PT in AAF14537. (PubMed:10544267)Curated
Sequence conflicti61 – 611Q → P in AAF14537. (PubMed:10544267)Curated
Sequence conflicti86 – 861C → R in CAC88111. (PubMed:12732193)Curated
Sequence conflicti105 – 1051F → L in CAC88111. (PubMed:12732193)Curated
Sequence conflicti135 – 1351L → F in AAP97275. 1 PublicationCurated
Sequence conflicti273 – 2764HQKP → PPKA in AAP97275. 1 PublicationCurated
Sequence conflicti288 – 2958ATTGFGRN → GTTALEEI in AAP97275. 1 PublicationCurated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei112 – 1198Missing in isoform 2. 1 PublicationVSP_006029
Alternative sequencei215 – 24935Missing in isoform 3. 1 PublicationVSP_012766Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF098786 mRNA. Translation: AAF09266.2.
AF162767
, AF162759, AF162760, AF162761, AF162762, AF162763, AF162764, AF162765, AF162766 Genomic DNA. Translation: AAF14537.1.
AJ249179 mRNA. Translation: CAC20418.1.
AJ250550
, AJ250551, AJ250552, AJ250553, AJ250554, AJ250555, AJ250556, AJ250557, AJ250558 Genomic DNA. Translation: CAC88111.1.
AF145023 mRNA. Translation: AAP97275.1.
AY358962 mRNA. Translation: AAQ89321.1.
AK290741 mRNA. Translation: BAF83430.1.
BT007075 mRNA. Translation: AAP35738.1.
AL392003, AL445197 Genomic DNA. Translation: CAI13457.1.
AL445197, AL392003 Genomic DNA. Translation: CAI15947.1.
CH471067 Genomic DNA. Translation: EAW90716.1.
BC007068 mRNA. Translation: AAH07068.1.
BC065246 mRNA. Translation: AAH65246.1.
CCDSiCCDS1242.1. [P56937-1]
RefSeqiNP_057455.1. NM_016371.2. [P56937-1]
UniGeneiHs.492925.

Genome annotation databases

EnsembliENST00000254521; ENSP00000254521; ENSG00000132196. [P56937-1]
GeneIDi51478.
KEGGihsa:51478.
UCSCiuc001gci.3. human. [P56937-1]

Polymorphism databases

DMDMi8134404.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF098786 mRNA. Translation: AAF09266.2 .
AF162767
, AF162759 , AF162760 , AF162761 , AF162762 , AF162763 , AF162764 , AF162765 , AF162766 Genomic DNA. Translation: AAF14537.1 .
AJ249179 mRNA. Translation: CAC20418.1 .
AJ250550
, AJ250551 , AJ250552 , AJ250553 , AJ250554 , AJ250555 , AJ250556 , AJ250557 , AJ250558 Genomic DNA. Translation: CAC88111.1 .
AF145023 mRNA. Translation: AAP97275.1 .
AY358962 mRNA. Translation: AAQ89321.1 .
AK290741 mRNA. Translation: BAF83430.1 .
BT007075 mRNA. Translation: AAP35738.1 .
AL392003 , AL445197 Genomic DNA. Translation: CAI13457.1 .
AL445197 , AL392003 Genomic DNA. Translation: CAI15947.1 .
CH471067 Genomic DNA. Translation: EAW90716.1 .
BC007068 mRNA. Translation: AAH07068.1 .
BC065246 mRNA. Translation: AAH65246.1 .
CCDSi CCDS1242.1. [P56937-1 ]
RefSeqi NP_057455.1. NM_016371.2. [P56937-1 ]
UniGenei Hs.492925.

3D structure databases

ProteinModelPortali P56937.
SMRi P56937. Positions 2-228.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119563. 10 interactions.
IntActi P56937. 5 interactions.
STRINGi 9606.ENSP00000254521.

Chemistry

BindingDBi P56937.
ChEMBLi CHEMBL5999.

PTM databases

PhosphoSitei P56937.

Polymorphism databases

DMDMi 8134404.

Proteomic databases

MaxQBi P56937.
PaxDbi P56937.
PRIDEi P56937.

Protocols and materials databases

DNASUi 51478.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000254521 ; ENSP00000254521 ; ENSG00000132196 . [P56937-1 ]
GeneIDi 51478.
KEGGi hsa:51478.
UCSCi uc001gci.3. human. [P56937-1 ]

Organism-specific databases

CTDi 51478.
GeneCardsi GC01P162760.
HGNCi HGNC:5215. HSD17B7.
HPAi HPA047496.
MIMi 606756. gene.
neXtProti NX_P56937.
PharmGKBi PA29483.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1028.
GeneTreei ENSGT00390000013340.
HOGENOMi HOG000253921.
HOVERGENi HBG058236.
InParanoidi P56937.
KOi K13373.
OMAi CHSDNPS.
PhylomeDBi P56937.
TreeFami TF105433.

Enzyme and pathway databases

UniPathwayi UPA00769 .
UPA00770 ; UER00758 .
BioCyci MetaCyc:HS05604-MONOMER.
Reactomei REACT_9405. Cholesterol biosynthesis.
SABIO-RK P56937.

Miscellaneous databases

GeneWikii HSD17B7.
GenomeRNAii 51478.
NextBioi 55124.
PROi P56937.
SOURCEi Search...

Gene expression databases

Bgeei P56937.
CleanExi HS_HSD17B7.
ExpressionAtlasi P56937. baseline.
Genevestigatori P56937.

Family and domain databases

Gene3Di 3.40.50.720. 1 hit.
InterProi IPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
[Graphical view ]
Pfami PF00106. adh_short. 1 hit.
[Graphical view ]
PRINTSi PR00081. GDHRDH.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Determination of cDNA, gene structure and chromosomal localization of the novel human 17beta-hydroxysteroid dehydrogenase type 7."
    Krazeisen A., Breitling R., Imai K., Fritz S., Moeller G., Adamski J.
    FEBS Lett. 460:373-379(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
  2. Krazeisen A., Breitling R., Imai K., Fritz S., Moeller G., Adamski J.
    Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  3. "Production, purification, and functional analysis of recombinant human and mouse 17beta-hydroxysteroid dehydrogenase type 7."
    Toern S., Nokelainen P., Kurkela R., Pulkka A., Menjivar M., Ghosh S., Coca-Prados M., Peltoketo H., Isomaa V., Vihko P.
    Biochem. Biophys. Res. Commun. 305:37-45(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 3).
    Tissue: Placenta.
  4. "Cloning of a new human cDNA homologous to Rattus norvegicus ovarian-specific protein."
    Zhou Y., Yu L., Zhao S.Y.
    Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. "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].
  7. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  8. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  10. "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] (ISOFORM 1).
    Tissue: Skin and Urinary bladder.
  11. "Closing the gap: identification of human 3-ketosteroid reductase, the last unknown enzyme of mammalian cholesterol biosynthesis."
    Marijanovic Z., Laubner D., Moeller G., Gege C., Husen B., Adamski J., Breitling R.
    Mol. Endocrinol. 17:1715-1725(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION, FUNCTION.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiDHB7_HUMAN
AccessioniPrimary (citable) accession number: P56937
Secondary accession number(s): Q5T246
, Q7Z4V9, Q8WWS2, Q9UF00
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2000
Last modified: October 29, 2014
This is version 147 of the entry and version 1 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3