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Q8N5D6

- GBGT1_HUMAN

UniProt

Q8N5D6 - GBGT1_HUMAN

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Protein

Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1

Gene

GBGT1

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

Functioni

Catalyzes the formation of some glycolipid via the addition of N-acetylgalactosamine (GalNAc) in alpha-1,3-linkage to some substrate. Glycolipids probably serve for adherence of some pathogens.

Cofactori

Manganese.By similarity

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi206 – 2061ManganeseBy similarity
Metal bindingi208 – 2081ManganeseBy similarity

GO - Molecular functioni

  1. globoside alpha-N-acetylgalactosaminyltransferase activity Source: Ensembl
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. glycolipid biosynthetic process Source: ProtInc
  2. protein glycosylation Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Manganese, Metal-binding

Enzyme and pathway databases

UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT6. Glycosyltransferase Family 6.

Names & Taxonomyi

Protein namesi
Recommended name:
Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (EC:2.4.1.-)
Alternative name(s):
Forssman glycolipid synthase-like protein
Gene namesi
Name:GBGT1
ORF Names:UNQ2513/PRO6002
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:20460. GBGT1.

Subcellular locationi

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134967297.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 347347Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1PRO_0000157295Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi108 – 1081N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8N5D6.
PRIDEiQ8N5D6.

Expressioni

Tissue specificityi

Widely expressed. Expressed at higher level in placenta, ovary and peripheral blood leukocyte, whereas it is weakly expressed in liver, thymus, and testis.1 Publication

Gene expression databases

BgeeiQ8N5D6.
CleanExiHS_GBGT1.
ExpressionAtlasiQ8N5D6. baseline and differential.
GenevestigatoriQ8N5D6.

Organism-specific databases

HPAiHPA051298.

Interactioni

Protein-protein interaction databases

IntActiQ8N5D6. 1 interaction.
STRINGi9606.ENSP00000361110.

Structurei

3D structure databases

ProteinModelPortaliQ8N5D6.
SMRiQ8N5D6. Positions 66-338.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 55CytoplasmicSequence Analysis
Topological domaini27 – 347321LumenalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei6 – 2621Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

Family & Domainsi

Domaini

The conserved DXD motif is involved in cofactor binding. The manganese ion interacts with the beta-phosphate group of UDP and may also have a role in catalysis (By similarity).By similarity

Sequence similaritiesi

Belongs to the glycosyltransferase 6 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG43612.
GeneTreeiENSGT00400000022032.
HOVERGENiHBG003563.
InParanoidiQ8N5D6.
KOiK00722.
OMAiPCPEIFN.
OrthoDBiEOG72JWGX.
PhylomeDBiQ8N5D6.
TreeFamiTF330991.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR005076. Glyco_trans_6.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR10462. PTHR10462. 1 hit.
PfamiPF03414. Glyco_transf_6. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N5D6-1) [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
MHRRRLALGL GFCLLAGTSL SVLWVYLENW LPVSYVPYYL PCPEIFNMKL
60 70 80 90 100
HYKREKPLQP VVWSQYPQPK LLEHRPTQLL TLTPWLAPIV SEGTFNPELL
110 120 130 140 150
QHIYQPLNLT IGVTVFAVGK YTHFIQSFLE SAEEFFMRGY RVHYYIFTDN
160 170 180 190 200
PAAVPGVPLG PHRLLSSIPI QGHSHWEETS MRRMETISQH IAKRAHREVD
210 220 230 240 250
YLFCLDVDMV FRNPWGPETL GDLVAAIHPS YYAVPRQQFP YERRRVSTAF
260 270 280 290 300
VADSEGDFYY GGAVFGGQVA RVYEFTRGCH MAILADKANG IMAAWREESH
310 320 330 340
LNRHFISNKP SKVLSPEYLW DDRKPQPPSL KLIRFSTLDK DISCLRS
Length:347
Mass (Da):40,127
Last modified:May 10, 2005 - v2
Checksum:i99987D43B22344A0
GO
Isoform 2 (identifier: Q8N5D6-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     120-347: KYTHFIQSFL...LDKDISCLRS → NPSWSQPRSS...SWLPGGRKAT

Note: No experimental confirmation available.

Show »
Length:294
Mass (Da):32,687
Checksum:i4FC38271E20C577F
GO
Isoform 3 (identifier: Q8N5D6-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     46-63: FNMKLHYKREKPLQPVVW → L

Note: No experimental confirmation available.

Show »
Length:330
Mass (Da):37,945
Checksum:iDBF7B5A9A1BCDE3D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti163 – 1631R → Q in AAF06145. (PubMed:10506200)Curated
Sequence conflicti202 – 2021L → F in AAF06145. (PubMed:10506200)Curated
Sequence conflicti254 – 2541S → R in AAF06145. (PubMed:10506200)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201L → F.4 Publications
Corresponds to variant rs2073924 [ dbSNP | Ensembl ].
VAR_022452
Natural varianti21 – 211S → G.1 Publication
Corresponds to variant rs35578482 [ dbSNP | Ensembl ].
VAR_025068
Natural varianti79 – 791L → P.1 Publication
Corresponds to variant rs12350913 [ dbSNP | Ensembl ].
VAR_025069
Natural varianti163 – 1631R → W.1 Publication
Corresponds to variant rs34260370 [ dbSNP | Ensembl ].
VAR_025070
Natural varianti200 – 2001D → N.1 Publication
Corresponds to variant rs34903033 [ dbSNP | Ensembl ].
VAR_025071
Natural varianti238 – 2381Q → P.1 Publication
Corresponds to variant rs35366884 [ dbSNP | Ensembl ].
VAR_025072
Natural varianti248 – 2481T → I.1 Publication
Corresponds to variant rs35184631 [ dbSNP | Ensembl ].
VAR_025073
Natural varianti291 – 2911I → F.1 Publication
Corresponds to variant rs35403335 [ dbSNP | Ensembl ].
VAR_025074

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei46 – 6318FNMKL…QPVVW → L in isoform 3. 1 PublicationVSP_055375Add
BLAST
Alternative sequencei120 – 347228KYTHF…SCLRS → NPSWSQPRSSSCVGTGCTTT SSLTTLQPFPGSRWVPTGFS APSPSRVTPTGRRHPCAGWR PSASTLLRGLTGRWTTSSAL MWTWCFGTRGALRPWETWWL PFTQATTPFPASSSPMSAGV FPLPLWQTAKGTSIMVGQSS GGRWPGYMSLLGAATWPSWR TRPMASWLPGGRKAT in isoform 2. 1 PublicationVSP_013750Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF163572 Transcribed RNA. Translation: AAF06145.1.
AY358175 mRNA. Translation: AAQ88542.1.
AK074639 mRNA. Translation: BAC11106.1.
AK291498 mRNA. Translation: BAF84187.1.
AK303825 mRNA. Translation: BAH14061.1.
AK314097 mRNA. Translation: BAG36792.1.
DQ145941 Genomic DNA. Translation: AAZ38721.1.
AL162417 Genomic DNA. Translation: CAI13418.1.
AL162417 Genomic DNA. Translation: CAI13420.1.
CH471090 Genomic DNA. Translation: EAW88045.1.
BC032499 mRNA. Translation: AAH32499.1.
CCDSiCCDS65175.1. [Q8N5D6-3]
CCDS65176.1. [Q8N5D6-2]
CCDS6960.1. [Q8N5D6-1]
RefSeqiNP_001269558.1. NM_001282629.1. [Q8N5D6-2]
NP_001269561.1. NM_001282632.1. [Q8N5D6-3]
NP_001275501.1. NM_001288572.1.
NP_001275502.1. NM_001288573.1.
NP_068836.2. NM_021996.5. [Q8N5D6-1]
UniGeneiHs.495419.

Genome annotation databases

EnsembliENST00000372040; ENSP00000361110; ENSG00000148288. [Q8N5D6-1]
ENST00000372043; ENSP00000361113; ENSG00000148288. [Q8N5D6-2]
ENST00000540636; ENSP00000437663; ENSG00000148288. [Q8N5D6-3]
GeneIDi26301.
KEGGihsa:26301.
UCSCiuc004ccw.3. human. [Q8N5D6-1]
uc011mcx.2. human.

Polymorphism databases

DMDMi67464687.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

SeattleSNPs
Functional Glycomics Gateway - GTase

Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF163572 Transcribed RNA. Translation: AAF06145.1 .
AY358175 mRNA. Translation: AAQ88542.1 .
AK074639 mRNA. Translation: BAC11106.1 .
AK291498 mRNA. Translation: BAF84187.1 .
AK303825 mRNA. Translation: BAH14061.1 .
AK314097 mRNA. Translation: BAG36792.1 .
DQ145941 Genomic DNA. Translation: AAZ38721.1 .
AL162417 Genomic DNA. Translation: CAI13418.1 .
AL162417 Genomic DNA. Translation: CAI13420.1 .
CH471090 Genomic DNA. Translation: EAW88045.1 .
BC032499 mRNA. Translation: AAH32499.1 .
CCDSi CCDS65175.1. [Q8N5D6-3 ]
CCDS65176.1. [Q8N5D6-2 ]
CCDS6960.1. [Q8N5D6-1 ]
RefSeqi NP_001269558.1. NM_001282629.1. [Q8N5D6-2 ]
NP_001269561.1. NM_001282632.1. [Q8N5D6-3 ]
NP_001275501.1. NM_001288572.1.
NP_001275502.1. NM_001288573.1.
NP_068836.2. NM_021996.5. [Q8N5D6-1 ]
UniGenei Hs.495419.

3D structure databases

ProteinModelPortali Q8N5D6.
SMRi Q8N5D6. Positions 66-338.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q8N5D6. 1 interaction.
STRINGi 9606.ENSP00000361110.

Protein family/group databases

CAZyi GT6. Glycosyltransferase Family 6.

Polymorphism databases

DMDMi 67464687.

Proteomic databases

PaxDbi Q8N5D6.
PRIDEi Q8N5D6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000372040 ; ENSP00000361110 ; ENSG00000148288 . [Q8N5D6-1 ]
ENST00000372043 ; ENSP00000361113 ; ENSG00000148288 . [Q8N5D6-2 ]
ENST00000540636 ; ENSP00000437663 ; ENSG00000148288 . [Q8N5D6-3 ]
GeneIDi 26301.
KEGGi hsa:26301.
UCSCi uc004ccw.3. human. [Q8N5D6-1 ]
uc011mcx.2. human.

Organism-specific databases

CTDi 26301.
GeneCardsi GC09M136028.
HGNCi HGNC:20460. GBGT1.
HPAi HPA051298.
MIMi 606074. gene.
neXtProti NX_Q8N5D6.
PharmGKBi PA134967297.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG43612.
GeneTreei ENSGT00400000022032.
HOVERGENi HBG003563.
InParanoidi Q8N5D6.
KOi K00722.
OMAi PCPEIFN.
OrthoDBi EOG72JWGX.
PhylomeDBi Q8N5D6.
TreeFami TF330991.

Enzyme and pathway databases

UniPathwayi UPA00378 .

Miscellaneous databases

GeneWikii GBGT1.
GenomeRNAii 26301.
NextBioi 35480557.
PROi Q8N5D6.
SOURCEi Search...

Gene expression databases

Bgeei Q8N5D6.
CleanExi HS_GBGT1.
ExpressionAtlasi Q8N5D6. baseline and differential.
Genevestigatori Q8N5D6.

Family and domain databases

Gene3Di 3.90.550.10. 1 hit.
InterProi IPR005076. Glyco_trans_6.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view ]
PANTHERi PTHR10462. PTHR10462. 1 hit.
Pfami PF03414. Glyco_transf_6. 1 hit.
[Graphical view ]
SUPFAMi SSF53448. SSF53448. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of the human Forssman synthetase gene: an evolving association between glycolipid synthesis and host-microbial interactions."
    Xu H., Storch T., Yu M., Elliott S.P., Haslam D.B.
    J. Biol. Chem. 274:29390-29398(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), LACK OF FORSSMAN SYNTHASE ACTIVITY, TISSUE SPECIFICITY.
    Tissue: Substantia nigra.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PHE-20.
  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] (ISOFORMS 1; 2 AND 3), VARIANT PHE-20.
    Tissue: Adrenal gland, Embryo and Lung.
  4. SeattleSNPs variation discovery resource
    Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS PHE-20; GLY-21; PRO-79; TRP-163; ASN-200; PRO-238; ILE-248 AND PHE-291.
  5. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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), VARIANT PHE-20.
    Tissue: Pancreas.

Entry informationi

Entry nameiGBGT1_HUMAN
AccessioniPrimary (citable) accession number: Q8N5D6
Secondary accession number(s): A8K633
, B2RA95, B7Z8S5, Q45F07, Q5T7U9, Q5T7V1, Q8N2K4, Q9UKI5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: May 10, 2005
Last modified: October 29, 2014
This is version 107 of the entry and version 2 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 9
    Human chromosome 9: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3