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P04066 (FUCO_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 154. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Tissue alpha-L-fucosidase

EC=3.2.1.51
Alternative name(s):
Alpha-L-fucosidase I
Alpha-L-fucoside fucohydrolase 1
Short name=Alpha-L-fucosidase 1
Gene names
Name:FUCA1
ORF Names:Nbla10230
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length466 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.

Catalytic activity

An alpha-L-fucoside + H2O = L-fucose + an alcohol.

Subunit structure

Homotetramer.

Subcellular location

Lysosome.

Polymorphism

There are two common alleles of FUCA1; FUCA1*1; also known as Fu1; has Arg-281 and FUCA1*2; also known as Fu2; has Gln-281.

Involvement in disease

Fucosidosis (FUCA1D) [MIM:230000]: An autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.16 Ref.18

Sequence similarities

Belongs to the glycosyl hydrolase 29 family.

Sequence caution

The sequence AAA35519.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAA52481.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAH17338.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAG37210.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence CAA25646.1 differs from that shown. Reason: Translation of X01390 sequence produces a larger peptide than that shown in CAA25646.1.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3131 Potential
Chain32 – 466435Tissue alpha-L-fucosidase
PRO_0000010308

Sites

Site2961May be important for catalysis

Amino acid modifications

Modified residue1701Phosphothreonine Ref.14
Glycosylation2411N-linked (GlcNAc...) Ref.12
Glycosylation2681N-linked (GlcNAc...) Potential
Glycosylation3821N-linked (GlcNAc...) Ref.12

Natural variations

Natural variant21R → W.
Corresponds to variant rs2070955 [ dbSNP | Ensembl ].
VAR_049106
Natural variant101P → R.
Corresponds to variant rs2070956 [ dbSNP | Ensembl ].
VAR_016233
Natural variant651G → D in FUCA1D; loss of activity. Ref.1
VAR_002442
Natural variant681S → L in FUCA1D. Ref.16
VAR_002443
Natural variant1461P → L.
Corresponds to variant rs2228424 [ dbSNP | Ensembl ].
VAR_049107
Natural variant2601V → I.
Corresponds to variant rs665 [ dbSNP | Ensembl ].
VAR_049108
Natural variant2691C → S. Ref.6 Ref.10 Ref.20
Corresponds to variant rs1126512 [ dbSNP | Ensembl ].
VAR_016234
Natural variant2861Q → R in allele FUCA1*2. Ref.1 Ref.3 Ref.15 Ref.17 Ref.20
Corresponds to variant rs13551 [ dbSNP | Ensembl ].
VAR_002444
Natural variant4101L → R in FUCA1D; less than 1% of residual activity. Ref.18
VAR_016235

Experimental info

Sequence conflict54 – 563DEA → NEV in BAC04002. Ref.3
Sequence conflict741S → T no nucleotide entry Ref.7
Sequence conflict76 – 772WF → FL in AAA52482. Ref.8
Sequence conflict76 – 772WF → FL in CAA25646. Ref.9
Sequence conflict93 – 11422Missing in BAC04002. Ref.3
Sequence conflict1271A → T in BAC04002. Ref.3
Sequence conflict1711A → G in BAC04002. Ref.3
Sequence conflict2441N → D in BAC04002. Ref.3
Sequence conflict4271Q → P in AAA52482. Ref.8

Sequences

Sequence LengthMass (Da)Tools
P04066 [UniParc].

Last modified July 24, 2007. Version 4.
Checksum: D9A38ECC7BADCBBB

FASTA46653,689
        10         20         30         40         50         60 
MRAPGMRSRP AGPALLLLLL FLGAAESVRR AQPPRRYTPD WPSLDSRPLP AWFDEAKFGV 

        70         80         90        100        110        120 
FIHWGVFSVP AWGSEWFWWH WQGEGRPQYQ RFMRDNYPPG FSYADFGPQF TARFFHPEEW 

       130        140        150        160        170        180 
ADLFQAAGAK YVVLTTKHHE GFTNWPSPVS WNWNSKDVGP HRDLVGELGT ALRKRNIRYG 

       190        200        210        220        230        240 
LYHSLLEWFH PLYLLDKKNG FKTQHFVSAK TMPELYDLVN SYKPDLIWSD GEWECPDTYW 

       250        260        270        280        290        300 
NSTNFLSWLY NDSPVKDEVV VNDRWGQNCS CHHGGYYNCE DKFKPQSLPD HKWEMCTSID 

       310        320        330        340        350        360 
KFSWGYRRDM ALSDVTEESE IISELVQTVS LGGNYLLNIG PTKDGLIVPI FQERLLAVGK 

       370        380        390        400        410        420 
WLSINGEAIY ASKPWRVQWE KNTTSVWYTS KGSAVYAIFL HWPENGVLNL ESPITTSTTK 

       430        440        450        460 
ITMLGIQGDL KWSTDPDKGL FISLPQLPPS AVPAEFAWTI KLTGVK 

« Hide

References

« Hide 'large scale' references
[1]"Fucosidosis: four new mutations and a new polymorphism."
Seo H.-C., Willems P.J., Kretz K.A., Martin B.M., O'Brien J.S.
Hum. Mol. Genet. 2:423-429(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT FUCA1D ASP-65, VARIANT ARG-286.
[2]"Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma."
Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K., Hamano S., Machida T., Aoyama M., Fukumura M., Miyazaki K., Suzuki Y., Sugano S., Hirato J., Nakagawara A.
Cancer Lett. 197:63-68(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Neuroblastoma.
[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], VARIANT ARG-286.
Tissue: Spleen and Umbilical cord blood.
[4]"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. expand/collapse author list , 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].
[5]"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].
Tissue: Skin.
[6]"Human alpha-L-fucosidase: complete coding sequence from cDNA clones."
Occhiodoro T., Beckmann K.R., Morris C.P., Hopwood J.J.
Biochem. Biophys. Res. Commun. 164:439-445(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-466, VARIANT SER-269.
[7]"Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase."
Fukushima H., Nishimoto J., Okada S.
J. Inherit. Metab. Dis. 13:761-765(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3-92.
Tissue: Placenta.
[8]"Molecular cloning of a cDNA for human alpha-L-fucosidase."
Fukushima H., de Wet J.R., O'Brien J.S.
Proc. Natl. Acad. Sci. U.S.A. 82:1262-1265(1985) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 75-427.
[9]"Chromogenic immunodetection of human serum albumin and alpha-L-fucosidase clones in a human hepatoma cDNA expression library."
de Wet J.R., Fukushima H., Dewji N.N., Wilcox E., O'Brien J.S., Helinski D.R.
DNA 3:437-447(1984) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 75-426.
[10]"Molecular biology of the alpha-6L-fucosidase gene and fucosidosis."
O'Brien J.S., Willems P.J., Fukushima H., de Wet J.R., Darby J.K., Dicioccio R.A., Fowler M.L., Shows T.B.
Enzyme 38:45-53(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 75-426, VARIANT SER-269.
[11]"Structural analysis of the carbohydrate moieties of alpha-L-fucosidase from human liver."
Beem E.P., Lisman J.J.W., van Steijn G.J., van der Wal C.J., Trippelvitz L.A.W., Overdijk B., van Halbeek H., Mutsaers J.H.G.M., Vliegenthart J.F.G.
Glycoconj. J. 4:33-42(1987)
Cited for: STRUCTURE OF CARBOHYDRATES.
[12]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-241 AND ASN-382.
Tissue: Liver.
[13]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-170, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]"Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family."
Yang M., Allen H., Dicioccio R.A.
Biochim. Biophys. Acta 1182:245-249(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ARG-286.
[16]"A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient."
Seo H.-C., Yang M., Tonlorenzi R., Willems P.J., Kim A.H., Filocamo M., Gatti R., Dicioccio R.A., O'Brien J.S.
Hum. Mol. Genet. 3:2065-2066(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FUCA1D LEU-68.
[17]"Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase."
Cragg H., Winchester B., Seo H.-C., O'Brien J.S., Swallow D.
J. Med. Genet. 31:659-660(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ARG-286.
[18]"A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene."
Fleming C.J., Sinclair D.U., White E.J., Winchester B., Whiteford M.L., Connor J.M.
J. Inherit. Metab. Dis. 21:688-689(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FUCA1D ARG-410.
[19]"Spectrum of mutations in fucosidosis."
Willems P.J., Seo H.-C., Coucke P., Tonlorenzi R., O'Brien J.S.
Eur. J. Hum. Genet. 7:60-67(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON VARIANTS.
[20]"A novel FUCA1 mutation causing fucosidosis in a Chinese boy."
Ip P., Goh W., Chan K.W., Cheung P.T.
J. Inherit. Metab. Dis. 25:415-416(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SER-269 AND ARG-286.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M80815 expand/collapse EMBL AC list , M80809, M80810, M80811, M80812, M80813, M80814 Genomic DNA. Translation: AAA52481.1. Different initiation.
AB074175 mRNA. Translation: BAE45738.1.
AK092914 mRNA. Translation: BAC04002.1.
AK314649 mRNA. Translation: BAG37210.1. Different initiation.
AL590728 Genomic DNA. Translation: CAH74004.2.
BC017338 mRNA. Translation: AAH17338.1. Different initiation.
M29877 mRNA. Translation: AAA35519.1. Different initiation.
M10355 mRNA. Translation: AAA52482.1.
X01390 mRNA. Translation: CAA25646.1. Sequence problems.
CCDSCCDS244.2.
PIRHWHUFA. A33427.
RefSeqNP_000138.2. NM_000147.4.
UniGeneHs.370858.

3D structure databases

ProteinModelPortalP04066.
SMRP04066. Positions 36-449.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108793. 7 interactions.
IntActP04066. 3 interactions.
STRING9606.ENSP00000363603.

Chemistry

BindingDBP04066.
ChEMBLCHEMBL4176.

Protein family/group databases

CAZyGH29. Glycoside Hydrolase Family 29.

PTM databases

PhosphoSiteP04066.

Polymorphism databases

DMDM156631012.

Proteomic databases

MaxQBP04066.
PaxDbP04066.
PRIDEP04066.

Protocols and materials databases

DNASU2517.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000374479; ENSP00000363603; ENSG00000179163.
GeneID2517.
KEGGhsa:2517.
UCSCuc001bie.3. human.

Organism-specific databases

CTD2517.
GeneCardsGC01M024171.
HGNCHGNC:4006. FUCA1.
HPAHPA046542.
MIM230000. phenotype.
612280. gene.
neXtProtNX_P04066.
Orphanet349. Fucosidosis.
PharmGKBPA28422.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3669.
HOGENOMHOG000029598.
HOVERGENHBG002155.
InParanoidP04066.
KOK01206.
OMAIFLHWPD.
OrthoDBEOG7DC249.
PhylomeDBP04066.
TreeFamTF313034.

Enzyme and pathway databases

BRENDA3.2.1.51. 2681.
SABIO-RKP04066.

Gene expression databases

ArrayExpressP04066.
BgeeP04066.
CleanExHS_FUCA1.
GenevestigatorP04066.

Family and domain databases

Gene3D2.60.40.1180. 1 hit.
3.20.20.80. 1 hit.
InterProIPR016286. FUC_metazoa-typ.
IPR028755. FUCA1.
IPR013780. Glyco_hydro_13_b.
IPR000933. Glyco_hydro_29.
IPR018526. Glyco_hydro_29_CS.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PANTHERPTHR10030. PTHR10030. 1 hit.
PTHR10030:SF2. PTHR10030:SF2. 1 hit.
PfamPF01120. Alpha_L_fucos. 1 hit.
[Graphical view]
PIRSFPIRSF001092. Alpha-L-fucosidase. 1 hit.
PRINTSPR00741. GLHYDRLASE29.
SMARTSM00812. Alpha_L_fucos. 1 hit.
[Graphical view]
SUPFAMSSF51445. SSF51445. 1 hit.
PROSITEPS00385. ALPHA_L_FUCOSIDASE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFucosidase.
GenomeRNAi2517.
NextBio9913.
PROP04066.
SOURCESearch...

Entry information

Entry nameFUCO_HUMAN
AccessionPrimary (citable) accession number: P04066
Secondary accession number(s): B2RBG3 expand/collapse secondary AC list , Q14334, Q14335, Q3LID0, Q8NAC2
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1986
Last sequence update: July 24, 2007
Last modified: July 9, 2014
This is version 154 of the entry and version 4 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 1

Human chromosome 1: entries, gene names and cross-references to MIM

Glycosyl hydrolases

Classification of glycosyl hydrolase families and list of entries