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Q9Y2D2

- S35A3_HUMAN

UniProt

Q9Y2D2 - S35A3_HUMAN

Protein

UDP-N-acetylglucosamine transporter

Gene

SLC35A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
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    Functioni

    Uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) transporter in the Golgi apparatus. May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate branching of diantennary oligosaccharides.1 Publication

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. sugar:proton symporter activity Source: InterPro
    3. UDP-N-acetylglucosamine transmembrane transporter activity Source: ProtInc

    GO - Biological processi

    1. transmembrane transport Source: Reactome
    2. UDP-N-acetylglucosamine metabolic process Source: ProtInc
    3. UDP-N-acetylglucosamine transport Source: UniProtKB

    Keywords - Biological processi

    Sugar transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_22151. Transport of nucleotide sugars.

    Protein family/group databases

    TCDBi2.A.7.12.7. the drug/metabolite transporter (dmt) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    UDP-N-acetylglucosamine transporter
    Alternative name(s):
    Golgi UDP-GlcNAc transporter
    Solute carrier family 35 member A3
    Gene namesi
    Name:SLC35A3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:11023. SLC35A3.

    Subcellular locationi

    Golgi apparatus membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. Golgi apparatus Source: ProtInc
    2. Golgi membrane Source: Reactome
    3. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Arthrogryposis, mental retardation, and seizures (AMRS) [MIM:615553]: A disease characterized by arthrogryposis, mental retardation, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry. In Golgi vesicles isolated from patient fibroblasts the transport of the respective nucleotide sugar is significantly reduced causing a massive decrease in the content of cell surface expressed highly branched N-glycans and a concomitant sharp increase of lower branched glycoforms.

    Keywords - Diseasei

    Epilepsy, Mental retardation

    Organism-specific databases

    MIMi615553. phenotype.
    Orphaneti370943. Autism spectrum disorder-epilepsy-arthrogryposis syndrome.
    PharmGKBiPA35891.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 325325UDP-N-acetylglucosamine transporterPRO_0000213357Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y2D2.
    PaxDbiQ9Y2D2.
    PRIDEiQ9Y2D2.

    PTM databases

    PhosphoSiteiQ9Y2D2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9Y2D2.
    BgeeiQ9Y2D2.
    CleanExiHS_SLC35A3.
    GenevestigatoriQ9Y2D2.

    Organism-specific databases

    HPAiHPA015253.

    Interactioni

    Subunit structurei

    Interacts with SLC35A2.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    SLC35A2P78381-13EBI-3917581,EBI-8101118
    SLC35A2P78381-22EBI-3917581,EBI-8101093

    Protein-protein interaction databases

    BioGridi117010. 3 interactions.
    IntActiQ9Y2D2. 3 interactions.
    MINTiMINT-4781806.
    STRINGi9606.ENSP00000359174.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y2D2.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2417HelicalSequence AnalysisAdd
    BLAST
    Transmembranei42 – 5817HelicalSequence AnalysisAdd
    BLAST
    Transmembranei138 – 15417HelicalSequence AnalysisAdd
    BLAST
    Transmembranei173 – 18917HelicalSequence AnalysisAdd
    BLAST
    Transmembranei209 – 22517HelicalSequence AnalysisAdd
    BLAST
    Transmembranei246 – 26217HelicalSequence AnalysisAdd
    BLAST
    Transmembranei268 – 28417HelicalSequence AnalysisAdd
    BLAST
    Transmembranei295 – 31117HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0697.
    HOGENOMiHOG000216649.
    HOVERGENiHBG054025.
    InParanoidiQ9Y2D2.
    KOiK15272.
    OrthoDBiEOG7NCV4D.
    PhylomeDBiQ9Y2D2.
    TreeFamiTF315345.

    Family and domain databases

    InterProiIPR007271. Nuc_sug_transpt.
    IPR021189. UDP/CMP-sugar_transptr.
    IPR004689. UDPgal_transpt.
    [Graphical view]
    PANTHERiPTHR10231. PTHR10231. 1 hit.
    PfamiPF04142. Nuc_sug_transp. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005799. UDP-gal_transpt. 1 hit.
    TIGRFAMsiTIGR00803. nst. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y2D2-1) [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

    MFANLKYVSL GILVFQTTSL VLTMRYSRTL KEEGPRYLSS TAVVVAELLK    50
    IMACILLVYK DSKCSLRALN RVLHDEILNK PMETLKLAIP SGIYTLQNNL 100
    LYVALSNLDA ATYQVTYQLK ILTTALFSVS MLSKKLGVYQ WLSLVILMTG 150
    VAFVQWPSDS QLDSKELSAG SQFVGLMAVL TACFSSGFAG VYFEKILKET 200
    KQSVWIRNIQ LGFFGSIFGL MGVYIYDGEL VSKNGFFQGY NRLTWIVVVL 250
    QALGGLVIAA VIKYADNILK GFATSLSIIL STLISYFWLQ DFVPTSVFFL 300
    GAILVITATF LYGYDPKPAG NPTKA 325
    Length:325
    Mass (Da):35,985
    Last modified:November 1, 1999 - v1
    Checksum:i69DFD944E37206C8
    GO
    Isoform 2 (identifier: Q9Y2D2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MSSRSVLSPVVGTDAPDQHLELKKPQELKEMERLPLANEDKTM

    Note: No experimental confirmation available.

    Show »
    Length:367
    Mass (Da):40,685
    Checksum:i74DAFC72A15E3E74
    GO
    Isoform 3 (identifier: Q9Y2D2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         212-220: GFFGSIFGL → VSFSLEPSL
         221-325: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:220
    Mass (Da):24,545
    Checksum:i1EDE61D54973288C
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MSSRSVLSPVVGTDAPDQHL ELKKPQELKEMERLPLANED KTM in isoform 2. 1 PublicationVSP_012786
    Alternative sequencei212 – 2209GFFGSIFGL → VSFSLEPSL in isoform 3. 1 PublicationVSP_054232
    Alternative sequencei221 – 325105Missing in isoform 3. 1 PublicationVSP_054233Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB021981 mRNA. Translation: BAA77841.1.
    AK290573 mRNA. Translation: BAF83262.1.
    CR749816 mRNA. Translation: CAH18676.1.
    AC118553 Genomic DNA. No translation available.
    CH471097 Genomic DNA. Translation: EAW72977.1.
    CH471097 Genomic DNA. Translation: EAW72978.1.
    CH471097 Genomic DNA. Translation: EAW72979.1.
    BC005136 mRNA. Translation: AAH05136.1.
    CCDSiCCDS60204.1. [Q9Y2D2-2]
    CCDS60205.1. [Q9Y2D2-3]
    CCDS762.1. [Q9Y2D2-1]
    RefSeqiNP_001258613.1. NM_001271684.1. [Q9Y2D2-3]
    NP_001258614.1. NM_001271685.1. [Q9Y2D2-2]
    NP_036375.1. NM_012243.2. [Q9Y2D2-1]
    XP_005270748.1. XM_005270691.2. [Q9Y2D2-1]
    UniGeneiHs.448979.
    Hs.534953.

    Genome annotation databases

    EnsembliENST00000370153; ENSP00000359172; ENSG00000117620. [Q9Y2D2-2]
    ENST00000370155; ENSP00000359174; ENSG00000117620. [Q9Y2D2-1]
    ENST00000427993; ENSP00000414947; ENSG00000117620. [Q9Y2D2-1]
    ENST00000465289; ENSP00000418527; ENSG00000117620. [Q9Y2D2-3]
    ENST00000533028; ENSP00000433849; ENSG00000117620. [Q9Y2D2-1]
    GeneIDi23443.
    KEGGihsa:23443.
    UCSCiuc001dsp.2. human. [Q9Y2D2-1]
    uc001dsr.2. human. [Q9Y2D2-2]
    uc009wdy.2. human.

    Polymorphism databases

    DMDMi9087207.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB021981 mRNA. Translation: BAA77841.1 .
    AK290573 mRNA. Translation: BAF83262.1 .
    CR749816 mRNA. Translation: CAH18676.1 .
    AC118553 Genomic DNA. No translation available.
    CH471097 Genomic DNA. Translation: EAW72977.1 .
    CH471097 Genomic DNA. Translation: EAW72978.1 .
    CH471097 Genomic DNA. Translation: EAW72979.1 .
    BC005136 mRNA. Translation: AAH05136.1 .
    CCDSi CCDS60204.1. [Q9Y2D2-2 ]
    CCDS60205.1. [Q9Y2D2-3 ]
    CCDS762.1. [Q9Y2D2-1 ]
    RefSeqi NP_001258613.1. NM_001271684.1. [Q9Y2D2-3 ]
    NP_001258614.1. NM_001271685.1. [Q9Y2D2-2 ]
    NP_036375.1. NM_012243.2. [Q9Y2D2-1 ]
    XP_005270748.1. XM_005270691.2. [Q9Y2D2-1 ]
    UniGenei Hs.448979.
    Hs.534953.

    3D structure databases

    ProteinModelPortali Q9Y2D2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117010. 3 interactions.
    IntActi Q9Y2D2. 3 interactions.
    MINTi MINT-4781806.
    STRINGi 9606.ENSP00000359174.

    Protein family/group databases

    TCDBi 2.A.7.12.7. the drug/metabolite transporter (dmt) superfamily.

    PTM databases

    PhosphoSitei Q9Y2D2.

    Polymorphism databases

    DMDMi 9087207.

    Proteomic databases

    MaxQBi Q9Y2D2.
    PaxDbi Q9Y2D2.
    PRIDEi Q9Y2D2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370153 ; ENSP00000359172 ; ENSG00000117620 . [Q9Y2D2-2 ]
    ENST00000370155 ; ENSP00000359174 ; ENSG00000117620 . [Q9Y2D2-1 ]
    ENST00000427993 ; ENSP00000414947 ; ENSG00000117620 . [Q9Y2D2-1 ]
    ENST00000465289 ; ENSP00000418527 ; ENSG00000117620 . [Q9Y2D2-3 ]
    ENST00000533028 ; ENSP00000433849 ; ENSG00000117620 . [Q9Y2D2-1 ]
    GeneIDi 23443.
    KEGGi hsa:23443.
    UCSCi uc001dsp.2. human. [Q9Y2D2-1 ]
    uc001dsr.2. human. [Q9Y2D2-2 ]
    uc009wdy.2. human.

    Organism-specific databases

    CTDi 23443.
    GeneCardsi GC01P100435.
    HGNCi HGNC:11023. SLC35A3.
    HPAi HPA015253.
    MIMi 605632. gene.
    615553. phenotype.
    neXtProti NX_Q9Y2D2.
    Orphaneti 370943. Autism spectrum disorder-epilepsy-arthrogryposis syndrome.
    PharmGKBi PA35891.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0697.
    HOGENOMi HOG000216649.
    HOVERGENi HBG054025.
    InParanoidi Q9Y2D2.
    KOi K15272.
    OrthoDBi EOG7NCV4D.
    PhylomeDBi Q9Y2D2.
    TreeFami TF315345.

    Enzyme and pathway databases

    Reactomei REACT_22151. Transport of nucleotide sugars.

    Miscellaneous databases

    ChiTaRSi SLC35A3. human.
    GenomeRNAii 23443.
    NextBioi 45719.
    PROi Q9Y2D2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y2D2.
    Bgeei Q9Y2D2.
    CleanExi HS_SLC35A3.
    Genevestigatori Q9Y2D2.

    Family and domain databases

    InterProi IPR007271. Nuc_sug_transpt.
    IPR021189. UDP/CMP-sugar_transptr.
    IPR004689. UDPgal_transpt.
    [Graphical view ]
    PANTHERi PTHR10231. PTHR10231. 1 hit.
    Pfami PF04142. Nuc_sug_transp. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005799. UDP-gal_transpt. 1 hit.
    TIGRFAMsi TIGR00803. nst. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and functional expression of the human Golgi UDP-N-acetylglucosamine transporter."
      Ishida N., Yoshioka S., Chiba Y., Takeuchi M., Kawakita M.
      J. Biochem. 126:68-77(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION.
    2. "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).
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Colon carcinoma.
    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.
      , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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 3).
      Tissue: Placenta.
    7. "UDP-N-acetylglucosamine transporter and UDP-galactose transporter form heterologous complexes in the Golgi membrane."
      Maszczak-Seneczko D., Sosicka P., Majkowski M., Olczak T., Olczak M.
      FEBS Lett. 586:4082-4087(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SLC35A2.
    8. "Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis."
      Edvardson S., Ashikov A., Jalas C., Sturiale L., Shaag A., Fedick A., Treff N.R., Garozzo D., Gerardy-Schahn R., Elpeleg O.
      J. Med. Genet. 50:733-739(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN AMRS.

    Entry informationi

    Entry nameiS35A3_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y2D2
    Secondary accession number(s): A8K3F8
    , D3DT54, Q68CR2, Q9BSB7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 118 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3