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Q00973

- B4GN1_HUMAN

UniProt

Q00973 - B4GN1_HUMAN

Protein

Beta-1,4 N-acetylgalactosaminyltransferase 1

Gene

B4GALNT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 2 (01 Nov 1995)
      Previous versions | rss
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    Functioni

    Involved in the biosynthesis of gangliosides GM2, GD2 and GA2.

    Catalytic activityi

    UDP-N-acetyl-alpha-D-galactosamine + O-(N-acetyl-alpha-neuraminyl)-(2->3)-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl-(1<->1)-ceramide = UDP + O-2-(acetylamino)-2-deoxy-beta-D-galactopyranosyl-(1->4)-O-(N-acetyl-alpha-neuraminyl-(2->3))-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl-(1<->1)-ceramide.

    Pathwayi

    GO - Molecular functioni

    1. (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity Source: ProtInc

    GO - Biological processi

    1. carbohydrate metabolic process Source: ProtInc
    2. cell death Source: UniProtKB-KW
    3. ganglioside biosynthetic process Source: Ensembl
    4. glycosphingolipid metabolic process Source: ProtInc
    5. lipid glycosylation Source: InterPro
    6. lipid storage Source: Ensembl
    7. protein glycosylation Source: UniProtKB-UniPathway
    8. spermatogenesis Source: Ensembl

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT12. Glycosyltransferase Family 12.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Beta-1,4 N-acetylgalactosaminyltransferase 1 (EC:2.4.1.92)
    Alternative name(s):
    (N-acetylneuraminyl)-galactosylglucosylceramide
    GM2/GD2 synthase
    GalNAc-T
    Gene namesi
    Name:B4GALNT1
    Synonyms:GALGT, SIAT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:4117. B4GALNT1.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of Golgi membrane Source: InterPro
    2. membrane Source: ProtInc
    3. plasma membrane Source: Ensembl

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG26 is a complicated form characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti300 – 3001R → C in SPG26. 1 Publication
    VAR_070235
    Natural varianti433 – 4331D → A in SPG26. 1 Publication
    VAR_070236

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

    MIMi609195. phenotype.
    Orphaneti101006. Autosomal recessive spastic paraplegia type 26.
    PharmGKBiPA28532.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 533533Beta-1,4 N-acetylgalactosaminyltransferase 1PRO_0000059100Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi79 – 791N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi80 – 80Interchain (with C-412)1 Publication
    Disulfide bondi82 – 82Interchain (with C-529)1 Publication
    Glycosylationi179 – 1791N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi274 – 2741N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi412 – 412Interchain (with C-80)1 Publication
    Disulfide bondi429 ↔ 4761 Publication
    Disulfide bondi529 – 529Interchain (with C-82)1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ00973.
    PaxDbiQ00973.
    PRIDEiQ00973.

    PTM databases

    PhosphoSiteiQ00973.

    Expressioni

    Gene expression databases

    ArrayExpressiQ00973.
    BgeeiQ00973.
    CleanExiHS_B4GALNT1.
    GenevestigatoriQ00973.

    Organism-specific databases

    HPAiHPA008968.
    HPA015128.

    Interactioni

    Subunit structurei

    Homodimer; disulfide-linked.1 Publication

    Protein-protein interaction databases

    BioGridi108856. 2 interactions.
    STRINGi9606.ENSP00000341562.

    Structurei

    3D structure databases

    ProteinModelPortaliQ00973.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 77CytoplasmicSequence Analysis
    Topological domaini26 – 533508LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2518Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 2 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG40821.
    HOGENOMiHOG000220853.
    HOVERGENiHBG004812.
    InParanoidiQ00973.
    KOiK00725.
    OMAiIEHYLMP.
    OrthoDBiEOG7R2BJS.
    PhylomeDBiQ00973.
    TreeFamiTF332297.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR001173. Glyco_trans_2-like.
    IPR011143. GM2_synthase.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PfamiPF00535. Glycos_transf_2. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000474. GM2_GD2_synthase. 1 hit.
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q00973-1) [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

    MWLGRRALCA LVLLLACASL GLLYASTRDA PGLRLPLAPW APPQSPRRPE    50
    LPDLAPEPRY AHIPVRIKEQ VVGLLAWNNC SCESSGGGLP LPFQKQVRAI 100
    DLTKAFDPAE LRAASATREQ EFQAFLSRSQ SPADQLLIAP ANSPLQYPLQ 150
    GVEVQPLRSI LVPGLSLQAA SGQEVYQVNL TASLGTWDVA GEVTGVTLTG 200
    EGQADLTLVS PGLDQLNRQL QLVTYSSRSY QTNTADTVRF STEGHEAAFT 250
    IRIRHPPNPR LYPPGSLPQG AQYNISALVT IATKTFLRYD RLRALITSIR 300
    RFYPTVTVVI ADDSDKPERV SGPYVEHYLM PFGKGWFAGR NLAVSQVTTK 350
    YVLWVDDDFV FTARTRLERL VDVLERTPLD LVGGAVREIS GFATTYRQLL 400
    SVEPGAPGLG NCLRQRRGFH HELVGFPGCV VTDGVVNFFL ARTDKVREVG 450
    FDPRLSRVAH LEFFLDGLGS LRVGSCSDVV VDHASKLKLP WTSRDAGAET 500
    YARYRYPGSL DESQMAKHRL LFFKHRLQCM TSQ 533
    Length:533
    Mass (Da):58,882
    Last modified:November 1, 1995 - v2
    Checksum:i533946E05E2A102B
    GO
    Isoform 2 (identifier: Q00973-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         74-128: Missing.

    Show »
    Length:478
    Mass (Da):52,860
    Checksum:i6C41F497A0E2E255
    GO
    Isoform 3 (identifier: Q00973-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         238-328: VRFSTEGHEA...RVSGPYVEHY → GARPGWRDGQ...TVGGPRKRLV
         329-533: Missing.

    Show »
    Length:328
    Mass (Da):35,471
    Checksum:i451A27EC0E75259C
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti35 – 351L → V.
    Corresponds to variant rs774896 [ dbSNP | Ensembl ].
    VAR_012052
    Natural varianti172 – 1721G → R.
    Corresponds to variant rs810205 [ dbSNP | Ensembl ].
    VAR_012053
    Natural varianti300 – 3001R → C in SPG26. 1 Publication
    VAR_070235
    Natural varianti433 – 4331D → A in SPG26. 1 Publication
    VAR_070236
    Natural varianti516 – 5161A → V.
    Corresponds to variant rs17454674 [ dbSNP | Ensembl ].
    VAR_049237

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei74 – 12855Missing in isoform 2. 1 PublicationVSP_055039Add
    BLAST
    Alternative sequencei238 – 32891VRFST…YVEHY → GARPGWRDGQAGQTEKNQKG WSGQMAEGMGGIWAMARAVQ PHNGCFNWTSRARGRKGAFV HLGLEQARGKPEPWVCLPFR PTVGGPRKRLV in isoform 3. 1 PublicationVSP_055040Add
    BLAST
    Alternative sequencei329 – 533205Missing in isoform 3. 1 PublicationVSP_055041Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M83651 mRNA. Translation: AAA35516.1.
    AK293432 mRNA. Translation: BAG56937.1.
    AC025165 Genomic DNA. No translation available.
    BC029828 mRNA. Translation: AAH29828.1.
    CCDSiCCDS61170.1. [Q00973-2]
    CCDS61171.1. [Q00973-3]
    CCDS8950.1. [Q00973-1]
    PIRiA44128.
    A54379.
    RefSeqiNP_001263397.1. NM_001276468.1.
    NP_001263398.1. NM_001276469.1.
    NP_001469.1. NM_001478.4.
    UniGeneiHs.159481.

    Genome annotation databases

    EnsembliENST00000341156; ENSP00000341562; ENSG00000135454. [Q00973-1]
    ENST00000418555; ENSP00000401601; ENSG00000135454. [Q00973-2]
    ENST00000550764; ENSP00000450303; ENSG00000135454. [Q00973-3]
    ENST00000552350; ENSP00000448500; ENSG00000135454. [Q00973-3]
    GeneIDi2583.
    KEGGihsa:2583.
    UCSCiuc001spg.2. human. [Q00973-1]

    Polymorphism databases

    DMDMi1168736.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    Beta-1,4 N-acetylgalactosaminyltransferase 1

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M83651 mRNA. Translation: AAA35516.1 .
    AK293432 mRNA. Translation: BAG56937.1 .
    AC025165 Genomic DNA. No translation available.
    BC029828 mRNA. Translation: AAH29828.1 .
    CCDSi CCDS61170.1. [Q00973-2 ]
    CCDS61171.1. [Q00973-3 ]
    CCDS8950.1. [Q00973-1 ]
    PIRi A44128.
    A54379.
    RefSeqi NP_001263397.1. NM_001276468.1.
    NP_001263398.1. NM_001276469.1.
    NP_001469.1. NM_001478.4.
    UniGenei Hs.159481.

    3D structure databases

    ProteinModelPortali Q00973.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108856. 2 interactions.
    STRINGi 9606.ENSP00000341562.

    Protein family/group databases

    CAZyi GT12. Glycosyltransferase Family 12.

    PTM databases

    PhosphoSitei Q00973.

    Polymorphism databases

    DMDMi 1168736.

    Proteomic databases

    MaxQBi Q00973.
    PaxDbi Q00973.
    PRIDEi Q00973.

    Protocols and materials databases

    DNASUi 2583.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000341156 ; ENSP00000341562 ; ENSG00000135454 . [Q00973-1 ]
    ENST00000418555 ; ENSP00000401601 ; ENSG00000135454 . [Q00973-2 ]
    ENST00000550764 ; ENSP00000450303 ; ENSG00000135454 . [Q00973-3 ]
    ENST00000552350 ; ENSP00000448500 ; ENSG00000135454 . [Q00973-3 ]
    GeneIDi 2583.
    KEGGi hsa:2583.
    UCSCi uc001spg.2. human. [Q00973-1 ]

    Organism-specific databases

    CTDi 2583.
    GeneCardsi GC12M058019.
    HGNCi HGNC:4117. B4GALNT1.
    HPAi HPA008968.
    HPA015128.
    MIMi 601873. gene.
    609195. phenotype.
    neXtProti NX_Q00973.
    Orphaneti 101006. Autosomal recessive spastic paraplegia type 26.
    PharmGKBi PA28532.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40821.
    HOGENOMi HOG000220853.
    HOVERGENi HBG004812.
    InParanoidi Q00973.
    KOi K00725.
    OMAi IEHYLMP.
    OrthoDBi EOG7R2BJS.
    PhylomeDBi Q00973.
    TreeFami TF332297.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .

    Miscellaneous databases

    GeneWikii B4GALNT1.
    GenomeRNAii 2583.
    NextBioi 10219.
    PROi Q00973.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q00973.
    Bgeei Q00973.
    CleanExi HS_B4GALNT1.
    Genevestigatori Q00973.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR001173. Glyco_trans_2-like.
    IPR011143. GM2_synthase.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    Pfami PF00535. Glycos_transf_2. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000474. GM2_GD2_synthase. 1 hit.
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides."
      Nagata Y., Yamashiro S., Yodoi J., Lloyd K.O., Shiku H., Furukawa K.
      J. Biol. Chem. 267:12082-12089(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides."
      Nagata Y., Yamashiro S., Yodoi J., Lloyd K.O., Shiku H., Furukawa K.
      J. Biol. Chem. 269:7045-7045(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION TO 412-533.
    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 2).
    4. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(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] (ISOFORM 3).
      Tissue: Brain.
    6. "Disulfide bonds of GM2 synthase homodimers. Antiparallel orientation of the catalytic domains."
      Li J., Yen T.Y., Allende M.L., Joshi R.K., Cai J., Pierce W.M., Jaskiewicz E., Darling D.S., Macher B.A., Young W.W. Jr.
      J. Biol. Chem. 275:41476-41486(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISULFIDE BONDS.
    7. Cited for: VARIANTS SPG26 CYS-300 AND ALA-433.

    Entry informationi

    Entry nameiB4GN1_HUMAN
    AccessioniPrimary (citable) accession number: Q00973
    Secondary accession number(s): B4DE26, Q8N636
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: November 1, 1995
    Last modified: October 1, 2014
    This is version 141 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 12
      Human chromosome 12: 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