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Q00973

- B4GN1_HUMAN

UniProt

Q00973 - B4GN1_HUMAN

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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

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77CytoplasmicSequence Analysis
Transmembranei8 – 2518Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini26 – 533508LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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

BgeeiQ00973.
CleanExiHS_B4GALNT1.
ExpressionAtlasiQ00973. baseline and differential.
GenevestigatoriQ00973.

Organism-specific databases

HPAiHPA008968.
HPA015128.

Interactioni

Subunit structurei

Homodimer; disulfide-linked.1 Publication

Protein-protein interaction databases

BioGridi108856. 3 interactions.
STRINGi9606.ENSP00000341562.

Structurei

3D structure databases

ProteinModelPortaliQ00973.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 2 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG40821.
GeneTreeiENSGT00390000006679.
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

        10         20         30         40         50
MWLGRRALCA LVLLLACASL GLLYASTRDA PGLRLPLAPW APPQSPRRPE
60 70 80 90 100
LPDLAPEPRY AHIPVRIKEQ VVGLLAWNNC SCESSGGGLP LPFQKQVRAI
110 120 130 140 150
DLTKAFDPAE LRAASATREQ EFQAFLSRSQ SPADQLLIAP ANSPLQYPLQ
160 170 180 190 200
GVEVQPLRSI LVPGLSLQAA SGQEVYQVNL TASLGTWDVA GEVTGVTLTG
210 220 230 240 250
EGQADLTLVS PGLDQLNRQL QLVTYSSRSY QTNTADTVRF STEGHEAAFT
260 270 280 290 300
IRIRHPPNPR LYPPGSLPQG AQYNISALVT IATKTFLRYD RLRALITSIR
310 320 330 340 350
RFYPTVTVVI ADDSDKPERV SGPYVEHYLM PFGKGWFAGR NLAVSQVTTK
360 370 380 390 400
YVLWVDDDFV FTARTRLERL VDVLERTPLD LVGGAVREIS GFATTYRQLL
410 420 430 440 450
SVEPGAPGLG NCLRQRRGFH HELVGFPGCV VTDGVVNFFL ARTDKVREVG
460 470 480 490 500
FDPRLSRVAH LEFFLDGLGS LRVGSCSDVV VDHASKLKLP WTSRDAGAET
510 520 530
YARYRYPGSL DESQMAKHRL LFFKHRLQCM TSQ
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:
EMBLi
GenBanki
DDBJi
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. [Q00973-2]
NP_001263398.1. NM_001276469.1. [Q00973-3]
NP_001469.1. NM_001478.4. [Q00973-1]
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]
uc001spi.4. human.
uc010sru.3. human.

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:
EMBLi
GenBanki
DDBJi
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. [Q00973-2 ]
NP_001263398.1. NM_001276469.1. [Q00973-3 ]
NP_001469.1. NM_001478.4. [Q00973-1 ]
UniGenei Hs.159481.

3D structure databases

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

Protein-protein interaction databases

BioGridi 108856. 3 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 ]
uc001spi.4. human.
uc010sru.3. human.

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.
GeneTreei ENSGT00390000006679.
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

Bgeei Q00973.
CleanExi HS_B4GALNT1.
ExpressionAtlasi Q00973. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 142 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