B4GALNT1
entrez
2583
canonical
uniprot
Q00973
canonical
ensembl
ENSG00000135454
resolver
ensp
ENSP00000341562
resolver
ensp
ENSP00000401601
resolver
ensp
ENSP00000450303
resolver
ensp
ENSP00000473533
resolver
ensp
ENSP00000552471
resolver
ensp
ENSP00000624260
resolver
ensp
ENSP00000624261
resolver
ensp
ENSP00000677360
resolver
enst
ENST00000449184
resolver
genesymbol
B4GALNT1
resolver
genesymbol_syn
GALGT
resolver
genesymbol_syn
SIAT2
resolver
hgnc
HGNC:4117
resolver
uniprot
B4DE26
resolver
uniprot
B4DSP5
resolver
uniprot
Q8N636
resolver
uniprot
R4GN88
resolver
uniprot_entry
B4DSP5_HUMAN
resolver
uniprot_entry
B4GN1_HUMAN
resolver
uniprot_entry
R4GN88_HUMAN
resolver
uniprot_sec
B4DE26
resolver
uniprot_sec
Q8N636
resolver
amino_acid_sequence
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNCSCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSILVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFFLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:23746551}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.92
uniprot
proteins
function
FUNCTION: Involved in the biosynthesis of gangliosides GM2, GD2, GT2 and GA2 from GM3, GD3, GT3 and GA3, respectively. {ECO:0000269|PubMed:1601877, ECO:0000269|PubMed:7487055, ECO:0000269|PubMed:7890749}.
uniprot
proteins
mass_dalton
58882
uniprot
proteins
pathway_participation
PATHWAY: Sphingolipid metabolism. {ECO:0000269|PubMed:1601877, ECO:0000269|PubMed:7487055, ECO:0000269|PubMed:7890749}.
uniprot
proteins
protein_family
Glycosyltransferase 2 family
uniprot
proteins
pubmed
11018043
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1601877
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
23746551
uniprot
proteins
pubmed
7487055
uniprot
proteins
pubmed
7890749
uniprot
proteins
pubmed
8120069
uniprot
proteins
sequence_length
533
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:Q10468}; Single-pass type II membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..25; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins