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Gene Model: B4galt1

NomenclatureGenomic Location
SymbolB4galt1Chromosome1
NameUDP-Gal:betaGlcNAc
beta 1,4- galactosyltransferase,
polypeptide 1		Linkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr1: 16 Mbp

Molecular Function

The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.

The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix.

Molecular Function Terms:

binding
   ion binding
      cation binding
         metal ion binding
   protein binding
      cytoskeletal protein binding
         tubulin binding

catalytic activity
   transferase activity
      transferase activity, transferring glycosyl groups
         transferase activity, transferring hexosyl groups
            galactosyltransferase activity

Human Disease Association

Defects in B4GALT1 are the cause of congenital disorder of glycosylation type 2D (CDG2D) [MIM:607091]. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

Predicted Transcript
     1 TTAATAATTCCTTGTCCTATGGTCTTTTTCTTCTCAGTTGGCCCATTGCGTGTGGAGTTT
    61 TCACAAACTGTGAATTTGGAGAATGTGCAGAAGGACAACTCAGAAGTCAGGGATGGAGGC
   121 CACTACACCCCAAAGGACTGCAAAGCACTTCAGAAAGTGGCAATTATTATTCCCTTCAGA
   181 AATCGAGATGAACACTTGAAATACTGGCTGTATTATCTCCACCCCATTCTTCAAAGACAA
   241 CAGCTTGATTATGGTATATATGTAATTAACCAGGGTGGAGAGGAGACATTCAATCGTGCA
   301 AAGCTTCTAAATGTTGGCTTCAAAGAAGCTCTGAAAGACTATGACTACGACTGCTTTGTA
   361 TTTAGTGATGTTGACCTAATCCCAATGGATGACAGAAACATCTACAAGTGTTACAGCCAA
   421 CCCCGACATCTCTCAGTCTCAATGGATAAATTTAATTTTCGCTTACCTTACAACCAATAC
   481 TTTGGGGGAGTATCTGCTTTAAGCAAGGAGCAATTCCAAAAAATCAATGGGTTTCCCAAT
   541 AACTATTGGGGCTGGGGAGGTGAAGATGATGACATTTATAACAGACTAGTTTTTAAAGGC
   601 ATGGGGATTTCTCGCCCAGACGCTACAATTGGAAAATGTCGAATGATTCGCCATTCAAGA
   661 GATCACAAAAATGAACCTAACCCACAGAGGTTTAACAAAATTGCTCACACAAAGGAGACC
   721 ATGATGTCCGATGGGTTGAACACTCTGACCTACACTGTAGAAAAAACTGAGAGATTTCCG
   781 TTGTATACAAAAATCACAGTGGATATTGGATCCCCAAAAAGAACATGCCTGACTAAAGGA

Predicted Protein Product
LIIPCPMVFFFSVGPLRVEFSQTVNLENVQKDNSEVRDGGHYTPKDCKALQKVAIIIPFR
NRDEHLKYWLYYLHPILQRQQLDYGIYVINQGGEETFNRAKLLNVGFKEALKDYDYDCFV
FSDVDLIPMDDRNIYKCYSQPRHLSVSMDKFNFRLPYNQYFGGVSALSKEQFQKINGFPN
NYWGWGGEDDDIYNRLVFKGMGISRPDATIGKCRMIRHSRDHKNEPNPQRFNKIAHTKET
MMSDGLNTLTYTVEKTERFPLYTKITVDIGSPKRTCLTKG
Protein Alignment to Mouse
sp|P15535|B4GT1_MOUSE Beta-1,4-galactosyltransferase 1 OS=Mus musculus
            GN=B4galt1 PE=1 SV=1
      MGI:95705 B4galt1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 (Chr 4)
        Length = 399

 Score = 1120 (399.3 bits), Expect = 3.0e-114, P = 3.0e-114
 Identities = 202/274 (73%), Positives = 234/274 (85%)

Query:     1 LIIP-CPMVFFFSVGPLRVEFSQTVNLENVQKDNSEVRDGGHYTPKDCKALQKVAIIIPF 59
             L +P CP      VGP+ ++F+  V+LE + K N E++ GG Y+PKDC +  KVAIIIPF
Sbjct:   126 LSLPACPEESPLLVGPMLIDFNIAVDLELLAKKNPEIKTGGRYSPKDCVSPHKVAIIIPF 185

Query:    60 RNRDEHLKYWLYYLHPILQRQQLDYGIYVINQGGEETFNRAKLLNVGFKEALKDYDYDCF 119
             RNR EHLKYWLYYLHPILQRQQLDYGIYVINQ G+  FNRAKLLN+GF+EALKDYDY+CF
Sbjct:   186 RNRQEHLKYWLYYLHPILQRQQLDYGIYVINQAGDTMFNRAKLLNIGFQEALKDYDYNCF 245

Query:   120 VFSDVDLIPMDDRNIYKCYSQPRHLSVSMDKFNFRLPYNQYFGGVSALSKEQFQKINGFP 179
             VFSDVDLIPMDDRN Y+C+SQPRH+SV+MDKF F LPY QYFGGVSALSK+QF  INGFP
Sbjct:   246 VFSDVDLIPMDDRNAYRCFSQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLAINGFP 305

Query:   180 NNYWGWGGEDDDIYNRLVFKGMGISRPDATIGKCRMIRHSRDHKNEPNPQRFNKIAHTKE 239
             NNYWGWGGEDDDI+NRLV KGM ISRP+A +G+CRMIRHSRD KNEPNPQRF++IAHTKE
Sbjct:   306 NNYWGWGGEDDDIFNRLVHKGMSISRPNAVVGRCRMIRHSRDKKNEPNPQRFDRIAHTKE 365

Query:   240 TMMSDGLNTLTYTVEKTERFPLYTKITVDIGSPK 273
             TM  DGLN+LTY V   +R+PLYT+ITVDIG+P+
Sbjct:   366 TMRFDGLNSLTYKVLDVQRYPLYTQITVDIGTPR 399