KEGG   Homo sapiens (human): 79709
Entry
79709             CDS       T01001                                 
Symbol
COLGALT1, BSVD3, ColGalT_1, GLT25D1
Name
(RefSeq) collagen beta(1-O)galactosyltransferase 1
  KO
K11703  collagen beta-1,O-galactosyltransferase [EC:2.4.1.50]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00310  Lysine degradation
hsa00514  Other types of O-glycan biosynthesis
hsa01100  Metabolic pathways
Disease
H00877  Brain small vessel disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00310 Lysine degradation
    79709 (COLGALT1)
  09107 Glycan biosynthesis and metabolism
   00514 Other types of O-glycan biosynthesis
    79709 (COLGALT1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    79709 (COLGALT1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.50  procollagen galactosyltransferase
     79709 (COLGALT1)
Glycosyltransferases [BR:hsa01003]
 O-Glycan biosynthesis
  O-linked Gal type
   79709 (COLGALT1)
SSDB
Motif
Pfam: Glyco_transf_25 Glyco_tranf_2_4 Anp1
Other DBs
NCBI-GeneID: 79709
NCBI-ProteinID: NP_078932
OMIM: 617531
HGNC: 26182
Ensembl: ENSG00000130309
UniProt: Q8NBJ5
LinkDB
Position
19:17555649..17583157
AA seq 622 aa
MAAAPRAGRRRGQPLLALLLLLLAPLPPGAPPGADAYFPEERWSPESPLQAPRVLIALLA
RNAAHALPTTLGALERLRHPRERTALWVATDHNMDNTSTVLREWLVAVKSLYHSVEWRPA
EEPRSYPDEEGPKHWSDSRYEHVMKLRQAALKSARDMWADYILFVDADNLILNPDTLSLL
IAENKTVVAPMLDSRAAYSNFWCGMTSQGYYKRTPAYIPIRKRDRRGCFAVPMVHSTFLI
DLRKAASRNLAFYPPHPDYTWSFDDIIVFAFSCKQAEVQMYVCNKEEYGFLPVPLRAHST
LQDEAESFMHVQLEVMVKHPPAEPSRFISAPTKTPDKMGFDEVFMINLRRRQDRRERMLR
ALQAQEIECRLVEAVDGKAMNTSQVEALGIQMLPGYRDPYHGRPLTKGELGCFLSHYNIW
KEVVDRGLQKSLVFEDDLRFEIFFKRRLMNLMRDVEREGLDWDLIYVGRKRMQVEHPEKA
VPRVRNLVEADYSYWTLAYVISLQGARKLLAAEPLSKMLPVDEFLPVMFDKHPVSEYKAH
FSLRNLHAFSVEPLLIYPTHYTGDDGYVSDTETSVVWNNEHVKTDWDRAKSQKMREQQAL
SREAKNSDVLQSPLDSAARDEL
NT seq 1869 nt   +upstreamnt  +downstreamnt
atggcggcggccccacgcgcgggccggcggcgcgggcagccgctcctggcgctgctgctt
ctgctgctggcgccactgccgccgggggccccgccgggcgccgacgcctacttccccgag
gagcgctggagcccggagtcgcccctgcaggcgccgcgcgtgctcatcgcgctgttggcg
cgaaacgcggcccacgcgttgcccaccacgctgggcgcactcgagcggctgcggcacccg
cgggagcgcacggcgctatgggtggctacggaccacaacatggataacacgtcaactgtg
ctgcgggagtggctggtggccgtgaagagtttgtaccattccgtggagtggcggccagca
gaggagcccaggtcctacccggacgaggaaggcccgaaacactggtctgactcacgctac
gagcatgtcatgaagttgcgccaggcagccctgaaatcagctcgagacatgtgggctgat
tacatcctgtttgtagatgcggacaacctgatcctcaaccctgacacactgagcctgctc
atcgctgagaacaagacggtggtcgcccccatgctggattcccgggctgcgtactccaac
ttctggtgtggaatgacttcccagggctactacaagcgcacacctgcctacatccctatc
cgcaagcgagaccgccggggctgctttgcagttcccatggtgcactcgaccttcctgatc
gacctgcggaaggcggcgtccaggaacctggccttctacccacctcaccctgactacacc
tggtcctttgacgacatcatcgtctttgccttctcctgcaagcaggcagaggttcagatg
tatgtgtgcaacaaggaggagtacggattcttgccagtgccattgcgcgcccacagcacc
ctccaggatgaggccgagagcttcatgcatgtgcagctggaggtcatggtgaagcacccg
cccgcagagccctcccgcttcatctcggctcccaccaagacaccggacaagatgggcttc
gacgaggtcttcatgatcaacctgaggcggcggcaggaccggcgggagcgcatgctgcgg
gcgctgcaggcacaggagatcgagtgccggctggtggaggccgtggacggcaaagccatg
aacaccagccaggtggaggcgctggggatccagatgctgcctggctaccgggacccctac
cacggccggcccctcaccaagggtgagctgggctgcttcctgagccactacaacatctgg
aaggaggtggtggaccgggggctgcagaaatcgcttgtgtttgaggatgacctgcgtttt
gagatcttcttcaagagacgtctgatgaacctcatgcgggatgtggagcgggagggcctg
gactgggacctcatctatgtgggccggaagcggatgcaggtggagcaccccgagaaggct
gtgcctcgcgtgaggaacctggtggaggccgactattcctactggaccctggcctacgtg
atctccctgcaaggcgcccgcaaactgctggctgctgagccgctctccaagatgctgcct
gtggacgagttcctgcccgtcatgttcgacaaacacccagtgtccgagtacaaggcccac
ttctccctccgcaacctgcatgccttctctgtggagccgctgctcatctaccccacacac
tacacaggagacgatggctatgtgagtgacaccgagacctcagtcgtatggaacaatgag
cacgtcaagaccgactgggaccgcgccaagtcccagaagatgcgggagcagcaggcactg
agccgtgaggccaagaactcggacgtgctccagtccccactggacagtgctgcccgggat
gaactctga

KEGG   Homo sapiens (human): 23127
Entry
23127             CDS       T01001                                 
Symbol
COLGALT2, C1orf17, ColGalT_2, GLT25D2
Name
(RefSeq) collagen beta(1-O)galactosyltransferase 2
  KO
K11703  collagen beta-1,O-galactosyltransferase [EC:2.4.1.50]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00310  Lysine degradation
hsa00514  Other types of O-glycan biosynthesis
hsa01100  Metabolic pathways
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00310 Lysine degradation
    23127 (COLGALT2)
  09107 Glycan biosynthesis and metabolism
   00514 Other types of O-glycan biosynthesis
    23127 (COLGALT2)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    23127 (COLGALT2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.50  procollagen galactosyltransferase
     23127 (COLGALT2)
Glycosyltransferases [BR:hsa01003]
 O-Glycan biosynthesis
  O-linked Gal type
   23127 (COLGALT2)
SSDB
Motif
Pfam: Glyco_transf_25 Glyco_tranf_2_4 Anp1 Aminotran_4
Other DBs
NCBI-GeneID: 23127
NCBI-ProteinID: NP_055916
OMIM: 617533
HGNC: 16790
Ensembl: ENSG00000198756
UniProt: Q8IYK4
LinkDB
Position
1:complement(183929662..184037728)
AA seq 626 aa
MAARPAATLAWSLLLLSSALLREGCRARFVAERDSEDDGEEPVVFPESPLQSPTVLVAVL
ARNAAHTLPHFLGCLERLDYPKSRMAIWAATDHNVDNTTEIFREWLKNVQRLYHYVEWRP
MDEPESYPDEIGPKHWPTSRFAHVMKLRQAALRTAREKWSDYILFIDVDNFLTNPQTLNL
LIAENKTIVAPMLESRGLYSNFWCGITPKGFYKRTPDYVQIREWKRTGCFPVPMVHSTFL
IDLRKEASDKLTFYPPHQDYTWTFDDIIVFAFSSRQAGIQMYLCNREHYGYLPIPLKPHQ
TLQEDIENLIHVQIEAMIDRPPMEPSQYVSVVPKYPDKMGFDEIFMINLKRRKDRRDRML
RTLYEQEIEVKIVEAVDGKALNTSQLKALNIEMLPGYRDPYSSRPLTRGEIGCFLSHYSV
WKEVIDRELEKTLVIEDDVRFEHQFKKKLMKLMDNIDQAQLDWELIYIGRKRMQVKEPEK
AVPNVANLVEADYSYWTLGYVISLEGAQKLVGANPFGKMLPVDEFLPVMYNKHPVAEYKE
YYESRDLKAFSAEPLLIYPTHYTGQPGYLSDTETSTIWDNETVATDWDRTHAWKSRKQSR
IYSNAKNTEALPPPTSLDTVPSRDEL
NT seq 1881 nt   +upstreamnt  +downstreamnt
atggctgcgcgccctgctgccaccctcgcctggtcgctactgctcctctcctcagccctg
ctccgcgaaggctgccgagcgcgcttcgtcgccgagcgggactcggaggacgacggagag
gagccggtggttttcccggagtcgcccctgcagagccccacggtgctcgtggcggtcctc
gcccgcaacgcggcgcacacgctgccgcacttcctcggctgcctggagcggctggactac
cccaagagcaggatggccatctgggcagccactgatcacaatgtggataatacaacagaa
atattcagggagtggttgaaaaatgtacagagactctatcactatgtggagtggaggcct
atggatgaaccagagtcttaccctgatgaaattggaccaaagcactggccaacctcccgg
tttgcccatgtgatgaaactacgacaggcagcccttcgaactgcgagggaaaaatggtca
gactacattctgttcatagatgttgacaatttcctgactaatccacagaccctcaatcta
ctgattgcagaaaacaaaactattgtggcccccatgctggagtctcggggcctgtattct
aatttctggtgcggaatcacccctaagggcttctataagaggaccccagactacgttcag
attcgagaatggaagaggacaggctgcttccccgtccccatggtccactccaccttccta
attgacctcaggaaggaggcctcggacaagctgactttctaccccccacaccaggactac
acctggacctttgatgacatcattgtctttgccttctccagcaggcaagcaggcatccag
atgtacctctgcaacagagagcactatggctacctgcccatccccctgaagccccatcag
acactgcaggaagacatcgagaacctcatccatgtgcagattgaagcaatgattgaccgt
cctccaatggaaccctcccagtatgtctcagttgtccctaaatatccagacaagatggga
tttgatgagattttcatgataaacctcaaacgcagaaaggacaggcgggaccggatgctg
cgcacactgtatgaacaggagattgaggtcaagattgtcgaggctgtggatggaaaggca
ctcaacacaagccagctgaaggcactgaatattgaaatgctgcctggctatcgagatccc
tattcctccaggcctctaacaaggggtgaaatcggctgctttctcagccactactcagtc
tggaaagaggtaattgatcgagagctagagaagactcttgtaattgaagacgatgtgcgt
tttgagcatcagtttaagaagaagctgatgaagctgatggataacattgaccaggctcag
ctggactgggaactgatttatattggtaggaagaggatgcaagtaaaggagccagagaaa
gcagtgcccaatgtggcaaacctggtcgaagccgactattcctactggaccctgggctac
gtcatctctctggaaggagcacagaagctggttggagccaatccttttgggaagatgctg
ccagtggatgagtttctgccagtcatgtacaacaagcatcccgtagccgagtacaaggag
tattatgaatccagggacctgaaagccttctctgcagaacccttgctcatctaccctacg
cactacacaggccagccggggtacctgagtgacacggagacctccaccatctgggacaat
gagacagtggccaccgactgggataggacacatgcctggaagtcccggaagcaaagccgc
atctacagcaatgccaagaacacagaggccctgccaccgccaacctccctggacactgtg
ccttcaagggatgagctatga

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