KEGG   Homo sapiens (human): 29071
Entry
29071             CDS       T01001                                 
Symbol
C1GALT1C1, AHUS8, C1GALT2, C38H2-L1, COSMC, HSPC067, MST143, TNPS
Name
(RefSeq) C1GALT1 specific chaperone 1
  KO
K09653  C1GALT1-specific chaperone 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa00512  Mucin type O-glycan biosynthesis
hsa00514  Other types of O-glycan biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00056  O-glycan biosynthesis, mucin type core
Disease
H01188  Tn syndrome
H01434  Atypical hemolytic uremic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00512 Mucin type O-glycan biosynthesis
    29071 (C1GALT1C1)
   00514 Other types of O-glycan biosynthesis
    29071 (C1GALT1C1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    29071 (C1GALT1C1)
Glycosyltransferases [BR:hsa01003]
 Glycan extension
  Type 3 chain
   29071 (C1GALT1C1)
SSDB
Other DBs
NCBI-GeneID: 29071
NCBI-ProteinID: NP_001011551
OMIM: 300611
HGNC: 24338
Ensembl: ENSG00000171155
UniProt: Q96EU7
LinkDB
Position
X:complement(120625674..120630054)
AA seq 318 aa
MLSESSSFLKGVMLGSIFCALITMLGHIRIGHGNRMHHHEHHHLQAPNKEDILKISEDER
MELSKSFRVYCIILVKPKDVSLWAAVKETWTKHCDKAEFFSSENVKVFESINMDTNDMWL
MMRKAYKYAFDKYRDQYNWFFLARPTTFAIIENLKYFLLKKDPSQPFYLGHTIKSGDLEY
VGMEGGIVLSVESMKRLNSLLNIPEKCPEQGGMIWKISEDKQLAVCLKYAGVFAENAEDA
DGKDVFNTKSVGLSIKEAMTYHPNQVVEGCCSDMAVTFNGLTPNQMHVMMYGVYRLRAFG
HIFNDALVFLPPNGSDND
NT seq 957 nt   +upstreamnt  +downstreamnt
atgctttctgaaagcagctcctttttgaagggtgtgatgcttggaagcattttctgtgct
ttgatcactatgctaggacacattaggattggtcatggaaatagaatgcaccaccatgag
catcatcacctacaagctcctaacaaagaagatatcttgaaaatttcagaggatgagcgc
atggagctcagtaagagctttcgagtatactgtattatccttgtaaaacccaaagatgtg
agtctttgggctgcagtaaaggagacttggaccaaacactgtgacaaagcagagttcttc
agttctgaaaatgttaaagtgtttgagtcaattaatatggacacaaatgacatgtggtta
atgatgagaaaagcttacaaatacgcctttgataagtatagagaccaatacaactggttc
ttccttgcacgccccactacgtttgctatcattgaaaacctaaagtattttttgttaaaa
aaggatccatcacagcctttctatctaggccacactataaaatctggagaccttgaatat
gtgggtatggaaggaggaattgtcttaagtgtagaatcaatgaaaagacttaacagcctt
ctcaatatcccagaaaagtgtcctgaacagggagggatgatttggaagatatctgaagat
aaacagctagcagtttgcctgaaatatgctggagtatttgcagaaaatgcagaagatgct
gatggaaaagatgtatttaataccaaatctgttgggctttctattaaagaggcaatgact
tatcaccccaaccaggtagtagaaggctgttgttcagatatggctgttacttttaatgga
ctgactccaaatcagatgcatgtgatgatgtatggggtataccgccttagggcatttggg
catattttcaatgatgcattggttttcttacctccaaatggttctgacaatgactga

KEGG   Homo sapiens (human): 56913
Entry
56913             CDS       T01001                                 
Symbol
C1GALT1, C1GALT, T-synthase
Name
(RefSeq) core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
  KO
K00731  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase [EC:2.4.1.122]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00512  Mucin type O-glycan biosynthesis
hsa00514  Other types of O-glycan biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00056  O-glycan biosynthesis, mucin type core
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00512 Mucin type O-glycan biosynthesis
    56913 (C1GALT1)
   00514 Other types of O-glycan biosynthesis
    56913 (C1GALT1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    56913 (C1GALT1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.122  N-acetylgalactosaminide beta-1,3-galactosyltransferase
     56913 (C1GALT1)
Glycosyltransferases [BR:hsa01003]
 Glycan extension
  Type 3 chain
   56913 (C1GALT1)
SSDB
Motif
Pfam: Fringe Galactosyl_T
Other DBs
NCBI-GeneID: 56913
NCBI-ProteinID: NP_064541
OMIM: 610555
HGNC: 24337
Ensembl: ENSG00000106392
UniProt: Q9NS00 A0A024RA32
LinkDB
Position
7:7157377..7248616
AA seq 363 aa
MASKSWLNFLTFLCGSAIGFLLCSQLFSILLGEKVDTQPNVLHNDPHARHSDDNGQNHLE
GQMNFNADSSQHKDENTDIAENLYQKVRILCWVMTGPQNLEKKAKHVKATWAQRCNKVLF
MSSEENKDFPAVGLKTKEGRDQLYWKTIKAFQYVHEHYLEDADWFLKADDDTYVILDNLR
WLLSKYDPEEPIYFGRRFKPYVKQGYMSGGAGYVLSKEALKRFVDAFKTDKCTHSSSIED
LALGRCMEIMNVEAGDSRDTIGKETFHPFVPEHHLIKGYLPRTFWYWNYNYYPPVEGPGC
CSDLAVSFHYVDSTTMYELEYLVYHLRPYGYLYRYQPTLPERILKEISQANKNEDTKVKL
GNP
NT seq 1092 nt   +upstreamnt  +downstreamnt
atggcctctaaatcctggctgaattttttaaccttcctctgtggatcagcaataggattt
cttttatgttctcagctatttagtattttgttgggagaaaaggttgacacccagcctaat
gttcttcataatgatcctcatgcaaggcattcagatgataatggacagaatcatctagaa
ggacaaatgaacttcaatgcagattctagccaacataaagatgagaacacagacattgct
gaaaacctctatcagaaagttagaattctttgctgggttatgaccggccctcaaaaccta
gagaaaaaggccaaacacgtcaaagctacttgggcccagcgttgtaacaaagtgttgttt
atgagttcagaagaaaataaagacttccctgctgtgggactgaaaaccaaagaaggcaga
gatcaactatactggaaaacaattaaagcttttcagtatgttcatgaacattatttagaa
gatgctgattggtttttgaaagcagatgatgacacgtatgtcatactagacaatttgagg
tggcttctttcaaaatacgaccctgaagaacccatttactttgggagaagatttaagcct
tatgtaaagcagggctacatgagtggaggagcaggatatgtactaagcaaagaagccttg
aaaagatttgttgatgcatttaaaacagacaagtgtacacatagttcctccattgaagac
ttagcactggggagatgcatggaaattatgaatgtagaagcaggagattccagagatacc
attggaaaagaaacttttcatccctttgtgccagaacaccatttaattaaaggttatcta
cctagaacgttttggtactggaattacaactattatcctcctgtagagggtcctggttgc
tgctctgatcttgcagtttcttttcactatgttgattctacaaccatgtatgagttagaa
tacctcgtttatcatcttcgtccatatggttatttatacagatatcaacctaccttacct
gaacgtatactaaaggaaattagtcaagcaaacaaaaatgaagatacaaaagtgaagtta
ggaaatccttga

KEGG   Homo sapiens (human): 728819
Entry
728819            CDS       T01001                                 
Symbol
C1GALT1C1L
Name
(RefSeq) C1GALT1 specific chaperone 1 like
  KO
K09653  C1GALT1-specific chaperone 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa00512  Mucin type O-glycan biosynthesis
hsa00514  Other types of O-glycan biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00056  O-glycan biosynthesis, mucin type core
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00512 Mucin type O-glycan biosynthesis
    728819 (C1GALT1C1L)
   00514 Other types of O-glycan biosynthesis
    728819 (C1GALT1C1L)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    728819 (C1GALT1C1L)
Glycosyltransferases [BR:hsa01003]
 Glycan extension
  Type 3 chain
   728819 (C1GALT1C1L)
SSDB
Motif
Pfam: Fringe DUF7557
Other DBs
NCBI-GeneID: 728819
NCBI-ProteinID: NP_001094800
HGNC: 51617
Ensembl: ENSG00000223658
UniProt: P0DN25
LinkDB
Position
2:complement(43675151..43676429)
AA seq 315 aa
MVSASGTSFFKGMLLGSISWVLITMFGQIHIRHRGQTQDHEHHHLRPPNRNDFLNTSKVI
LLELSKSIRVFCIIFGESEDESYWAVLKETWTKHCDKAELYDTKNDNLFNIESNDRWVQM
RTAYKYVFEKYGDNYNWFFLALPTTFAVIENLKYLLFTRDASQPFYLGHTVIFGDLEYVT
VEGGIVLSRELMKRLNRLLDNSETCADQSVIWKLSEDKQLAICLKYAGVHAENAEDYEGR
DVFNTKPIAQLIEEALSNNPQQVVEGCCSDMAITFNGLTPQKMEVMMYGLYRLRAFGHYF
NDTLVFLPPVGSEND
NT seq 948 nt   +upstreamnt  +downstreamnt
atggtttccgctagtgggacatcattttttaagggtatgttgcttgggagcatttcctgg
gttttgataactatgtttggccaaattcacattcgacacagaggtcaaactcaagaccac
gagcaccatcaccttcgtccacctaacaggaacgatttcttaaacacttcaaaagtgata
ctcttggagctcagtaaaagtattcgtgttttctgtatcatctttggagaatccgaagat
gagagttactgggctgtactgaaagagacctggaccaaacactgtgacaaagcagagctc
tacgatactaaaaatgataatttgttcaatatagaaagtaatgacaggtgggtacagatg
aggaccgcttacaaatacgtctttgaaaagtatggtgacaactacaactggttcttcctt
gcacttcccactacgtttgctgtcattgaaaatttaaagtaccttttgtttacaagggat
gcatcccagcccttctatctgggccacactgttatatttggagacctcgaatacgtgact
gtggaaggagggattgtcttaagcagagagttgatgaaaagacttaacagacttctcgat
aactctgagacctgtgcagatcaaagtgtgatttggaagttatctgaagataagcagctg
gcaatatgcctgaaatatgcaggagttcatgcagaaaatgcagaggattatgaaggaaga
gatgtatttaatacaaaaccaatcgcacagcttattgaagaggcattgtctaataaccct
cagcaagtagtagaaggctgctgttcagatatggctattactttcaatggactgaccccc
caaaagatggaagtaatgatgtatggcctgtaccggctcagggcatttggacactatttc
aatgacacactcgttttcttgcctccagttggttcagaaaatgactga

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