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
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
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

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