KEGG   Homo sapiens (human): 2591Help
Entry
2591              CDS       T01001                                 

Gene name
GALNT3, GalNAc-T3, HFTC, HFTC1, HHS
Definition
(RefSeq) polypeptide N-acetylgalactosaminyltransferase 3
  KO
K00710  polypeptide N-acetylgalactosaminyltransferase [EC:2.4.1.41]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00512  Mucin type O-glycan biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00056  O-glycan biosynthesis, mucin type core
Disease
H01193  Familial tumoral calcinosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00512 Mucin type O-glycan biosynthesis
    2591 (GALNT3)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    2591 (GALNT3)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.41  polypeptide N-acetylgalactosaminyltransferase
     2591 (GALNT3)
Glycosyltransferases [BR:hsa01003]
 O-Glycan biosynthesis
  Mucin-type
   2591 (GALNT3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Glycos_transf_2 Ricin_B_lectin Glyco_transf_7C Glyco_tranf_2_3
Motif
Other DBs
NCBI-GeneID: 2591
NCBI-ProteinID: NP_004473
OMIM: 601756
HGNC: 4125
Ensembl: ENSG00000115339
Vega: OTTHUMG00000132157
Pharos: Q14435(Tbio)
UniProt: Q14435
Position
2q24.3
AA seq 633 aa AA seqDB search
MAHLKRLVKLHIKRHYHKKFWKLGAVIFFFIIVLVLMQREVSVQYSKEESRMERNMKNKN
KMLDLMLEAVNNIKDAMPKMQIGAPVRQNIDAGERPCLQGYYTAAELKPVLDRPPQDSNA
PGASGKAFKTTNLSVEEQKEKERGEAKHCFNAFASDRISLHRDLGPDTRPPECIEQKFKR
CPPLPTTSVIIVFHNEAWSTLLRTVHSVLYSSPAILLKEIILVDDASVDEYLHDKLDEYV
KQFSIVKIVRQRERKGLITARLLGATVATAETLTFLDAHCECFYGWLEPLLARIAENYTA
VVSPDIASIDLNTFEFNKPSPYGSNHNRGNFDWSLSFGWESLPDHEKQRRKDETYPIKTP
TFAGGLFSISKEYFEYIGSYDEEMEIWGGENIEMSFRVWQCGGQLEIMPCSVVGHVFRSK
SPHSFPKGTQVIARNQVRLAEVWMDEYKEIFYRRNTDAAKIVKQKAFGDLSKRFEIKHRL
QCKNFTWYLNNIYPEVYVPDLNPVISGYIKSVGQPLCLDVGENNQGGKPLIMYTCHGLGG
NQYFEYSAQHEIRHNIQKELCLHAAQGLVQLKACTYKGHKTVVTGEQIWEIQKDQLLYNP
FLKMCLSANGEHPSLVSCNPSDPLQKWILSQND
NT seq 1902 nt NT seq  +upstreamnt  +downstreamnt
atggctcacctaaagcgactagtaaaattacacattaaaagacattaccataaaaagttc
tggaagcttggtgcagtaatttttttctttataatagttttggttttaatgcaaagagaa
gtaagtgttcaatattccaaagaggaatcaaggatggaaaggaacatgaaaaacaaaaac
aagatgttggatttaatgctagaagctgtaaacaatattaaggatgccatgccaaaaatg
caaataggagcacctgtcaggcaaaacattgatgctggtgagagaccttgtttgcaagga
tattatacagcagcagaattgaagcctgtccttgaccgtccacctcaggattcaaatgca
cctggtgcttctggtaaagcattcaagacaaccaatttaagtgttgaagagcaaaaggaa
aaggaacgtggggaagctaaacactgctttaatgctttcgcaagtgacaggatttctttg
caccgagatcttggaccagacactcgacctcctgaatgtattgaacaaaaatttaagcgc
tgccctcccctgcccaccaccagtgtcataatagtttttcataatgaagcgtggtccacg
ttgcttagaactgtccacagtgtgctctattcttcacctgcaatactgctgaaggaaatc
attttggtggatgatgctagtgtagatgagtacttacatgataaactagatgaatatgta
aaacaattttctatagtaaaaatagtcagacaaagagaaagaaaaggtctgatcactgct
cggttgctaggagcaacagtcgcaacagctgaaacgctcacatttttagatgctcactgt
gagtgtttctatggttggctagaacctctgttggccagaatagctgagaactacacggct
gtcgtaagtccagatattgcatccatagatctgaacacgtttgaattcaacaaaccttct
ccttatggaagtaaccataaccgtggaaattttgactggagtctttcatttggctgggag
tcgcttcctgatcatgagaagcaaagaaggaaagatgaaacctacccaattaaaacaccc
acttttgcaggaggacttttttccatatcaaaagaatattttgagtatattggaagctat
gatgaagaaatggaaatctggggaggtgaaaatatagaaatgtctttcagagtatggcaa
tgtggtgggcagttggagattatgccttgctctgttgttggacatgtttttcgcagcaaa
agccctcatagctttccaaaaggcactcaggtgattgctagaaaccaagttcgccttgca
gaagtctggatggatgaatacaaggaaatattttataggagaaatacagatgcagcaaaa
attgttaaacaaaaagcatttggtgatctttcaaaaagatttgaaataaaacaccgcctt
cagtgtaaaaattttacatggtatctgaacaacatttatccagaggtgtatgtgccagac
cttaatcctgttatatctggatacattaaaagcgttggtcagcctctatgtctggatgtt
ggagaaaacaatcaaggaggcaaaccattaattatgtatacatgtcatggacttggggga
aaccagtactttgaatactctgctcaacatgaaattcggcacaacatccagaaggaatta
tgtcttcatgctgctcaaggtctcgttcagctgaaggcatgtacctacaaaggtcacaag
acagttgtcactggagagcagatatgggagatccagaaggatcaacttctatacaatcca
ttcttaaaaatgtgcctttcagcaaatggagagcatccaagtttagtgtcatgcaaccca
tcagatccactccaaaaatggatacttagccaaaatgattaa

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