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

Gene name
GALNT3, GalNAc-T3, HFTC, HHS
Definition
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (EC:2.4.1.41)
Orthology
K00710  
polypeptide N-acetylgalactosaminyltransferase [EC:2.4.1.41]
Organism
hsa  Homo sapiens (human)
Pathway
Mucin type O-Glycan biosynthesis
Metabolic pathways
Module
O-glycan biosynthesis, mucin type core
Disease
H01193  
Familial tumoral calcinosis (FTC)
Class
Metabolism; Glycan biosynthesis and metabolism; Mucin type O-glycan biosynthesis [PATH:hsa00512]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
LinkDB All DBs
Position
2q24-q31
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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