| Entry |
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| Gene name |
GALNT3, GalNAc-T3, HFTC, HHS
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| Definition |
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (EC:2.4.1.41)
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| Orthology |
| polypeptide N-acetylgalactosaminyltransferase [EC: 2.4.1.41] |
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| Organism |
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| Pathway |
| Mucin type O-Glycan biosynthesis | | Metabolic pathways |
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| Module |
| O-glycan biosynthesis, mucin type core |
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| Disease |
| Familial tumoral calcinosis (FTC) |
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| Class |
Metabolism; Glycan biosynthesis and metabolism; Mucin type O-glycan biosynthesis [PATH: hsa00512]
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| SSDB |
   |
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| Motif |
 |
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| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
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| Position |
2q24-q31
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| AA seq |
633 aa  
MAHLKRLVKLHIKRHYHKKFWKLGAVIFFFIIVLVLMQREVSVQYSKEESRMERNMKNKN
KMLDLMLEAVNNIKDAMPKMQIGAPVRQNIDAGERPCLQGYYTAAELKPVLDRPPQDSNA
PGASGKAFKTTNLSVEEQKEKERGEAKHCFNAFASDRISLHRDLGPDTRPPECIEQKFKR
CPPLPTTSVIIVFHNEAWSTLLRTVHSVLYSSPAILLKEIILVDDASVDEYLHDKLDEYV
KQFSIVKIVRQRERKGLITARLLGATVATAETLTFLDAHCECFYGWLEPLLARIAENYTA
VVSPDIASIDLNTFEFNKPSPYGSNHNRGNFDWSLSFGWESLPDHEKQRRKDETYPIKTP
TFAGGLFSISKEYFEYIGSYDEEMEIWGGENIEMSFRVWQCGGQLEIMPCSVVGHVFRSK
SPHSFPKGTQVIARNQVRLAEVWMDEYKEIFYRRNTDAAKIVKQKAFGDLSKRFEIKHRL
QCKNFTWYLNNIYPEVYVPDLNPVISGYIKSVGQPLCLDVGENNQGGKPLIMYTCHGLGG
NQYFEYSAQHEIRHNIQKELCLHAAQGLVQLKACTYKGHKTVVTGEQIWEIQKDQLLYNP
FLKMCLSANGEHPSLVSCNPSDPLQKWILSQND |
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| NT seq |
1902 nt  +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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