KEGG T01001: 9215

Homo sapiens (human): 9215

Entry

9215 CDS T01001

Gene name

LARGE, MDC1D, MDDGA6, MDDGB6

Definition

like-glycosyltransferase

Orthology

K09668

glycosyltransferase-like protein LARGE

Organism

hsa Homo sapiens (human)

Disease

H00120	Dystroglycanopathy
H00590	Congenital muscular dystrophies (CMD/MDC)

Class

SSDB

Motif

Pfam:

Glyco_transf_49 Glyco_transf_8 Glyco_tranf_2_2

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

22q12.3

AA seq 756 aa
MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQR
ERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVA
GNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQ
ILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIV
LDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVI
LLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQL
SDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCP
SEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQL
SMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQF
YPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETL
RYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPY
VVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSN
KQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS

NT seq 2271 nt +upstreamnt +downstreamnt
atgctgggaatctgcagggggagacggaaattcttggctgcctcgttgagtcttctctgc
atcccagccatcacctggatttacctgttttctgggagcttcgaagatggaaagcccgtg
tctctgtcaccgctggagtcccaggcacacagccccaggtacacggcctccagccagcgg
gagcgcgagagcctggaggtgcgcatgcgcgaggtggaggaggagaaccgcgccctccgc
aggcagctcagcctggcccagggccgagccccatcccatcgccgaggcaaccactccaag
acctactccatggaggagggcactggagacagcgagaaccttcgggctggcatcgtggca
ggcaacagctccgagtgtgggcagcagccggtcgtggagaaatgcgagacaatccacgtt
gctattgtctgcgccggatacaatgccagccgggatgtcgtcaccctggtcaaatccgtc
ctgttccatagacggaaccctctgcacttccaccttattgctgactccattgcggagcag
atcctggccacgctcttccagacctggatggtgcccgctgtgcgtgtggacttctacaat
gcagacgagctcaagtctgaagtttcctggatccccaataaacattactctgggatttat
ggtctgatgaagcttgtcctgaccaagactcttcctgccaacctggagagagtcatcgtc
cttgacacggatatcacctttgccactgacattgcagagctgtgggctgtgttccacaag
ttcaaaggtcagcaagtcctgggcttggtggagaaccagagtgactggtaccttggaaac
ctgtggaaaaatcaccgcccatggccagcccttggaagaggctacaacacaggggtgatc
ctgttacttctggataagctgcggaagatgaaatgggagcagatgtggaggctgaccgca
gagagggagctcatgggcatgctctctacatccttagctgaccaggatattttcaatgcc
gtcatcaaacaaaaccccttccttgtgtaccagctcccctgcttctggaatgtgcagctg
tcagaccacacccgctccgagcagtgctacagagacgtgtctgatctaaaggtcattcac
tggaactcccccaagaagctccgggtgaagaacaagcatgtggagttttttcgcaacctc
tacctgaccttcctggagtatgacggcaatcttctgaggcgggaactgtttggctgcccc
agtgaggctgatgtcaacagtgaaaacctccagaagcagctgtctgagctggacgaggac
gacctgtgctatgagttccggcgagagcgcttcactgtccaccgcacccacctgtacttc
ctgcactacgagtatgagcctgcagcagacagcacggacgtcaccctggtcgctcagctg
tccatggacaggctccagatgctggaggccatctgcaagcactgggaggggcccatcagc
ctggccctctacctgtcagacgccgaggcccagcagttcctccgctacgcacagggctct
gaggtgcttatgagccgccacaacgtgggctaccacatcgtgtacaaggagggccagttc
taccccgtgaacctgctgcgcaacgtggccatgaagcacatcagcactccctacatgttc
ctgtctgacattgacttcctgcccatgtatgggctctatgagtacctcaggaagtctgtc
atccagctcgatcttgccaacaccaagaaagcaatgattgtccccgcgttcgagacactg
cgctaccggctgtccttccccaagtcaaaagcggagttgctgtcaatgctggacatgggg
accctcttcacattcaggtaccacgtctggacgaaaggccacgcacccacaaacttcgcc
aagtggcggaccgccaccacgccttaccgggttgagtgggaggccgattttgagccgtat
gttgttgtgagacgtgactgcccggagtacgaccggaggtttgtaggctttggctggaac
aaagtggctcatatcatggagctggatgtgcaggagtatgagttcattgtgctgcccaac
gcctacatgatccacatgcctcatgcccccagcttcgacattaccaagttccgttccaac
aagcaataccgcatctgtctcaaaaccctcaaggaagagtttcagcaggacatgtcccgc
cgctacggctttgctgccctgaaatatctcacagccgagaacaacagctag

All links

Ontology (1)   
   KEGG BRITE (1)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (20)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (12)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   RefSeq(pep) (2)   
DNA sequence (36)   
   RefSeq(nuc) (2)   
   GenBank (17)   
   EMBL (17)   
Protein domain (3)   
   Pfam (3)   
All databases (70)   

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