KEGG   Homo sapiens (human): 84899
Entry
84899             CDS       T01001                                 
Symbol
TMTC4, DFNB122
Name
(RefSeq) transmembrane O-mannosyltransferase targeting cadherins 4
  KO
K23424  protein O-mannosyl-transferase [EC:2.4.1.-]
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    84899 (TMTC4)
Glycosyltransferases [BR:hsa01003]
 O-Glycan biosynthesis
  O-linked Man type
   84899 (TMTC4)
SSDB
Motif
Pfam: TPR_1 TMTC_DUF1736 TPR_2 TPR_8 TPR_17 TPR_16 TPR_11 TPR_12 TPR_14 TPR_19 TPR_10 TPR_9 TPR_15 TPR_MalT NatA_aux_su FAT BTAD DUF3382
Other DBs
NCBI-GeneID: 84899
NCBI-ProteinID: NP_001073137
OMIM: 618203
HGNC: 25904
Ensembl: ENSG00000125247
UniProt: Q5T4D3
Position
13:complement(100603625..100675075)
AA seq 741 aa
MAVLDTDLDHILPSSVLPPFWAKLVVGSVAIVCFARSYDGDFVFDDSEAIVNNKDLQAET
PLGDLWHHDFWGSRLSSNTSHKSYRPLTVLTFRINYYLSGGFHPVGFHVVNILLHSGISV
LMVDVFSVLFGGLQYTSKGRRLHLAPRASLLAALLFAVHPVHTECVAGVVGRADLLCALF
FLLSFLGYCKAFRESNKEGAHSSTFWVLLSIFLGAVAMLCKEQGITVLGLNAVFDILVIG
KFNVLEIVQKVLHKDKSLENLGMLRNGGLLFRMTLLTSGGAGMLYVRWRIMGTGPPAFTE
VDNPASFADSMLVRAVNYNYYYSLNAWLLLCPWWLCFDWSMGCIPLIKSISDWRVIALAA
LWFCLIGLICQALCSEDGHKRRILTLGLGFLVIPFLPASNLFFRVGFVVAERVLYLPSVG
YCVLLTFGFGALSKHTKKKKLIAAVVLGILFINTLRCVLRSGEWRSEEQLFRSALSVCPL
NAKVHYNIGKNLADKGNQTAAIRYYREAVRLNPKYVHAMNNLGNILKERNELQEAEELLS
LAVQIQPDFAAAWMNLGIVQNSLKRFEAAEQSYRTAIKHRRKYPDCYYNLGRLYADLNRH
VDALNAWRNATVLKPEHSLAWNNMIILLDNTGNLAQAEAVGREALELIPNDHSLMFSLAN
VLGKSQKYKESEALFLKAIKANPNAASYHGNLAVLYHRWGHLDLAKKHYEISLQLDPTAS
GTKENYGLLRRKLELMQKKAV
NT seq 2226 nt   +upstreamnt  +downstreamnt
atggccgtgttggacactgatttggatcacattcttccatcttctgttcttcctccattc
tgggctaagttagtagtgggatcggttgccattgtgtgttttgcacgcagctatgatgga
gactttgtctttgatgactcagaagctattgttaacaataaggacctccaagcagaaacg
cccctgggggacctgtggcatcatgacttctggggcagtagactgagcagcaacaccagc
cacaagtcctaccggcctctcaccgtcctgactttcaggattaactactacctctcggga
ggcttccaccccgtgggctttcacgtggtcaacatcctcctgcacagtggcatctctgtc
ctcatggtggacgtcttctcggttctgtttggcggcctgcagtacaccagtaaaggccgg
aggctgcacctcgcccccagggcgtccctgctggccgcgctgctgtttgctgtccatcct
gtgcacaccgagtgtgttgctggtgttgtcggccgtgcagacctcctgtgtgccctgttc
ttcttgttatctttccttggctactgtaaagcatttagagaaagtaacaaggagggagcg
cattcttccaccttctgggtgctgctgagtatctttctgggagcagtggccatgctgtgc
aaagagcaagggatcactgtgctgggtttaaatgcggtatttgacatcttggtgataggc
aaattcaatgttctggaaattgtccagaaggtactacataaggacaagtcattagagaat
ctcggcatgctcaggaacgggggcctcctcttcagaatgaccctgctcacctctggaggg
gctgggatgctctacgtgcgctggaggatcatgggcacgggcccgccggccttcaccgag
gtggacaacccggcctcctttgctgacagcatgctggtgagggccgtaaactacaattac
tactattcattgaatgcctggctgctgctgtgtccctggtggctgtgttttgattggtca
atgggctgcatccccctcattaagtccatcagcgactggagggtaattgcacttgcagca
ctctggttctgcctaattggcctgatatgccaagccctgtgctctgaagacggccacaag
agaaggatccttactctgggcctgggatttctcgttatcccatttctccccgcgagtaac
ctgttcttccgagtgggcttcgtggtcgcagagcgtgtcctctacctccccagcgttggg
tactgtgtgctgctgacttttggattcggagccctgagcaaacataccaagaaaaagaaa
ctcattgccgctgtcgtgctgggaatcttattcatcaacacgctgagatgtgtgctgcgc
agcggcgagtggcggagtgaggaacagcttttcagaagtgctctgtctgtgtgtcccctc
aatgctaaggttcactacaacattggcaaaaacctggctgataaaggcaaccagacagct
gccatcagatactaccgggaagctgtaagattaaatcccaagtatgttcatgccatgaat
aatcttggaaatatcttaaaagaaaggaatgagctacaggaagctgaggagctgctgtct
ttggctgttcaaatacagccagactttgccgctgcgtggatgaatctaggcatagtgcag
aatagcctgaaacggtttgaagcagcagagcaaagttaccggacagcaattaaacacaga
aggaaatacccagactgttactacaacctcgggcgtctgtatgcagatctcaatcgccac
gtggatgccttgaatgcgtggagaaatgccaccgtgctgaaaccagagcacagcctggcc
tggaacaacatgattatactcctcgacaatacaggtaatttagcccaagctgaagcagtt
ggaagagaggcactggaattaatacctaatgatcactctctcatgttctcgttggcaaac
gtgctggggaaatcccagaaatacaaggaatctgaagctttattcctcaaggcaattaaa
gcaaatccaaatgctgcaagttaccatggtaatttggctgtgctttatcatcgttgggga
catctagacttggccaagaaacactatgaaatctccttgcagcttgaccccacggcatca
ggaactaaggagaattacggtctgctgagaagaaagctagaactaatgcaaaagaaagct
gtctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (16)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (14)   
DNA sequence (45)   
   RefSeq(nuc) (15)   
   GenBank (15)   
   EMBL (15)   
Protein domain (18)   
   Pfam (18)   
All databases (98)   

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