KEGG   Homo sapiens (human): 54916
Entry
54916             CDS       T01001                                 
Symbol
TMEM260, C14orf101, SHDRA
Name
(RefSeq) transmembrane protein 260
  KO
K27244  dolichyl-phosphate-mannose-protein mannosyltransferase [EC:2.4.1.109]
Organism
hsa  Homo sapiens (human)
Disease
H02690  Structural heart defects and renal anomalies syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    54916 (TMEM260)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.109  dolichyl-phosphate-mannose---protein mannosyltransferase
     54916 (TMEM260)
Glycosyltransferases [BR:hsa01003]
 O-Glycan biosynthesis
  O-linked Man type
   54916 (TMEM260)
SSDB
Motif
Pfam: DUF2723
Other DBs
NCBI-GeneID: 54916
NCBI-ProteinID: NP_060269
OMIM: 617449
HGNC: 20185
Ensembl: ENSG00000070269
UniProt: Q9NX78 B3KN73
Position
14:56579525..56663165
AA seq 707 aa
MSPHGDGRGQAQGRAVRVGLRRSGGIRGGVAVFAAVAAVFTFTLPPSVPGGDSGELITAA
HELGVAHPPGYPLFTLVAKLAITLFPFGSIAYRVNLLCGLFGAVAASLLFFTVFRLSGSS
AGGILAAGVFSFSRLTWQWSIAAEVFSLNNLFVGLLMALTVHFEEAATAKERSKVAKIGA
FCCGLSLCNQHTIILYVLCIIPWILFQLLKKKELSLGSLLKLSLYFSAGLLPYVHLPISS
YLNHARWTWGDQTTLQGFLTHFLREEYGTFSLAKSEIGSSMSEILLSQVTNMRTELSFNI
QALAVCANICLATKDRQNPSLVWLFTGMFCIYSLFFAWRANLDISKPLFMGVVERFWMQS
NAVVAVLAGIGLAAVVSETNRVLNSNGLQCLEWLSATLFVVYQIYSNYSVCDQRTNYVID
KFAKNLLTSMPHDAIILLRGDLPGNSLRYMHYCEGLRPDISLVDQEMMTYEWYLPKMAKH
LPGVNFPGNRWNPVEGILPSGMVTFNLYHFLEVNKQKETFVCIGIHEGDPTWKKNYSLWP
WGSCDKLVPLEIVFNPEEWIKLTKSIYNWTEEYGRFDPSSWESVANEEMWQARMKTPFFI
FNLAETAHMPSKVKAQLYAQAYDLYKEIVYLQKEHPVNWHKNYAIACERMLRLQARDADP
EVLLSETIRHFRLYSQKAPNDPQQADILGALKHLRKELQSLRNRKNV
NT seq 2124 nt   +upstreamnt  +downstreamnt
atgagtccccatggcgacggcaggggccaggcccaggggcgggcagtccgagtggggctg
cggcgctccgggggcatccgcggcggcgtggcggtgttcgccgccgtggccgcagtgttc
accttcaccctgcccccttcggtaccggggggagactccggggaactgatcacagccgca
catgagcttggagttgcccatcctcctggctatcctttgttcacgctggtggctaaactg
gcaattacactgtttccttttggttcaattgcctaccgcgtcaatcttctctgtggctta
tttggagcagtagctgcatcattactttttttcaccgttttcaggctttctggctcatct
gctggaggaatccttgctgcgggggtgttttcattttctcgtctaacatggcagtggtcc
attgcagcagaggtttttagcttaaacaatctctttgtggggctgcttatggctcttact
gtacattttgaggaagcagcaactgctaaggagagatcaaaggtagctaaaattggtgct
ttctgctgtggccttagtttatgtaaccagcacacaataatactctatgttttgtgcata
ataccttggattctctttcaacttttaaaaaagaaggaactctccctgggctctttgttg
aagttgagcctgtacttctctgctggtttgctgccctatgtccaccttcccatctcatct
taccttaatcacgcccggtggacctggggagaccagacaacactgcaaggatttttgaca
cattttctcagggaagaatatggaaccttcagcctggccaaatctgaaataggatccagt
atgtctgaaatactgctttctcaagtaacaaatatgaggaccgaactctcattcaacatc
caagcccttgcagtttgtgcaaatatatgtttagcaacaaaggacagacagaatccatca
ttagtatggctttttactggaatgttttgcatttattcattgttctttgcttggagagca
aatttagatatttcaaaaccacttttcatgggtgtggtggaacgattctggatgcagagc
aatgcagtagtggccgtcctcgctggcattggtttggctgcagttgtgtctgagactaac
cgagtgctgaatagcaatgggcttcagtgtctggaatggctttctgcaactctttttgta
gtttaccaaatatattctaattacagtgtttgtgaccaaaggaccaactatgtgattgat
aagttcgcaaagaaccttctcacctctatgcctcatgatgcaattatcttactcagagga
gatttgccaggaaattctctccgttacatgcattactgtgaggggttgaggcctgacatt
tcattagtggatcaggaaatgatgacttacgagtggtatttacccaagatggcaaagcac
ttgccaggtgtcaactttcctgggaaccggtggaatcctgtggaaggaatattacctagt
ggaatggtcacatttaatctttatcattttcttgaagtaaataaacaaaaagaaacattt
gtttgcataggaattcatgaaggcgacccaacctggaaaaagaactattcactttggcca
tgggggtcttgtgacaaattagttcctttggagattgtattcaaccctgaggaatggatt
aaacttacaaaaagtatctataactggaccgaagaatatggaaggtttgatccatcttct
tgggaatctgtggccaatgaagaaatgtggcaagcgaggatgaaaacaccgttcttcatc
tttaacctggcagaaactgctcacatgccttcaaaagtgaaagctcaactctacgctcaa
gcatatgacctttataaggagattgtctatttacaaaaggagcacccagtgaattggcac
aagaactatgccatcgcctgtgagcggatgctgcgtcttcaggcaagagatgcagatcct
gaagtgctgttatcggaaaccatcagacatttccgtctgtactctcagaaagcaccgaat
gacccacagcaagctgatattttaggtgctctaaagcacctaagaaaagaactgcaaagt
ctgagaaataggaaaaatgtctga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (20)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (17)   
DNA sequence (47)   
   RefSeq(nuc) (23)   
   GenBank (12)   
   EMBL (12)   
Protein domain (1)   
   Pfam (1)   
All databases (93)   

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