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: TMEM260-like
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  
Disease (2)   
   OMIM (2)   
Gene (16)   
   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 (86)   

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