KEGG   Homo sapiens (human): 51244
Entry
51244             CDS       T01001                                 
Symbol
CCDC174, C3orf19, HSPC212, IHPM, IHPMR, ctr1
Name
(RefSeq) coiled-coil domain containing 174
  KO
K25178  coiled-coil domain-containing protein 174
Organism
hsa  Homo sapiens (human)
Disease
H01922  Infantile hypotonia with psychomotor retardation and characteristic facies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    51244 (CCDC174)
   03041 Spliceosome [BR:hsa03041]
    51244 (CCDC174)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    EJC complex
     51244 (CCDC174)
Spliceosome [BR:hsa03041]
 Complex C
  Other components
   EJC/TREX
    51244 (CCDC174)
SSDB
Motif
Pfam: DUF4078
Other DBs
NCBI-GeneID: 51244
NCBI-ProteinID: NP_057558
OMIM: 616735
HGNC: 28033
Ensembl: ENSG00000154781
UniProt: Q6PII3
Position
3:14651762..14672655
AA seq 467 aa
MDRRKKPLDVTASSLVDLKAELFRKQEEFKQEKLLKDSGVFGKPKTTNKKPSIWSKQNVG
VSNRAEKDAEQKIEEQKTLDKAREKLEEKAKLYEKMTKGDFIDEEVEDMYLVDFTQKIID
KRKEMEASGAHRDSQKAGERDDDEENLPEGEIPPPQDPSEEWVDYVDSLGRSRRCMRKDL
PDLLEMDKNLQGRLFISPANEKTLLSEDMRKELQRQQWEEEEREALKRPMGPVHYEDIRE
NEARQLGVGYFAFARDKELRNKQMKTLEMLREQTTDQRTKRENIKEKRKAILEARLAKLR
QKKMKKSKEGGTEEENRDGDVIGPLPPEPEAVPTPRPAAQSSKVEVIVQERKDTKPGVPH
IREWDRGKEFSFGYWSKRQSDLRAERDPEFAPPSDYFVGQKRTGFSSSQAWSRPGPAQSD
PGQCPDQSHGPSPEHTSPTPAPDNPPQAPTVTFKTLDDMISYYKQVT
NT seq 1404 nt   +upstreamnt  +downstreamnt
atggaccgtaggaaaaagcctttggacgtcacggcctcctcgttggtagatcttaaggct
gaactcttccgaaagcaagaagaattcaaacaagaaaaacttctaaaagattctggagtt
tttggaaaaccaaaaacaactaacaagaaaccaagtatctggagcaaacagaatgtaggc
gtttcaaatcgagctgagaaggatgctgaacagaagattgaagaacagaagactttagac
aaagcaagggaaaaattggaagaaaaagccaaattatatgaaaaaatgactaaaggagac
tttatagatgaagaagtagaggatatgtaccttgtggatttcacacagaagatcatagac
aagcgcaaagaaatggaggcatctggtgcccatagagattctcaaaaggcaggagaaagg
gacgacgatgaggaaaaccttcctgagggagagatccctcctccccaagaccccagtgaa
gaatgggtggattacgtggactctttggggcgttcccggcgctgtatgagaaaggatttg
ccagatctgctggagatggataaaaatcttcaggggagactttttattagtcctgctaat
gaaaaaaccctattatctgaagatatgagaaaagaacttcagcgccagcaatgggaggaa
gaagaaagagaggccctgaagaggcccatggggcccgtacattatgaagacattcgggaa
aatgaggcccggcaacttggtgttgggtattttgcctttgcccgagacaaagagttgaga
aacaagcagatgaaaaccttagagatgctgcgtgaacagacaacagatcagagaacaaaa
cgagaaaacataaaggaaaagcgaaaggctatcttagaggcaagacttgccaaacttcga
caaaaaaagatgaaaaaatcaaaagaaggtggaacagaagaagaaaatagagatggagat
gttattgggcctttgccaccggagccagaggctgtgccaaccccacgtcctgctgcccag
agtagcaaagtagaagtcattgtccaggagaggaaggacaccaagcctggagtgccacac
atccgggagtgggaccgcggaaaagaattttcctttggatactggtcgaagaggcagtca
gatctccgggctgagagagatcctgagtttgccccgccgtcagattactttgtgggtcag
aagagaactggtttttccagcagccaggcatggagcagacctgggccagcacagagtgac
ccagggcagtgccctgaccagagccacggacctagccctgaacatacgtcacccactcct
gcccccgacaacccaccacaagcccccacagttactttcaaaactctggatgacatgatt
tcctattacaaacaagtgacatga

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