KEGG   Homo sapiens (human): 57003
Entry
57003             CDS       T01001                                 
Symbol
CCDC47, GK001, MSTP041, THNS
Name
(RefSeq) coiled-coil domain containing 47
  KO
K24962  PAT complex subunit CCDC47
Organism
hsa  Homo sapiens (human)
Disease
H02698  Trichohepatoneurodevelopmental syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03110 Chaperones and folding catalysts [BR:hsa03110]
    57003 (CCDC47)
   04131 Membrane trafficking [BR:hsa04131]
    57003 (CCDC47)
Chaperones and folding catalysts [BR:hsa03110]
 Other chaperones and cochaperones
  Others
   57003 (CCDC47)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Others
   Multi-pass translocon (MPT) complex
    57003 (CCDC47)
SSDB
Motif
Pfam: CCDC47
Other DBs
NCBI-GeneID: 57003
NCBI-ProteinID: NP_064583
OMIM: 618260
HGNC: 24856
Ensembl: ENSG00000108588
UniProt: Q96A33
Structure
LinkDB
Position
17:complement(63745255..63773597)
AA seq 483 aa
MKAFHTFCVVLLVFGSVSEAKFDDFEDEEDIVEYDDNDFAEFEDVMEDSVTESPQRVIIT
EDDEDETTVELEGQDENQEGDFEDADTQEGDTESEPYDDEEFEGYEDKPDTSSSKNKDPI
TIVDVPAHLQNSWESYYLEILMVTGLLAYIMNYIIGKNKNSRLAQAWFNTHRELLESNFT
LVGDDGTNKEATSTGKLNQENEHIYNLWCSGRVCCEGMLIQLRFLKRQDLLNVLARMMRP
VSDQVQIKVTMNDEDMDTYVFAVGTRKALVRLQKEMQDLSEFCSDKPKSGAKYGLPDSLA
ILSEMGEVTDGMMDTKMVHFLTHYADKIESVHFSDQFSGPKIMQEEGQPLKLPDTKRTLL
FTFNVPGSGNTYPKDMEALLPLMNMVIYSIDKAKKFRLNREGKQKADKNRARVEENFLKL
THVQRQEAAQSRREEKKRAEKERIMNEEDPEKQRRLEEAALRREQKKLEKKQMKMKQIKV
KAM
NT seq 1452 nt   +upstreamnt  +downstreamnt
atgaaagccttccacactttctgtgttgtccttctggtgtttgggagtgtctctgaagcc
aagtttgatgattttgaggatgaggaggacatagtagagtatgatgataatgacttcgct
gaatttgaggatgtcatggaagactctgttactgaatctcctcaacgggtcataatcact
gaagatgatgaagatgagaccactgtggagttggaagggcaggatgaaaaccaagaagga
gattttgaagatgcagatacccaggagggagatactgagagtgaaccatatgatgatgaa
gaatttgaaggttatgaagacaaaccagatacttcttctagcaaaaataaagacccaata
acgattgttgatgttcctgcacacctccagaacagctgggagagttattatctagaaatt
ttgatggtgactggtctgcttgcttatatcatgaattacatcattgggaagaataaaaac
agtcgccttgcacaggcctggtttaacactcatagggagcttttggagagcaactttact
ttagtgggggatgatggaactaacaaagaagccacaagcacaggaaagttgaaccaggag
aatgagcacatctataacctgtggtgttctggtcgagtgtgctgtgagggcatgcttatc
cagctgaggttcctcaagagacaagacttactgaatgtcctggcccggatgatgaggcca
gtgagtgatcaagtgcaaataaaagtaaccatgaatgatgaagacatggatacctacgta
tttgctgttggcacacggaaagccttggtgcgactacagaaagagatgcaggatttgagt
gagttttgtagtgataaacctaagtctggagcaaagtatggactgccggactctttggcc
atcctgtcagagatgggagaagtcacagacggaatgatggatacaaagatggttcacttt
cttacacactatgctgacaagattgaatctgttcatttttcagaccagttctctggtcca
aaaattatgcaagaggaaggtcagcctttaaagctacctgacactaagaggacactgttg
tttacatttaatgtgcctggctcaggtaacacttacccaaaggatatggaggcactgcta
cccctgatgaacatggtgatttattctattgataaagccaaaaagttccgactcaacaga
gaaggcaaacaaaaagcagataagaaccgtgcccgagtagaagagaacttcttgaaactg
acacatgtgcaaagacaggaagcagcacagtctcggcgggaggagaaaaaaagagcagag
aaggagcgaatcatgaatgaggaagatcctgagaaacagcgcaggctggaggaggctgca
ttgaggcgtgagcaaaagaagttggaaaagaagcaaatgaaaatgaaacaaatcaaagtg
aaagccatgtaa

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