Homo sapiens (human): 79879
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Entry
79879 CDS
T01001
Symbol
CCDC134, OI22
Name
(RefSeq) coiled-coil domain containing 134
KO
K25417
coiled-coil domain-containing protein 134
Organism
hsa
Homo sapiens (human)
Disease
H00506
Osteogenesis imperfecta
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09190 Not Included in Pathway or Brite
09193 Unclassified: signaling and cellular processes
99995 Signaling proteins
79879 (CCDC134)
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GFIT
Motif
Pfam:
ERK-JNK_inhib
Motif
Other DBs
NCBI-GeneID:
79879
NCBI-ProteinID:
NP_079097
OMIM:
618788
HGNC:
26185
Ensembl:
ENSG00000100147
UniProt:
Q9H6E4
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All DBs
Position
22:41800679..41832164
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AA seq
229 aa
AA seq
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MDLLQFLAFLFVLLLSGMGATGTLRTSLDPSLEIYKKMFEVKRREQLLALKNLAQLNDIH
QQYKILDVMLKGLFKVLEDSRTVLTAADVLPDGPFPQDEKLKDAFSHVVENTAFFGDVVL
RFPRIVHYYFDHNSNWNLLIRWGISFCNQTGVFNQGPHSPILSLMAQELGISEKDSNFQN
PFKIDRTEFIPSTDPFQKALREEEKRRKKEEKRKEIRKGPRISRSQSEL
NT seq
690 nt
NT seq
+upstream
nt +downstream
nt
atggaccttcttcaattcctggccttcctctttgtcctgcttttgtctgggatgggagcc
acaggcaccttgaggacctccctggacccaagcctggagatctacaagaagatgtttgag
gtgaagcggcgggagcagctgttggcactgaagaacctggcacagctgaacgacatccac
cagcagtacaagatccttgatgtcatgctcaaggggctctttaaggtgctggaggactcc
cggacagtgctcaccgctgctgatgtgctcccagatgggcccttcccccaggacgagaag
ctgaaggatgctttctcccacgtggtggagaacacggccttcttcggcgatgtggtgctg
cgcttcccgaggattgtgcactattactttgaccacaactccaactggaacctcctcatc
cgctggggtatcagtttctgcaaccagacaggcgtcttcaaccaggggccccactcgccc
atcctcagcctgatggcccaggagctggggatcagtgagaaagactccaacttccagaac
ccatttaaaatcgaccgcacagagttcattcccagcactgaccctttccagaaggccctg
agagaagaagagaaacgccgaaagaaagaggagaagcggaaggagatccgaaaaggccca
aggatctccagatcccagtctgagttatag
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