Homo sapiens (human): 286077
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Entry
286077 CDS
T01001
Symbol
FAM83H, AI3, AI3A
Name
(RefSeq) family with sequence similarity 83 member H
KO
K23931
protein FAM83H
Organism
hsa
Homo sapiens (human)
Disease
H00615
Amelogenesis imperfecta
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04812 Cytoskeleton proteins [BR:
hsa04812
]
286077 (FAM83H)
Cytoskeleton proteins [BR:
hsa04812
]
Eukaryotic cytoskeleton proteins
Intermediate filaments
Intermediate filament-binding proteins
286077 (FAM83H)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
FAM83
PLDc_2
Regulator_TrmB
Motif
Other DBs
NCBI-GeneID:
286077
NCBI-ProteinID:
NP_940890
OMIM:
611927
HGNC:
24797
Ensembl:
ENSG00000180921
UniProt:
Q6ZRV2
Q71RB4
LinkDB
All DBs
Position
8:complement(143723933..143733779)
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AA seq
1179 aa
AA seq
DB search
MARRSQSSSQGDNPLAPGYLPPHYKEYYRLAVDALAEGGSEAYSRFLATEGAPDFLCPEE
LEHVSRHLRPPQYVTREPPEGSLLDVDMDGSSGTYWPVNSDQAVPELDLGWPLTFGFQGT
EVTTLVQPPPPDSPSIKDEARRMIRSAQQVVAVVMDMFTDVDLLSEVLEAAARRVPVYIL
LDEMNAQHFLDMADKCRVNLQHVDFLRVRTVAGPTYYCRTGKSFKGHVKEKFLLVDCAVV
MSGSYSFMWSFEKIHRSLAHVFQGELVSSFDEEFRILFAQSEPLVPSAAALARMDAYALA
PYAGAGPLVGVPGVGAPTPFSFPKRAHLLFPPPREEGLGFPSFLDPDRHFLSAFRREEPP
RMPGGALEPHAGLRPLSRRLEAEAGPAGELAGARGFFQARHLEMDAFKRHSFATEGAGAV
ENFAAARQVSRQTFLSHGDDFRFQTSHFHRDQLYQQQYQWDPQLTPARPQGLFEKLRGGR
AGFADPDDFTLGAGPRFPELGPDGHQRLDYVPSSASREVRHGSDPAFAPGPRGLEPSGAP
RPNLTQRFPCQAAARPGPDPAPEAEPERRGGPEGRAGLRRWRLASYLSGCHGEDGGDDGL
PAPMEAEAYEDDVLAPGGRAPAGDLLPSAFRVPAAFPTKVPVPGPGSGGNGPEREGPEEP
GLAKQDSFRSRLNPLVQRSSRLRSSLIFSTSQAEGAAGAAAATEKVQLLHKEQTVSETLG
PGGEAVRSAASTKVAELLEKYKGPARDPGGGAGAITVASHSKAVVSQAWREEVAAPGAVG
GERRSLESCLLDLRDSFAQQLHQEAERQPGAASLTAAQLLDTLGRSGSDRLPSRFLSAQS
HSTSPQGLDSPLPLEGSGAHQVLHNESKGSPTSAYPERKGSPTPGFSTRRGSPTTGFIEQ
KGSPTSAYPERRGSPVPPVPERRSSPVPPVPERRGSLTLTISGESPKAGPAEEGPSGPME
VLRKGSLRLRQLLSPKGERRMEDEGGFPVPQENGQPESPRRLSLGQGDSTEAATEERGPR
ARLSSATANALYSSNLRDDTKAILEQISAHGQKHRAVPAPSPGPTHNSPELGRPPAAGVL
APDMSDKDKCSAIFRSDSLGTQGRLSRTLPASAEERDRLLRRMESMRKEKRVYSRFEVFC
KKEEASSPGAGEGPAEEGTRDSKVGKFVPKILGTFKSKK
NT seq
3540 nt
NT seq
+upstream
nt +downstream
nt
atggcccgtcgctctcagagctcctcgcagggggacaacccactggcacccgggtacctg
ccgcctcactacaaagagtactaccgcctggcggtggatgcactggccgagggtggctcg
gaggcctacagccgcttcctcgctaccgagggggcaccagacttcctgtgccctgaagag
ctggaacatgtgagccgacaccttcggcctccgcagtatgttacccgagagccacctgaa
ggcagccttctcgacgtggacatggatggctcctcgggtacatactggccagtgaactca
gaccaggccgtgcctgagcttgatttgggctggcctctgaccttcggcttccagggcacc
gaggtgaccaccttggtgcagccaccgccccccgacagccccagtatcaaggatgaggcc
cgcaggatgatccgttccgcccagcaggtggtggccgtggtgatggacatgttcactgat
gtggacctgctcagcgaagtgctggaggccgcggcccgtcgggtcccagtctacatcctg
ctggatgagatgaacgcgcagcacttcctggacatggccgacaagtgccgtgtcaacctg
cagcacgtggatttcctgcgcgtacggactgtggcgggccccacctactactgccgcact
gggaagtccttcaagggccacgtcaaggagaagttcctgctggtggactgtgccgtggtg
atgagtgggagctacagcttcatgtggtcctttgagaagatccaccgcagcctggcgcac
gtgttccaaggagagctggtctccagcttcgacgaggagttccgcatcctcttcgcgcag
tccgagccgcttgtgccctcggccgcggccctggcccgcatggacgcctatgccctggct
ccgtatgccggggccgggcctctcgtgggcgtccctggggtcggggcgccaacccccttc
tccttccctaaacgagcgcacctcctgttcccgccaccccgggaagagggcctgggcttc
ccctccttcctcgacccggaccgccacttcctgtcggccttccgccgggaggagccgccg
cggatgccggggggcgcgctggaaccgcacgcggggctgcggccgctctcgcggcgcctg
gaggccgaggccgggccggctggggagctcgcgggcgcgcggggcttcttccaggcgcgg
cacctggagatggacgccttcaagcggcacagcttcgcgaccgagggcgcgggcgccgtg
gagaacttcgcggccgcgcggcaggtgtcgcggcagacgttcctcagccacggcgacgac
ttccgcttccagaccagccacttccaccgtgaccagctctaccagcagcagtaccagtgg
gacccgcagctcacgccggcgcgcccgcaaggcctgttcgagaagcttcgcgggggccgc
gcgggtttcgcggacccggatgacttcaccctgggcgccgggccccgcttcccggagctc
ggacccgacgggcaccagcggctggactacgtgccgtccagcgcgtcccgcgaggtgcgc
cacggctcggaccccgccttcgcgcccggaccccgcggcctggagcccagcggagccccg
cgccccaacctgacccagcgcttcccatgccaggccgcggcgaggccgggcccagacccc
gctcccgaggcggagccggagcgcaggggcgggcccgaggggcgggcagggctgcggcgc
tggcgtttggcctcctacttgagcggctgccacggcgaggatgggggcgacgacggccta
ccggcgcccatggaagcggaggcttacgaagacgacgtgctggctcccgggggccgggca
cctgccggcgacctgctcccctcggccttccgcgtcccagcagccttccccaccaaggtc
ccggtgccaggcccgggcagcggcggcaacggcccagagcgcgagggcccggaggagcct
ggcctggccaagcaggactcattccgctcgcgcctgaaccccctggtccagcgcagctcc
aggctgcgctcctcgctcatcttcagcacgtcacaggccgagggcgcggccggggctgcg
gcggccactgagaaggtgcagctgctgcacaaggagcagacggtcagcgagacgctgggg
cccggcggagaggccgtgcgctccgcggcttccaccaaggtggcggagctgctggagaag
tacaagggcccagcccgtgatcccggcggcggcgcgggcgccatcaccgttgccagccac
agcaaggccgtcgtgtcccaggcgtggcgggaagaggtggcggccccaggtgccgtgggg
ggcgagcgccgcagcctcgagagctgcctgctggacctgcgcgactcctttgcacagcag
ctgcaccaggaggcggagcggcagccgggagccgcgtcgctcaccgcggcgcagctgctc
gacacactgggccggagcggctccgaccgcctgccttcccgcttcctctctgcccagagc
cactcaacgtccccgcaagggctggacagccctctgccgctggaagggtccggagcgcac
caggtgctccataatgagtcaaaagggagccccacctcggcttaccctgagcggaagggg
agccccacgcctgggttttccactcgaagaggaagtccaactacaggatttatcgagcag
aaggggagccccacctcagcctaccccgagcgcaggggtagtccggtgccccccgtgccg
gagcgcaggagcagtccggtgccccccgtgccggagcgcaggggcagcctcacccttacc
atctccggggagtccccgaaggccgggcccgcggaggaggggccgagcggccccatggaa
gtcctgcgcaaaggctccttgcgtcttaggcagctgctgagccccaagggcgagcggcgc
atggaggatgagggtggcttcccagtgccgcaggagaacggccaacccgagagcccgcgg
cgtctgtcactgggccagggtgacagcacggaggctgccacagaagagcggggtccgcgg
gcgcgcctgtcctcagccacggccaacgccttgtacagcagcaaccttcgggatgacacg
aaggccattctggagcagatcagtgcccacggccagaagcaccgtgcggtccctgccccg
agccccggcccgacccacaacagccccgagctaggccgtccaccggctgctggcgtcctg
gccccagatatgtccgacaaggacaagtgttcagccatcttccgctcggacagcttgggg
acccagggccggctgagccgcacgctgccagccagcgcggaggagcgcgatcggctgctg
cgccgcatggagagcatgcgcaaggagaagcgcgtgtacagccgcttcgaggtcttctgc
aagaaagaggaggccagcagccctggggcaggggaaggccccgcggaggagggcaccagg
gacagcaaggtgggcaagttcgtgcccaagatcctgggcacgttcaaaagcaagaagtga
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