KEGG   Homo sapiens (human): 286077Help
Entry
286077            CDS       T01001                                 

Gene name
FAM83H, AI3, AI3A
Definition
(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 OrthologParalogGFIT
Motif
Pfam: FAM83 PLDc_2 Regulator_TrmB
Motif
Other DBs
NCBI-GeneID: 286077
NCBI-ProteinID: NP_940890
OMIM: 611927
HGNC: 24797
Ensembl: ENSG00000180921
Vega: OTTHUMG00000133559
Pharos: Q6ZRV2(Tbio)
UniProt: Q6ZRV2 Q71RB4
Position
8q24.3
AA seq 1179 aa AA seqDB 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  +upstreamnt  +downstreamnt
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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