KEGG   Homo sapiens (human): 23363
Entry
23363             CDS       T01001                                 
Symbol
OBSL1
Name
(RefSeq) obscurin like cytoskeletal adaptor 1
  KO
K19574  obscurin-like protein 1
Organism
hsa  Homo sapiens (human)
Disease
H00509  3M syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    23363 (OBSL1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   3M complex
    23363 (OBSL1)
SSDB
Motif
Pfam: I-set Ig_3 ig Ig_2 V-set Izumo-Ig Ig_4 C2-set_2 BiPBP_C fn3
Other DBs
NCBI-GeneID: 23363
NCBI-ProteinID: NP_056126
OMIM: 610991
HGNC: 29092
Ensembl: ENSG00000124006
Pharos: O75147(Tbio)
UniProt: O75147
Structure
Position
2:complement(219547206..219571539)
AA seq 1896 aa
MKASSGDQGSPPCFLRFPRPVRVVSGAEAELKCVVLGEPPPVVVWEKGGQQLAASERLSF
PADGAEHGLLLTAALPTDAGVYVCRARNAAGEAYAAAAVTVLEPPASDPELQPAERPLPS
PGSGEGAPVFLTGPRSQWVLRGAEVVLTCRAGGLPEPTLYWEKDGMALDEVWDSSHFALQ
PGRAEDGPGASLALRILAARLPDSGVYVCHARNAHGHAQAGALLQVHQPPESPPADPDEA
PAPVVEPLKCAPKTFWVNEGKHAKFRCYVMGKPEPEIEWHWEGRPLLPDRRRLMYRDRDG
GFVLKVLYCQAKDRGLYVCAARNSAGQTLSAVQLHVKEPRLRFTRPLQDVEGREHGIAVL
ECKVPNSRIPTAWFREDQRLLPCRKYEQIEEGTVRRLIIHRLKADDDGIYLCEMRGRVRT
VANVTVKGPILKRLPRKLDVLEGENAVLLVETLEAGVEGRWSRDGEELPVICQSSSGHMH
ALVLPGVTREDAGEVTFSLGNSRTTTLLRVKCVKHSPPGPPILAEMFKGHKNTVLLTWKP
PEPAPETPFIYRLERQEVGSEDWIQCFSIEKAGAVEVPGDCVPSEGDYRFRICTVSGHGR
SPHVVFHGSAHLVPTARLVAGLEDVQVYDGEDAVFSLDLSTIIQGTWFLNGEELKSNEPE
GQVEPGALRYRIEQKGLQHRLILHAVKHQDSGALVGFSCPGVQDSAALTIQESPVHILSP
QDRVSLTFTTSERVVLTCELSRVDFPATWYKDGQKVEESELLVVKMDGRKHRLILPEAKV
QDSGEFECRTEGVSAFFGVTVQDPPVHIVDPREHVFVHAITSECVMLACEVDREDAPVRW
YKDGQEVEESDFVVLENEGPHRRLVLPATQPSDGGEFQCVAGDECAYFTVTITDVSSWIV
YPSGKVYVAAVRLERVVLTCELCRPWAEVRWTKDGEEVVESPALLLQKEDTVRRLVLPAV
QLEDSGEYLCEIDDESASFTVTVTEPPVRIIYPRDEVTLIAVTLECVVLMCELSREDAPV
RWYKDGLEVEESEALVLERDGPRCRLVLPAAQPEDGGEFVCDAGDDSAFFTVTVTAPPER
IVHPAARSLDLHFGAPGRVELRCEVAPAGSQVRWYKDGLEVEASDALQLGAEGPTRTLTL
PHAQPEDAGEYVCETRHEAITFNVILAEPPVQFLALETTPSPLCVAPGEPVVLSCELSRA
GAPVVWSHNGRPVQEGEGLELHAEGPRRVLCIQAAGPAHAGLYTCQSGAAPGAPSLSFTV
QVAEPPVRVVAPEAAQTRVRSTPGGDLELVVHLSGPGGPVRWYKDGERLASQGRVQLEQA
GARQVLRVQGARSGDAGEYLCDAPQDSRIFLVSVEEPLLVKLVSELTPLTVHEGDDATFR
CEVSPPDADVTWLRNGAVVTPGPQVEMAQNGSSRILTLRGCQLGDAGTVTLRAGSTATSA
RLHVRETELLFLRRLQDVRAEEGQDVCLEVETGRVGAAGAVRWVRGGQPLPHDSRLSMAQ
DGHIHRLFIHGVILADQGTYGCESHHDRTLARLSVRPRQLRVLRPLEDVTISEGGSATFQ
LELSQEGVTGEWARGGVQLYPGPKCHIHSDGHRHRLVLNGLGLADSGCVSFTADSLRCAA
RLIVREVPVTIVRGPHDLEVTEGDTATFECELSQALADVTWEKDGNALTPSPRLRLQALG
TRRLLQLRRCGPSDAGTYSCAVGTARAGPVRLTVRERTVAVLSELRSVSAREGDGATFEC
TVSEVETTGRWELGGRPLRPGARVRIRQEGKKHILVLSELRAEDAGEVRFQAGPAQSLAL
LEVEALPLQMCRHPPREKTVLVGRRAVLEVTVSRSGGHVCWLREGAELCPGDKYEMRSHG
PTHSLVIHDVRPEDQGTYCCQAGQDSTHTRLLVEGN
NT seq 5691 nt   +upstreamnt  +downstreamnt
atgaaggcgagctcgggggatcaggggagccccccgtgcttcctgcgcttcccgcggcct
gtgcgggtggtaagtggcgccgaggccgagctcaagtgcgtggtcctgggggagccgccg
cctgtagtggtgtgggagaagggcgggcagcagctggcggcctcggaacgcctgagcttc
ccggcggacggcgcggagcacggcctgctgctgaccgccgcactgcccaccgacgcgggg
gtctacgtgtgccgcgcccgcaacgcggccggcgaggcctacgcggcggccgccgtcacc
gtgctggagccgccggcctccgaccccgagctgcagcccgccgagcgcccgctgccatcg
ccggggtccggggagggcgccccggtcttcctcacggggcctcgatcccagtgggtgctg
cggggggcggaggtggtgctgacgtgccgggcggggggcctccccgagcccacactgtac
tgggagaaggacgggatggccctggacgaagtgtgggacagcagccacttcgcgctccag
ccgggccgcgccgaggacggccccggcgcgagcctggcactgcgcatcctggcggctcgg
ctgccggattccggcgtctacgtgtgccacgcccgcaacgcgcacggccacgcgcaggcg
ggggcgctgctccaggtgcaccagccccccgagagcccgcccgcggaccccgacgaggcc
cccgcgccggtggtggagccgctcaagtgcgcgcctaagaccttctgggtgaacgagggc
aagcacgccaagttccgctgctacgtgatgggcaagcccgagcccgagatcgaatggcac
tgggagggccgcccgctgctcccggaccgccgccgcctcatgtaccgcgaccgcgacggc
ggcttcgtgctcaaggtgctttactgccaggccaaggatcgtgggctctacgtctgcgcc
gcgcgcaactcggcgggccagacgctcagtgccgtgcagctgcacgtgaaagagccccgc
ctccggttcacacggcccctgcaggacgtggagggccgtgagcacgggattgccgtgctg
gaatgtaaagtacccaactcccgcatccccacggcctggttccgtgaggaccagcggctg
ctgccctgccgcaagtacgagcagatcgaagagggcactgtccggcgcctcatcatccac
aggctgaaggcagacgatgatggtatctacctgtgcgagatgcggggccgggtgcgcacc
gtggccaacgtcacagtcaaagggcccatcctgaagcgcctgccccggaagctcgacgtc
ctggaaggagagaatgctgtgctgctagtggaaactctagaggccggggtcgagggacgc
tggagccgtgatggggaggagctgccggtcatctgccagagcagctcaggccacatgcat
gccctggtccttccaggggtcacccgagaggatgctggcgaggtcacctttagcctgggc
aactcccgtaccactacgcttctcagagtaaaatgtgtcaagcacagtcccccaggaccc
cccatattggcagagatgttcaagggccacaagaacacggtcctgttgacctggaagcct
cccgagccagctcccgagaccccattcatctaccggctggagcggcaggaagtgggctct
gaagactggattcagtgcttcagcatcgagaaagccggagccgtggaggtgccgggcgac
tgtgtgccctccgagggtgactaccgcttccgcatctgcacagtcagcggacatggccgt
agtccccacgtggtgttccacggttctgctcaccttgtgcccacagctcgcctggtggca
ggtctggaggatgtgcaggtatacgacggggaagatgccgtcttctccctcgatctctcc
accatcatccagggtacctggttccttaatggggaagagctcaagagtaacgagccggag
ggccaggtggaacctggggccctgcggtaccgtatagagcagaagggtctgcagcacaga
ctcatcctgcatgccgtcaagcaccaggacagcggtgccctggtcggcttcagctgcccc
ggcgtgcaggactcagctgccctcacaatccaagagagcccggtgcacatcctgagcccc
caggacagggtgtcgttgaccttcacaacctcagagcgggtggtgctgacttgtgagctc
tcaagggtggacttcccggcaacctggtacaaggatgggcagaaggtggaggagagcgag
ttgctggtggtgaagatggatgggcgcaaacaccgtctgatcctgcctgaggccaaagtc
caggacagtggcgagtttgagtgcaggacagaaggggtctcggccttcttcggcgtcact
gtccaagatcctcccgtgcacatcgtggacccccgagaacatgtgttcgtgcatgccata
acttccgagtgtgtcatgctggcctgtgaggtggaccgagaggacgcccctgtgcgttgg
tacaaggacgggcaggaggtggaggagagtgacttcgtggtgctggagaatgaggggccc
catcgccgcctggtgctgcccgccacccagccctcagacgggggcgagtttcagtgcgtc
gctggagatgagtgtgcctacttcactgtcaccatcacagacgtctcctcgtggatcgtg
tatcccagcggcaaggtgtatgtggcagccgtgcgcctggagcgtgtggtgctgacctgt
gagctatgccggccctgggcagaggtgcgctggaccaaggatggagaggaggtggtggag
agccccgcgctgctcctgcagaaggaagacactgtccgccgcctggtgctgcccgctgtc
cagctcgaggactccggcgagtacttgtgtgaaattgacgatgagtcggcctccttcact
gtcaccgtcacagaacccccagtgcggatcatataccctcgcgatgaggtgaccttgatc
gccgtgaccttggagtgtgtggtgctgatgtgtgaactgtctcgggaggatgcccctgtg
cgctggtacaaggatgggctggaagtggaggagagcgaggccctggtgctggagagggat
gggccacgctgccgcctggtgctacctgctgctcagcccgaggacgggggcgagtttgta
tgtgatgctggagatgactcggccttcttcactgtcactgtcacagccccaccagagagg
attgtgcacccggcagcccgctccctggatctgcattttggggctccagggcgcgtggag
ctgcgctgtgaggtggccccagctgggtctcaggtgcgctggtacaaggacgggctggaa
gtggaggcatcagatgccctgcagctgggtgccgaggggcccacccgcaccctgaccctg
ccccacgcccagcctgaggacgccggggagtatgtgtgtgagacccggcatgaggccatc
accttcaatgtcatcctggctgagcctccagtgcagttccttgctctagagacaactcca
agcccgctctgtgtggcccctggggagccagtggtgctgagctgtgaactgtcccgggct
ggcgcccccgtggtctggagccacaatgggaggcccgtgcaggagggcgagggcctagag
ctccatgccgagggcccccgccgagtcctctgcatccaggctgcaggcccagcccatgca
gggctctacacctgccagtctggagcagcccccggagccccaagcctcagcttcaccgtc
caggtggctgagccccctgtgcgggtggtagctcccgaggcagcccagacgagggttcgg
agcaccccaggcggggacctagagctggtggtgcacctctccgggccagggggccctgta
cgctggtacaaggacggggagcgactggcaagccaggggcgggtgcagctggagcaggcc
ggggccaggcaggtgctgcgggtgcagggggcacggagcggggacgctggggagtacctg
tgcgatgcgccccaggacagccgcatcttccttgtcagcgtggaagagccactgctggtg
aagctggtctcggagctgacaccactcactgtccacgagggcgatgatgccacgttccgg
tgtgaagtctccccaccagatgccgatgtcacctggctgcgcaatggggccgtcgtcact
ccagggccccaggtggagatggcccagaatggttcaagccgcatcttaaccttgcgaggc
tgccaactgggggatgcagggaccgtgactttgcgggcagggagcacggccacaagtgcc
cggctccatgttcgagagacagagctgctgttcctacggcggttgcaggatgtgcgggca
gaggaaggccaggatgtgtgtctcgaagtggagacaggccgagtgggtgcagcgggggcc
gtgcgctgggtgcgaggtgggcagcccctgccccacgactctcgcctgtccatggcccag
gatgggcacatccaccgcctcttcatccatggtgtcatactggccgaccagggcacctac
ggctgcgagagccaccacgatcgcaccctggccaggctcagcgtgaggccgaggcagctg
agggtgctgcggcctctggaggacgtgaccatcagtgaggggggcagtgccaccttccag
ctggagctgtcccaggaaggtgtgaccggggagtgggcccggggtggagtacagctgtat
ccaggacccaagtgtcacatccactcggacggccaccgtcaccgactggtactcaatggc
ctgggcctggccgactcaggctgtgtctccttcacagcggattccctgcgctgcgcagcc
agactcattgtgagagaggtcccagtgaccatcgtgcgggggccacacgacctagaggtg
accgagggcgacacagctacgttcgagtgcgagctttcccaagctttggctgatgttacc
tgggagaaggacgggaacgcgcttacgcctagcccgcggctccggctccaggccctcggc
acgcgccgccttctccagctgcgacgctgcggcccctcggacgccgggacctacagctgc
gcggtggggacggcccgcgccggaccggtccgcctgaccgtgcgcgagcgtactgtggcg
gtactctccgagctgcggtcggtgagcgcccgcgaaggcgacggcgctacgttcgagtgc
accgtgtcggaggtcgagaccacggggcgctgggagctcggaggccgcccgctgagaccc
ggagcccgcgtccgcatccgacaggaagggaagaaacacattctggtgcttagcgagctg
cgcgccgaggacgccggtgaagtccgcttccaggcggggcccgcccagtccctggctcta
ctggaagtggaggcattgcctctccagatgtgccgccacccccctcgcgagaagaccgtt
ctggtgggccgccgggcggtgctggaggtgactgtgtcccgctcggggggccacgtgtgc
tggctgcgggagggggccgagctgtgcccgggagataagtatgagatgcgcagccacggc
cccacccacagcctggtcatccatgacgttcgacctgaggaccaaggcacttactgctgc
caggccggccaggacagcacccacacacggctgctggtagagggcaactag

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