Homo sapiens (human): 9499 Help Entry 9499              CDS       T01001                                  Symbol MYOT, LGMD1, LGMD1A, MFM3, TTID, TTOD Name (RefSeq) myotilin   KO K19875   myotilin Organism hsa  Homo sapiens (human) Pathway hsa04820   Cytoskeleton in muscle cells Network nt06539  Cytoskeleton in muscle cells   Element N01820   Sarcomere, Z-disc Disease H00595   Myofibrillar myopathies H01291   Spheroid body myopathy Brite KEGG Orthology (KO) [BR:hsa00001]  09140 Cellular Processes   09142 Cell motility    04820 Cytoskeleton in muscle cells     9499 (MYOT)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    04131 Membrane trafficking [BR:hsa04131]     9499 (MYOT)   09183 Protein families: signaling and cellular processes    04812 Cytoskeleton proteins [BR:hsa04812]     9499 (MYOT) Membrane trafficking [BR:hsa04131]  Others   Actin-binding proteins    Others     9499 (MYOT) Cytoskeleton proteins [BR:hsa04812]  Eukaryotic cytoskeleton proteins   Actin filaments / Microfilaments    Actin-binding proteins     Cross-linking proteins      9499 (MYOT) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  I-set Ig_3 ig Ig_2 V-set BiPBP_C Ig_6 C2-set_2 PKcGMP_CC Receptor_2B4 Motif Other DBs NCBI-GeneID:  9499 NCBI-ProteinID:  NP_006781 OMIM:  604103 HGNC:  12399 Ensembl:  ENSG00000120729 UniProt:  Q9UBF9 A0A0C4DFM5 Structure PDB LinkDB All DBs Position 5:137867860..137887851 Genome browser AA seq 498 aa AA seqDB search MFNYERPKHFIQSQNPCGSRLQPPGPETSSFSSQTKQSSIIIQPRQCTEQRFSASSTLSS HITMSSSAFPASPQQHAGSNPGQRVTTTYNQSPASFLSSILPSQPDYNSSKIPSAMDSNY QQSSAGQPINAKPSQTANAKPIPRTPDHEIQGSKEALIQDLERKLKCKDTLLHNGNQRLT YEEKMARRLLGPQNAAAVFQAQDDSGAQDSQQHNSEHARLQVPTSQVRSRSTSRGDVNDQ DAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSGLPAPDVSWYLNGRTVQSDDLHKMIV SEKGLHSLIFEVVRASDAGAYACVAKNRAGEATFTVQLDVLAKEHKRAPMFIYKPQSKKV LEGDSVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQDNTGRVTLLIKDVNKKDAGW YTVSAVNEAGVTTCNTRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPE GEFQRLAAQSGLYESEEL NT seq 1497 nt NT seq  +upstreamnt  +downstreamnt atgtttaactacgaacgtccaaaacacttcatccagtcccaaaacccatgtggctccaga ttgcagcctcctggaccagaaacctccagcttctctagccagaccaaacagtcttccatt atcatccagccccgccagtgtacagagcaaagattttctgcctcctcaacactgagctct cacatcaccatgtcctcctctgctttccctgcttctccccagcagcatgctggctccaac ccaggccaaagggttacaaccacctataaccagtccccagccagcttcctcagctccata ttaccatcacagcctgattacaatagcagtaaaatcccttccgctatggattccaactat caacagtcctcagctggccaacctataaatgcaaagccatcccaaactgcaaatgctaag cccataccaagaactcctgatcatgaaatacaaggatcaaaagaagctttgattcaagat ttggaaagaaagctgaaatgcaaggacacccttcttcataatggaaatcaacgtctaaca tatgaagagaagatggctcgcagattgctaggaccacagaatgcagctgctgtgtttcaa gctcaggatgacagtggtgcacaagactcgcagcaacacaactcagaacatgcgcgactg caagttcctacatcacaagtaagaagtagatcaacctcaaggggagatgtgaatgatcag gatgcaatccaggagaaattttacccaccacgtttcattcaagtgccagagaacatgtcg attgatgaaggaagattctgcagaatggacttcaaagtgagtggactgccagctcctgat gtgtcatggtatctaaatggaagaacagttcaatcagatgatttgcacaaaatgatagtg tctgagaagggtcttcattcactcatctttgaagtagtcagagcttcagatgcaggggct tatgcatgtgttgccaagaatagagcaggagaagccaccttcactgtgcagctggatgtc cttgcaaaagaacataaaagagcaccaatgtttatctacaaaccacagagcaaaaaagtt ttagagggagattcagtgaaactagaatgccagatctcggctatacctccaccaaagctt ttctggaaaagaaataatgaaatggtacaattcaacactgaccgaataagcttatatcaa gataacactggaagagttactttactgataaaagatgtaaacaagaaagatgctgggtgg tatactgtgtcagcagttaatgaagctggagtgactacatgtaacacaagattagacgtt acggcacgtccaaaccaaactcttccagctcctaagcagttacgggttcgaccaacattc agcaaatatttagcacttaatgggaaaggtttgaatgtaaaacaagcttttaacccagaa ggagaatttcagcgtttggcagctcaatctggactctatgaaagtgaagaactttaa

Homo sapiens (human): 88 Help Entry 88                CDS       T01001                                  Symbol ACTN2, CMD1AA, CMH23, CMYP8, MPD6, MYOCOZ Name (RefSeq) actinin alpha 2   KO K21073   actinin alpha 2/3 Organism hsa  Homo sapiens (human) Pathway hsa04820   Cytoskeleton in muscle cells hsa05412   Arrhythmogenic right ventricular cardiomyopathy Network nt06539  Cytoskeleton in muscle cells   Element N01815   Vinculin-talin-integrin macromolecular complex N01820   Sarcomere, Z-disc Disease H00292   Hypertrophic cardiomyopathy H00294   Dilated cardiomyopathy H00594   Distal myopathy H01810   Congenital myopathy Brite KEGG Orthology (KO) [BR:hsa00001]  09140 Cellular Processes   09142 Cell motility    04820 Cytoskeleton in muscle cells     88 (ACTN2)  09160 Human Diseases   09166 Cardiovascular disease    05412 Arrhythmogenic right ventricular cardiomyopathy     88 (ACTN2)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    04131 Membrane trafficking [BR:hsa04131]     88 (ACTN2)   09183 Protein families: signaling and cellular processes    04812 Cytoskeleton proteins [BR:hsa04812]     88 (ACTN2)    04147 Exosome [BR:hsa04147]     88 (ACTN2) Membrane trafficking [BR:hsa04131]  Exocytosis   Small GTPases and associated proteins    Rab associated proteins     88 (ACTN2) Cytoskeleton proteins [BR:hsa04812]  Eukaryotic cytoskeleton proteins   Actin filaments / Microfilaments    Actin-binding proteins     Cross-linking proteins      88 (ACTN2) Exosome [BR:hsa04147]  Exosomal proteins   Exosomal proteins of other body fluids (saliva and urine)    88 (ACTN2)   Exosomal proteins of colorectal cancer cells    88 (ACTN2)   Exosomal proteins of bladder cancer cells    88 (ACTN2) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Spectrin CH EFhand_Ca_insen EF-hand_1 EF-hand_7 EF-hand_6 EF-hand_8 CAMSAP_CH XisI AIF-1 Nsp1_C EF-hand_11 Motif Other DBs NCBI-GeneID:  88 NCBI-ProteinID:  NP_001094 OMIM:  102573 HGNC:  164 Ensembl:  ENSG00000077522 UniProt:  P35609 Structure PDB LinkDB All DBs Position 1:236686499..236764631 Genome browser AA seq 894 aa AA seqDB search MNQIEPGVQYNYVYDEDEYMIQEEEWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIE NIEEDFRNGLKLMLLLEVISGERLPKPDRGKMRFHKIANVNKALDYIASKGVKLVSIGAE EIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNIQNFHTSW KDGLGLCALIHRHRPDLIDYSKLNKDDPIGNINLAMEIAEKHLDIPKMLDAEDIVNTPKP DERAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENERLMEEYERLASELLEWIRRT IPWLENRTPEKTMQAMQKKLEDFRDYRRKHKPPKVQEKCQLEINFNTLQTKLRISNRPAF MPSEGKMVSDIAGAWQRLEQAEKGYEEWLLNEIRRLERLEHLAEKFRQKASTHETWAYGK EQILLQKDYESASLTEVRALLRKHEAFESDLAAHQDRVEQIAAIAQELNELDYHDAVNVN DRCQKICDQWDRLGTLTQKRREALERMEKLLETIDQLHLEFAKRAAPFNNWMEGAMEDLQ DMFIVHSIEEIQSLITAHEQFKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYS TVTMDELRTKWDKVKQLVPIRDQSLQEELARQHANERLRRQFAAQANAIGPWIQNKMEEI ARSSIQITGALEDQMNQLKQYEHNIINYKNNIDKLEGDHQLIQEALVFDNKHTNYTMEHI RVGWELLLTTIARTINEVETQILTRDAKGITQEQMNEFRASFNHFDRRKNGLMDHEDFRA CLISMGYDLGEAEFARIMTLVDPNGQGTVTFQSFIDFMTRETADTDTAEQVIASFRILAS DKPYILAEELRRELPPDQAQYCIKRMPAYSGPGSVPGALDYAAFSSALYGESDL NT seq 2685 nt NT seq  +upstreamnt  +downstreamnt atgaaccagatagagcccggcgtgcagtacaactacgtgtacgacgaggatgagtacatg atccaggaggaggagtgggaccgcgacctgctcctggacccagcctgggagaagcagcag aggaagaccttcactgcctggtgtaactcccacctaaggaaagccggcacccagattgag aacatcgaggaagacttcaggaatggccttaagctcatgctgcttttggaagtcatctca ggggaaaggctgcccaaacctgaccggggaaaaatgcggttccacaaaattgctaatgtc aacaaagctttggattacatagccagcaaaggggtgaaactggtgtccattggcgctgaa gaaattgttgatggcaacgtgaaaatgaccctgggtatgatctggaccatcatccttcgc tttgctattcaggatatttcggttgaagaaacatctgccaaagaaggtctgctgctttgg tgtcagaggaaaactgctccttatagaaatgtgaacattcagaacttccatactagctgg aaagatggccttggactctgtgccctcatccaccgacaccggcctgacctcattgactac tcaaagcttaacaaggatgaccccataggaaatattaacctggccatggaaatcgctgag aagcacctggatattcctaaaatgttggatgctgaagacatcgtgaacacccctaaaccc gatgaaagagccatcatgacgtacgtctcttgcttctaccacgcttttgcgggcgcggag caggccgagacagcggctaacaggatatgtaaggttcttgctgtgaatcaagagaatgag aggctgatggaagaatatgagaggctagcgagtgagcttttggaatggattcgtcgcacg atcccctggctggagaaccggactcccgagaagaccatgcaagccatgcagaagaagctg gaggacttccgggattaccgccggaagcacaagccacccaaggtgcaggagaaatgccag ctggagatcaacttcaacacgctgcagaccaagctgcggatcagcaaccgtcctgccttc atgccctccgagggcaagatggtgtcggatattgctggtgcctggcagaggctggagcag gctgagaagggttacgaggagtggttgctcaatgagattcggagactggagcgcttggaa cacctggctgagaagttcaggcagaaggcctcaacgcacgagacttgggcttatggcaaa gagcagatcttgctgcagaaggattacgagtcggcgtcgctgacagaggtgcgggctctg ctgcggaagcacgaggcgttcgagagcgacctggcagcgcaccaggaccgcgtggagcag atcgcagccatcgcgcaggagctcaatgaactggactatcacgacgctgtgaatgtcaat gatcggtgccagaaaatttgtgaccagtgggaccgactgggaacgcttactcagaagagg agagaagccctagagagaatggagaaattgctagaaaccattgatcagcttcacctggag tttgccaagagggctgctcctttcaacaattggatggagggcgctatggaggatctgcaa gatatgttcattgtccacagcattgaggagatccagagtctgatcactgcgcatgagcag ttcaaggccacgctgcccgaggcggacggagagcggcagtccatcatggccatccagaac gaggtggagaaggtgattcagagctacaacatcagaatcagctcaagcaacccgtacagc actgtcaccatggatgagctccggaccaagtgggacaaggtgaagcaactcgtgcccatc cgcgatcaatccctgcaggaggagctggctcgccagcatgctaacgagcgtctgaggcgc cagtttgctgcccaagccaatgccattgggccctggatccagaacaagatggaggagatt gcccggagctccatccagatcacaggagccctggaagaccagatgaaccagctgaagcag tatgagcacaacatcatcaactataagaacaacatcgacaagctggagggagaccatcag ctcatccaggaggcccttgtctttgacaacaagcacacgaactacacgatggagcacatt cgtgttggatgggagctgctgctgacaaccatcgccagaaccatcaatgaggtggagact cagatcctgacgagagatgcgaagggcatcacccaggagcagatgaatgagttcagagcc tccttcaaccactttgacaggaggaagaatggcctgatggatcatgaggatttcagagcc tgcctgatttccatgggttatgacctgggtgaagccgaatttgcccgcattatgaccctg gtagatcccaacgggcaaggcaccgtcaccttccaatccttcatcgacttcatgactaga gagacggctgacaccgacactgccgagcaggtcatcgcctccttccggatcctggcttct gataagccatacatcctggcggaggagctgcgtcgggagctgcccccggatcaggcccag tactgcatcaagaggatgcccgcctactcgggcccaggcagtgtgcctggtgcactggat tacgctgcgttctcttccgcactctacggggagagcgatctgtga

Homo sapiens (human): 89 Help Entry 89                CDS       T01001                                  Symbol ACTN3, ACTN3D Name (RefSeq) actinin alpha 3   KO K21073   actinin alpha 2/3 Organism hsa  Homo sapiens (human) Pathway hsa04820   Cytoskeleton in muscle cells hsa05412   Arrhythmogenic right ventricular cardiomyopathy Network nt06539  Cytoskeleton in muscle cells   Element N01815   Vinculin-talin-integrin macromolecular complex N01820   Sarcomere, Z-disc Brite KEGG Orthology (KO) [BR:hsa00001]  09140 Cellular Processes   09142 Cell motility    04820 Cytoskeleton in muscle cells     89 (ACTN3)  09160 Human Diseases   09166 Cardiovascular disease    05412 Arrhythmogenic right ventricular cardiomyopathy     89 (ACTN3)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    04131 Membrane trafficking [BR:hsa04131]     89 (ACTN3)   09183 Protein families: signaling and cellular processes    04812 Cytoskeleton proteins [BR:hsa04812]     89 (ACTN3)    04147 Exosome [BR:hsa04147]     89 (ACTN3) Membrane trafficking [BR:hsa04131]  Exocytosis   Small GTPases and associated proteins    Rab associated proteins     89 (ACTN3) Cytoskeleton proteins [BR:hsa04812]  Eukaryotic cytoskeleton proteins   Actin filaments / Microfilaments    Actin-binding proteins     Cross-linking proteins      89 (ACTN3) Exosome [BR:hsa04147]  Exosomal proteins   Exosomal proteins of other body fluids (saliva and urine)    89 (ACTN3)   Exosomal proteins of colorectal cancer cells    89 (ACTN3)   Exosomal proteins of bladder cancer cells    89 (ACTN3) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Spectrin CH EFhand_Ca_insen EF-hand_7 EF-hand_1 EF-hand_6 CAMSAP_CH EF-hand_8 AIF-1 PRP9_N Motif Other DBs NCBI-GeneID:  89 NCBI-ProteinID:  NP_001095 OMIM:  102574 HGNC:  165 Ensembl:  ENSG00000248746 UniProt:  Q08043 B4DZQ2 Structure PDB LinkDB All DBs Position 11:66546395..66563334 Genome browser AA seq 901 aa AA seqDB search MMMVMQPEGLGAGEGRFAGGGGGGEYMEQEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLR KAGTQIENIEEDFRNGLKLMLLLEVISGERLPRPDKGKMRFHKIANVNKALDFIASKGVK LVSIGAEEIVDGNLKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNV QNFHTSWKDGLALCALIHRHRPDLIDYAKLRKDDPIGNLNTAFEVAEKYLDIPKMLDAED IVNTPKPDEKAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENEKLMEEYEKLASEL LEWIRRTVPWLENRVGEPSMSAMQRKLEDFRDYRRLHKPPRIQEKCQLEINFNTLQTKLR LSHRPAFMPSEGKLVSDIANAWRGLEQVEKGYEDWLLSEIRRLQRLQHLAEKFRQKASLH EAWTRGKEEMLSQRDYDSALLQEVRALLRRHEAFESDLAAHQDRVEHIAALAQELNELDY HEAASVNSRCQAICDQWDNLGTLTQKRRDALERMEKLLETIDRLQLEFARRAAPFNNWLD GAVEDLQDVWLVHSVEETQSLLTAHDQFKATLPEADRERGAIMGIQGEIQKICQTYGLRP CSTNPYITLSPQDINTKWDMVRKLVPSCDQTLQEELARQQVNERLRRQFAAQANAIGPWI QAKVEEVGRLAAGLAGSLEEQMAGLRQQEQNIINYKTNIDRLEGDHQLLQESLVFDNKHT VYSMEHIRVGWEQLLTSIARTINEVENQVLTRDAKGLSQEQLNEFRASFNHFDRKQNGMM EPDDFRACLISMGYDLGEVEFARIMTMVDPNAAGVVTFQAFIDFMTRETAETDTTEQVVA SFKILAGDKNYITPEELRRELPAKQAEYCIRRMVPYKGSGAPAGALDYVAFSSALYGESD L NT seq 2706 nt NT seq  +upstreamnt  +downstreamnt atgatgatggttatgcagcccgagggtctgggggccggggaggggcgctttgcgggcggc ggcgggggcggcgagtacatggaacaggaggaggactgggaccgcgacctgctgctggac ccggcctgggagaagcagcagcggaaaaccttcactgcctggtgcaactcacacctgcgc aaggcaggcacccagatcgagaacatcgaggaagatttccgcaatggcctcaaactcatg ctgctcctggaggtcatttcaggtgagaggctgcctaggccagataaaggcaagatgcgc ttccacaaaatcgccaacgttaacaaggccctggacttcattgccagcaagggggttaaa ctggtgtccattggtgctgaagagattgttgacgggaacctgaagatgaccctgggcatg atctggaccatcatccttcgcttcgccatccaggacatctctgtggaagaaacctcagcc aaggaaggcttgcttctgtggtgccagaggaagacagcaccgtaccgcaacgtcaacgtg cagaacttccacaccagctggaaggatggcctggccctctgtgccctcatccaccgacac cgccctgacctcatcgactacgccaaactgcgaaaggatgaccccatcggaaacctgaac actgcctttgaggtggcagagaaatacctggacatccccaagatgttggatgcagaagac attgtgaacaccccaaagccggatgagaaggccatcatgacctatgtgtcctgcttctac catgcctttgccggggctgagcaggcagagacagctgccaacaggatctgcaaggtgctg gcagtgaaccaggaaaacgagaagctgatggaggagtatgagaagcttgccagtgagctg ctggagtggatccgccgcactgtcccatggctggagaaccgtgtgggtgagcccagcatg agtgccatgcagcgcaaactagaggactttcgggactaccggcgtctgcacaagccgccc cgcattcaggaaaagtgccagctggagatcaacttcaacacactgcagaccaagttgcgg ctcagccaccggcctgccttcatgccctccgagggcaagctggtctcggacatcgccaac gcctggcgggggctggagcaggtggaaaagggctatgaggactggctgctctcggagatc cggcgcctgcagcgactccagcacctggctgagaagttccggcagaaggcctccctgcac gaagcctggacccggggaaaggaggagatgctgagccagcgcgactacgattcggctttg ctacaggaggtgcgggcgttgctgcggcgccacgaggcctttgagagcgacctggcggcg caccaggaccgcgtggagcacattgccgcgctggcccaggagctcaatgagctggactac cacgaggcagcctcagtgaatagccgctgccaggccatctgcgatcagtgggacaacctg ggcaccctgacccagaagaggcgggatgcgctagagcggatggagaagctcctggagacc attgaccggctgcaactggagtttgcccggcgggccgcgcccttcaacaactggctggat ggtgccgtggaggacctgcaggacgtgtggctggtacactctgtggaggagacccagagc ctgctgacagcgcacgatcagttcaaggcaacactgcccgaggctgaccgagagcgaggt gccatcatgggcatccagggtgagatccagaagatctgccagacgtatgggctgcggccc tgctccaccaatccctacatcaccctcagcccgcaggacatcaacaccaagtgggatatg gtccgaaagctggtgcccagctgtgaccagacactgcaggaggagctggcacggcagcag gtaaacgagaggctccggcgacagtttgcggcccaggccaatgccattggaccctggatc caggcgaaggtggaggaagtggggcggctggcagcagggctagctggctctctggaggag cagatggctgggctacggcagcaggagcagaacattatcaactacaagactaacattgac cggctggagggtgaccaccagctgctgcaggagagcctggtgttcgacaataagcacacc gtctacagcatggagcacatccgcgtgggctgggagcagctgctcacctccattgcccgc accatcaatgaagtggagaaccaggtactgacccgagacgccaagggactgagccaggag cagctcaacgagttccgagcatccttcaaccactttgacaggaagcagaatgggatgatg gagcctgatgacttccgagcttgcctcatctccatgggctatgacctgggggaagtggag tttgctcgcatcatgaccatggtggaccccaacgcagctggggtggtgaccttccaggcc ttcatagacttcatgacccgagagacagccgagactgacacgactgagcaagttgtagct tccttcaagatcttggcaggagacaagaactacatcacccccgaggagctgcggcgcgag ctccctgccaagcaggccgagtactgcatccgccgtatggtgccctacaagggatccggg gccccggctggagccctggactacgtggccttctccagtgccctctatggggagagcgac ctttga

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