Homo sapiens (human): 4741 Help Entry 4741              CDS       T01001                                  Symbol NEFM, NEF3, NF-M, NFM Name (RefSeq) neurofilament medium chain   KO K04573   neurofilament medium polypeptide (neurofilament 3) Organism hsa  Homo sapiens (human) Pathway hsa05014   Amyotrophic lateral sclerosis hsa05022   Pathways of neurodegeneration - multiple diseases Network nt06541  Cytoskeleton in neurons   Element N01853   Neurofilament structure N01855   Neurofilament regulation, ubiqutination by Gigaxonin Brite KEGG Orthology (KO) [BR:hsa00001]  09160 Human Diseases   09164 Neurodegenerative disease    05014 Amyotrophic lateral sclerosis     4741 (NEFM)    05022 Pathways of neurodegeneration - multiple diseases     4741 (NEFM)  09180 Brite Hierarchies   09183 Protein families: signaling and cellular processes    04812 Cytoskeleton proteins [BR:hsa04812]     4741 (NEFM) Cytoskeleton proteins [BR:hsa04812]  Eukaryotic cytoskeleton proteins   Intermediate filaments    Intermediate filaments     Type IV      4741 (NEFM) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Filament Filament_head ATG14 DUF1664 Motif Other DBs NCBI-GeneID:  4741 NCBI-ProteinID:  NP_005373 OMIM:  162250 HGNC:  7734 Ensembl:  ENSG00000104722 UniProt:  P07197 LinkDB All DBs Position 8:24913761..24919093 Genome browser AA seq 916 aa AA seqDB search MSYTLDSLGNPSAYRRVTETRSSFSRVSGSPSSGFRSQSWSRGSPSTVSSSYKRSMLAPR LAYSSAMLSSAESSLDFSQSSSLLNGGSGPGGDYKLSRSNEKEQLQGLNDRFAGYIEKVH YLEQQNKEIEAEIQALRQKQASHAQLGDAYDQEIRELRATLEMVNHEKAQVQLDSDHLEE DIHRLKERFEEEARLRDDTEAAIRALRKDIEEASLVKVELDKKVQSLQDEVAFLRSNHEE EVADLLAQIQASHITVERKDYLKTDISTALKEIRSQLESHSDQNMHQAEEWFKCRYAKLT EAAEQNKEAIRSAKEEIAEYRRQLQSKSIELESVRGTKESLERQLSDIEERHNHDLSSYQ DTIQQLENELRGTKWEMARHLREYQDLLNVKMALDIEIAAYRKLLEGEETRFSTFAGSIT GPLYTHRPPITISSKIQKPKVEAPKLKVQHKFVEEIIEETKVEDEKSEMEEALTAITEEL AVSMKEEKKEAAEEKEEEPEAEEEEVAAKKSPVKATAPEVKEEEGEKEEEEGQEEEEEED EGAKSDQAEEGGSEKEGSSEKEEGEQEEGETEAEAEGEEAEAKEEKKVEEKSEEVATKEE LVADAKVEKPEKAKSPVPKSPVEEKGKSPVPKSPVEEKGKSPVPKSPVEEKGKSPVPKSP VEEKGKSPVSKSPVEEKAKSPVPKSPVEEAKSKAEVGKGEQKEEEEKEVKEAPKEEKVEK KEEKPKDVPEKKKAESPVKEEAVAEVVTITKSVKVHLEKETKEEGKPLQQEKEKEKAGGE GGSEEEGSDKGAKGSRKEDIAVNGEVEGKEEVEQETKEKGSGREEEKGVVTNGLDLSPAD EKKGGDKSEEKVVVTKTVEKITSEGGDGATKYITKSVTVTQKVEEHEETFEEKLVSTKKV EKVTSHAIVKEVTQSD NT seq 2751 nt NT seq  +upstreamnt  +downstreamnt atgagctacacgttggactcgctgggcaacccgtccgcctaccggcgggtaaccgagacc cgctcgagcttcagccgcgtcagcggctccccgtccagtggcttccgctcgcagtcgtgg tcccgcggctcgcccagcaccgtgtcctcctcctataagcgcagcatgctcgccccgcgc ctcgcttacagctcggccatgctcagctccgccgagagcagccttgacttcagccagtcc tcgtccctgctcaacggcggctccggacccggcggcgactacaagctgtcccgctccaac gagaaggagcagctgcaggggctgaacgaccgctttgccggctacatagagaaggtgcac tacctggagcagcagaataaggagattgaggcggagatccaggcgctgcggcagaagcag gcctcgcacgcccagctgggcgacgcgtacgaccaggagatccgcgagctgcgcgccacc ctggagatggtgaaccacgagaaggctcaggtgcagctggactcggaccacctggaggaa gacatccaccggctcaaggagcgctttgaggaggaggcgcggttgcgcgacgacactgag gcggccatccgcgcgctgcgcaaagacatcgaggaggcgtcgctggtcaaggtggagctg gacaagaaggtgcagtcgctgcaggatgaggtggccttcctgcggagcaaccacgaggag gaggtggccgaccttctggcccagatccaggcatcgcacatcacggtggagcgcaaagac tacctgaagacagacatctcgacggcgctgaaggaaatccgctcccagctcgaaagccac tcagaccagaatatgcaccaggccgaagagtggttcaaatgccgctacgccaagctcacc gaggcggccgagcagaacaaggaggccatccgctccgccaaggaagagatcgccgagtac cggcgccagctgcagtccaagagcatcgagctagagtcggtgcgcggcaccaaggagtcc ctggagcggcagctcagcgacatcgaggagcgccacaaccacgacctcagcagctaccag gacaccatccagcagctggaaaatgagcttcggggcacaaagtgggaaatggctcgtcat ttgcgcgaataccaggacctcctcaacgtcaagatggctctggatatagaaatcgctgcg tacagaaaactcctggagggtgaagagactagatttagcacatttgcaggaagcatcact gggccactgtatacacaccgacccccaatcacaatatccagtaagattcagaaacccaag gtggaagctcccaagcttaaggtccaacacaaatttgtcgaggagatcatagaggaaacc aaagtggaggatgagaagtcagaaatggaagaggccctgacagccattacagaggaattg gccgtttccatgaaggaagagaagaaagaagcagcagaagaaaaggaagaggaacccgaa gctgaagaagaagaagtagctgccaaaaagtctccagtgaaagcaactgcacctgaagtt aaagaagaggaaggggaaaaggaggaagaagaaggccaggaagaagaggaggaagaagat gagggagctaagtcagaccaagccgaagagggaggatccgagaaggaaggctctagtgaa aaagaggaaggtgagcaggaagaaggagaaacagaagctgaagctgaaggagaggaagcc gaagctaaagaggaaaagaaagtggaggaaaagagtgaggaagtggctaccaaggaggag ctggtggcagatgccaaggtggaaaagccagaaaaagccaagtctcctgtgccaaaatca ccagtggaagagaaaggcaagtctcctgtgcccaagtcaccagtggaagagaaaggcaag tctcctgtgcccaagtcaccagtggaagagaaaggcaagtctcctgtgccgaaatcacca gtggaagagaaaggcaagtctcctgtgtcaaaatcaccagtggaagagaaagccaaatct cctgtgccaaaatcaccagtggaagaggcaaagtcaaaagcagaagtggggaaaggtgaa cagaaagaggaagaagaaaaggaagtcaaggaagctcccaaggaagagaaggtagagaaa aaggaagagaaaccaaaggatgtgccagagaagaagaaagctgagtcccctgtaaaggag gaagctgtggcagaggtggtcaccatcaccaaatcggtaaaggtgcacttggagaaagag accaaagaagaggggaagccactgcagcaggagaaagagaaggagaaagcgggaggagag ggaggaagtgaggaggaagggagtgataaaggtgccaagggatccaggaaggaagacata gctgtcaatggggaggtagaaggaaaagaggaggtagagcaggagaccaaggaaaaaggc agtgggagggaagaggagaaaggcgttgtcaccaatggcctagacttgagcccagcagat gaaaagaaggggggtgataaaagtgaggagaaagtggtggtgaccaaaacggtagaaaaa atcaccagtgaggggggagatggtgctaccaaatacatcactaaatctgtaaccgtcact caaaaggttgaagagcatgaagagacctttgaggagaaactagtgtctactaaaaaggta gaaaaagtcacttcacacgccatagtaaaggaagtcacccagagtgactaa

Homo sapiens (human): 4744 Help Entry 4744              CDS       T01001                                  Symbol NEFH, CMT2CC, NFH Name (RefSeq) neurofilament heavy chain   KO K04574   neurofilament heavy polypeptide Organism hsa  Homo sapiens (human) Pathway hsa05014   Amyotrophic lateral sclerosis hsa05022   Pathways of neurodegeneration - multiple diseases Network nt06541  Cytoskeleton in neurons   Element N01853   Neurofilament structure N01855   Neurofilament regulation, ubiqutination by Gigaxonin Disease H00058   Amyotrophic lateral sclerosis (ALS) H00264   Charcot-Marie-Tooth disease Brite KEGG Orthology (KO) [BR:hsa00001]  09160 Human Diseases   09164 Neurodegenerative disease    05014 Amyotrophic lateral sclerosis     4744 (NEFH)    05022 Pathways of neurodegeneration - multiple diseases     4744 (NEFH)  09180 Brite Hierarchies   09183 Protein families: signaling and cellular processes    04812 Cytoskeleton proteins [BR:hsa04812]     4744 (NEFH) Cytoskeleton proteins [BR:hsa04812]  Eukaryotic cytoskeleton proteins   Intermediate filaments    Intermediate filaments     Type IV      4744 (NEFH) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Filament DUF1388 RasGAP_C Motif Other DBs NCBI-GeneID:  4744 NCBI-ProteinID:  NP_066554 OMIM:  162230 HGNC:  7737 Ensembl:  ENSG00000100285 UniProt:  P12036 LinkDB All DBs Position 22:29480218..29491390 Genome browser AA seq 1020 aa AA seqDB search MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSA SPSRFRGAGAASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEA HNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAH VRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGE LLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRL SEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASY QEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPF SLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKE EEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKS PAEVKSPEKAKSPAKEEAKSPPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKS PEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKSPTKEEAKSPEKAKSPEKEEA KSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKSPE KAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSPEAKTPAKEEARSPADK FPEKAKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVKVKEPPK KAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKKEEAEDK KKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEKKDTKEE KAKKPEEKPKTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATEDKAAKGK NT seq 3063 nt NT seq  +upstreamnt  +downstreamnt atgatgagcttcggcggcgcggacgcgctgctgggcgccccgttcgcgccgctgcatggc ggcggcagcctccactacgcgctagcccgaaagggtggcgcaggcgggacgcgctccgcc gctggctcctccagcggcttccactcgtggacacggacgtccgtgagctccgtgtccgcc tcgcccagccgcttccgtggcgcaggcgccgcctcaagcaccgactcgctggacacgctg agcaacgggccggagggctgcatggtggcggtggccacctcacgcagtgagaaggagcag ctgcaggcgctgaacgaccgcttcgccgggtacatcgacaaggtgcggcagctggaggcg cacaaccgcagcctggagggcgaggctgcggcgctgcggcagcagcaggcgggccgctcc gctatgggcgagctgtacgagcgcgaggtccgcgagatgcgcggcgcggtgctgcgcctg ggcgcggcgcgcggtcagctacgcctggagcaggagcacctgctcgaggacatcgcgcac gtgcgccagcgcctagacgacgaggcccggcagcgagaggaggccgaggcggcggcccgc gcgctggcgcgcttcgcgcaggaggccgaggcggcgcgcgtggacctgcagaagaaggcg caggcgctgcaggaggagtgcggctacctgcggcgccaccaccaggaagaggtgggcgag ctgctcggccagatccagggctccggcgccgcgcaggcgcagatgcaggccgagacgcgc gacgccctgaagtgcgacgtgacgtcggcgctgcgcgagattcgcgcgcagcttgaaggc cacgcggtgcagagcacgctgcagtccgaggagtggttccgagtgaggctggaccgactg tcggaggcagccaaggtgaacacagacgctatgcgctcagcgcaggaggagataactgag taccggcgtcagctgcaggccaggaccacagagctggaggcactgaaaagcaccaaggac tcactggagaggcagcgctctgagctggaggaccgtcatcaggccgacattgcctcctac caggaagccattcagcagctggacgctgagctgaggaacaccaagtgggagatggccgcc cagctgcgagaataccaggacctgctcaatgtcaagatggctctggatatagagatagcc gcttacagaaaactcctggaaggtgaagagtgtcggattggctttggcccaattcctttc tcgcttccagaaggactccccaaaattccctctgtgtccactcacataaaggtgaaaagc gaagagaagatcaaagtggtggagaagtctgagaaagaaactgtgattgtggaggaacag acagaggagacccaagtgactgaagaagtgactgaagaagaggagaaagaggccaaagag gaggagggcaaggaggaagaagggggtgaagaagaggaggcagaagggggagaagaagaa acaaagtctcccccagcagaagaggctgcatccccagagaaggaagccaagtcaccagta aaggaagaggcaaagtcaccggctgaggccaagtccccagagaaggaggaagcaaaatcc ccagccgaagtcaagtcccctgagaaggccaagtctccagcaaaggaagaggcaaagtca ccgcctgaggccaagtccccagagaaggaggaagcaaaatctccagctgaggtcaagtcc cccgagaaggccaagtccccagcaaaggaagaggcaaagtcaccggctgaggccaagtct ccagagaaggccaagtccccagtgaaggaagaagcaaagtcaccggctgaggccaagtcc ccagtgaaggaagaagcaaaatctccagctgaggtcaagtccccggaaaaggccaagtct ccaacgaaggaggaagcaaagtcccctgagaaggccaagtccccagagaaggaagaggcc aagtcccctgagaaggccaagtccccagtgaaggcagaagcaaagtcccctgagaaggcc aagtccccagtgaaggcagaagcaaagtcccctgagaaggccaagtccccagtgaaggaa gaagcaaagtcccctgagaaggccaagtccccagtgaaggaagaagcaaagtcccctgag aaggccaagtccccagtgaaggaagaagcaaagacccccgagaaggccaagtccccagtg aaggaagaagctaagtccccagagaaggccaagtccccagagaaggccaagactcttgat gtgaagtctccagaagccaagactccagcgaaggaggaagcaaggtcccctgcagacaaa ttccctgaaaaggccaaaagccctgtcaaggaggaggtcaagtccccagagaaggcgaaa tctcccctgaaggaggatgccaaggcccctgagaaggagatcccaaaaaaggaagaggtg aagtccccagtgaaggaggaggagaagccccaggaggtgaaagtcaaagagcccccaaag aaggcagaggaagagaaagcccctgccacaccaaaaacagaggagaagaaggacagcaag aaagaggaggcacccaagaaggaggctccaaagcccaaggtggaggagaagaaggaacct gctgtcgaaaagcccaaagaatccaaagttgaagccaagaaggaagaggctgaagataag aaaaaagtccccaccccagagaaggaggctcctgccaaggtggaggtgaaggaagacgct aaacccaaagaaaagacagaggtagccaagaaggaaccagatgatgccaaggccaaggaa cccagcaaaccagcagagaagaaggaggcagcaccggagaaaaaagacaccaaggaggag aaggccaagaagcctgaggagaaacccaagacagaggccaaagccaaggaagatgacaag accctctcaaaagagcctagcaagcctaaggcagaaaaggctgaaaaatcctccagcaca gaccaaaaagacagcaagcctccagagaaggccacagaagacaaggccgccaaggggaag taa

DBGET integrated database retrieval system