KEGG   Homo sapiens (human): 4741
Entry
4741              CDS       T01001                                 

Gene name
NEFM, NEF3, NF-M, NFM
Definition
(RefSeq) neurofilament medium
  KO
K04573  neurofilament medium polypeptide (neurofilament 3)
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
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)
SSDB
Motif
Pfam: Filament Filament_head DUF1664
Other DBs
NCBI-GeneID: 4741
NCBI-ProteinID: NP_005373
OMIM: 162250
HGNC: 7734
Ensembl: ENSG00000104722
Vega: OTTHUMG00000131990
Pharos: P07197(Tbio)
UniProt: P07197
Position
8p21.2
AA seq 916 aa
MSYTLDSLGNPSAYRRVTETRSSFSRVSGSPSSGFRSQSWSRGSPSTVSSSYKRSMLAPR
LAYSSAMLSSAESSLDFSQSSSLLNGGSGPGGDYKLSRSNEKEQLQGLNDRFAGYIEKVH
YLEQQNKEIEAEIQALRQKQASHAQLGDAYDQEIRELRATLEMVNHEKAQVQLDSDHLEE
DIHRLKERFEEEARLRDDTEAAIRALRKDIEEASLVKVELDKKVQSLQDEVAFLRSNHEE
EVADLLAQIQASHITVERKDYLKTDISTALKEIRSQLESHSDQNMHQAEEWFKCRYAKLT
EAAEQNKEAIRSAKEEIAEYRRQLQSKSIELESVRGTKESLERQLSDIEERHNHDLSSYQ
DTIQQLENELRGTKWEMARHLREYQDLLNVKMALDIEIAAYRKLLEGEETRFSTFAGSIT
GPLYTHRPPITISSKIQKPKVEAPKLKVQHKFVEEIIEETKVEDEKSEMEEALTAITEEL
AVSMKEEKKEAAEEKEEEPEAEEEEVAAKKSPVKATAPEVKEEEGEKEEEEGQEEEEEED
EGAKSDQAEEGGSEKEGSSEKEEGEQEEGETEAEAEGEEAEAKEEKKVEEKSEEVATKEE
LVADAKVEKPEKAKSPVPKSPVEEKGKSPVPKSPVEEKGKSPVPKSPVEEKGKSPVPKSP
VEEKGKSPVSKSPVEEKAKSPVPKSPVEEAKSKAEVGKGEQKEEEEKEVKEAPKEEKVEK
KEEKPKDVPEKKKAESPVKEEAVAEVVTITKSVKVHLEKETKEEGKPLQQEKEKEKAGGE
GGSEEEGSDKGAKGSRKEDIAVNGEVEGKEEVEQETKEKGSGREEEKGVVTNGLDLSPAD
EKKGGDKSEEKVVVTKTVEKITSEGGDGATKYITKSVTVTQKVEEHEETFEEKLVSTKKV
EKVTSHAIVKEVTQSD
NT seq 2751 nt   +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

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