KEGG   Homo sapiens (human): 4747
Entry
4747              CDS       T01001                                 
Symbol
NEFL, CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL, PPP1R110
Name
(RefSeq) neurofilament light chain
  KO
K04572  neurofilament light 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
N01854  Neurofilament regulation, ubiqutination by TRIM2
N01855  Neurofilament regulation, ubiqutination by Gigaxonin
Disease
H00264  Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    4747 (NEFL)
   05022 Pathways of neurodegeneration - multiple diseases
    4747 (NEFL)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    4747 (NEFL)
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    4747 (NEFL)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein serine/threonine phosphatases
  Phosphoprotein phosphatases (PPPs)
   Protein phosphatase-1
    PP1-interacting proteins (PIPs)
     4747 (NEFL)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filaments
    Type IV
     4747 (NEFL)
SSDB
Motif
Pfam: Filament Filament_head DUF1664 TPR_MLP1_2 ANG-1 T2SSM_b
Other DBs
NCBI-GeneID: 4747
NCBI-ProteinID: NP_006149
OMIM: 162280
HGNC: 7739
Ensembl: ENSG00000277586
UniProt: P07196
LinkDB
Position
8:complement(24950955..24956612)
AA seq 543 aa
MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSS
SGSLMPSLENLDLSQVAAISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEA
ELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQALQGEREGLEETLRNLQARYEE
EVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY
AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRA
AKDEVSESRRLLKAKTLEIEACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRT
TKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSSQVFG
RSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE
KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAK
KKD
NT seq 1632 nt   +upstreamnt  +downstreamnt
atgagttccttcagctacgagccgtactactcgacctcctacaagcggcgctacgtggag
acgccccgggtgcacatctccagcgtgcgcagcggctacagcaccgcacgctcagcttac
tccagctactcggcgccggtgtcttcctcgctgtccgtgcgccgcagctactcctccagc
tctggatcgttgatgcccagtctggagaacctcgacctgagccaggtagccgccatcagc
aacgacctcaagtccatccgcacgcaggagaaggcgcagctccaggacctcaatgaccgc
ttcgccagcttcatcgagcgcgtgcacgagctggagcagcagaacaaggtcctggaagcc
gagctgctggtgctgcgccagaagcactccgagccatcccgcttccgggcgctgtacgag
caggagatccgcgacctgcgcctggcggcggaagatgccaccaacgagaagcaggcgctc
cagggcgagcgcgaagggctggaggagaccctgcgcaacctgcaggcgcgctatgaagag
gaggtgctgagccgcgaggacgccgagggccggctgatggaagcgcgcaaaggcgccgac
gaggcggcgctcgctcgcgccgagctcgagaagcgcatcgacagcttgatggacgaaatc
tcttttctgaagaaagtgcacgaagaggagatcgccgaactgcaggcgcagatccagtac
gcgcagatctccgtggagatggacgtgaccaagcccgacctttccgccgcgctcaaggac
atccgcgcgcagtacgagaagctggccgccaagaacatgcagaacgctgaggaatggttc
aagagccgcttcaccgtgctgaccgagagcgccgccaagaacaccgacgccgtgcgcgcc
gccaaggacgaggtgtccgagagccgtcgtctgctcaaggccaagaccctggaaatcgaa
gcatgccggggcatgaatgaagcgctggagaagcagctgcaggagctggaggacaagcag
aacgccgacatcagcgctatgcaggacacgatcaacaaattagaaaatgaattgaggacc
acaaagagtgaaatggcacgatacctaaaagaataccaagacctcctcaacgtgaagatg
gctttggatattgagattgcagcttacaggaaactcttggaaggcgaggagacccgactc
agtttcaccagcgtgggaagcataaccagtggctactcccagagctcccaggtctttggc
cgatctgcctacggcggtttacagaccagctcctatctgatgtccacccgctccttcccg
tcctactacaccagccatgtccaagaggagcagatcgaagtggaggaaaccattgaggct
gccaaggctgaggaagccaaggatgagcccccctctgaaggagaagccgaggaggaggag
aaggacaaggaagaggccgaggaagaggaggcagctgaagaggaagaagctgccaaggaa
gagtctgaagaagcaaaagaagaagaagaaggaggtgaaggtgaagaaggagaggaaacc
aaagaagctgaagaggaggagaagaaagttgaaggtgctggggaggaacaagcagctaag
aagaaagattga

KEGG   Homo sapiens (human): 5630
Entry
5630              CDS       T01001                                 
Symbol
PRPH, NEF4, PRPH1
Name
(RefSeq) peripherin
  KO
K07607  peripherin
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
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    5630 (PRPH)
   05022 Pathways of neurodegeneration - multiple diseases
    5630 (PRPH)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    5630 (PRPH)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filaments
    Type III
     5630 (PRPH)
SSDB
Motif
Pfam: Filament Filament_head BLOC1_2 Spc29 Laminin_II DUF3944
Other DBs
NCBI-GeneID: 5630
NCBI-ProteinID: NP_006253
OMIM: 170710
HGNC: 9461
Ensembl: ENSG00000135406
UniProt: P41219 B3KWQ6
LinkDB
Position
12:49295147..49298686
AA seq 470 aa
MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSRLLGSASPSSSVRLGSF
RSPRAGAGALLRLPSERLDFSMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQ
QNAALRGELSQARGQEPARADQLCQQELRELRRELELLGRERDRVQVERDGLAEDLAALK
QRLEEETRKREDAEHNLVLFRKDVDDATLSRLELERKIESLMDEIEFLKKLHEEELRDLQ
VSVESQQVQQVEVEATVKPELTAALRDIRAQYESIAAKNLQEAEEWYKSKYADLSDAANR
NHEALRQAKQEMNESRRQIQSLTCEVDGLRGTNEALLRQLRELEEQFALEAGGYQAGAAR
LEEELRQLKEEMARHLREYQELLNVKMALDIEIATYRKLLEGEESRISVPVHSFASLNIK
TTVPEVEPPQDSHSRKTVLIKTIETRNGEVVTESQKEQRSELDKSSAHSY
NT seq 1413 nt   +upstreamnt  +downstreamnt
atgagccaccacccgtcgggcctccgggccggcttcagctccacctcataccgccgtacc
ttcggtccaccgccctcactatcccccggggccttctcctactcgtccagctcccgcttc
tccagcagccgcctgctgggctccgcgtccccgagctcctcggtgcgcctgggcagcttc
cgtagcccccgagcgggagcgggcgccctcctgcgcctgccctcggagcgcctcgacttc
tccatggccgaggccctcaaccaggagttcctggccacgcgcagcaacgagaagcaggag
ctgcaggagctcaacgaccgcttcgccaacttcatcgagaaggtacgctttctggagcag
cagaacgcggccctgcgcggggagctgagccaagcccggggccaggagccggcgcgcgcc
gaccagctgtgccagcaggagctgcgcgagctgcggcgagagctggagctgttgggccgc
gagcgtgaccgggtgcaggtggagcgcgacgggctggcggaggacctggcggcgctcaag
cagaggttggaggaggagacgcgcaagcgggaggacgcggagcacaacctcgtgctcttc
cgcaaggacgtggacgatgccactctgtcccgcctggaactagagcgcaagattgagtct
ctgatggatgagattgagttcctcaagaagctgcacgaggaggagctgcgagacctgcag
gtgagtgtggagagccagcaggtgcagcaggtggaggtggaagccacggtgaagcccgag
ctgacggcagcgctgagggacatccgcgcgcagtacgagagcatcgccgcgaagaacctg
caggaggcggaggagtggtacaagtccaagtacgcggacctgtccgacgctgccaaccgg
aaccacgaggccctgcgccaggccaagcaggagatgaacgagtcccgacgccagatccag
agtctaacgtgcgaggtggacgggctgcgcggcacgaacgaggcgctgctcaggcagttg
agagagctggaggagcagttcgccctggaggcggggggctaccaggcgggcgctgcgcgg
ctcgaggaggagctgcgacagctaaaagaggagatggcgcggcacctgagggagtaccag
gagctcctcaacgtcaagatggccctggacatcgagatcgccacctaccgcaagctgctg
gagggcgaggagagccggatctccgtgcccgtccattcttttgcctccttaaatataaag
acgactgtgcctgaggtggagcctccccaggacagccacagccggaagacggttctgatc
aagaccattgagacccggaatggggaggtggtgacagagtcccagaaggagcagcgcagt
gagctggacaagtcttctgcccacagttactga

KEGG   Homo sapiens (human): 5961
Entry
5961              CDS       T01001                                 
Symbol
PRPH2, AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, RDS, RP7, TSPAN22, rd2
Name
(RefSeq) peripherin 2
  KO
K17343  peripherin-2
Organism
hsa  Homo sapiens (human)
Network
nt06541  Cytoskeleton in neurons
  Element
N01853  Neurofilament structure
Disease
H00527  Retinitis pigmentosa
H00814  Vitelliform macular dystrophy
H00825  Familial flecked retina syndrome
H00837  Leber congenital amaurosis
H01768  Central areolar choroidal dystrophy
H01890  Pattern dystrophies of the retinal pigment epithelium
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    5961 (PRPH2)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   5961 (PRPH2)
SSDB
Motif
Pfam: Tetraspanin LtrA DUF7357 Mycobacteriophage_Gp53
Other DBs
NCBI-GeneID: 5961
NCBI-ProteinID: NP_000313
OMIM: 179605
HGNC: 9942
Ensembl: ENSG00000112619
UniProt: P23942
Structure
LinkDB
Position
6:complement(42696598..42722597)
AA seq 346 aa
MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFV
PNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCF
LLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWI
SNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQT
EELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESE
SESQGWLLERSVPETWKAFLESVKKLGKGNQVEAEGADAGQAPEAG
NT seq 1041 nt   +upstreamnt  +downstreamnt
atggcgctactgaaagtcaagtttgaccagaagaagcgggtcaagttggcccaagggctc
tggctcatgaactggttctccgtgttggctggcatcatcatcttcagcctaggactgttc
ctgaagattgaactccgaaagaggagcgatgtgatgaataattctgagagccattttgtg
cccaactcattgatagggatgggggtgctatcctgtgtcttcaactcgctggctgggaag
atctgctacgacgccctggacccagccaagtatgccagatggaagccctggctgaagccg
tacctggctatctgtgttctcttcaacatcatcctcttccttgtggctctctgctgcttt
ctgcttcggggctcgctggagaacaccctgggccaagggctcaagaacggcatgaagtac
taccgggacacagacacccctggcaggtgtttcatgaagaagaccatcgacatgctgcag
atcgagttcaaatgctgcggcaacaacggttttcgggactggtttgagattcagtggatc
agcaatcgctacctggacttttcctccaaagaagtcaaagatcgaatcaagagcaacgtg
gatgggcggtacctggtggacggcgtccctttcagctgctgcaatcctagctcgccacgg
ccctgcatccagtatcagatcaccaacaactcagcacactacagttacgaccaccagacg
gaggagctcaacctgtgggtgcgtggctgcagggctgccctgctgagctactacagcagc
ctcatgaactccatgggtgtcgtcacgctcctcatttggctcttcgaggtgaccattaca
attgggctgcgctacctacagacgtcgctggatggtgtgtccaaccccgaggaatctgag
agcgagagccagggctggctgctggagaggagcgtgccggagacctggaaggcctttctg
gagagtgtgaagaagctgggcaagggcaaccaggtggaagccgagggcgcagacgcaggc
caggccccagaggctggctga

KEGG   Homo sapiens (human): 9118
Entry
9118              CDS       T01001                                 
Symbol
INA, NEF5, NF-66, NF66, TXBP-1
Name
(RefSeq) internexin neuronal intermediate filament protein alpha
  KO
K07608  internexin neuronal intermediate filament protein, alpha
Organism
hsa  Homo sapiens (human)
Network
nt06541  Cytoskeleton in neurons
  Element
N01853  Neurofilament structure
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    9118 (INA)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filaments
    Type IV
     9118 (INA)
SSDB
Motif
Pfam: Filament Filament_head ANG-1 CCDC39 COLEC12 DUF1664 TolA_bind_tri
Other DBs
NCBI-GeneID: 9118
NCBI-ProteinID: NP_116116
OMIM: 605338
HGNC: 6057
Ensembl: ENSG00000148798
UniProt: Q16352
LinkDB
Position
10:103277138..103290346
AA seq 499 aa
MSFGSEHYLCSSSSYRKVFGDGSRLSARLSGAGGAGGFRSQSLSRSNVASSAACSSASSL
GLGLAYRRPPASDGLDLSQAAARTNEYKIIRTNEKEQLQGLNDRFAVFIEKVHQLETQNR
ALEAELAALRQRHAEPSRVGELFQRELRDLRAQLEEASSARSQALLERDGLAEEVQRLRA
RCEEESRGREGAERALKAQQRDVDGATLARLDLEKKVESLLDELAFVRQVHDEEVAELLA
TLQASSQAAAEVDVTVAKPDLTSALREIRAQYESLAAKNLQSAEEWYKSKFANLNEQAAR
STEAIRASREEIHEYRRQLQARTIEIEGLRGANESLERQILELEERHSAEVAGYQDSIGQ
LENDLRNTKSEMARHLREYQDLLNVKMALDIEIAAYRKLLEGEETRFSTSGLSISGLNPL
PNPSYLLPPRILSATTSKVSSTGLSLKKEEEEEEASKVASKKTSQIGESFEEILEETVIS
TKKTEKSNIEETTISSQKI
NT seq 1500 nt   +upstreamnt  +downstreamnt
atgagcttcggctcggagcactacctgtgctcctcctcctcctaccgcaaggtgttcggg
gatggctctcgcctgtccgcccgcctctctggggccggcggcgcgggcggcttccgctcg
cagtcgctgtcccgcagcaatgtggcctcctcggccgcctgctcctcggcctcgtcgctc
ggcctcggcctggcctatcgccggccgccggcgtccgacgggctggacctgagccaggcg
gcggcgcgcaccaacgagtacaagatcatccgcaccaacgagaaggagcagctgcagggc
ctcaacgaccgcttcgccgtgttcatcgagaaggtgcatcagctggagacgcagaaccgc
gcgttggaggccgagctggccgcgctgcgacagcgccacgctgagccgtcgcgcgtcggc
gagctcttccagcgcgagctgcgcgacctgcgcgcgcagctggaggaggccagctcggct
cgctcgcaggccctgctggagcgcgacgggctggcggaggaggtgcagcggctgcgggcg
cgctgcgaggaggagagccgcggacgcgaaggcgccgagcgcgccctgaaggcgcagcag
cgcgacgtggacggcgccacgctggcccgcctggacctggagaagaaggtggagtcgctg
ctggacgagctggccttcgtacgccaggtgcacgacgaggaggtagccgagctgctggcc
acgctgcaggcgtcgtcgcaggccgcggccgaggtggacgtgactgtggctaaaccagac
ctgacctcggctctgagggagatccgcgcccagtatgagtccctggccgctaagaacctg
cagtccgcggaagaatggtacaagtccaagtttgccaacctgaacgagcaggcggcgcgc
agcaccgaggccatccgggccagccgcgaggagatccacgagtatcggcgccagctgcag
gcgcgcaccatcgagatcgagggcctgcgcggggccaacgagtccttggagaggcagatc
ctggagctggaggagcggcacagtgccgaggtagctggctaccaggatagcattgggcag
ctggagaatgatctgaggaacaccaagagtgagatggcacgccaccttcgggaataccag
gacttgctcaatgtcaaaatggctcttgacattgagatagcagcttacaggaaactgctg
gaaggcgaggagacacgttttagcaccagtgggttaagcatttcggggctgaatccactt
cccaatccaagttacctgctcccacctagaatcctcagtgctacaacctccaaagtctca
tccactgggctatcacttaagaaagaggaggaggaggaggaggcatctaaggtagcctct
aagaaaacctcccagataggggaaagttttgaagaaatattagaggagacagtaatatct
actaagaaaaccgagaaatcaaatatagaagaaaccaccatttcaagccaaaaaatataa

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