KEGG   Homo sapiens (human): 547
Entry
547               CDS       T01001                                 
Symbol
KIF1A, ATSV, C2orf20, HSN2C, MRD9, NESCAVS, SPG30, UNC104
Name
(RefSeq) kinesin family member 1A
  KO
K10392  kinesin family member 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04814  Motor proteins
Disease
H00265  Hereditary sensory and autonomic neuropathy
H00266  Hereditary spastic paraplegia
H00773  Autosomal dominant intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04814 Motor proteins
    547 (KIF1A)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    547 (KIF1A)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Microtubules
   Tubulin-binding proteins
    Kinesins
     547 (KIF1A)
SSDB
Motif
Pfam: Kinesin Kinesin_assoc DUF3694 Microtub_bd KIF1B PH FHA Yop-YscD_cpl PH_11
Other DBs
NCBI-GeneID: 547
NCBI-ProteinID: NP_004312
OMIM: 601255
HGNC: 888
Ensembl: ENSG00000130294
UniProt: Q12756
Structure
Position
2:complement(240713767..240821403)
AA seq 1690 aa
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHT
SPEDINYASQKQVYRDIGEEMLQHAFEGYNVCIFAYGQTGAGKSYTMMGKQEKDQQGIIP
QLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVED
LSKLAVTSYNDIQDLMDSGNKARTVAATNMNETSSRSHAVFNIIFTQKRHDAETNITTEK
VSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEMDSGPNKNKKKKK
TDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVI
NEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDMTNALVGMSPSSSLSALSSRAASVSSL
HERILFAPGSEEAIERLKETEKIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDG
GTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVLSGHFIKEEH
CVFRSDSRGGSEAVVTLEPCEGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQA
RQERERTPCAETPAEPVDWAFAQRELLEKQGIDMKQEMEQRLQELEDQYRREREEATYLL
EQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWTERECELALWAFRKWKWYQFT
SLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPEAAKDRETRPF
PRTIVAVEVQDQKNGATHYWTLEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPF
YDRFPWFRLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVKGFLRVAVQAISADEEAPDYG
SGVRQSGTAKISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEV
NNNTCSAVPPEGLLLDSSEKAALDGPLDAALDHLRLGNTFTFRVTVLQASSISAEYADIF
CQFNFIHRHDEAFSTEPLKNTGRGPPLGFYHVQNIAVEVTKSFIEYIKSQPIVFEVFGHY
QQHPFPPLCKDVLSPLRPSRRHFPRVMPLSKPVPATKLSTLTRPCPGPCHCKYDLLVYFE
ICELEANGDYIPAVVDHRGGMPCMGTFLLHQGIQRRITVTLLHETGSHIRWKEVRELVVG
RIRNTPETDESLIDPNILSLNILSSGYIHPAQDDRTFYQFEAAWDSSMHNSLLLNRVTPY
REKIYMTLSAYIEMENCTQPAVVTKDFCMVFYSRDAKLPASRSIRNLFGSGSLRASESNR
VTGVYELSLCHVADAGSPGMQRRRRRVLDTSVAYVRGEENLAGWRPRSDSLILDHQWELE
KLSLLQEVEKTRHYLLLREKLETAQRPVPEALSPAFSEDSESHGSSSASSPLSAEGRPSP
LEAPNERQRELAVKCLRLLTHTFNREYTHSHVCVSASESKLSEMSVTLLRDPSMSPLGVA
TLTPSSTCPSLVEGRYGATDLRTPQPCSRPASPEPELLPEADSKKLPSPARATETDKEPQ
RLLVPDIQEIRVSPIVSKKGYLHFLEPHTSGWARRFVVVRRPYAYMYNSDKDTVERFVLN
LATAQVEYSEDQQAMLKTPNTFAVCTEHRGILLQAASDKDMHDWLYAFNPLLAGTIRSKL
SRRRSAQMRV
NT seq 5073 nt   +upstreamnt  +downstreamnt
atggccggggcttcggtgaaggtggcggtgcgggtccgccccttcaattcccgggaaatg
agccgtgactccaagtgcatcattcagatgtctggaagcaccaccaccattgttaacccc
aaacagcccaaggagacgcccaaaagcttcagctttgactactcctactggtcgcacacc
tcacctgaggacatcaactacgcgtcgcagaagcaggtgtaccgggacatcggcgaggag
atgctgcagcatgcctttgagggatacaacgtgtgcatcttcgcctatgggcagacgggt
gccggcaagtcctacaccatgatgggcaagcaggagaaggaccagcagggcatcatccca
cagctctgcgaggacctcttctctcggatcaacgacacgaccaacgacaacatgtcctac
tccgtggaggtcagctacatggagatttactgtgagcgcgtccgtgacctcctgaacccc
aagaacaagggcaaccttcgcgtgagggagcacccactgctggggccctacgtggaggac
ctctccaagctggctgtcacctcctacaatgacatccaggacctcatggactcagggaac
aaggccaggaccgtggcggccaccaacatgaatgagaccagcagtcgctcccacgccgtc
ttcaacatcatcttcacccagaagcgccatgacgcagagaccaatatcaccacggagaag
gtgagcaaaatcagcctggtggacctggctgggagcgagcgggctgactccacgggagcc
aagggcacgcgcctcaaggagggggccaacatcaacaagtcgctgaccaccctgggcaag
gtcatctccgccctggctgaaatggactccggacccaacaagaacaagaaaaagaagaag
acagatttcattccgtaccgagattccgtgttgacctggctcctccgggaaaacctgggc
ggtaactcaaggacagctatggtggcagccttgagtcctgcagacatcaactacgatgag
acccttagcacgctgaggtatgctgaccgggccaagcagatccgctgcaatgctgtcatc
aatgaggaccccaacaacaagctgatccgcgagctgaaggatgaggtgacccggctgcgg
gaccttctgtacgcccagggtcttggcgacatcactgacatgaccaatgccctggtgggt
atgagcccctcatcctcgctctcagccctgtccagccgcgcggcctccgtgtccagcctc
cacgagcgcatcttgtttgccccgggcagcgaggaggccattgaaagactgaaggaaaca
gagaagatcatagctgagctcaatgagacctgggaggagaagctgcggcggacagaagcc
atccggatggagagggaagccctgctggccgagatgggtgtggccatgagggaggatggc
ggcaccttgggcgtattctctcccaaaaagacaccacacctcgtcaacctgaacgaggac
ccgctgatgtctgagtgcctgctctactacatcaaggatgggatcaccagagtgggcagg
gaggatggcgagaggcggcaggacattgttctgagtgggcacttcatcaaggaggagcac
tgcgtcttccggagcgactccaggggaggcagcgaagctgtggtgaccttggagccctgt
gagggggcagacacctacgtcaatggcaagaaagtcacagagcccagcatcctgcgttca
ggaaaccgcatcatcatgggtaagagccatgtgttccggttcaaccaccccgagcaggcc
cggcaggagcgtgagcgcacgccttgtgcggagacgccagctgagcctgtggactgggcc
ttcgcccagcgtgagctgctggagaagcagggcatcgacatgaagcaggagatggagcag
aggctccaggaactggaggaccagtaccgccgcgagcgggaggaggccacctacctgctg
gagcagcagcggctggactatgagagcaagctggaggctctgcagaagcagatggactcc
aggtactacccggaggtgaacgaggaggaggaggagcccgaggatgaagtccagtggaca
gagcgggagtgtgagctggcgctctgggccttccggaagtggaagtggtaccagttcacg
tctctgcgggacctgctgtggggcaacgccatcttcctcaaggaggccaatgccatcagc
gtggagctgaaaaagaaggtacaattccagtttgtcctcctgacggacacactctactcc
cctctgccacccgacctgctgcccccagaggccgccaaagaccgagagacgcggcccttc
ccccgcaccattgtggccgtggaggtccaggaccagaagaacggggccacccactactgg
acgctggagaagctcaggcagcgtctggacctgatgcgggagatgtacgaccgcgctgca
gaggtgccctccagtgtcatcgaggactgtgacaacgtggtgaccggcggagaccccttc
tatgaccgcttcccctggttccggctggtgggcagggccttcgtgtacctgagcaacctg
ctgtaccccgttcccctggtacaccgtgtggcaatcgtcagcgagaagggcgaggtgaag
ggcttcctccgcgtggccgtccaggccatctcagccgatgaagaggcccctgattatggc
tctggcgtccgccagtcgggaactgctaaaatctcctttgatgaccagcattttgaaaag
ttccagtccgagtcttgccccgtggtggggatgtcccgctcgggaacctcccaggaagag
cttcgcatcgtggagggccagggccagggtgcagacgtggggccctcagccgatgaagtc
aacaacaacacctgttcagcagtgcccccagaaggcctcctcctagacagctctgagaaa
gccgccctggatgggcccctggatgctgccctggaccacctccgcctgggcaacaccttc
accttccgtgtgacagtcctgcaggcgtccagcatctctgccgaatatgccgacatcttc
tgccagttcaacttcatccaccgccacgacgaggccttctccacagagcccctgaagaac
acaggcagaggccccccacttggcttctaccacgtccagaacatcgcagtggaggtgacc
aagtccttcattgagtacatcaagagccagcccattgttttcgaggtctttggccactac
cagcagcacccgttcccgcccctctgcaaggacgtgctcagccccctgaggccctcgcgc
cgccacttccctcgggtcatgccactgtccaagccagtgcccgccaccaagctcagcaca
ctgacgcggccctgtccgggaccctgccactgcaagtacgacctgctggtctacttcgag
atctgtgagctggaggccaacggcgattacatcccggccgtggtggaccaccgtgggggc
atgccatgcatggggaccttcctcctccaccagggcatccagcgacggattacggtgaca
ctactgcatgagacaggcagccatatccgctggaaggaagtgcgcgagctggtcgtgggc
cgcatccgaaacactccagagaccgacgagtccctgatcgaccccaacatcttgtctctc
aacatcctctcttccggatacatccacccagcccaagatgaccggaccttttaccaattt
gaggctgcgtgggacagctccatgcacaactctctcctgctgaaccgggtcaccccttat
cgagagaaaatctacatgacactctccgcttatatcgagatggagaactgcacccagccg
gctgttgtcaccaaggacttctgcatggtcttctattcccgtgatgccaagctgccagcc
tcgcgctccatccgcaacctctttggcagtgggagccttcgggcctcagagagtaaccgt
gtgactggtgtgtacgagctcagcctgtgccacgtggctgacgcgggcagcccagggatg
cagcgccggcgccgacgagtcctggacacatctgtggcctatgtccggggcgaggagaac
ctggcaggctggaggccccggagtgacagtctcattctggaccaccagtgggagctggag
aagctgagcctcctgcaggaggtggagaagactaggcactacctgctcctgcgggagaag
ctggagaccgcccagcggcctgtcccggaggcactgtccccggccttcagcgaggactct
gagtcccatggctcctccagcgcctcctccccgctctcggctgagggccgcccatcaccc
ctggaggctcccaacgagaggcagcgggagctggccgtcaagtgcttgcgcctgctcacg
cacacattcaacagagagtacacacacagccacgtctgcgtcagtgccagcgagagcaag
ctctccgagatgtctgtcaccctgctccgggacccgtcgatgtcccctctaggggtggcc
actctcaccccctcctccacttgcccctctctggttgaagggcggtacggtgccactgac
ctgaggaccccgcagccctgctcccggccagccagcccagagcccgagctgctgccagag
gccgactccaagaagctcccttcccctgcccgggcaacagagacagacaaggagccccag
cgcctgctggtccctgacatccaggagatccgagtcagcccgatcgtttccaagaagggg
tacctgcacttcctggagccgcacacgtcaggctgggccaggcgcttcgtggtggtgcgg
cgcccctatgcctacatgtacaacagcgacaaggacaccgtggagcggttcgtgctcaac
ctggccactgcccaggtggagtacagtgaggaccagcaggctatgctcaagacacccaac
acattcgcggtgtgcacggaacaccgcggcatcctgctgcaggccgccagcgacaaggac
atgcatgactggctgtacgccttcaaccccctcctggccgggaccatacggtccaagctc
tccagaaggaggtctgcccagatgcgggtctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (8)   
   KEGG DISEASE (3)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (21)   
   KEGG ORTHOLOGY (1)   
   RefGene (11)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (35)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (33)   
DNA sequence (95)   
   RefSeq(nuc) (33)   
   GenBank (31)   
   EMBL (31)   
3D Structure (6)   
   PDB (6)   
Protein domain (9)   
   Pfam (9)   
All databases (178)   

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