KEGG   Homo sapiens (human): 547Help
Entry
547               CDS       T01001                                 

Gene name
KIF1A, ATSV, C2orf20, HSN2C, MRD9, SPG30, UNC104
Definition
(RefSeq) kinesin family member 1A
  KO
K10392  kinesin family member 1
Organism
hsa  Homo sapiens (human)
Disease
H00265  Hereditary sensory and autonomic neuropathy
H00266  Hereditary spastic paraplegia
H00773  Autosomal dominant mental retardation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Kinesin Kinesin_assoc DUF3694 Microtub_bd PH KIF1B FHA Yop-YscD_cpl IstB_IS21
Motif
Other DBs
NCBI-GeneID: 547
NCBI-ProteinID: NP_004312
OMIM: 601255
HGNC: 888
Ensembl: ENSG00000130294
Vega: OTTHUMG00000151940
Pharos: Q12756(Tbio)
UniProt: Q12756
Structure
PDB: 

Position
2q37.3
AA seq 1690 aa AA seqDB search
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 NT seq  +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

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