KEGG   Homo sapiens (human): 57679Help
Entry
57679             CDS       T01001                                 

Gene name
ALS2, ALS2CR6, ALSJ, IAHSP, PLSJ
Definition
(RefSeq) ALS2, alsin Rho guanine nucleotide exchange factor
  KO
K04575  
amyotrophic lateral sclerosis 2 protein
Organism
hsa  Homo sapiens (human)
Pathway
Amyotrophic lateral sclerosis (ALS)
Disease
H00058  
Amyotrophic lateral sclerosis (ALS)
H00970  
Juvenile primary lateral sclerosis
H01172  
Infantile ascending hereditary spastic paralysis (IAHSP)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Human Diseases
  Neurodegenerative diseases
   05014 Amyotrophic lateral sclerosis (ALS)
    57679 (ALS2)
Chromosome [BR:hsa03036]
 Eukaryotic Type
  Centrosome formation and ciliogenesis proteins
   Other centriole associated proteins
    57679 (ALS2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
2q33.1
AA seq 1657 aa AA seqDB search
MDSKKRSSTEAEGSKERGLVHIWQAGSFPITPERLPGWGGKTVLQAALGVKHGVLLTEDG
EVYSFGTLPWRSGPVEICPSSPILENALVGQYVITVATGSFHSGAVTDNGVAYMWGENSA
GQCAVANQQYVPEPNPVSIADSEASPLLAVRILQLACGEEHTLALSISREIWAWGTGCQL
GLITTAFPVTKPQKVEHLAGRVVLQVACGAFHSLALVQCLPSQDLKPVPERCNQCSQLLI
TMTDKEDHVIISDSHCCPLGVTLTESQAENHASTALSPSTETLDRQEEVFENTLVANDQS
VATELNAVSAQITSSDAMSSQQNVMGTTEISSARNIPSYPDTQAVNEYLRKLSDHSVRED
SEHGEKPVPSQPLLEEAIPNLHSPPTTSTSALNSLVVSCASAVGVRVAATYEAGALSLKK
VMNFYSTTPCETGAQAGSSAIGPEGLKDSREEQVKQESMQGKKSSSLVDIREEETEGGSR
RLSLPGLLSQVSPRLLRKAARVKTRTVVLTPTYSGEADALLPSLRTEVWTWGKGKEGQLG
HGDVLPRLQPLCVKCLDGKEVIHLEAGGYHSLALTAKSQVYSWGSNTFGQLGHSDFPTTV
PRLAKISSENGVWSIAAGRDYSLFLVDTEDFQPGLYYSGRQDPTEGDNLPENHSGSKTPV
LLSCSKLGYISRVTAGKDSYLALVDKNIMGYIASLHELATTERRFYSKLSDIKSQILRPL
LSLENLGTTTTVQLLQEVASRFSKLCYLIGQHGASLSSFLHGVKEARSLVILKHSSLFLD
SYTEYCTSITNFLVMGGFQLLAKPAIDFLNKNQELLQDLSEVNDENTQLMEILNTLFFLP
IRRLHNYAKVLLKLATCFEVASPEYQKLQDSSSCYECLALHLGRKRKEAEYTLGFWKTFP
GKMTDSLRKPERRLLCESSNRALSLQHAGRFSVNWFILFNDALVHAQFSTHHVFPLATLW
AEPLSEEAGGVNGLKITTPEEQFTLISSTPQEKTKWLRAISQAVDQALRGMSDLPPYGSG
SSVQRQEPPISRSAKYTFYKDPRLKDATYDGRWLSGKPHGRGVLKWPDGKMYSGMFRNGL
EDGYGEYRIPNKAMNKEDHYVGHWKEGKMCGQGVYSYASGEVFEGCFQDNMRHGHGLLRS
GKLTSSSPSMFIGQWVMDKKAGYGVFDDITRGEKYMGMWQDDVCQGNGVVVTQFGLYYEG
NFHLNKMMGNGVLLSEDDTIYEGEFSDDWTLSGKGTLTMPNGDYIEGYFSGEWGSGIKIT
GTYFKPSLYESDKDRPKVFRKLGNLAVPADEKWKAVFDECWRQLGCEGPGQGEVWKAWDN
IAVALTTSRRQHRDSPEILSRSQTQTLESLEFIPQHVGAFSVEKYDDIRKYLIKACDTPL
HPLGRLVETLVAVYRMTYVGVGANRRLLQEAVKEIKSYLKRIFQLVRFLFPELPEEGSTI
PLSAPLPTERKSFCTGKSDSRSESPEPGYVVTSSGLLLPVLLPRLYPPLFMLYALDNDRE
EDIYWECVLRLNKQPDIALLGFLGVQRKFWPATLSILGESKKVLPTTKDACFASAVECLQ
QISTTFTPSDKLKVIQQTFEEISQSVLASLHEDFLWSMDDLFPVFLYVVLRARIRNLGSE
VHLIEDLMDPYLQHGEQGIMFTTLKACYYQIQREKLN
NT seq 4974 nt NT seq  +upstreamnt  +downstreamnt
atggactcaaagaagagaagctcaacagaggcagaaggatccaaggaaagaggcctggtc
catatctggcaggcaggatcctttcccataacaccagagagattgccaggctggggagga
aagactgttttgcaggcagccctcggagtgaaacatggagttcttctgactgaagatggt
gaggtctacagctttgggactcttccctggagaagtggaccagtggagatttgtccaagt
agccccattctagaaaatgccctggttgggcaatatgttattactgtggcaacaggaagc
ttccatagtggagcagtgacagacaatggtgtcgcgtacatgtggggagagaattctgct
ggccagtgtgcagtagccaaccagcagtatgtgccggaaccaaatcctgtcagcattgct
gattctgaggccagccctttgttagcagtcaggattttacagttggcgtgtggcgaggag
cacactctggcattgtcaataagcagagagatttgggcatggggtaccggttgtcagttg
ggtctcattaccactgccttcccagtgacaaagccgcaaaaggtagaacatcttgctggg
cgagtggtgcttcaagttgcctgtggtgctttccacagcttagcccttgtacaatgcctc
ccttcccaggatctgaagccagtcccagaacgatgcaaccagtgcagccagctcttgatt
actatgactgacaaagaagaccatgtgattatatcagacagtcattgttgcccattaggt
gtgacactgacagaatctcaggcagaaaaccatgccagcactgctctcagcccctccact
gaaacccttgacaggcaggaagaagtatttgagaacactcttgtagcaaatgatcagtct
gttgctactgaactgaatgcagtaagtgctcagatcacaagcagcgatgccatgtcctct
caacaaaatgtcatgggaacaactgaaatttcctctgccagaaacataccatcataccct
gacacccaagcagtcaatgaatacctacggaaactgtcagatcattcagtaagagaggac
tcagagcatggtgaaaagccagtgccatctcagcctcttttagaagaagcaattcctaat
ctccacagcccgcctaccacaagcacctcagccctaaacagcctggtggtctcttgtgca
tctgctgttggtgtgagagtggctgctacttatgaagctggtgccttgtcactgaagaaa
gttatgaacttttatagtacaaccccttgtgaaactggagctcaggcaggcagtagtgcc
attggccccgaaggtttgaaagatagcagggaagaacaggttaaacaggaatcaatgcaa
ggaaagaaaagttcaagtcttgtggatatcagagaagaagaaacagagggaggcagtcga
agactctccctccctggattgttgtcacaagtttcccccaggctcttaagaaaggctgca
cgggtgaaaacgaggacagtggttctgacccccacatacagtggagaagcagatgcgctc
ctgccttctctgagaacagaagtgtggacctgggggaaagggaaggaagggcagctgggg
cacggcgatgttctgcctaggcttcaaccgttgtgtgtaaaatgtctggatggcaaagaa
gtaatccatctggaggcaggtggttaccattctcttgcacttactgcgaaatcccaggtt
tactcatggggtagcaatacctttggtcaacttgggcattccgattttccaacaacagtt
cctcgtcttgcaaagataagcagtgaaaatggagtctggagcatagctgcaggcagggat
tattccctgtttttagtggatacagaagacttccagcctgggttatattacagtggccga
caggaccctacagaaggtgacaaccttccagagaatcacagtggttctaagactccagta
cttctctcctgtagtaagcttggatatataagcagagtgacagcaggaaaagatagctat
ttagccttggtggataaaaacattatggggtatattgccagtctccacgagttagctact
acagaaagacgattctattcaaaactaagtgatatcaaatctcagattctcaggcctctt
ctcagtttagaaaatttgggcactacaactacagtccagctgttgcaggaggtggctagc
cgattcagcaagctgtgttacctcattggtcagcatggagcctcattgagcagcttcctt
catggggtaaaggaagccaggagtttggtcatcctgaagcattcaagtctcttcttggat
agttatacagagtattgcacatctattacaaatttcctggttatgggaggattccagctt
cttgctaagcctgccattgatttcctaaataaaaaccaagagctgttgcaagatttgtca
gaagtgaatgacgaaaacactcagttgatggaaatactgaatactttgtttttcttgcca
atcagacgacttcataattacgcaaaagttttgctaaagcttgctacttgttttgaagtg
gcatctccagaatatcagaaactgcaggattccagttcttgttatgagtgtcttgctctc
catctcggcaggaaaaggaaggaagcagaatacacactgggcttctggaagaccttcccc
ggaaaaatgacggattccttgaggaagccagagcgtcgactgctgtgtgagagtagtaac
cgagccctgtctctgcagcatgctgggaggttttccgtgaattggttcattctctttaat
gatgccctggtccatgcccagttctccacgcaccatgttttccctctggccacgctgtgg
gcagagccactgtctgaagaagctggtggtgtgaatggcttaaagataactacacctgag
gagcagttcactctcatttcatctacaccccaggaaaagacaaagtggctacgagctata
agccaagccgtagatcaggctttgagagggatgtctgatctccccccttatggaagtggt
agcagtgttcagagacaggaaccacccatttcacgcagtgccaaatatactttctacaag
gatcctcgcctaaaggatgccacctatgatggacgctggctttcagggaagcctcatggc
agaggggttttgaagtggcctgatggaaagatgtattctggcatgttcaggaatggcttg
gaagatgggtatggagaatacagaatcccaaacaaggcaatgaacaaagaagaccattat
gtgggccattggaaagaaggaaaaatgtgcggtcaaggagtctacagctatgcttctggt
gaagtatttgagggctgttttcaagataatatgcgtcatggtcatggtcttctacgaagt
gggaaattgacgtcctcttctcctagtatgttcattggccagtgggtaatggataagaaa
gcaggatatggtgtctttgatgatatcactaggggggaaaagtatatgggaatgtggcaa
gatgatgtgtgtcaagggaatggtgtggtggttacccagtttggattatactacgagggc
aactttcaccttaataaaatgatgggaaatggggttttgctttccgaagatgatactatc
tatgaaggagaattttcagatgactggactcttagtggaaagggaacactgactatgcca
aatggagactacattgaaggttattttagtggagaatggggatctgggataaaaatcact
ggaacctacttcaaacctagtctatatgagagtgataaagacagacctaaagttttcagg
aagctaggaaacctggcagtgccagctgatgagaagtggaaagcggtgtttgacgaatgt
tggcgccaactgggctgtgagggcccaggccaaggggaagtttggaaagcatgggacaat
attgctgtggccttgaccaccagtcggcgccagcacagagacagtccagaaatactgagt
cgttcacagactcagacactagagagtttggaattcattccacagcatgttggtgccttc
tctgtggagaaatatgatgacatcaggaaatatttaataaaggcctgtgacactcctctg
caccccctgggcaggcttgtggagacactggttgcagtgtatagaatgacatacgtgggc
gtaggagccaaccgcaggttattgcaggaggctgtaaaggagattaagtcctatcttaag
cgaattttccagctggtgaggttcttatttcctgagctgcctgaagaaggcagcacaatt
cctctctctgctcctctgccaaccgaaaggaagtctttttgcactgggaagtcagattcc
cgatctgaatcaccagagccaggttatgtagtaacgagttctggattattgcttcctgtg
ctgctacctcggctctacccaccgctgtttatgctttatgctttggataatgatcgcgag
gaagacatttactgggaatgtgtccttcgactaaataagcagccagatattgctctcctg
ggctttcttggggtgcagaggaaattttggccagcaaccttgtcaatccttggagagagt
aaaaaggttttgccaaccacgaaagatgcttgttttgcctcagcagtagaatgtctgcag
cagatcagcacaacatttaccccatcagacaaacttaaggtcatccagcagacttttgag
gagatctctcagagtgtcctggcgtcactccacgaagacttcttgtggtccatggatgac
ttgtttcctgttttcttatatgtggtgctacgggccaggattaggaatttaggctctgag
gtacacctcattgaggatctaatggacccctatcttcagcatggggaacagggtataatg
ttcaccaccttgaaggcatgttactaccagattcagcgtgagaagcttaactag

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