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

Gene name
ALS2, ALS2CR6, ALSJ, IAHSP, PLSJ
Definition
(RefSeq) alsin Rho guanine nucleotide exchange factor ALS2
  KO
K04575  amyotrophic lateral sclerosis 2 protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
H00970  Juvenile primary lateral sclerosis
H01172  Infantile ascending hereditary spastic paralysis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    57679 (ALS2)
   05022 Pathways of neurodegeneration - multiple diseases
    57679 (ALS2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    57679 (ALS2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Other centriole associated proteins
    57679 (ALS2)
SSDB
Motif
Pfam: RCC1 MORN RCC1_2 VPS9 RhoGEF PH DUF1682
Other DBs
NCBI-GeneID: 57679
NCBI-ProteinID: NP_065970
OMIM: 606352
HGNC: 443
Ensembl: ENSG00000003393
Vega: OTTHUMG00000154507
Pharos: Q96Q42(Tbio)
UniProt: Q96Q42 A8K4R4
Position
2q33.1
AA seq 1657 aa
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   +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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