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
hsa05014  Amyotrophic lateral sclerosis (ALS)
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 diseases
   05014 Amyotrophic lateral sclerosis (ALS)
    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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: RCC1 MORN RCC1_2 VPS9 RhoGEF PH
Motif
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 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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