Homo sapiens (human): 57679
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Entry
57679 CDS
T01001
Symbol
ALS2, ALS2CR6, ALSJ, IAHSP, PLSJ
Name
(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-onset 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 proteins
Other centrosome associated proteins
57679 (ALS2)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
RCC1
MORN
RCC1_2
VPS9
RhoGEF
PH
CCDC47
Motif
Other DBs
NCBI-GeneID:
57679
NCBI-ProteinID:
NP_065970
OMIM:
606352
HGNC:
443
Ensembl:
ENSG00000003393
UniProt:
Q96Q42
A8K4R4
LinkDB
All DBs
Position
2:complement(201700267..201780933)
Genome browser
AA seq
1657 aa
AA seq
DB 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
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
