KEGG   Homo sapiens (human): 219285
Entry
219285            CDS       T01001                                 
Symbol
SAMD9L, ATXPC, C7DELq, C7orf6, DEL7q, DRIF2, M7MLS1, MLSM7, SCA49, UEF1
Name
(RefSeq) sterile alpha motif domain containing 9 like
  KO
K23949  sterile alpha motif domain-contaning protein 9
Organism
hsa  Homo sapiens (human)
Disease
H00063  Spinocerebellar ataxia (SCA)
H02524  Ataxia-pancytopenia syndrome
H02878  Monosomy 7 myelodysplasia and leukemia syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    219285 (SAMD9L)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   Others
    219285 (SAMD9L)
SSDB
Motif
Pfam: SAM_1 SAM_Ste50p AAA
Other DBs
NCBI-GeneID: 219285
NCBI-ProteinID: NP_001290425
OMIM: 611170
HGNC: 1349
Ensembl: ENSG00000177409
UniProt: Q8IVG5
LinkDB
Position
7:complement(93130056..93148385)
AA seq 1584 aa
MSKQVSLPEMIKDWTKEHVKKWVNEDLKINEQYGQILLSEEVTGLVLQELTEKDLVEMGL
PWGPALLIKRSYNKLNSKSPESDNHDPGQLDNSKPSKTEHQKNPKHTKKEEENSMSSNID
YDPREIRDIKQEESILMKENVLDEVANAKHKKKGKLKPEQLTCMPYPFDQFHDSHRYIEH
YTLQPETGALNLIDPIHEFKALTNTETATEVDIKMKFSNEVFRFASACMNSRTNGTIHFG
VKDKPHGEIVGVKITSKAAFIDHFNVMIKKYFEESEINEAKKCIREPRFVEVLLQNNTPS
DRFVIEVDTIPKHSICNDKYFYIQMQICKDKIWKQNQNLSLFVREGASSRDILANSKQRD
VDFKAFLQNLKSLVASRKEAEEEYGMKAMKKESEGLKLVKLLIGNRDSLDNSYYDWYILV
TNKCHPNQIKHLDFLKEIKWFAVLEFDPESMINGVVKAYKESRVANLHFPNQYEDKTTNM
WEKISTLNLYQQPSWIFCNGRSDLKSETYKPLEPHLWQRERASEVRKLILFLTDENIMTR
GKFLVVFLLLSSVESPGDPLIETFWAFYQALKGMENMLCISVNSHIYQRWKDLLQTRMKM
EDELTNHSISTLNIELVNSTILKLKSVTRSSRRFLPARGSSSVILEKKKEDVLTALEILC
ENECTETDIEKDKSKFLEFKKSKEEHFYRGGKVSWWNFYFSSENYSSDFVKRDSYEKLKD
LIHCWAESPKPIFAKIINLYHHPGCGGTTLAMHVLWDLKKNFRCAVLKNKTTDFAEIAEQ
VINLVTYRAKSHQDYIPVLLLVDDFEEQENVYFLQNAIHSVLAEKDLRYEKTLVIILNCM
RSRNPDESAKLADSIALNYQLSSKEQRAFGAKLKEIEKQHKNCENFYSFMIMKSNFDETY
IENVVRNILKGQDVDSKEAQLISFLALLSSYVTDSTISVSQCEIFLGIIYTSTPWEPESL
EDKMGTYSTLLIKTEVAEYGRYTGVRIIHPLIALYCLKELERSYHLDKCQIALNILEENL
FYDSGIGRDKFQHDVQTLLLTRQRKVYGDETDTLFSPLMEALQNKDIEKVLSAGSRRFPQ
NAFICQALARHFYIKEKDFNTALDWARQAKMKAPKNSYISDTLGQVYKSEIKWWLDGNKN
CRSITVNDLTHLLEAAEKASRAFKESQRQTDSKNYETENWSPQKSQRRYDMYNTACFLGE
IEVGLYTIQILQLTPFFHKENELSKKHMVQFLSGKWTIPPDPRNECYLALSKFTSHLKNL
QSDLKRCFDFFIDYMVLLKMRYTQKEIAEIMLSKKVSRCFRKYTELFCHLDPCLLQSKES
QLLQEENCRKKLEALRADRFAGLLEYLNPNYKDATTMESIVNEYAFLLQQNSKKPMTNEK
QNSILANIILSCLKPNSKLIQPLTTLKKQLREVLQFVGLSHQYPGPYFLACLLFWPENQE
LDQDSKLIEKYVSSLNRSFRGQYKRMCRSKQASTLFYLGKRKGLNSIVHKAKIEQYFDKA
QNTNSLWHSGDVWKKNEVKDLLRRLTGQAEGKLISVEYGTEEKIKIPVISVYSGPLRSGR
NIERVSFYLGFSIEGPLAYDIEVI
NT seq 4755 nt   +upstreamnt  +downstreamnt
atgagtaaacaagtatctctacctgaaatgattaaagactggaccaaagagcatgtgaaa
aaatgggtaaatgaagaccttaagattaatgagcaatacgggcaaattctgctcagtgaa
gaagtaacaggattagtcctgcaggaattaactgagaaggaccttgtagaaatggggcta
ccatggggtccagcacttttgataaaacgttcatacaacaaattgaatagtaagtcccct
gaaagtgacaatcatgatccgggacaattagataattcaaaaccgtccaaaacagaacac
cagaaaaatccaaaacacaccaaaaaggaagaagaaaattcaatgtcatctaatattgat
tatgatcccagagagatcagagatatcaaacaagaagaatcaattcttatgaaagaaaat
gtgttagatgaagtagcaaatgctaaacacaagaaaaagggtaagctaaaacctgaacaa
ttgacttgtatgccatatccttttgatcagttccatgacagccatcgctacatagaacat
tatactctacaacctgaaacaggagcactcaatctcattgatccaatacatgagttcaaa
gctctcacaaacacagaaacagccacggaagtggacattaagatgaaattcagcaatgaa
gtcttccgatttgcatcagcttgtatgaattcacgcaccaatggcaccatccattttgga
gtcaaggacaaaccccatggagaaattgttggtgtgaaaatcaccagtaaggctgccttc
attgaccacttcaatgtaatgatcaaaaagtattttgaagaaagtgagatcaatgaagcc
aagaagtgtattcgggagccaaggtttgtggaagtccttctgcagaacaatacaccatct
gacagatttgtcattgaagttgatactattccaaaacactctatatgtaatgataagtat
ttctacattcagatgcaaatttgtaaagataaaatatggaaacaaaaccaaaatctttca
ctgtttgtaagagaaggggctagctctagggatatcctggccaattccaagcaacgggat
gtagatttcaaggcatttttacaaaatttaaagtcactggtagcatctagaaaagaggct
gaagaagagtatggaatgaaggcaatgaagaaggagagtgaaggactaaagctggttaaa
cttctcataggaaaccgagactcactggataattcatactatgactggtacattcttgta
acaaataaatgccatccaaaccaaataaagcacttagattttttaaaagaaattaaatgg
tttgctgtgttggagtttgatcctgaatctatgatcaatggagtggtcaaagcttacaaa
gaaagtcgggtggcaaaccttcactttccaaatcaatatgaagacaagacaactaacatg
tgggagaagatttctactcttaatctttaccaacagcccagctggattttctgcaacggc
agatcagacctgaaaagcgagacatataaacctctagaaccacatttatggcagagagaa
agagcttcagaagtcaggaaactaattttatttctcacagatgaaaatataatgacaaga
ggaaaatttttggtagtgtttctattactctcttcagtggaaagcccaggagatccactc
attgaaactttctgggctttctatcaagctctcaaaggaatggaaaatatgttgtgtatc
tctgtaaactcacatatttatcaacgatggaaagatctactacaaacaagaatgaagatg
gaagatgaactaacaaaccacagtatttccactttaaatatagaactggtaaacagcact
atccttaaactaaaatcggtgactcggtcatcaagaaggtttttgcccgcccgtggatct
tcttcagttatcctagagaaaaagaaagaggatgtcttgactgcactggaaatcctctgt
gaaaatgagtgtacagagacagacatcgagaaagacaaatctaaattcctggagtttaag
aaatcaaaagaagaacacttttatcgaggtggcaaagtatcctggtggaacttctatttt
tcttctgaaaactattcttcagattttgttaaaagggacagttatgaaaagcttaaagat
ttaatacactgctgggcagagtctcctaaaccaatatttgcaaaaatcatcaatctttat
catcatccaggctgtggaggtaccacactggctatgcatgttctctgggacttaaagaaa
aacttcagatgtgctgtgttaaaaaacaagacaactgattttgcagaaattgcagagcaa
gtgatcaatctggtcacctatagggcaaagagccatcaggattacattcctgtgcttctc
cttgtggatgattttgaagaacaagaaaatgtctactttctacaaaatgccatccattcc
gttttagcagaaaaggatttgcgatatgaaaaaacattggtaattatcttaaactgcatg
agatcccggaatccagatgaaagtgcaaaattggcagacagtattgcactaaattaccaa
ctttcttccaaggaacaaagagcttttggtgccaaactgaaggaaattgaaaagcagcac
aagaactgtgaaaacttttattccttcatgatcatgaaaagcaattttgatgaaacatat
atagaaaatgtagtcaggaatatcctaaaaggacaggatgttgacagcaaggaagcacaa
ctcatttccttcctggctttactcagctcttatgttactgactctacaatttcagtttca
cagtgtgaaatatttttgggaatcatatacactagtacaccctgggaacctgaaagctta
gaagacaagatgggaacttattctacacttctaataaaaacagaagttgcagaatatggg
agatacacaggtgtgcgtatcattcaccctctgattgccctgtactgtctaaaagaactg
gaaagaagctatcacttggataaatgtcaaattgcattgaatatattagaagagaattta
ttctatgattctggaataggaagagacaaatttcaacatgatgttcaaactcttctgctt
acaagacagcgcaaggtgtatggagatgaaacagacactctgttttccccattaatggaa
gctttacagaataaagacattgaaaaggtcttgagtgcaggaagtagacgattcccacaa
aatgcattcatttgtcaagccttagcaagacatttctacattaaagagaaggactttaac
acagctctggactgggcacgtcaggccaaaatgaaagcacctaaaaattcctatatttca
gatacactaggtcaagtctacaaaagtgaaatcaaatggtggttggatgggaacaaaaac
tgtaggagcattactgttaatgacctaacacatctcctagaagctgcggaaaaagcctca
agagctttcaaagaatcccaaaggcaaactgatagtaaaaactatgaaaccgagaactgg
tcaccacagaagtcccagagacgatatgacatgtataacacagcttgtttcttgggtgaa
atagaagttggtctttacactatccagattcttcagctcactccctttttccacaaagaa
aatgaattatccaaaaaacatatggtgcaatttttatcaggaaagtggaccattcctcct
gatcccagaaatgaatgttatttggctcttagcaagttcacatcccacctaaaaaattta
caatcagatctgaaaaggtgctttgacttttttattgattatatggttcttctgaaaatg
aggtatacccaaaaagaaattgcagaaatcatgttaagcaagaaagtcagtcgttgtttc
aggaaatacacagaacttttctgtcatttggatccatgtctattacaaagtaaagagagt
caattactccaggaggagaattgcaggaaaaagctagaagctctgagagcagataggttt
gctggactcttggaatatcttaatccaaactacaaagatgctaccaccatggaaagtata
gtgaatgaatatgccttcctactgcagcaaaactcaaaaaagcccatgacaaatgagaaa
caaaattccattttggccaacattattctgagttgtctaaagcccaactccaagttaatt
caaccacttaccacgctaaaaaaacaactccgagaggtcttgcaatttgtaggactaagt
catcaatatccaggtccttatttcttggcctgcctcctgttctggccagaaaatcaagag
ctagatcaagattccaaactaatagaaaagtatgtttcatccttaaatagatccttcagg
ggacagtacaagcgcatgtgcaggtccaagcaggcaagcacacttttctatctgggcaaa
aggaagggtctaaacagtattgttcacaaggccaaaatagagcagtactttgataaagca
caaaatacaaattccctctggcacagtggggatgtgtggaaaaaaaatgaagtcaaagac
ctcctgcgtcgtctaactggtcaggctgaaggcaagctaatctctgtagaatatggaaca
gaggaaaaaataaaaataccagtaatatctgtttattcaggtccactcagaagtggtagg
aacatagaaagagtgtctttctacctaggattttccattgaaggccctctggcatatgat
atagaagtaatttaa

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