KEGG   Homo sapiens (human): 54809
Entry
54809             CDS       T01001                                 
Symbol
SAMD9, C7orf5, DRIF1, M7MLS2, MIRAGE, NFTC, OEF1, OEF2
Name
(RefSeq) sterile alpha motif domain containing 9
  KO
K23949  sterile alpha motif domain-contaning protein 9
Organism
hsa  Homo sapiens (human)
Disease
H01193  Familial tumoral calcinosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    54809 (SAMD9)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   Others
    54809 (SAMD9)
SSDB
Motif
Pfam: SAM_1 SAM_2 SAM_PNT Ish1
Other DBs
NCBI-GeneID: 54809
NCBI-ProteinID: NP_001180236
OMIM: 610456
HGNC: 1348
Ensembl: ENSG00000205413
UniProt: Q5K651
Structure
LinkDB
Position
7:complement(93099518..93117979)
AA seq 1589 aa
MAKQLNLPENTDDWTKEDVNQWLESHKIDQKHREILTEQDVNGAVLKWLKKEHLVDMGIT
HGPAIQIEELFKELRKTAIEDSIQTSKMGKPSKNAPKDQTVSQKERRETSKQKQKGKENP
DMANPSAMSTTAKGSKSLKVELIEDKIDYTKERQPSIDLTCVSYPFDEFSNPYRYKLDFS
LQPETGPGNLIDPIHEFKAFTNTATATEEDVKMKFSNEVFRFASACMNSRTNGTIHFGVK
DKPHGKIVGIKVTNDTKEALINHFNLMINKYFEDHQVQQAKKCIREPRFVEVLLPNSTLS
DRFVIEVDIIPQFSECQYDYFQIKMQNYNNKIWEQSKKFSLFVRDGTSSKDITKNKVDFR
AFKADFKTLAESRKAAEEKFRAKTNKKEREGPKLVKLLTGNQDLLDNSYYEQYILVTNKC
HPDQTKHLDFLKEIKWFAVLEFDPESNINGVVKAYKESRVANLHFPSVYVEQKTTPNETI
STLNLYHQPSWIFCNGRLDLDSEKYKPFDPSSWQRERASDVRKLISFLTHEDIMPRGKFL
VVFLLLSSVDDPRDPLIETFCAFYQDLKGMENILCICVHPHIFQGWKDLLEARLIKHQDE
ISSQCISALSLEEINGTILKLKSVTQSSKRLLPSIGLSTVLLKKEEDIMTALEIICENEC
EGTLLEKDKNKFLEFKASKEEDFYRGGKVSWWNFYFSSESYSSPFVKRDKYERLEAMIQN
CADSSKPTSTKIIHLYHHPGCGGTTLAMHILWELRKKFRCAVLKNKTVDFSEIGEQVTSL
ITYGAMNRQEYVPVLLLVDDFEEQDNVYLLQYSIQTAIAKKYIRYEKPLVIILNCMRSQN
PEKSARIPDSIAVIQQLSPKEQRAFELKLKEIKEQHKNFEDFYSFMIMKTNFNKEYIENV
VRNILKGQNIFTKEAKLFSFLALLNSYVPDTTISLSQCEKFLGIGNKKAFWGTEKFEDKM
GTYSTILIKTEVIECGNYCGVRIIHSLIAEFSLEELKKSYHLNKSQIMLDMLTENLFFDT
GMGKSKFLQDMHTLLLTRHRDEHEGETGNWFSPFIEALHKDEGNEAVEAVLLESIHRFNP
NAFICQALARHFYIKKKDFGNALNWAKQAKIIEPDNSYISDTLGQVYKSKIRWWIEENGG
NGNISVDDLIALLDLAEHASSAFKESQQQSEDREYEVKERLYPKSKRRYDTYNIAGYQGE
IEVGLYTIQILQLIPFFDNKNELSKRYMVNFVSGSSDIPGDPNNEYKLALKNYIPYLTKL
KFSLKKSFDFFDEYFVLLKPRNNIKQNEEAKTRRKVAGYFKKYVDIFCLLEESQNNTGLG
SKFSEPLQVERCRRNLVALKADKFSGLLEYLIKSQEDAISTMKCIVNEYTFLLEQCTVKI
QSKEKLNFILANIILSCIQPTSRLVKPVEKLKDQLREVLQPIGLTYQFSEPYFLASLLFW
PENQQLDQHSEQMKEYAQALKNSFKGQYKHMHRTKQPIAYFFLGKGKRLERLVHKGKIDQ
CFKKTPDINSLWQSGDVWKEEKVQELLLRLQGRAENNCLYIEYGINEKITIPITPAFLGQ
LRSGRSIEKVSFYLGFSIGGPLAYDIEIV
NT seq 4770 nt   +upstreamnt  +downstreamnt
atggcaaagcaacttaaccttccagaaaatacagatgattggacaaaagaggatgtaaat
cagtggttagaaagtcataagattgaccaaaaacacagggaaattttgactgaacaagac
gtgaatggagcagtcttgaagtggttaaaaaaagaacatcttgttgatatgggcatcaca
catggaccagctattcaaatagaagaactattcaaagaattgcggaaaacagccattgaa
gattcgattcagacatctaagatgggaaagcccagtaaaaatgctcctaaagaccaaact
gtgtctcaaaaggaacgtagagaaacttcaaagcaaaaacaaaagggtaaagagaaccca
gatatggctaatccgtctgcaatgagtacaactgctaaaggttctaagtcactaaaagtt
gagctcatagaagataaaatagattatacaaaggaaaggcaaccatccatagacctgaca
tgtgtatcatatccatttgatgaattcagtaatccatatcgttacaagttggattttagt
ctacagcctgaaacaggaccaggcaatctcattgatccgatacatgaattcaaagccttc
acaaatacagcaacagccacagaagaggatgtcaagatgaaatttagcaatgaggttttc
cgatttgcttcagcttgtatgaattcacgtaccaatggcactattcattttggagtcaaa
gacaaaccccatgggaaaattgttggcatcaaagtcaccaatgataccaaggaagccctc
attaaccatttcaatctgatgataaacaagtattttgaagaccatcaagtccaacaagca
aagaagtgcattcgagagccaagatttgtggaagttttactgccaaatagtactctatct
gacagatttgttattgaagtggacattattccacagttctctgaatgccaatatgattat
ttccagattaaaatgcaaaattacaacaacaaaatatgggaacaaagtaaaaaattctca
ctatttgtgcgagatgggaccagctctaaggacattacgaaaaataaagttgatttcaga
gcatttaaagcagattttaaaacactggcagagtccagaaaagcagcagaagaaaaattc
agagcaaaaacaaataaaaaagaaagagagggaccaaagttggttaaattattgacagga
aatcaagatttgttagataattcatactatgaacagtacattcttgtaacaaataaatgc
cacccagatcaaacaaaacacttagatttcctgaaggaaattaaatggtttgctgtattg
gagtttgatcctgagtctaacatcaatggagtggtcaaagcttacaaagaaagccgagta
gcaaaccttcactttccaagtgtatatgtagaacagaaaaccacaccaaatgagacgatt
tctactctaaatctttaccatcaacccagctggattttctgcaatggcaggttagacctt
gacagtgaaaaatataaaccctttgatccaagttcctggcaaagagaaagagcttctgat
gtcaggaaactgatttcatttcttacacatgaagacataatgccaagagggaagtttttg
gtggtatttctattactgtcctctgtggatgacccaagagatcccctcattgagactttc
tgtgctttctaccaggatctcaaaggaatggaaaatatactgtgtatttgtgtgcaccca
cacatatttcagggatggaaagatctacttgaagcaagattaataaaacaccaagatgaa
atttcaagccaatgtatttctgctttaagccttgaagagatcaatggcactattcttaaa
ctaaaatctgtgactcaatcttcaaaaaggcttttgccatctattggtttatcgactgtc
cttctgaaaaaggaagaagatatcatgactgctctggaaattatctgtgaaaatgaatgt
gagggtacactgttagagaaggacaaaaataaattccttgaattcaaggcatcaaaagag
gaagacttctatcgaggtggcaaagtgtcatggtggaacttctacttctcttctgaaagt
tattcttcaccttttgtcaaaagggataaatatgaaagacttgaagcaatgattcaaaac
tgtgcagattcttctaaaccaacaagtaccaaaattattcatctgtatcatcatccaggc
tgtgggggaactaccttggctatgcacattctctgggaactaaggaagaaattcagatgt
gctgtgctgaaaaacaagacagtggatttttctgaaattggagaacaggtaaccagttta
atcacctatggggcaatgaaccgtcaggaatacgtacctgtactactccttgttgatgat
tttgaagaacaagataatgtctatcttctgcagtactctattcaaacagctatagctaaa
aagtacattcgatatgaaaaacctctggtgattatcctaaattgtatgagatcacaaaat
cctgaaaaaagtgcaaggatcccagacagtattgccgtaatacagcaactctctcccaaa
gaacagagagcttttgagcttaaattgaaagaaatcaaagaacagcataaaaactttgag
gatttttattcctttatgatcatgaaaaccaattttaataaagaatacatagaaaatgtg
gtccggaatatcctgaaagggcagaatattttcaccaaggaagcaaagctcttttctttt
ctggctcttcttaattcatatgtgcctgataccaccatttcactatcacagtgtgaaaaa
ttcttaggaattggaaacaagaaggctttctgggggacagaaaaatttgaagacaagatg
ggcacctactctacaattctgataaaaacagaggtcatcgaatgtgggaactactgtgga
gtacgcatcattcactctttgattgcagagttctcactggaagaattgaagaaaagctat
cacctgaataaaagtcaaattatgttggatatgctaactgagaatttgttcttcgatact
ggtatgggaaaaagtaaatttttgcaagatatgcacacactcctactcacaagacaccgc
gatgaacatgaaggtgaaacaggaaattggttttccccatttattgaagcattacataaa
gatgaaggaaatgaagcagttgaagctgtattgcttgaaagtatccatcggttcaaccca
aatgcattcatttgccaagcgttggcaagacatttctacattaaaaagaaggactttggc
aatgctctaaactgggcaaaacaagcaaaaatcatagaacctgacaattcttatatctca
gatacactgggtcaagtctacaaaagtaaaataagatggtggatagaggaaaacggagga
aacgggaacatttcagttgatgatctaattgctcttttggatttagcagaacatgcctca
agtgcattcaaagaatctcaacagcaaagtgaagatagagagtatgaagtgaaggaaaga
ttgtatccgaagtcaaaaaggcggtatgatacttacaatatagctggttatcaaggagag
atagaagttgggctttacacaatccaaattctccagctcattcctttttttgataataaa
aatgagctatctaaaagatatatggtcaattttgtatcaggaagtagtgatattccaggg
gatccaaacaatgaatataaattagccctcaaaaactatattccttatttaactaaattg
aaattttctttgaaaaagtcctttgatttttttgatgaatactttgtcctgctaaaaccc
aggaacaatattaagcaaaatgaagaggccaaaactcggagaaaggtggctggatatttt
aagaaatatgtagatatattttgtctcttagaagaatcacaaaacaacacaggtcttgga
tcaaagttcagtgagccacttcaagtagagagatgcaggagaaacctagtagctttaaaa
gcagacaagttttctgggctcttggaatatcttatcaaaagtcaagaggatgctataagc
actatgaaatgtatagtgaacgaatatacttttctcttagaacaatgcactgtcaaaatc
cagtcaaaagaaaagctaaatttcatcttggccaacattattctctcctgtatccaacct
acctccagattagtaaagccagttgaaaaactaaaagatcagcttcgagaagtcttgcaa
ccaataggactgacttatcagttttcagaaccgtattttctagcttccctcttattctgg
ccagaaaatcaacaactagatcaacattctgaacaaatgaaagagtatgctcaagcacta
aaaaattctttcaaggggcaatataaacatatgcatcgtacaaagcaaccaattgcatat
ttctttcttggaaaaggtaaaagactggaaagacttgttcacaaaggaaaaattgaccag
tgctttaagaagacaccagatattaattccttgtggcagagtggagatgtgtggaaggag
gaaaaagtccaagaacttttgcttcgtttacaaggtcgagctgaaaacaattgtttatat
atagaatatggaatcaatgaaaaaatcacaatacccatcactcccgcttttttaggtcaa
cttagaagtggcagaagcatagagaaggtgtctttttacctgggattttccattggaggc
ccacttgcttatgacattgaaattgtttaa

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