SAMD9
entrez
54809
canonical
uniprot
Q5K651
canonical
ensembl
ENSG00000205413
resolver
ensp
ENSP00000369292
resolver
ensp
ENSP00000484636
resolver
enst
ENST00000379958
resolver
enst
ENST00000620985
resolver
genesymbol
SAMD9
resolver
genesymbol_syn
C7orf5
resolver
genesymbol_syn
DRIF1
resolver
genesymbol_syn
KIAA2004
resolver
genesymbol_syn
OEF1
resolver
hgnc
HGNC:1348
resolver
uniprot
A2RU68
resolver
uniprot
Q5K649
resolver
uniprot
Q6P080
resolver
uniprot
Q75N21
resolver
uniprot
Q8IVG6
resolver
uniprot
Q9NXS8
resolver
uniprot_entry
SAMD9_HUMAN
resolver
uniprot_sec
A2RU68
resolver
uniprot_sec
Q5K649
resolver
uniprot_sec
Q6P080
resolver
uniprot_sec
Q75N21
resolver
uniprot_sec
Q8IVG6
resolver
uniprot_sec
Q9NXS8
resolver
amino_acid_sequence
MAKQLNLPENTDDWTKEDVNQWLESHKIDQKHREILTEQDVNGAVLKWLKKEHLVDMGITHGPAIQIEELFKELRKTAIEDSIQTSKMGKPSKNAPKDQTVSQKERRETSKQKQKGKENPDMANPSAMSTTAKGSKSLKVELIEDKIDYTKERQPSIDLTCVSYPFDEFSNPYRYKLDFSLQPETGPGNLIDPIHEFKAFTNTATATEEDVKMKFSNEVFRFASACMNSRTNGTIHFGVKDKPHGKIVGIKVTNDTKEALINHFNLMINKYFEDHQVQQAKKCIREPRFVEVLLPNSTLSDRFVIEVDIIPQFSECQYDYFQIKMQNYNNKIWEQSKKFSLFVRDGTSSKDITKNKVDFRAFKADFKTLAESRKAAEEKFRAKTNKKEREGPKLVKLLTGNQDLLDNSYYEQYILVTNKCHPDQTKHLDFLKEIKWFAVLEFDPESNINGVVKAYKESRVANLHFPSVYVEQKTTPNETISTLNLYHQPSWIFCNGRLDLDSEKYKPFDPSSWQRERASDVRKLISFLTHEDIMPRGKFLVVFLLLSSVDDPRDPLIETFCAFYQDLKGMENILCICVHPHIFQGWKDLLEARLIKHQDEISSQCISALSLEEINGTILKLKSVTQSSKRLLPSIGLSTVLLKKEEDIMTALEIICENECEGTLLEKDKNKFLEFKASKEEDFYRGGKVSWWNFYFSSESYSSPFVKRDKYERLEAMIQNCADSSKPTSTKIIHLYHHPGCGGTTLAMHILWELRKKFRCAVLKNKTVDFSEIGEQVTSLITYGAMNRQEYVPVLLLVDDFEEQDNVYLLQYSIQTAIAKKYIRYEKPLVIILNCMRSQNPEKSARIPDSIAVIQQLSPKEQRAFELKLKEIKEQHKNFEDFYSFMIMKTNFNKEYIENVVRNILKGQNIFTKEAKLFSFLALLNSYVPDTTISLSQCEKFLGIGNKKAFWGTEKFEDKMGTYSTILIKTEVIECGNYCGVRIIHSLIAEFSLEELKKSYHLNKSQIMLDMLTENLFFDTGMGKSKFLQDMHTLLLTRHRDEHEGETGNWFSPFIEALHKDEGNEAVEAVLLESIHRFNPNAFICQALARHFYIKKKDFGNALNWAKQAKIIEPDNSYISDTLGQVYKSKIRWWIEENGGNGNISVDDLIALLDLAEHASSAFKESQQQSEDREYEVKERLYPKSKRRYDTYNIAGYQGEIEVGLYTIQILQLIPFFDNKNELSKRYMVNFVSGSSDIPGDPNNEYKLALKNYIPYLTKLKFSLKKSFDFFDEYFVLLKPRNNIKQNEEAKTRRKVAGYFKKYVDIFCLLEESQNNTGLGSKFSEPLQVERCRRNLVALKADKFSGLLEYLIKSQEDAISTMKCIVNEYTFLLEQCTVKIQSKEKLNFILANIILSCIQPTSRLVKPVEKLKDQLREVLQPIGLTYQFSEPYFLASLLFWPENQQLDQHSEQMKEYAQALKNSFKGQYKHMHRTKQPIAYFFLGKGKRLERLVHKGKIDQCFKKTPDINSLWQSGDVWKEEKVQELLLRLQGRAENNCLYIEYGINEKITIPITPAFLGQLRSGRSIEKVSFYLGFSIGGPLAYDIEIV
uniprot
proteins
disease_involvement
DISEASE: Tumoral calcinosis, normophosphatemic, familial (NFTC) [MIM:610455]: An uncommon, life-threatening disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues. Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions and massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation. {ECO:0000269|PubMed:16960814, ECO:0000269|PubMed:18094730}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: MIRAGE syndrome (MIRAGE) [MIM:617053]: A form of syndromic adrenal hypoplasia characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. {ECO:0000269|PubMed:27182967}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Monosomy 7 myelodysplasia and leukemia syndrome 2 (M7MLS2) [MIM:619041]: A hematologic disorder manifesting in early childhood and characterized by bone marrow dyspoiesis, pancytopenia, myelodysplastic syndrome or acute myelogenous leukemia, associated with monosomy 7 in the bone marrow. Disease severity is highly variable. Inheritance is autosomal dominant with incomplete penetrance. {ECO:0000269|PubMed:30046003}. Note=The disease is caused by variants affecting the gene represented in this entry. Germline mutations in SAMD9 with a suppressive effect on the cell cycle are associated with somatic loss of the chromosome 7 harboring the mutant allele. This results in the deletion of several genes and predisposes to the development of myelodysplastic syndrome and acute myelogenous leukemia. {ECO:0000269|PubMed:30046003}.
uniprot
proteins
function
FUNCTION: Double-stranded nucleic acid binding that acts as an antiviral factor by playing an essential role in the formation of cytoplasmic antiviral granules (PubMed:25428864, PubMed:28157624). May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF signaling. Involved in the regulation of EGR1, in coordination with RGL2. May be involved in endosome fusion. {ECO:0000269|PubMed:16960814, ECO:0000269|PubMed:18094730, ECO:0000269|PubMed:21160498, ECO:0000269|PubMed:24029230, ECO:0000269|PubMed:25428864, ECO:0000269|PubMed:28157624}.
uniprot
proteins
mass_dalton
184281
uniprot
proteins
mutagenesis
MUTAGEN 198; /note="K->E: No defect in double-stranded nucleic acid binding but defective at inhibiting viral replication."; /evidence="ECO:0000269|PubMed:35046037"; MUTAGEN 214; /note="K->E: No defect in double-stranded nucleic acid binding but defective at inhibiting viral replication."; /evidence="ECO:0000269|PubMed:35046037"; MUTAGEN 257; /note="K->E: No defect in double-stranded nucleic acid binding but defective at inhibiting viral replication."; /evidence="ECO:0000269|PubMed:35046037
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16960814
uniprot
proteins
pubmed
17407603
uniprot
proteins
pubmed
18094730
uniprot
proteins
pubmed
21160498
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24029230
uniprot
proteins
pubmed
25428864
uniprot
proteins
pubmed
27182967
uniprot
proteins
pubmed
28157624
uniprot
proteins
pubmed
30046003
uniprot
proteins
pubmed
35046037
uniprot
proteins
sequence_length
1589
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16960814, ECO:0000269|PubMed:17407603, ECO:0000269|PubMed:25428864, ECO:0000269|PubMed:28157624}.
uniprot
proteins