Seroatlas · Human Serome Atlas

SAMD9

Sterile alpha motif domain-containing protein 9

Also known as: C7orf5, FLJ20073, KIAA2004, SAMD9_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5K651
Gene: SAMD9
Ensembl: ENSG00000205413
Chromosome: 7
Canonical length: 1589 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Vesicles,Cytosol

OverviewNCBI Gene

This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010]

Canonical amino-acid sequenceUniProt

1589 residues, UniProt reviewed canonical sequence.

>Q5K651|SAMD9
     1  MAKQLNLPEN TDDWTKEDVN QWLESHKIDQ KHREILTEQD VNGAVLKWLK KEHLVDMGIT
    61  HGPAIQIEEL FKELRKTAIE DSIQTSKMGK PSKNAPKDQT VSQKERRETS KQKQKGKENP
   121  DMANPSAMST TAKGSKSLKV ELIEDKIDYT KERQPSIDLT CVSYPFDEFS NPYRYKLDFS
   181  LQPETGPGNL IDPIHEFKAF TNTATATEED VKMKFSNEVF RFASACMNSR TNGTIHFGVK
   241  DKPHGKIVGI KVTNDTKEAL INHFNLMINK YFEDHQVQQA KKCIREPRFV EVLLPNSTLS
   301  DRFVIEVDII PQFSECQYDY FQIKMQNYNN KIWEQSKKFS LFVRDGTSSK DITKNKVDFR
   361  AFKADFKTLA ESRKAAEEKF RAKTNKKERE GPKLVKLLTG NQDLLDNSYY EQYILVTNKC
   421  HPDQTKHLDF LKEIKWFAVL EFDPESNING VVKAYKESRV ANLHFPSVYV EQKTTPNETI
   481  STLNLYHQPS WIFCNGRLDL DSEKYKPFDP SSWQRERASD VRKLISFLTH EDIMPRGKFL
   541  VVFLLLSSVD DPRDPLIETF CAFYQDLKGM ENILCICVHP HIFQGWKDLL EARLIKHQDE
   601  ISSQCISALS LEEINGTILK LKSVTQSSKR LLPSIGLSTV LLKKEEDIMT ALEIICENEC
   661  EGTLLEKDKN KFLEFKASKE EDFYRGGKVS WWNFYFSSES YSSPFVKRDK YERLEAMIQN
   721  CADSSKPTST KIIHLYHHPG CGGTTLAMHI LWELRKKFRC AVLKNKTVDF SEIGEQVTSL
   781  ITYGAMNRQE YVPVLLLVDD FEEQDNVYLL QYSIQTAIAK KYIRYEKPLV IILNCMRSQN
   841  PEKSARIPDS IAVIQQLSPK EQRAFELKLK EIKEQHKNFE DFYSFMIMKT NFNKEYIENV
   901  VRNILKGQNI FTKEAKLFSF LALLNSYVPD TTISLSQCEK FLGIGNKKAF WGTEKFEDKM
   961  GTYSTILIKT EVIECGNYCG VRIIHSLIAE FSLEELKKSY HLNKSQIMLD MLTENLFFDT
  1021  GMGKSKFLQD MHTLLLTRHR DEHEGETGNW FSPFIEALHK DEGNEAVEAV LLESIHRFNP
  1081  NAFICQALAR HFYIKKKDFG NALNWAKQAK IIEPDNSYIS DTLGQVYKSK IRWWIEENGG
  1141  NGNISVDDLI ALLDLAEHAS SAFKESQQQS EDREYEVKER LYPKSKRRYD TYNIAGYQGE
  1201  IEVGLYTIQI LQLIPFFDNK NELSKRYMVN FVSGSSDIPG DPNNEYKLAL KNYIPYLTKL
  1261  KFSLKKSFDF FDEYFVLLKP RNNIKQNEEA KTRRKVAGYF KKYVDIFCLL EESQNNTGLG
  1321  SKFSEPLQVE RCRRNLVALK ADKFSGLLEY LIKSQEDAIS TMKCIVNEYT FLLEQCTVKI
  1381  QSKEKLNFIL ANIILSCIQP TSRLVKPVEK LKDQLREVLQ PIGLTYQFSE PYFLASLLFW
  1441  PENQQLDQHS EQMKEYAQAL KNSFKGQYKH MHRTKQPIAY FFLGKGKRLE RLVHKGKIDQ
  1501  CFKKTPDINS LWQSGDVWKE EKVQELLLRL QGRAENNCLY IEYGINEKIT IPITPAFLGQ
  1561  LRSGRSIEKV SFYLGFSIGG PLAYDIEIV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SAMD9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 37 nTPM

Expression across tissuesHPA

Tissue

esophagus: 37 nTPM
thymus: 19 nTPM
spleen: 17 nTPM
tonsil: 15 nTPM
lymph node: 15 nTPM
appendix: 13 nTPM

Single-cell type

esophageal apical cells: 1,777 nCPM
esophageal suprabasal cells: 180 nCPM
foveolar cells: 94 nCPM
ocular epithelial cells: 92 nCPM
nk-cells: 89 nCPM
neutrophils: 79 nCPM

Immune cell

basophil: 22 nTPM
neutrophil: 18 nTPM
eosinophil: 16 nTPM
non-classical monocyte: 13 nTPM
T-reg: 8.9 nTPM
NK-cell: 8.8 nTPM

Brain region

spinal cord: 6.1 nTPM
medulla oblongata: 5.9 nTPM
white matter: 5.3 nTPM
thalamus: 4.5 nTPM
pons: 4.2 nTPM
hypothalamus: 3.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SAMD9.

Disease | AllUniProt

Conditions SAMD9 is implicated in, by any mechanism.

Tumoral calcinosis, normophosphatemic, familial (NFTC) MIM:610455
MIRAGE syndrome (MIRAGE) MIM:617053
Monosomy 7 myelodysplasia and leukemia syndrome 2 (M7MLS2) MIM:619041

Disease | GeneticClinVar

34 pathogenic / likely-pathogenic of 2,603 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

MIRAGE syndrome
Monosomy 7 myelodysplasia and leukemia syndrome 2
Inborn genetic diseases
Normophosphatemic familial tumoral calcinosis
Hereditary cancer-predisposing syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.24
gnomAD pLI: 0
gnomAD missense Z: 0.77
DepMap mean gene effect: 0.07
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SAMD9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SAMD9 as an antibody target. Whether an autoantibody or antibody against SAMD9 could matter depends on whether native SAMD9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SAMD9 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SAMD9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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