SAMD9L

Protein identityUniProt · HPA

UniProt accession

Q8IVG5

Gene

SAMD9L

Ensembl

ENSG00000177409

Chromosome

7

Canonical length

1584 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Cytosol

OverviewNCBI Gene

This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

1584 residues, UniProt reviewed canonical sequence.

>Q8IVG5|SAMD9L
     1  MSKQVSLPEM IKDWTKEHVK KWVNEDLKIN EQYGQILLSE EVTGLVLQEL TEKDLVEMGL
    61  PWGPALLIKR SYNKLNSKSP ESDNHDPGQL DNSKPSKTEH QKNPKHTKKE EENSMSSNID
   121  YDPREIRDIK QEESILMKEN VLDEVANAKH KKKGKLKPEQ LTCMPYPFDQ FHDSHRYIEH
   181  YTLQPETGAL NLIDPIHEFK ALTNTETATE VDIKMKFSNE VFRFASACMN SRTNGTIHFG
   241  VKDKPHGEIV GVKITSKAAF IDHFNVMIKK YFEESEINEA KKCIREPRFV EVLLQNNTPS
   301  DRFVIEVDTI PKHSICNDKY FYIQMQICKD KIWKQNQNLS LFVREGASSR DILANSKQRD
   361  VDFKAFLQNL KSLVASRKEA EEEYGMKAMK KESEGLKLVK LLIGNRDSLD NSYYDWYILV
   421  TNKCHPNQIK HLDFLKEIKW FAVLEFDPES MINGVVKAYK ESRVANLHFP NQYEDKTTNM
   481  WEKISTLNLY QQPSWIFCNG RSDLKSETYK PLEPHLWQRE RASEVRKLIL FLTDENIMTR
   541  GKFLVVFLLL SSVESPGDPL IETFWAFYQA LKGMENMLCI SVNSHIYQRW KDLLQTRMKM
   601  EDELTNHSIS TLNIELVNST ILKLKSVTRS SRRFLPARGS SSVILEKKKE DVLTALEILC
   661  ENECTETDIE KDKSKFLEFK KSKEEHFYRG GKVSWWNFYF SSENYSSDFV KRDSYEKLKD
   721  LIHCWAESPK PIFAKIINLY HHPGCGGTTL AMHVLWDLKK NFRCAVLKNK TTDFAEIAEQ
   781  VINLVTYRAK SHQDYIPVLL LVDDFEEQEN VYFLQNAIHS VLAEKDLRYE KTLVIILNCM
   841  RSRNPDESAK LADSIALNYQ LSSKEQRAFG AKLKEIEKQH KNCENFYSFM IMKSNFDETY
   901  IENVVRNILK GQDVDSKEAQ LISFLALLSS YVTDSTISVS QCEIFLGIIY TSTPWEPESL
   961  EDKMGTYSTL LIKTEVAEYG RYTGVRIIHP LIALYCLKEL ERSYHLDKCQ IALNILEENL
  1021  FYDSGIGRDK FQHDVQTLLL TRQRKVYGDE TDTLFSPLME ALQNKDIEKV LSAGSRRFPQ
  1081  NAFICQALAR HFYIKEKDFN TALDWARQAK MKAPKNSYIS DTLGQVYKSE IKWWLDGNKN
  1141  CRSITVNDLT HLLEAAEKAS RAFKESQRQT DSKNYETENW SPQKSQRRYD MYNTACFLGE
  1201  IEVGLYTIQI LQLTPFFHKE NELSKKHMVQ FLSGKWTIPP DPRNECYLAL SKFTSHLKNL
  1261  QSDLKRCFDF FIDYMVLLKM RYTQKEIAEI MLSKKVSRCF RKYTELFCHL DPCLLQSKES
  1321  QLLQEENCRK KLEALRADRF AGLLEYLNPN YKDATTMESI VNEYAFLLQQ NSKKPMTNEK
  1381  QNSILANIIL SCLKPNSKLI QPLTTLKKQL REVLQFVGLS HQYPGPYFLA CLLFWPENQE
  1441  LDQDSKLIEK YVSSLNRSFR GQYKRMCRSK QASTLFYLGK RKGLNSIVHK AKIEQYFDKA
  1501  QNTNSLWHSG DVWKKNEVKD LLRRLTGQAE GKLISVEYGT EEKIKIPVIS VYSGPLRSGR
  1561  NIERVSFYLG FSIEGPLAYD IEVI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SAMD9L 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)

0.25

Highest tissue expression

34 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SAMD9L.

Disease | AllUniProt

Conditions SAMD9L is implicated in, by any mechanism.

• Ataxia-pancytopenia syndrome (ATXPC) MIM:159550
• Monosomy 7 myelodysplasia and leukemia syndrome 1 (M7MLS1) MIM:252270
• Spinocerebellar ataxia 49 (SCA49) MIM:619806

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 2,451 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Monosomy 7 myelodysplasia and leukemia syndrome 1
• Ataxia-pancytopenia syndrome
• SAMD9L-related disorder
• Intellectual disability
• interferonopathy

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)

0.78

gnomAD pLI

0

gnomAD missense Z

1.63

DepMap mean gene effect

-0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

• cytoplasm
• early endosome
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Sterile alpha motif domain
• Sterile alpha motif/pointed domain superfamily

KeywordsUniProt

• Endosome
• Mitochondrion
• Neurodegeneration
• Spinocerebellar ataxia

InteractionsUniProt · HPA

Protein binding partners of SAMD9L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• EEA1