Seroatlas · Human Serome Atlas

SALL3

Sal-like protein 3

Also known as: SALL3_HUMAN, ZNF796

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

Protein identityUniProt · HPA

UniProt accession: Q9BXA9
Gene: SALL3
Ensembl: ENSG00000256463
Chromosome: 18
Canonical length: 1300 aa
Protein class: Plasma proteins, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]

Canonical amino-acid sequenceUniProt

1300 residues, UniProt reviewed canonical sequence.

>Q9BXA9|SALL3
     1  MSRRKQAKPQ HLKSDEELLP PDGAPEHAAP GEGAEDADSG PESRSGGEET SVCEKCCAEF
    61  FKWADFLEHQ RSCTKLPPVL IVHEDAPAPP PEDFPEPSPA SSPSERAESE AAEEAGAEGA
   121  EGEARPVEKE AEPMDAEPAG DTRAPRPPPA APAPPTPAYG APSTNVTLEA LLSTKVAVAQ
   181  FSQGARAAGG SGAGGGVAAA AVPLILEQLM ALQQQQIHQL QLIEQIRSQV ALMQRPPPRP
   241  SLSPAAAPSA PGPAPSQLPG LAALPLSAGA PAAAIAGSGP AAPAAFEGAQ PLSRPESGAS
   301  TPGGPAEPSA PAAPSAAPAP AAPAPAPAPQ SAASSQPQSA STPPALAPGS LLGAAPGLPS
   361  PLLPQTSASG VIFPNPLVSI AATANALDPL SALMKHRKGK PPNVSVFEPK ASAEDPFFKH
   421  KCRFCAKVFG SDSALQIHLR SHTGERPFKC NICGNRFSTK GNLKVHFQRH KEKYPHIQMN
   481  PYPVPEYLDN VPTCSGIPYG MSLPPEKPVT TWLDSKPVLP TVPTSVGLQL PPTVPGAHGY
   541  ADSPSATPAS RSPQRPSPAS SECASLSPGL NHVESGVSAT AESPQSLLGG PPLTKAEPVS
   601  LPCTNARAGD APVGAQASAA PTSVDGAPTS LGSPGLPAVS EQFKAQFPFG GLLDSMQTSE
   661  TSKLQQLVEN IDKKMTDPNQ CVICHRVLSC QSALKMHYRT HTGERPFKCK ICGRAFTTKG
   721  NLKTHFGVHR AKPPLRVQHS CPICQKKFTN AVVLQQHIRM HMGGQIPNTP LPEGFQDAMD
   781  SELAYDDKNA ETLSSYDDDM DENSMEDDAE LKDAATDPAK PLLSYAGSCP PSPPSVISSI
   841  AALENQMKMI DSVMSCQQLT GLKSVENGSG ESDRLSNDSS SAVGDLESRS AGSPALSESS
   901  SSQALSPAPS NGESFRSKSP GLGAPEEPQE IPLKTERPDS PAAAPGSGGA PGRAGIKEEA
   961  PFSLLFLSRE RGKCPSTVCG VCGKPFACKS ALEIHYRSHT KERPFVCALC RRGCSTMGNL
  1021  KQHLLTHRLK ELPSQLFDPN FALGPSQSTP SLISSAAPTM IKMEVNGHGK AMALGEGPPL
  1081  PAGVQVPAGP QTVMGPGLAP MLAPPPRRTP KQHNCQSCGK TFSSASALQI HERTHTGEKP
  1141  FGCTICGRAF TTKGNLKVHM GTHMWNNAPA RRGRRLSVEN PMALLGGDAL KFSEMFQKDL
  1201  AARAMNVDPS FWNQYAAAIT NGLAMKNNEI SVIQNGGIPQ LPVSLGGSAL PPLGSMASGM
  1261  DKARTGSSPP IVSLDKASSE TAASRPFTRF IEDNKEIGIN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SALL3 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): 0.64
Highest tissue expression: 8.5 nTPM

Expression across tissuesHPA

Tissue

basal ganglia: 8.5 nTPM
amygdala: 8 nTPM
spinal cord: 7.9 nTPM
cerebral cortex: 6.8 nTPM
vagina: 6.8 nTPM
midbrain: 6 nTPM

Single-cell type

distal convoluted tubule cells: 128 nCPM
oligodendrocyte progenitor cells: 73 nCPM
astrocytes: 62 nCPM
ependymal cells: 34 nCPM
renal connecting tubule cells: 30 nCPM
oligodendrocytes: 7.7 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

spinal cord: 12 nTPM
medulla oblongata: 11 nTPM
hypothalamus: 8.9 nTPM
white matter: 7.3 nTPM
midbrain: 7.1 nTPM
pons: 7.1 nTPM

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): 0.44
gnomAD pLI: 0.4
gnomAD missense Z: 0.31
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

nucleus

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SALL3 as an antibody target. Whether an autoantibody or antibody against SALL3 could matter depends on whether native SALL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SALL3 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 SALL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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