Seroatlas · Human Serome Atlas

SALL1

Sal-like protein 1

Also known as: Hsal1, SALL1_HUMAN, TBS, ZNF794

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

Protein identityUniProt · HPA

UniProt accession: Q9NSC2
Gene: SALL1
Ensembl: ENSG00000103449
Chromosome: 16
Canonical length: 1324 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Nucleoli,Nuclear speckles,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1324 residues, UniProt reviewed canonical sequence.

>Q9NSC2|SALL1
     1  MSRRKQAKPQ HFQSDPEVAS LPRRDGDTEK GQPSRPTKSK DAHVCGRCCA EFFELSDLLL
    61  HKKNCTKNQL VLIVNENPAS PPETFSPSPP PDNPDEQMND TVNKTDQVDC SDLSEHNGLD
   121  REESMEVEAP VANKSGSGTS SGSHSSTAPS SSSSSSSSSG GGGSSSTGTS AITTSLPQLG
   181  DLTTLGNFSV INSNVIIENL QSTKVAVAQF SQEARCGGAS GGKLAVPALM EQLLALQQQQ
   241  IHQLQLIEQI RHQILLLASQ NADLPTSSSP SQGTLRTSAN PLSTLSSHLS QQLAAAAGLA
   301  QSLASQSASI SGVKQLPPIQ LPQSSSGNTI IPSNSGSSPN MNILAAAVTT PSSEKVASSA
   361  GASHVSNPAV SSSSSPAFAI SSLLSPASNP LLPQQASANS VFPSPLPNIG TTAEDLNSLS
   421  ALAQQRKSKP PNVTAFEAKS TSDEAFFKHK CRFCAKVFGS DSALQIHLRS HTGERPFKCN
   481  ICGNRFSTKG NLKVHFQRHK EKYPHIQMNP YPVPEHLDNI PTSTGIPYGM SIPPEKPVTS
   541  WLDTKPVLPT LTTSVGLPLP PTLPSLIPFI KTEEPAPIPI SHSATSPPGS VKSDSGGPES
   601  ATRNLGGLPE EAEGSTLPPS GGKSEESGMV TNSVPTASSS VLSSPAADCG PAGSATTFTN
   661  PLLPLMSEQF KAKFPFGGLL DSAQASETSK LQQLVENIDK KATDPNECII CHRVLSCQSA
   721  LKMHYRTHTG ERPFKCKICG RAFTTKGNLK THYSVHRAMP PLRVQHSCPI CQKKFTNAVV
   781  LQQHIRMHMG GQIPNTPVPD SYSESMESDT GSFDEKNFDD LDNFSDENME DCPEGSIPDT
   841  PKSADASQDS LSSSPLPLEM SSIAALENQM KMINAGLAEQ LQASLKSVEN GSIEGDVLTN
   901  DSSSVGGDME SQSAGSPAIS ESTSSMQALS PSNSTQEFHK SPSIEEKPQR AVPSEFANGL
   961  SPTPVNGGAL DLTSSHAEKI IKEDSLGILF PFRDRGKFKN TACDICGKTF ACQSALDIHY
  1021  RSHTKERPFI CTVCNRGFST KGNLKQHMLT HQMRDLPSQL FEPSSNLGPN QNSAVIPANS
  1081  LSSLIKTEVN GFVHVSPQDS KDTPTSHVPS GPLSSSATSP VLLPALPRRT PKQHYCNTCG
  1141  KTFSSSSALQ IHERTHTGEK PFACTICGRA FTTKGNLKVH MGTHMWNSTP ARRGRRLSVD
  1201  GPMTFLGGNP VKFPEMFQKD LAARSGSGDP SSFWNQYAAA LSNGLAMKAN EISVIQNGGI
  1261  PPIPGSLGSG NSSPVSGLTG NLERLQNSEP NAPLAGLEKM ASSENGTNFR FTRFVEDSKE
  1321  IVTS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SALL1 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): 0.63
Highest tissue expression: 34 nTPM

Expression across tissuesHPA

Tissue

liver: 34 nTPM
kidney: 32 nTPM
spinal cord: 28 nTPM
thyroid gland: 22 nTPM
cervix: 19 nTPM
cerebral cortex: 17 nTPM

Single-cell type

microglia: 85 nCPM
pituitary stem cells: 74 nCPM
loop of henle epithelial cells: 54 nCPM
hepatocytes: 45 nCPM
proximal tubule cells: 42 nCPM
oligodendrocytes: 41 nCPM

Immune cell

classical monocyte: 0.6 nTPM
eosinophil: 0.5 nTPM
intermediate monocyte: 0.4 nTPM
myeloid DC: 0.4 nTPM
plasmacytoid DC: 0.4 nTPM
neutrophil: 0.3 nTPM

Brain region

medulla oblongata: 85 nTPM
white matter: 75 nTPM
midbrain: 64 nTPM
spinal cord: 63 nTPM
cerebellum: 59 nTPM
pons: 58 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SALL1.

Disease | AllUniProt

Conditions SALL1 is implicated in, by any mechanism.

Townes-Brocks syndrome 1 (TBS1) MIM:107480

Disease | GeneticClinVar

124 pathogenic / likely-pathogenic of 759 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Townes-Brocks syndrome 1
Townes syndrome
SALL1-related disorder
Townes-Brocks-branchiootorenal-like syndrome
Inborn genetic diseases

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): 0.2
gnomAD pLI: 1
gnomAD missense Z: 0.72
DepMap mean gene effect: -0.09
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

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SALL1 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 SALL1 as an antibody target. Whether an autoantibody or antibody against SALL1 could matter depends on whether native SALL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SALL1 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 SALL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...