Seroatlas · Human Serome Atlas

SALL4

Sal-like protein 4

Also known as: dJ1112F19.1, SALL4_HUMAN, ZNF797

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

Protein identityUniProt · HPA

UniProt accession: Q9UJQ4
Gene: SALL4
Ensembl: ENSG00000101115
Chromosome: 20
Canonical length: 1053 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Vesicles

OverviewNCBI Gene

This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

1053 residues, UniProt reviewed canonical sequence.

>Q9UJQ4|SALL4
     1  MSRRKQAKPQ HINSEEDQGE QQPQQQTPEF ADAAPAAPAA GELGAPVNHP GNDEVASEDE
    61  ATVKRLRREE THVCEKCCAE FFSISEFLEH KKNCTKNPPV LIMNDSEGPV PSEDFSGAVL
   121  SHQPTSPGSK DCHRENGGSS EDMKEKPDAE SVVYLKTETA LPPTPQDISY LAKGKVANTN
   181  VTLQALRGTK VAVNQRSADA LPAPVPGANS IPWVLEQILC LQQQQLQQIQ LTEQIRIQVN
   241  MWASHALHSS GAGADTLKTL GSHMSQQVSA AVALLSQKAG SQGLSLDALK QAKLPHANIP
   301  SATSSLSPGL APFTLKPDGT RVLPNVMSRL PSALLPQAPG SVLFQSPFST VALDTSKKGK
   361  GKPPNISAVD VKPKDEAALY KHKCKYCSKV FGTDSSLQIH LRSHTGERPF VCSVCGHRFT
   421  TKGNLKVHFH RHPQVKANPQ LFAEFQDKVA AGNGIPYALS VPDPIDEPSL SLDSKPVLVT
   481  TSVGLPQNLS SGTNPKDLTG GSLPGDLQPG PSPESEGGPT LPGVGPNYNS PRAGGFQGSG
   541  TPEPGSETLK LQQLVENIDK ATTDPNECLI CHRVLSCQSS LKMHYRTHTG ERPFQCKICG
   601  RAFSTKGNLK THLGVHRTNT SIKTQHSCPI CQKKFTNAVM LQQHIRMHMG GQIPNTPLPE
   661  NPCDFTGSEP MTVGENGSTG AICHDDVIES IDVEEVSSQE APSSSSKVPT PLPSIHSASP
   721  TLGFAMMASL DAPGKVGPAP FNLQRQGSRE NGSVESDGLT NDSSSLMGDQ EYQSRSPDIL
   781  ETTSFQALSP ANSQAESIKS KSPDAGSKAE SSENSRTEME GRSSLPSTFI RAPPTYVKVE
   841  VPGTFVGPST LSPGMTPLLA AQPRRQAKQH GCTRCGKNFS SASALQIHER THTGEKPFVC
   901  NICGRAFTTK GNLKVHYMTH GANNNSARRG RKLAIENTMA LLGTDGKRVS EIFPKEILAP
   961  SVNVDPVVWN QYTSMLNGGL AVKTNEISVI QSGGVPTLPV SLGATSVVNN ATVSKMDGSQ
  1021  SGISADVEKP SATDGVPKHQ FPHFLEENKI AVS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SALL4 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: 5.6 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 5.6 nTPM
testis: 3.8 nTPM
prostate: 2.3 nTPM
pancreas: 2 nTPM
parathyroid gland: 1.9 nTPM
liver: 1.5 nTPM

Single-cell type

retinal horizontal cells: 30 nCPM
sertoli cells: 23 nCPM
adrenal medulla cells: 21 nCPM
pancreatic duct cells: 11 nCPM
undifferentiated spermatogonia: 11 nCPM
gastric progenitor cells: 10 nCPM

Immune cell

NK-cell: 2.5 nTPM
neutrophil: 0.2 nTPM
basophil: 0.1 nTPM
gdT-cell: 0.1 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM

Brain region

hypothalamus: 1.1 nTPM
white matter: 1.1 nTPM
cerebellum: 1 nTPM
choroid plexus: 0.9 nTPM
midbrain: 0.9 nTPM
cerebral cortex: 0.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SALL4.

Disease | AllUniProt

Conditions SALL4 is implicated in, by any mechanism.

Duane-radial ray syndrome (DRRS) MIM:607323
IVIC syndrome (IVIC) MIM:147750

Disease | GeneticClinVar

58 pathogenic / likely-pathogenic of 602 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Duane-radial ray syndrome
SALL4-Related Disorders
Oculootoradial syndrome
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Congenital anomaly of kidney and urinary tract

Disease | ImmuneIEDB

Conditions an epitope on SALL4 was assayed in.

gastrointestinal carcinoma T cell

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): 0.1
gnomAD pLI: 1
gnomAD missense Z: 1.08
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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 SALL4 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 SALL4 as an antibody target. Whether an autoantibody or antibody against SALL4 could matter depends on whether native SALL4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SALL4 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 SALL4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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