Seroatlas · Human Serome Atlas

SLX4

Structure-specific endonuclease subunit SLX4

Also known as: BTBD12, FANCP, KIAA1784, KIAA1987, SLX4_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8IY92
Gene: SLX4
Ensembl: ENSG00000188827
Chromosome: 16
Canonical length: 1834 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [provided by RefSeq, Sep 2016]

Canonical amino-acid sequenceUniProt

1834 residues, UniProt reviewed canonical sequence.

>Q8IY92|SLX4
     1  MKLSVNEAQL GFYLGSLSHL SACPGIDPRS SEDQPESLKT GQMMDESDED FKELCASFFQ
    61  RVKKHGIKEV SGERKTQKAA SNGTQIRSKL KRTKQTATKT KTLQGPAEKK PPSGSQAPRT
   121  KKQRVTKWQA SEPAHSVNGE GGVLASAPDP PVLRETAQNT QTGNQQEPSP NLSREKTREN
   181  VPNSDSQPPP SCLTTAVPSP SKPRTAQLVL QRMQQFKRAD PERLRHASEE CSLEAAREEN
   241  VPKDPQEEMM AGNVYGLGPP APESDAAVAL TLQQEFARVG ASAHDDSLEE KGLFFCQICQ
   301  KNLSAMNVTR REQHVNRCLD EAEKTLRPSV PQIPECPICG KPFLTLKSRT SHLKQCAVKM
   361  EVGPQLLLQA VRLQTAQPEG SSSPPMFSFS DHSRGLKRRG PTSKKEPRKR RKVDEAPSED
   421  LLVAMALSRS EMEPGAAVPA LRLESAFSER IRPEAENKSR KKKPPVSPPL LLVQDSETTG
   481  RQIEDRVALL LSEEVELSST PPLPASRILK EGWERAGQCP PPPERKQSFL WEGSALTGAW
   541  AMEDFYTARL VPPLVPQRPA QGLMQEPVPP LVPPEHSELS ERRSPALHGT PTAGCGSRGP
   601  SPSASQREHQ ALQDLVDLAR EGLSASPWPG SGGLAGSEGT AGLDVVPGGL PLTGFVVPSQ
   661  DKHPDRGGRT LLSLGLLVAD FGAMVNNPHL SDVQFQTDSG EVLYAHKFVL YARCPLLIQY
   721  VNNEGFSAVE DGVLTQRVLL GDVSTEAART FLHYLYTADT GLPPGLSSEL SSLAHRFGVS
   781  ELVHLCEQVP IATDSEGKPW EEKEAENCES RAENFQELLR SMWADEEEEA ETLLKSKDHE
   841  EDQENVNEAE MEEIYEFAAT QRKLLQEERA AGAGEDADWL EGGSPVSGQL LAGVQVQKQW
   901  DKVEEMEPLE PGRDEAATTW EKMGQCALPP PQGQHSGARG AEAPEQEAPE EALGHSSCSS
   961  PSRDCQAERK EGSLPHSDDA GDYEQLFSST QGEISEPSQI TSEPEEQSGA VRERGLEVSH
  1021  RLAPWQASPP HPCRFLLGPP QGGSPRGSHH TSGSSLSTPR SRGGTSQVGS PTLLSPAVPS
  1081  KQKRDRSILT LSKEPGHQKG KERRSVLECR NKGVLMFPEK SPSIDLTQSN PDHSSSRSQK
  1141  SSSKLNEEDE VILLLDSDEE LELEQTKMKS ISSDPLEEKK ALEISPRSCE LFSIIDVDAD
  1201  QEPSQSPPRS EAVLQQEDEG ALPENRGSLG RRGAPWLFCD RESSPSEAST TDTSWLVPAT
  1261  PLASRSRDCS SQTQISSLRS GLAVQAVTQH TPRASVGNRE GNEVAQKFSV IRPQTPPPQT
  1321  PSSCLTPVSP GTSDGRRQGH RSPSRPHPGG HPHSSPLAPH PISGDRAHFS RRFLKHSPPG
  1381  PSFLNQTPAG EVVEVGDSDD EQEVASHQAN RSPPLDSDPP IPIDDCCWHM EPLSPIPIDH
  1441  WNLERTGPLS TSSPSRRMNE AADSRDCRSP GLLDTTPIRG SCTTQRKLQE KSSGAGSLGN
  1501  SRPSFLNSAL WDVWDGEEQR PPETPPPAQM PSAGGAQKPE GLETPKGANR KKNLPPKVPI
  1561  TPMPQYSIME TPVLKKELDR FGVRPLPKRQ MVLKLKEIFQ YTHQTLDSDS EDESQSSQPL
  1621  LQAPHCQTLA SQTYKPSRAG VHAQQEATTG PGAHRPKGPA KTKGPRHQRK HHESITPPSR
  1681  SPTKEAPPGL NDDAQIPASQ ESVATSVDGS DSSLSSQSSS SCEFGAAFES AGEEEGEGEV
  1741  SASQAAVQAA DTDEALRCYI RSKPALYQKV LLYQPFELRE LQAELRQNGL RVSSRRLLDF
  1801  LDTHCITFTT AATRREKLQG RRRQPRGKKK VERN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLX4 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): 0.61
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 14 nTPM
testis: 10 nTPM
cerebral cortex: 4.2 nTPM
lymph node: 3.8 nTPM
pituitary gland: 3.7 nTPM
spleen: 3.3 nTPM

Single-cell type

platelets: 75 nCPM
early primary spermatocytes: 25 nCPM
late primary spermatocytes: 19 nCPM
brain excitatory neurons: 19 nCPM
retinal ganglion cells: 16 nCPM
cardiomyocytes: 15 nCPM

Immune cell

basophil: 0.5 nTPM
non-classical monocyte: 0.2 nTPM
gdT-cell: 0.1 nTPM
naive B-cell: 0.1 nTPM
NK-cell: 0.1 nTPM
total PBMC: 0.1 nTPM

Brain region

cerebellum: 19 nTPM
cerebral cortex: 9.8 nTPM
medulla oblongata: 8.9 nTPM
hippocampal formation: 8.7 nTPM
amygdala: 8.6 nTPM
midbrain: 8.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLX4.

Disease | AllUniProt

Conditions SLX4 is implicated in, by any mechanism.

Fanconi anemia complementation group P (FANCP) MIM:613951

Disease | GeneticClinVar

157 pathogenic / likely-pathogenic of 2,649 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Fanconi anemia
Fanconi anemia complementation group P
Fanconi anemia complementation group A
SLX4-related disorder
Glioblastoma multiforme

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): 0.87
gnomAD pLI: 0
gnomAD missense Z: -1.88
DepMap mean gene effect: -0.36
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

BTB/POZ domain
Rad18, zinc finger UBZ4-type
SKP1/BTB/POZ domain superfamily
BTB/POZ domain
Structure-specific endonuclease subunit Slx4, HTH domain
Slx4 endonuclease

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLX4 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 SLX4 as an antibody target. Whether an autoantibody or antibody against SLX4 could matter depends on whether native SLX4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLX4 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 SLX4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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