Seroatlas · Human Serome Atlas

SKIC3

Superkiller complex protein 3

Also known as: KIAA0372, SKI3, SKI3_HUMAN, THES, TTC37

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

Protein identityUniProt · HPA

UniProt accession: Q6PGP7
Gene: SKIC3
Ensembl: ENSG00000198677
Chromosome: 5
Canonical length: 1564 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]

Canonical amino-acid sequenceUniProt

1564 residues, UniProt reviewed canonical sequence.

>Q6PGP7|SKIC3
     1  MSSKEVKTAL KSARDAIRNK EYKEALKHCK TVLKQEKNNY NAWVFIGVAA AELEQPDQAQ
    61  SAYKKAAELE PDQLLAWQGL ANLYEKYNHI NAKDDLPGVY QKLLDLYESV DKQKWCDVCK
   121  KLVDLYYQEK KHLEVARTWH KLIKTRQEQG AENEELHQLW RKLTQFLAES TEDQNNETQQ
   181  LLFTAFENAL GLSDKIPSED HQVLYRHFIQ SLSKFPHESA RLKKACEGMI NIYPTVQYPL
   241  EVLCLHLIES GNLTDEGQQY CCRLVEMDSK SGPGLIGLGI KALQDKKYED AVRNLTEGLK
   301  ESPVCTSGWY HLAEAQVKMH RPKEAVLSCS QALKIVDNLG ASGNSLYQRN LCLHLKAEAL
   361  IKLSDYDSSE EAIRTLDQIS DADNIPGLLV LKSLAYRNKG SFDEAAKIME DLLSSYPDLA
   421  EVHALEALIH FTKKDYLQAE KCFQRALEKD TEVAEYHYQL GLTYWFMGEE TRKDKTKALT
   481  HFLKAARLDT YMGKVFCYLG HYYRDVVGDK NRARGCYRKA FELDDTDAES GAAAVDLSVE
   541  LEDMEMALAI LTTVTQKASA GTAKWAWLRR GLYYLKAGQH SQAVADLQAA LRADPKDFNC
   601  WESLGEAYLS RGGYTTALKS FTKASELNPE SIYSVFKVAA IQQILGKYKE AVAQYQMIIK
   661  KKEDYVPALK GLGECHLMMA KAALVDYLDG KAVDYIEKAL EYFTCALQHR ADVSCLWKLA
   721  GDACTCLYAV APSKVNVHVL GVLLGQKEGK QVLKKNELLH LGGRCYGRAL KLMSTSNTWC
   781  DLGINYYRQA QHLAETGSNM NDLKELLEKS LHCLKKAVRL DSNNHLYWNA LGVVACYSGI
   841  GNYALAQHCF IKSIQSEQIN AVAWTNLGVL YLTNENIEQA HEAFKMAQSL DPSYLMCWIG
   901  QALIAEAVGS YDTMDLFRHT TELNMHTEGA LGYAYWVCTT LQDKSNRETE LYQYNILQMN
   961  AIPAAQVILN KYVERIQNYA PAFTMLGYLN EHLQLKKEAA NAYQRAILLL QTAEDQDTYN
  1021  VAIRNYGRLL CSTGEYDKAI QAFKSTPLEV LEDIIGFALA LFMKGLYKES SKAYERALSI
  1081  VESEQDKAHI LTALAITEYK QGKTDVAKTL LFKCSILKEP TTESLQALCA LGLAMQDATL
  1141  SKAALNELLK HIKHKDSNYQ RCLLTSAIYA LQGRSVAVQK QISKAVHSNP GDPALWSLLS
  1201  RVVAQYAQRN AKGGVVAGNV AHILDSNHGK KALLYTAVNQ LAMGSSSAED EKNTALKTIQ
  1261  KAALLSPGDP AIWAGLMAAC HADDKLALVN NTQPKRIDLY LALLSAVSAS IKDEKFFENY
  1321  NQSLEKWSLS QAVTGLIDTG RISEAETLCT KNLKSNPDQP AVILLLRQVQ CKPLLESQKP
  1381  LPDAVLEELQ KTVMSNSTSV PAWQWLAHVY QSQGMMRAAE MCYRKSLQLA SQRGSWSGKL
  1441  SSLLRLALLA LKVCMANISN DHWPSLVQEA TTEALKLCFC PLAVLLQALL QFKRKMGARE
  1501  TRRLLERVVY QPGYPKSIAS TARWYLLRHL YAKDDYELID VLVNNAKTHG DTRALELNQR
  1561  LSSQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SKIC3 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): 0.26
Highest tissue expression: 41 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 41 nTPM
cerebellum: 33 nTPM
skeletal muscle: 28 nTPM
tongue: 27 nTPM
kidney: 24 nTPM
skin: 24 nTPM

Single-cell type

corticotrophs: 294 nCPM
lactotrophs: 250 nCPM
prostatic glandular cells: 238 nCPM
thyrotrophs: 222 nCPM
retinal ganglion cells: 205 nCPM
somatotrophs: 199 nCPM

Immune cell

plasmacytoid DC: 11 nTPM
naive CD8 T-cell: 6.3 nTPM
naive B-cell: 6.2 nTPM
MAIT T-cell: 5.8 nTPM
memory CD4 T-cell: 5.6 nTPM
gdT-cell: 5.4 nTPM

Brain region

pons: 13 nTPM
cerebellum: 13 nTPM
medulla oblongata: 13 nTPM
hypothalamus: 12 nTPM
white matter: 11 nTPM
midbrain: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SKIC3.

Disease | AllUniProt

Conditions SKIC3 is implicated in, by any mechanism.

Trichohepatoenteric syndrome 1 (THES1) MIM:222470

Disease | GeneticClinVar

174 pathogenic / likely-pathogenic of 1,605 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Trichohepatoenteric syndrome 1
Trichohepatoenteric syndrome
SKIC3-related disorder
Inherited Immunodeficiency Diseases
Fetal anomalies with a likely genetic cause

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
DepMap mean gene effect: -0.25
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SKIC3 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 SKIC3 as an antibody target. Whether an autoantibody or antibody against SKIC3 could matter depends on whether native SKIC3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SKIC3 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 SKIC3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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