Seroatlas · Human Serome Atlas

SASS6

Spindle assembly abnormal protein 6 homolog

Also known as: DKFZp761A078, FLJ22097, SAS-6, SAS6, SAS6_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q6UVJ0
Gene
SASS6
Ensembl
ENSG00000156876
Chromosome
1
Canonical length
657 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Vesicles,Primary cilium,Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [provided by RefSeq, Oct 2016]

Canonical amino-acid sequenceUniProt

657 residues, UniProt reviewed canonical sequence.

>Q6UVJ0|SASS6
     1  MSQVLFHQLV PLQVKCKDCE ERRVSIRMSI ELQSVSNPVH RKDLVIRLTD DTDPFFLYNL
    61  VISEEDFQSL KFQQGLLVDF LAFPQKFIDL LQQCTQEHAK EIPRFLLQLV SPAAILDNSP
   121  AFLNVVETNP FKHLTHLSLK LLPGNDVEIK KFLAGCLKCS KEEKLSLMQS LDDATKQLDF
   181  TRKTLAEKKQ ELDKLRNEWA SHTAALTNKH SQELTNEKEK ALQAQVQYQQ QHEQQKKDLE
   241  ILHQQNIHQL QNRLSELEAA NKDLTERKYK GDSTIRELKA KLSGVEEELQ RTKQEVLSLR
   301  RENSTLDVEC HEKEKHVNQL QTKVAVLEQE IKDKDQLVLR TKEAFDTIQE QKVVLEENGE
   361  KNQVQLGKLE ATIKSLSAEL LKANEIIKKL QGDLKTLMGK LKLKNTVTIQ QEKLLAEKEE
   421  KLQKEQKELQ DVGQSLRIKE QEVCKLQEQL EATVKKLEES KQLLKNNEKL ITWLNKELNE
   481  NQLVRKQDVL GPSTTPPAHS SSNTIRSGIS PNLNVVDGRL TYPTCGIGYP VSSAFAFQNT
   541  FPHSISAKNT SHPGSGTKVQ FNLQFTKPNA SLGDVQSGAT ISMPCSTDKE NGENVGLESK
   601  YLKKREDSIP LRGLSQNLFS NSDHQRDGTL GALHTSSKPT ALPSASSAYF PGQLPNS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SASS6 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)
0.51
Highest tissue expression
6.2 nTPM

Expression across tissuesHPA

Tissue

  • testis: 6.2 nTPM
  • bone marrow: 5.7 nTPM
  • retina: 5.3 nTPM
  • thymus: 4 nTPM
  • lymph node: 3.9 nTPM
  • parathyroid gland: 3.7 nTPM

Single-cell type

  • oocytes: 189 nCPM
  • early primary spermatocytes: 85 nCPM
  • erythrocyte progenitors: 67 nCPM
  • megakaryocyte progenitors: 53 nCPM
  • late primary spermatocytes: 48 nCPM
  • undifferentiated spermatogonia: 47 nCPM

Immune cell

  • basophil: 3.9 nTPM
  • memory B-cell: 1.6 nTPM
  • eosinophil: 1 nTPM
  • MAIT T-cell: 0.9 nTPM
  • T-reg: 0.9 nTPM
  • memory CD4 T-cell: 0.8 nTPM

Brain region

  • cerebellum: 2.8 nTPM
  • white matter: 2.2 nTPM
  • basal ganglia: 2.1 nTPM
  • midbrain: 2 nTPM
  • pons: 1.9 nTPM
  • medulla oblongata: 1.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SASS6.

Disease | AllUniProt

Conditions SASS6 is implicated in, by any mechanism.

  • Microcephaly 14, primary, autosomal recessive (MCPH14) MIM:616402

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 157 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.68
gnomAD pLI
0
gnomAD missense Z
1.01
DepMap mean gene effect
-0.81
DepMap dependency class
common

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Spindle assembly abnormal protein 6, N-terminal
  • SAS-6, N-terminal domain superfamily
  • SAS-6 coiled-coil domain
  • Centriolar protein SAS N-terminal domain
  • Sas6/XLF/XRCC4 coiled-coil domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SASS6 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 SASS6 as an antibody target. Whether an autoantibody or antibody against SASS6 could matter depends on whether native SASS6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SASS6 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 SASS6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SASS6. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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