Seroatlas · Human Serome Atlas

SIX5

Homeobox protein SIX5

Also known as: DMAHP, SIX5_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8N196
Gene: SIX5
Ensembl: ENSG00000177045
Chromosome: 19
Canonical length: 739 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Golgi apparatus,Vesicles,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]

Canonical amino-acid sequenceUniProt

739 residues, UniProt reviewed canonical sequence.

>Q8N196|SIX5
     1  MATLPAEPSA GPAAGGEAVA AAAATEEEEE EARQLLQTLQ AAEGEAAAAA GAGAGAAAAG
    61  AEGPGSPGVP GSPPEAASEP PTGLRFSPEQ VACVCEALLQ AGHAGRLSRF LGALPPAERL
   121  RGSDPVLRAR ALVAFQRGEY AELYRLLESR PFPAAHHAFL QDLYLRARYH EAERARGRAL
   181  GAVDKYRLRK KFPLPKTIWD GEETVYCFKE RSRAALKACY RGNRYPTPDE KRRLATLTGL
   241  SLTQVSNWFK NRRQRDRTGA GGGAPCKSES DGNPTTEDES SRSPEDLERG AAPVSAEAAA
   301  QGSIFLAGTG PPAPCPASSS ILVNGSFLAA SGSPAVLLNG GPVIINGLAL GEASSLGPLL
   361  LTGGGGAPPP QPSPQGASET KTSLVLDPQT GEVRLEEAQS EAPETKGAQV AAPGPALGEE
   421  VLGPLAQVVP GPPTAATFPL PPGPVPAVAA PQVVPLSPPP GYPTGLSPTS PLLNLPQVVP
   481  TSQVVTLPQA VGPLQLLAAG PGSPVKVAAA AGPANVHLIN SGVGVTALQL PSATAPGNFL
   541  LANPVSGSPI VTGVALQQGK IILTATFPTS MLVSQVLPPA PGLALPLKPE TAISVPEGGL
   601  PVAPSPALPE AHALGTLSAQ QPPPAAATTS STSLPFSPDS PGLLPNFPAP PPEGLMLSPA
   661  AVPVWSAGLE LSAGTEGLLE AEKGLGTQAP HTVLRLPDPD PEGLLLGATA GGEVDEGLEA
   721  EAKVLTQLQS VPVEEPLEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SIX5 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): 0.6
Highest tissue expression: 38 nTPM

Expression across tissuesHPA

Tissue

ovary: 38 nTPM
pancreas: 35 nTPM
cervix: 34 nTPM
endometrium: 31 nTPM
fallopian tube: 31 nTPM
colon: 30 nTPM

Single-cell type

epididymal basal cells: 21 nCPM
extravillous trophoblasts: 20 nCPM
hepatic stellate cells: 19 nCPM
endometrial secretory cells: 19 nCPM
leydig cells: 18 nCPM
breast lactating cells: 18 nCPM

Immune cell

gdT-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

choroid plexus: 19 nTPM
medulla oblongata: 14 nTPM
midbrain: 13 nTPM
spinal cord: 11 nTPM
thalamus: 9.3 nTPM
amygdala: 8.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SIX5.

Disease | AllUniProt

Conditions SIX5 is implicated in, by any mechanism.

Branchiootorenal syndrome 2 (BOR2) MIM:610896

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 592 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Branchiootorenal syndrome 2

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): 0.8
gnomAD pLI: 0.01
gnomAD missense Z: -0.56
DepMap mean gene effect: -0.12
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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SIX5 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 SIX5 as an antibody target. Whether an autoantibody or antibody against SIX5 could matter depends on whether native SIX5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SIX5 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 SIX5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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