Seroatlas · Human Serome Atlas

SETD5

Histone-lysine N-methyltransferase SETD5

Also known as: FLJ10707, SETD5_HUMAN, SETD5A

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

Protein identityUniProt · HPA

UniProt accession: Q9C0A6
Gene: SETD5
Ensembl: ENSG00000168137
Chromosome: 3
Canonical length: 1442 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

1442 residues, UniProt reviewed canonical sequence.

>Q9C0A6|SETD5
     1  MSIAIPLGVT TSDTSYSDMA AGSDPESVEA SPAVNEKSVY STHNYGTTQR HGCRGLPYAT
    61  IIPRSDLNGL PSPVEERCGD SPNSEGETVP TWCPCGLSQD GFLLNCDKCR GMSRGKVIRL
   121  HRRKQDNISG GDSSATESWD EELSPSTVLY TATQHTPTSI TLTVRRTKPK KRKKSPEKGR
   181  AAPKTKKIKN SPSEAQNLDE NTTEGWENRI RLWTDQYEEA FTNQYSADVQ NALEQHLHSS
   241  KEFVGKPTIL DTINKTELAC NNTVIGSQMQ LQLGRVTRVQ KHRKILRAAR DLALDTLIIE
   301  YRGKVMLRQQ FEVNGHFFKK PYPFVLFYSK FNGVEMCVDA RTFGNDARFI RRSCTPNAEV
   361  RHMIADGMIH LCIYAVSAIT KDAEVTIAFD YEYSNCNYKV DCACHKGNRN CPIQKRNPNA
   421  TELPLLPPPP SLPTIGAETR RRKARRKELE MEQQNEASEE NNDQQSQEVP EKVTVSSDHE
   481  EVDNPEEKPE EEKEEVIDDQ ENLAHSRRTR EDRKVEAIMH AFENLEKRKK RRDQPLEQSN
   541  SDVEITTTTS ETPVGEETKT EAPESEVSNS VSNVTIPSTP QSVGVNTRRS SQAGDIAAEK
   601  LVPKPPPAKP SRPRPKSRIS RYRTSSAQRL KRQKQANAQQ AELSQAALEE GGSNSLVTPT
   661  EAGSLDSSGE NRPLTGSDPT VVSITGSHVN RAASKYPKTK KYLVTEWLND KAEKQECPVE
   721  CPLRITTDPT VLATTLNMLP GLIHSPLICT TPKHYIRFGS PFIPERRRRP LLPDGTFSSC
   781  KKRWIKQALE EGMTQTSSVP QETRTQHLYQ SNENSSSSSI CKDNADLLSP LKKWKSRYLM
   841  EQNVTKLLRP LSPVTPPPPN SGSKSPQLAT PGSSHPGEEE CRNGYSLMFS PVTSLTTASR
   901  CNTPLQFELC HRKDLDLAKV GYLDSNTNSC ADRPSLLNSG HSDLAPHPSL GPTSETGFPS
   961  RSGDGHQTLV RNSDQAFRTE FNLMYAYSPL NAMPRADGLY RGSPLVGDRK PLHLDGGYCS
  1021  PAEGFSSRYE HGLMKDLSRG SLSPGGERAC EGVPSAPQNP PQRKKVSLLE YRKRKQEAKE
  1081  NSAGGGGDSA QSKSKSAGAG QGSSNSVSDT GAHGVQGSSA RTPSSPHKKF SPSHSSMSHL
  1141  EAVSPSDSRG TSSSHCRPQE NISSRWMVPT SVERLREGGS IPKVLRSSVR VAQKGEPSPT
  1201  WESNITEKDS DPADGEGPET LSSALSKGAT VYSPSRYSYQ LLQCDSPRTE SQSLLQQSSS
  1261  PFRGHPTQSP GYSYRTTALR PGNPPSHGSS ESSLSSTSYS SPAHPVSTDS LAPFTGTPGY
  1321  FSSQPHSGNS TGSNLPRRSC PSSAASPTLQ GPSDSPTSDS VSQSSTGTLS STSFPQNSRS
  1381  SLPSDLRTIS LPSAGQSAVY QASRVSAVSN SQHYPHRGSG GVHQYRLQPL QGSGVKTQTG
  1441  LS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SETD5 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): 0.64
Highest tissue expression: 45 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 45 nTPM
lung: 31 nTPM
ovary: 31 nTPM
skin: 29 nTPM
colon: 28 nTPM
thyroid gland: 28 nTPM

Single-cell type

adrenal cortex cells: 664 nCPM
pituicytes/fscs: 512 nCPM
oligodendrocyte progenitor cells: 417 nCPM
sertoli cells: 385 nCPM
adrenal medulla cells: 372 nCPM
lactotrophs: 363 nCPM

Immune cell

plasmacytoid DC: 1.3 nTPM
MAIT T-cell: 1.2 nTPM
NK-cell: 1.2 nTPM
gdT-cell: 1.1 nTPM
memory CD8 T-cell: 1.1 nTPM
neutrophil: 1.1 nTPM

Brain region

cerebellum: 60 nTPM
cerebral cortex: 46 nTPM
hypothalamus: 45 nTPM
white matter: 44 nTPM
hippocampal formation: 43 nTPM
amygdala: 42 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SETD5.

Disease | AllUniProt

Conditions SETD5 is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal dominant 23 (MRD23) MIM:615761

Disease | GeneticClinVar

284 pathogenic / likely-pathogenic of 1,465 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Inborn genetic diseases
SETD5-related disorder
Intellectual disability
See cases

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): 0.23
gnomAD pLI: 1
gnomAD missense Z: 1.13
DepMap mean gene effect: -0.31
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 SETD5 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 SETD5 as an antibody target. Whether an autoantibody or antibody against SETD5 could matter depends on whether native SETD5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SETD5 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 SETD5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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