Seroatlas · Human Serome Atlas

KMT5B

Histone-lysine N-methyltransferase KMT5B

Also known as: CGI-85, KMT5B_HUMAN, SUV420H1

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

Protein identityUniProt · HPA

UniProt accession: Q4FZB7
Gene: KMT5B
Ensembl: ENSG00000110066
Chromosome: 11
Canonical length: 885 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli fibrillar center,Plasma membrane,Microtubules,Cytokinetic bridge,Mitotic spindle,Primary cilium,Centrosome,Basal body,Cytoplasmic bodies
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Canonical amino-acid sequenceUniProt

885 residues, UniProt reviewed canonical sequence.

>Q4FZB7|KMT5B
     1  MKWLGESKNM VVNGRRNGGK LSNDHQQNQS KLQHTGKDTL KAGKNAVERR SNRCNGNSGF
    61  EGQSRYVPSS GMSAKELCEN DDLATSLVLD PYLGFQTHKM NTSAFPSRSS RHFSKSDSFS
   121  HNNPVRFRPI KGRQEELKEV IERFKKDEHL EKAFKCLTSG EWARHYFLNK NKMQEKLFKE
   181  HVFIYLRMFA TDSGFEILPC NRYSSEQNGA KIVATKEWKR NDKIELLVGC IAELSEIEEN
   241  MLLRHGENDF SVMYSTRKNC AQLWLGPAAF INHDCRPNCK FVSTGRDTAC VKALRDIEPG
   301  EEISCYYGDG FFGENNEFCE CYTCERRGTG AFKSRVGLPA PAPVINSKYG LRETDKRLNR
   361  LKKLGDSSKN SDSQSVSSNT DADTTQEKNN ATSNRKSSVG VKKNSKSRTL TRQSMSRIPA
   421  SSNSTSSKLT HINNSRVPKK LKKPAKPLLS KIKLRNHCKR LEQKNASRKL EMGNLVLKEP
   481  KVVLYKNLPI KKDKEPEGPA QAAVASGCLT RHAAREHRQN PVRGAHSQGE SSPCTYITRR
   541  SVRTRTNLKE ASDIKLEPNT LNGYKSSVTE PCPDSGEQLQ PAPVLQEEEL AHETAQKGEA
   601  KCHKSDTGMS KKKSRQGKLV KQFAKIEEST PVHDSPGKDD AVPDLMGPHS DQGEHSGTVG
   661  VPVSYTDCAP SPVGCSVVTS DSFKTKDSFR TAKSKKKRRI TRYDAQLILE NNSGIPKLTL
   721  RRRHDSSSKT NDQENDGMNS SKISIKLSKD HDNDNNLYVA KLNNGFNSGS GSSSTKLKIQ
   781  LKRDEENRGS YTEGLHENGV CCSDPLSLLE SRMEVDDYSQ YEEESTDDSS SSEGDEEEDD
   841  YDDDFEDDFI PLPPAKRLRL IVGKDSIDID ISSRRREDQS LRLNA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KMT5B 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): 0.56
Highest tissue expression: 27 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 27 nTPM
cerebellum: 25 nTPM
retina: 25 nTPM
breast: 24 nTPM
thymus: 23 nTPM
endometrium: 22 nTPM

Single-cell type

neutrophils: 257 nCPM
myonuclei: 193 nCPM
adrenal cortex cells: 177 nCPM
thyrotrophs: 172 nCPM
lactotrophs: 169 nCPM
corticotrophs: 162 nCPM

Immune cell

eosinophil: 16 nTPM
basophil: 12 nTPM
NK-cell: 10 nTPM
neutrophil: 9.6 nTPM
naive CD8 T-cell: 5.7 nTPM
non-classical monocyte: 5.5 nTPM

Brain region

cerebellum: 36 nTPM
white matter: 28 nTPM
basal ganglia: 25 nTPM
hypothalamus: 24 nTPM
amygdala: 23 nTPM
cerebral cortex: 23 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KMT5B.

Disease | AllUniProt

Conditions KMT5B is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal dominant 51 (MRD51) MIM:617788

Disease | GeneticClinVar

75 pathogenic / likely-pathogenic of 267 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal dominant 51
Inborn genetic diseases
Intellectual disability
See cases
Neural tube defect

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): 0.08
gnomAD pLI: 1
DepMap mean gene effect: -0.38
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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 KMT5B 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 KMT5B as an antibody target. Whether an autoantibody or antibody against KMT5B could matter depends on whether native KMT5B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KMT5B 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 KMT5B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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