Seroatlas · Human Serome Atlas

KANSL1

KAT8 regulatory NSL complex subunit 1

Also known as: CENP-36, DKFZP727C091, KANL1_HUMAN, KIAA1267, MSL1v1, NSL1

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

Protein identityUniProt · HPA

UniProt accession
Q7Z3B3
Gene
KANSL1
Ensembl
ENSG00000120071
Chromosome
17
Canonical length
1105 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The encoded protein has been implicated in a variety of cellular processes including enhancer regulation, cell proliferation, and mitosis. Mutations in this gene are associated with Koolen-de Vries Syndrome. [provided by RefSeq, May 2022]

Canonical amino-acid sequenceUniProt

1105 residues, UniProt reviewed canonical sequence.

>Q7Z3B3|KANSL1
     1  MAAMAPALTD AAAEAHHIRF KLAPPSSTLS PGSAENNGNA NILIAANGTK RKAIAAEDPS
    61  LDFRNNPTKE DLGKLQPLVA SYLCSDVTSV PSKESLKLQG VFSKQTVLKS HPLLSQSYEL
   121  RAELLGRQPV LEFSLENLRT MNTSGQTALP QAPVNGLAKK LTKSSTHSDH DNSTSLNGGK
   181  RALTSSALHG GEMGGSESGD LKGGMTNCTL PHRSLDVEHT TLYSNNSTAN KSSVNSMEQP
   241  ALQGSSRLSP GTDSSSNLGG VKLEGKKSPL SSILFSALDS DTRITALLRR QADIESRARR
   301  LQKRLQVVQA KQVERHIQHQ LGGFLEKTLS KLPNLESLRP RSQLMLTRKA EAALRKAASE
   361  TTTSEGLSNF LKSNSISEEL ERFTASGIAN LRCSEQAFDS DVTDSSSGGE SDIEEEELTR
   421  ADPEQRHVPL RRRSEWKWAA DRAAIVSRWN WLQAHVSDLE YRIRQQTDIY KQIRANKGLI
   481  VLGEVPPPEH TTDLFLPLSS EVKTDHGTDK LIESVSQPLE NHGAPIIGHI SESLSTKSCG
   541  ALRPVNGVIN TLQPVLADHI PGDSSDAEEQ LHKKQRLNLV SSSSDGTCVA ARTRPVLSCK
   601  KRRLVRPNSI VPLSKKVHRN STIRPGCDVN PSCALCGSGS INTMPPEIHY EAPLLERLSQ
   661  LDSCVHPVLA FPDDVPTSLH FQSMLKSQWQ NKPFDKIKPP KKLSLKHRAP MPGSLPDSAR
   721  KDRHKLVSSF LTTAKLSHHQ TRPDRTHRQH LDDVGAVPMV ERVTAPKAER LLNPPPPVHD
   781  PNHSKMRLRD HSSERSEVLK HHTDMSSSSY LAATHHPPHS PLVRQLSTSS DSPAPASSSS
   841  QVTASTSQQP VRRRRGESSF DINNIVIPMS VAATTRVEKL QYKEILTPSW REVDLQSLKG
   901  SPDEENEEIE DLSDAAFAAL HAKCEEMERA RWLWTTSVPP QRRGSRSYRS SDGRTTPQLG
   961  SANPSTPQPA SPDVSSSHSL SEYSHGQSPR SPISPELHSA PLTPVARDTP RHLASEDTRC
  1021  STPELGLDEQ SVQPWERRTF PLAHSPQAEC EDQLDAQERA ARCTRRTSGS KTGRETEAAP
  1081  TSPPIVPLKS RHLVAAATAQ RPTHR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KANSL1 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
19 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 19 nTPM
  • skin: 17 nTPM
  • testis: 16 nTPM
  • thymus: 16 nTPM
  • skeletal muscle: 16 nTPM
  • blood vessel: 15 nTPM

Single-cell type

  • choroid plexus epithelial cells: 977 nCPM
  • microglia: 791 nCPM
  • oligodendrocytes: 660 nCPM
  • ependymal cells: 643 nCPM
  • oligodendrocyte progenitor cells: 621 nCPM
  • distal convoluted tubule cells: 550 nCPM

Immune cell

  • memory CD8 T-cell: 0.5 nTPM
  • memory B-cell: 0.4 nTPM
  • NK-cell: 0.4 nTPM
  • eosinophil: 0.3 nTPM
  • memory CD4 T-cell: 0.3 nTPM
  • naive CD4 T-cell: 0.3 nTPM

Brain region

  • cerebellum: 44 nTPM
  • cerebral cortex: 28 nTPM
  • white matter: 27 nTPM
  • pons: 27 nTPM
  • midbrain: 26 nTPM
  • thalamus: 25 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KANSL1.

Disease | AllUniProt

Conditions KANSL1 is implicated in, by any mechanism.

Disease | GeneticClinVar

128 pathogenic / likely-pathogenic of 1,496 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)
0.24
gnomAD pLI
1
gnomAD missense Z
1.23
DepMap mean gene effect
-1.05
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KANSL1 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 KANSL1 as an antibody target. Whether an autoantibody or antibody against KANSL1 could matter depends on whether native KANSL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KANSL1 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 KANSL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KANSL1. 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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