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KANSL1 KAT8 regulatory NSL complex subunit 1 [ Homo sapiens (human) ]

Gene ID: 284058, updated on 17-Jun-2019

Summary

Official Symbol
KANSL1provided by HGNC
Official Full Name
KAT8 regulatory NSL complex subunit 1provided by HGNC
Primary source
HGNC:HGNC:24565
See related
Ensembl:ENSG00000120071 MIM:612452
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KDVS; NSL1; MSL1v1; CENP-36; hMSL1v1; KIAA1267
Summary
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 corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]
Expression
Ubiquitous expression in testis (RPKM 12.3), ovary (RPKM 9.4) and 25 other tissues See more
Orthologs

Genomic context

See KANSL1 in Genome Data Viewer
Location:
17q21.31
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (46027335..46225374, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (44107282..44302740, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371800 Neighboring gene microtubule associated protein tau Neighboring gene saitohin Neighboring gene uncharacterized LOC107985027 Neighboring gene KANSL1 antisense RNA 1 Neighboring gene mitogen-activated protein kinase 8 interacting protein 1 pseudogene 1 Neighboring gene DND microRNA-mediated repression inhibitor 1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Koolen-de Vries syndrome
MedGen: C1864871 OMIM: 610443 GeneReviews: Koolen-de Vries Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-04-11)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-04-11)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Common variants at 6q22 and 17q21 are associated with intracranial volume.
NHGRI GWA Catalog
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
NHGRI GWA Catalog
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
NHGRI GWA Catalog

Pathways from BioSystems

  • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
    Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
  • Chromatin organization, organism-specific biosystem (from REACTOME)
    Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
  • HATs acetylate histones, organism-specific biosystem (from REACTOME)
    HATs acetylate histones, organism-specific biosystemHistone acetyltransferases (HATs) involved in histone modifications are referred to as A-type or nuclear HATs. They can be grouped into at least four families based on sequence conservation within th...
  • Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystem (from WikiPathways)
    Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystemProtein pathways altered by mutations in adenoid cystic carcinoma. Pathways include epigentic modification, DNA damage checkpoint signals, MYB/MYC signalling pathway, FGF/IGF/PI3K signalling, and not...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1267, MGC102843, DKFZp727C091, DKFZp686P06109

Gene Ontology Provided by GOA

Process Evidence Code Pubs
histone H4-K16 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone H4-K5 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone H4-K8 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
MLL1 complex IDA
Inferred from Direct Assay
more info
PubMed 
NSL complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
KAT8 regulatory NSL complex subunit 1
Names
MLL1/MLL complex subunit KANSL1
MSL1 homolog 1
NSL complex protein NSL1
centromere protein 36
male-specific lethal 1 homolog
non-specific lethal 1 homolog

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032784.1 RefSeqGene

    Range
    37575..200459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193465.1NP_001180394.1  KAT8 regulatory NSL complex subunit 1 isoform 2

    See identical proteins and their annotated locations for NP_001180394.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternative splice site in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AK291259, AL137317, BC098376, DA010621
    Consensus CDS
    CCDS74084.1
    UniProtKB/Swiss-Prot
    Q7Z3B3
    Related
    ENSP00000461812.2, ENST00000574590.6
    Conserved Domains (1) summary
    pfam15275
    Location:885997
    PEHE; PEHE domain
  2. NM_001193466.2NP_001180395.1  KAT8 regulatory NSL complex subunit 1 isoform 1

    See identical proteins and their annotated locations for NP_001180395.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL137317, BC098376, BX538006
    Consensus CDS
    CCDS11503.2
    UniProtKB/Swiss-Prot
    Q7Z3B3
    UniProtKB/TrEMBL
    A0A024R9Y2
    Related
    ENSP00000262419.6, ENST00000262419.10
    Conserved Domains (1) summary
    pfam15275
    Location:886998
    PEHE; PEHE domain
  3. NM_015443.3NP_056258.1  KAT8 regulatory NSL complex subunit 1 isoform 1

    See identical proteins and their annotated locations for NP_056258.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AI253068, BC098376
    Consensus CDS
    CCDS11503.2
    UniProtKB/Swiss-Prot
    Q7Z3B3
    UniProtKB/TrEMBL
    A0A024R9Y2
    Related
    ENSP00000387393.3, ENST00000432791.6
    Conserved Domains (1) summary
    pfam15275
    Location:886998
    PEHE; PEHE domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    46027335..46225374 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024488.2XP_016879977.1  KAT8 regulatory NSL complex subunit 1 isoform X5

    UniProtKB/TrEMBL
    A0A1W2PRB5
    Related
    ENSP00000461299.1, ENST00000575318.6
    Conserved Domains (1) summary
    pfam15275
    Location:822934
    PEHE; PEHE domain
  2. XM_011524631.3XP_011522933.1  KAT8 regulatory NSL complex subunit 1 isoform X5

    UniProtKB/TrEMBL
    A0A1W2PRB5
    Conserved Domains (1) summary
    pfam15275
    Location:822934
    PEHE; PEHE domain
  3. XM_011524630.3XP_011522932.1  KAT8 regulatory NSL complex subunit 1 isoform X4

    Conserved Domains (1) summary
    pfam15275
    Location:823935
    PEHE; PEHE domain
  4. XM_011524628.3XP_011522930.1  KAT8 regulatory NSL complex subunit 1 isoform X2

    See identical proteins and their annotated locations for XP_011522930.1

    Conserved Domains (1) summary
    pfam15275
    Location:885997
    PEHE; PEHE domain
  5. XM_006721824.4XP_006721887.1  KAT8 regulatory NSL complex subunit 1 isoform X1

    See identical proteins and their annotated locations for XP_006721887.1

    UniProtKB/Swiss-Prot
    Q7Z3B3
    UniProtKB/TrEMBL
    A0A024R9Y2
    Conserved Domains (1) summary
    pfam15275
    Location:886998
    PEHE; PEHE domain
  6. XM_006721823.2XP_006721886.1  KAT8 regulatory NSL complex subunit 1 isoform X1

    See identical proteins and their annotated locations for XP_006721886.1

    UniProtKB/Swiss-Prot
    Q7Z3B3
    UniProtKB/TrEMBL
    A0A024R9Y2
    Related
    ENSP00000461484.1, ENST00000572904.6
    Conserved Domains (1) summary
    pfam15275
    Location:886998
    PEHE; PEHE domain
  7. XM_011524629.3XP_011522931.1  KAT8 regulatory NSL complex subunit 1 isoform X3

    Conserved Domains (1) summary
    pfam15275
    Location:852964
    PEHE; PEHE domain
  8. XM_011524632.3XP_011522934.1  KAT8 regulatory NSL complex subunit 1 isoform X7

    Conserved Domains (1) summary
    pfam15275
    Location:476588
    PEHE; PEHE domain
  9. XM_017024489.1XP_016879978.1  KAT8 regulatory NSL complex subunit 1 isoform X6

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167251.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    561505..758707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187663.1 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    732028..927544 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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