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KANSL1L KAT8 regulatory NSL complex subunit 1 like [ Homo sapiens (human) ]

Gene ID: 151050, updated on 5-Mar-2024

Summary

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Official Symbol
KANSL1Lprovided by HGNC
Official Full Name
KAT8 regulatory NSL complex subunit 1 likeprovided by HGNC
Primary source
HGNC:HGNC:26310
See related
Ensembl:ENSG00000144445 MIM:613833; AllianceGenome:HGNC:26310
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MSL1v2; C2orf67
Summary
Predicted to enable histone acetyltransferase binding activity. Predicted to be part of NSL complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 5.3), ovary (RPKM 4.5) and 25 other tissues See more
Orthologs
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Genomic context

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See KANSL1L in Genome Data Viewer
Location:
2q34
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (210021421..210172760, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (210502126..210653462, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (210886145..211036133, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene microtubule associated protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:210616149-210616706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:210616707-210617263 Neighboring gene RNA, 5S ribosomal pseudogene 118 Neighboring gene NANOG hESC enhancer GRCh37_chr2:210638115-210638616 Neighboring gene Sharpr-MPRA regulatory region 8450 Neighboring gene unc-80 homolog, NALCN channel complex subunit Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:210729225-210729762 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:210729763-210730300 Neighboring gene snail family zinc finger 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 8902 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:210782411-210783610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17054 Neighboring gene KANSL1L antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr2:210911567-210912293 Neighboring gene ribulose-5-phosphate-3-epimerase Neighboring gene uncharacterized LOC107985977 Neighboring gene ribosomal protein L6 pseudogene 6 Neighboring gene H3K27ac hESC enhancers GRCh37_chr2:211035158-211035792 and GRCh37_chr2:211035793-211036428 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:211036429-211037062 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:211042111-211042612 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:211042613-211043112 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:211045686-211046331 Neighboring gene uncharacterized LOC124907972 Neighboring gene acyl-CoA dehydrogenase long chain

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16. Smith ER, et al. Mol Cell Biol, 2005 Nov. PMID 16227571, Free PMC Article
  2. Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107410
  3. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Blandin G, et al. Skelet Muscle, 2013 Feb 15. PMID 23414517, Free PMC Article
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23861

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone acetyltransferase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of NSL complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
KAT8 regulatory NSL complex subunit 1-like protein
Names
KIAA1267-like
male-specific lethal 1 homolog

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001307976.2 → NP_001294905.1  KAT8 regulatory NSL complex subunit 1-like protein isoform 2

    See identical proteins and their annotated locations for NP_001294905.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
    Source sequence(s)
    AA252480, AA404520, AC006994, AI289109, AK308432, BC143914, BU568066, DR002867
    Consensus CDS
    CCDS77519.1
    UniProtKB/Swiss-Prot
    A0AUZ9
    Related
    ENSP00000405724.1, ENST00000418791.5
    Conserved Domains (1) summary
    pfam15275
    Location:754 → 873
    PEHE; PEHE domain

  2. NM_152519.4 → NP_689732.2  KAT8 regulatory NSL complex subunit 1-like protein isoform 1

    See identical proteins and their annotated locations for NP_689732.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC006994, AI289109, AK074441, AL133053, BC032837, BQ948513, BU568066, CA393360, DR002867
    Consensus CDS
    CCDS33370.1
    UniProtKB/Swiss-Prot
    A0AUZ9, B7ZLN1, I6L9A8, Q53TV8, Q53TW3, Q6IS05, Q8TCI1, Q96MI0, Q9UFC3
    Related
    ENSP00000281772.8, ENST00000281772.14
    Conserved Domains (1) summary
    pfam15275
    Location:796 → 915
    PEHE; PEHE domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    210021421..210172760 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047443489.1 → XP_047299445.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X2

  2. XM_005246330.4 → XP_005246387.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X3

    See identical proteins and their annotated locations for XP_005246387.1

    UniProtKB/Swiss-Prot
    A0AUZ9, B7ZLN1, I6L9A8, Q53TV8, Q53TW3, Q6IS05, Q8TCI1, Q96MI0, Q9UFC3
    Conserved Domains (1) summary
    pfam15275
    Location:796 → 915
    PEHE; PEHE domain

  3. XM_011510706.4 → XP_011509008.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X3

    See identical proteins and their annotated locations for XP_011509008.1

    UniProtKB/Swiss-Prot
    A0AUZ9, B7ZLN1, I6L9A8, Q53TV8, Q53TW3, Q6IS05, Q8TCI1, Q96MI0, Q9UFC3
    Conserved Domains (1) summary
    pfam15275
    Location:796 → 915
    PEHE; PEHE domain

  4. XM_005246332.6 → XP_005246389.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X4

    Conserved Domains (1) summary
    pfam15275
    Location:787 → 906
    PEHE; PEHE domain

  5. XM_005246328.5 → XP_005246385.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X1

    Conserved Domains (1) summary
    pfam15275
    Location:829 → 948
    PEHE; PEHE domain

  6. XM_005246329.5 → XP_005246386.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X3

    See identical proteins and their annotated locations for XP_005246386.1

    UniProtKB/Swiss-Prot
    A0AUZ9, B7ZLN1, I6L9A8, Q53TV8, Q53TW3, Q6IS05, Q8TCI1, Q96MI0, Q9UFC3
    Conserved Domains (1) summary
    pfam15275
    Location:796 → 915
    PEHE; PEHE domain

  7. XM_017003430.2 → XP_016858919.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X3

    UniProtKB/Swiss-Prot
    A0AUZ9, B7ZLN1, I6L9A8, Q53TV8, Q53TW3, Q6IS05, Q8TCI1, Q96MI0, Q9UFC3
    Conserved Domains (1) summary
    pfam15275
    Location:796 → 915
    PEHE; PEHE domain

  8. XM_011510710.3 → XP_011509012.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X8

    Conserved Domains (1) summary
    pfam15275
    Location:368 → 487
    PEHE; PEHE domain

  9. XM_017003431.2 → XP_016858920.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X14

  10. XM_047443490.1 → XP_047299446.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X5

    Related
    ENSP00000393432.1, ENST00000457374.5

  11. XM_047443491.1 → XP_047299447.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X9

  12. XM_047443494.1 → XP_047299450.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X13

  13. XM_011510709.3 → XP_011509011.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X6

  14. XM_047443493.1 → XP_047299449.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X12

  15. XM_047443492.1 → XP_047299448.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X11

  16. XM_005246334.6 → XP_005246391.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X10

  17. XM_006712320.4 → XP_006712383.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    210502126..210653462 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340729.1 → XP_054196704.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X2

  2. XM_054340730.1 → XP_054196705.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X3

    UniProtKB/Swiss-Prot
    A0AUZ9, B7ZLN1, I6L9A8, Q53TV8, Q53TW3, Q6IS05, Q8TCI1, Q96MI0, Q9UFC3

  3. XM_054340731.1 → XP_054196706.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X3

    UniProtKB/Swiss-Prot
    A0AUZ9, B7ZLN1, I6L9A8, Q53TV8, Q53TW3, Q6IS05, Q8TCI1, Q96MI0, Q9UFC3

  4. XM_054340728.1 → XP_054196703.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X1

  5. XM_054340732.1 → XP_054196707.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X4

  6. XM_054340733.1 → XP_054196708.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X3

    UniProtKB/Swiss-Prot
    A0AUZ9, B7ZLN1, I6L9A8, Q53TV8, Q53TW3, Q6IS05, Q8TCI1, Q96MI0, Q9UFC3

  7. XM_054340734.1 → XP_054196709.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X3

    UniProtKB/Swiss-Prot
    A0AUZ9, B7ZLN1, I6L9A8, Q53TV8, Q53TW3, Q6IS05, Q8TCI1, Q96MI0, Q9UFC3

  8. XM_054340738.1 → XP_054196713.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X8

  9. XM_054340735.1 → XP_054196710.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X5

  10. XM_054340739.1 → XP_054196714.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X9

  11. XM_054340743.1 → XP_054196718.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X13

  12. XM_054340736.1 → XP_054196711.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X6

  13. XM_054340742.1 → XP_054196717.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X12

  14. XM_054340741.1 → XP_054196716.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X11

  15. XM_054340737.1 → XP_054196712.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X7

  16. XM_054340740.1 → XP_054196715.1  KAT8 regulatory NSL complex subunit 1-like protein isoform X10

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0AUZ9.2 GenPept UniProtKB/Swiss-Prot:A0AUZ9

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