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

    Gene ID: 151050, updated on 28-Oct-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 located in intracellular membrane-bounded organelle. Predicted to be part of NSL complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 5.3), ovary (RPKM 4.5) and 25 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (210021421..210172760, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (210502126..210653462, complement)
    RS_2024_09 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 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. Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets. Mihalič F, et al. Nat Commun, 2023 Sep 13. PMID 37704626, Free PMC Article
    4. 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
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (9) 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
    		  
    located_in intracellular membrane-bounded organelle IEA
    Inferred from Electronic Annotation
    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_2024_08

    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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