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    HARBI1 harbinger transposase derived 1 [ Homo sapiens (human) ]

    Gene ID: 283254, updated on 2-Nov-2024

    Summary

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    Official Symbol
    HARBI1provided by HGNC
    Official Full Name
    harbinger transposase derived 1provided by HGNC
    Primary source
    HGNC:HGNC:26522
    See related
    Ensembl:ENSG00000180423 MIM:615086; AllianceGenome:HGNC:26522
    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
    C11orf77
    Summary
    Predicted to enable metal ion binding activity and nuclease activity. Located in centriolar satellite; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 5.1), brain (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HARBI1 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (46602861..46617895, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (46758900..46773965, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (46624411..46638777, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene autophagy and beclin 1 regulator 1 Neighboring gene ribosomal protein S10 pseudogene 19 Neighboring gene NANOG hESC enhancer GRCh37_chr11:46467611-46468112 Neighboring gene microRNA 3160-1 Neighboring gene microRNA 3160-2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3313 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:46559175-46559678 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46559679-46560184 Neighboring gene Sharpr-MPRA regulatory region 9650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46587793-46588293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4681 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:46605824-46606668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:46615325-46615825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4683 Neighboring gene Sharpr-MPRA regulatory region 32 Neighboring gene autophagy related 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46715957-46716456 Neighboring gene Rho GTPase activating protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4684 Neighboring gene zinc finger protein 408

    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. Transposition of a reconstructed Harbinger element in human cells and functional homology with two transposon-derived cellular genes. Sinzelle L, et al. Proc Natl Acad Sci U S A, 2008 Mar 25. PMID 18339812, Free PMC Article
    2. Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. Ferreira RC, et al. Nat Genet, 2010 Sep. PMID 20694011
    3. Harbinger transposons and an ancient HARBI1 gene derived from a transposase. Kapitonov VV, et al. DNA Cell Biol, 2004 May. PMID 15169610
    4. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674
    5. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348

    See all (10) 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

    EBI GWAS Catalog

    Description
    Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
    EBI GWAS Catalog

    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

    • FLJ32675

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nuclease activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    putative nuclease HARBI1
    Names
    harbinger transposase-derived nuclease
    NP_776172.1
    XP_011518327.1
    XP_011518329.1
    XP_011518330.1
    XP_011518331.1
    XP_016873091.1
    XP_016873093.1
    XP_016873094.1
    XP_024304221.1
    XP_047282785.1
    XP_054224511.1
    XP_054224512.1
    XP_054224513.1
    XP_054224514.1
    XP_054224515.1
    XP_054224516.1
    XP_054224517.1
    XP_054224518.1
    XP_054224519.1

    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_173811.4 → NP_776172.1  putative nuclease HARBI1

      See identical proteins and their annotated locations for NP_776172.1

      Status: VALIDATED

      Source sequence(s)
      AC127035, AK057237, BM768489
      Consensus CDS
      CCDS7920.1
      UniProtKB/Swiss-Prot
      D3DQP9, Q96MB7
      Related
      ENSP00000317743.3, ENST00000326737.3
      Conserved Domains (1) summary
      pfam13359
      Location:148 → 300
      DDE_Tnp_4; DDE superfamily endonuclease

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      46602861..46617895 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448453.2 → XP_024304221.1  putative nuclease HARBI1 isoform X2

      UniProtKB/Swiss-Prot
      D3DQP9, Q96MB7
      Conserved Domains (1) summary
      pfam13359
      Location:148 → 300
      DDE_Tnp_4; DDE superfamily endonuclease

    2. XM_011520028.4 → XP_011518330.1  putative nuclease HARBI1 isoform X1

      See identical proteins and their annotated locations for XP_011518330.1

      Conserved Domains (1) summary
      pfam13359
      Location:148 → 328
      DDE_Tnp_4; DDE superfamily endonuclease

    3. XM_011520025.2 → XP_011518327.1  putative nuclease HARBI1 isoform X1

      See identical proteins and their annotated locations for XP_011518327.1

      Conserved Domains (1) summary
      pfam13359
      Location:148 → 328
      DDE_Tnp_4; DDE superfamily endonuclease

    4. XM_017017605.3 → XP_016873094.1  putative nuclease HARBI1 isoform X2

      UniProtKB/Swiss-Prot
      D3DQP9, Q96MB7
      Conserved Domains (1) summary
      pfam13359
      Location:148 → 300
      DDE_Tnp_4; DDE superfamily endonuclease

    5. XM_011520029.3 → XP_011518331.1  putative nuclease HARBI1 isoform X1

      See identical proteins and their annotated locations for XP_011518331.1

      Conserved Domains (1) summary
      pfam13359
      Location:148 → 328
      DDE_Tnp_4; DDE superfamily endonuclease

    6. XM_017017604.2 → XP_016873093.1  putative nuclease HARBI1 isoform X2

      UniProtKB/Swiss-Prot
      D3DQP9, Q96MB7
      Conserved Domains (1) summary
      pfam13359
      Location:148 → 300
      DDE_Tnp_4; DDE superfamily endonuclease

    7. XM_011520027.2 → XP_011518329.1  putative nuclease HARBI1 isoform X1

      See identical proteins and their annotated locations for XP_011518329.1

      Conserved Domains (1) summary
      pfam13359
      Location:148 → 328
      DDE_Tnp_4; DDE superfamily endonuclease

    8. XM_047426829.1 → XP_047282785.1  putative nuclease HARBI1 isoform X2

      UniProtKB/Swiss-Prot
      D3DQP9, Q96MB7

    9. XM_017017602.2 → XP_016873091.1  putative nuclease HARBI1 isoform X1

      Conserved Domains (1) summary
      pfam13359
      Location:148 → 328
      DDE_Tnp_4; DDE superfamily endonuclease

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      46758900..46773965 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368543.1 → XP_054224518.1  putative nuclease HARBI1 isoform X2

      UniProtKB/Swiss-Prot
      D3DQP9, Q96MB7

    2. XM_054368539.1 → XP_054224514.1  putative nuclease HARBI1 isoform X1

    3. XM_054368536.1 → XP_054224511.1  putative nuclease HARBI1 isoform X1

    4. XM_054368542.1 → XP_054224517.1  putative nuclease HARBI1 isoform X2

      UniProtKB/Swiss-Prot
      D3DQP9, Q96MB7

    5. XM_054368538.1 → XP_054224513.1  putative nuclease HARBI1 isoform X1

    6. XM_054368541.1 → XP_054224516.1  putative nuclease HARBI1 isoform X2

      UniProtKB/Swiss-Prot
      D3DQP9, Q96MB7

    7. XM_054368544.1 → XP_054224519.1  putative nuclease HARBI1 isoform X2

      UniProtKB/Swiss-Prot
      D3DQP9, Q96MB7

    8. XM_054368537.1 → XP_054224512.1  putative nuclease HARBI1 isoform X1

    9. XM_054368540.1 → XP_054224515.1  putative nuclease HARBI1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MB7.1 GenPept UniProtKB/Swiss-Prot:Q96MB7

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