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

Gene ID: 283254, updated on 5-Mar-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. Predicted to be involved in nucleic acid phosphodiester bond hydrolysis. Located in centriolar satellite; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 5.1), brain (RPKM 1.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11p11.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (46602861..46617895, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (46758900..46773965, complement)
105.20220307 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
  • 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
  
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_2023_10

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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