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    HMBOX1 homeobox containing 1 [ Homo sapiens (human) ]

    Gene ID: 79618, updated on 5-Aug-2022

    Summary

    Official Symbol
    HMBOX1provided by HGNC
    Official Full Name
    homeobox containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26137
    See related
    Ensembl:ENSG00000147421 MIM:618610; AllianceGenome:HGNC:26137
    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
    HOT1; TAH1; PBHNF; HNF1LA
    Summary
    Enables double-stranded telomeric DNA binding activity; identical protein binding activity; and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II; positive regulation of telomerase activity; and positive regulation of telomere maintenance via telomerase. Located in several cellular components, including centrosome; chromosome, telomeric region; and nuclear body. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal (RPKM 3.8), testis (RPKM 3.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HMBOX1 in Genome Data Viewer
    Location:
    8p21.1-p12
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (28890116..29053270)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (29168579..29331436)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (28747912..28910787)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U3 Neighboring gene integrator complex subunit 9 Neighboring gene ribosomal protein L36a pseudogene 32 Neighboring gene uncharacterized LOC105379346 Neighboring gene Sharpr-MPRA regulatory region 8281 Neighboring gene RNA, 5S ribosomal pseudogene 260 Neighboring gene kinesin family member 13B Neighboring gene high mobility group box 1 pseudogene 23

    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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21616

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables double-stranded telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables telomeric DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Cajal body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in PML body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
     
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in chromosome, telomeric region HDA PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    homeobox-containing protein 1
    Names
    homeobox telomere-binding protein 1
    homeobox-containing protein PBHNF
    telomere-associated homeobox-containing protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001135726.3NP_001129198.1  homeobox-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001129198.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (1).
      Source sequence(s)
      AC108449, AK290683, BQ019252
      Consensus CDS
      CCDS6071.1
      UniProtKB/Swiss-Prot
      Q6NT76, Q9H701
      Related
      ENSP00000287701.10, ENST00000287701.15
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    2. NM_001324382.2NP_001311311.1  homeobox-containing protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (1).
      Source sequence(s)
      AC040975, AC108449, AK290683, BQ019252, DC358620, DC395744
      Consensus CDS
      CCDS6071.1
      UniProtKB/Swiss-Prot
      Q6NT76, Q9H701
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    3. NM_001324383.2NP_001311312.1  homeobox-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC108449, AK290683, AK295320, BC069242, BQ019252
      UniProtKB/Swiss-Prot
      Q6NT76
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    4. NM_001324384.1NP_001311313.1  homeobox-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC108449, AK290683, AK295320, BC069242, BQ019252
      UniProtKB/Swiss-Prot
      Q6NT76
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    5. NM_001324385.2NP_001311314.1  homeobox-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC040975, AC091558, AC108449, AK290683, BQ019252
      UniProtKB/Swiss-Prot
      Q6NT76
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    6. NM_001324386.2NP_001311315.1  homeobox-containing protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC108449, AK290683, BQ019252, DQ153248
      UniProtKB/Swiss-Prot
      Q6NT76
      Related
      ENSP00000430059.1, ENST00000519047.5
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    7. NM_001324387.2NP_001311316.1  homeobox-containing protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC108449, AK290683, BQ019252, DQ153248
      UniProtKB/Swiss-Prot
      Q6NT76
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    8. NM_001324388.2NP_001311317.1  homeobox-containing protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC040975, AC108449, AK290683, BQ019252, DC358620, DC395744, DQ153248
      UniProtKB/Swiss-Prot
      Q6NT76
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    9. NM_001324389.2NP_001311318.1  homeobox-containing protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC040975, AC091558, AC108449, AK290683, BQ019252
      UniProtKB/Swiss-Prot
      Q6NT76
      UniProtKB/TrEMBL
      D3DSU2
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    10. NM_001324390.1NP_001311319.1  homeobox-containing protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC091558, AC108449, BC069242, BQ019252
      UniProtKB/Swiss-Prot
      Q6NT76
      UniProtKB/TrEMBL
      D3DSU2
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    11. NM_001324391.2NP_001311320.1  homeobox-containing protein 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC108449, AK290683, BC009259, BQ019252
      Consensus CDS
      CCDS83274.1
      UniProtKB/Swiss-Prot
      Q6NT76
      Related
      ENSP00000453211.1, ENST00000558662.5
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    12. NM_001324392.1NP_001311321.1  homeobox-containing protein 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC040975, AC091558, AC108449, BC069242, BQ019252
      Consensus CDS
      CCDS83274.1
      UniProtKB/Swiss-Prot
      Q6NT76
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    13. NM_001324393.2NP_001311322.1  homeobox-containing protein 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC108449, AK290683, BC009259, BQ019252, DC341559, DQ153248
      UniProtKB/Swiss-Prot
      Q6NT76
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    14. NM_001324394.2NP_001311323.1  homeobox-containing protein 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC108449, AK290683, BC009259, BQ019252, DC341559, DQ153248
      UniProtKB/Swiss-Prot
      Q6NT76
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    15. NM_001324395.2NP_001311324.1  homeobox-containing protein 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC108449, AK290683, BC009259, BQ019252
      UniProtKB/Swiss-Prot
      Q6NT76
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    16. NM_001330498.2NP_001317427.1  homeobox-containing protein 1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC108449, BF369137, BQ019252, BX353564, HY077398
      Consensus CDS
      CCDS83273.1
      UniProtKB/Swiss-Prot
      Q6NT76
      Related
      ENSP00000430110.1, ENST00000524238.3
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    17. NM_024567.4NP_078843.2  homeobox-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_078843.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 2, and 3 all encode the same isoform (1).
      Source sequence(s)
      AC108449, BC069242, BQ019252
      Consensus CDS
      CCDS6071.1
      UniProtKB/Swiss-Prot
      Q6NT76, Q9H701
      Related
      ENSP00000380516.3, ENST00000397358.7
      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus

    RNA

    1. NR_136757.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC108449, AK290683, BC009259, BQ019252
    2. NR_136758.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA400589, AC108449, AK290683, BQ019252, DQ153248

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      28890116..29053270
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422223.1XP_047278179.1  homeobox-containing protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q9H701
    2. XM_017013823.3XP_016869312.1  homeobox-containing protein 1 isoform X1

      Conserved Domains (2) summary
      cd00086
      Location:268340
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25227
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    3. XM_047422219.1XP_047278175.1  homeobox-containing protein 1 isoform X1

    4. XM_047422224.1XP_047278180.1  homeobox-containing protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q9H701
    5. XM_047422227.1XP_047278183.1  homeobox-containing protein 1 isoform X5

    6. XM_006716398.3XP_006716461.1  homeobox-containing protein 1 isoform X6

      Related
      ENSP00000453185.1, ENST00000560599.5
      Conserved Domains (2) summary
      cd00086
      Location:268305
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04814
      Location:25226
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    7. XM_047422229.1XP_047278185.1  homeobox-containing protein 1 isoform X7

    8. XM_017013825.2XP_016869314.1  homeobox-containing protein 1 isoform X7

      UniProtKB/Swiss-Prot
      Q6NT76
      Related
      ENSP00000430238.1, ENST00000521516.5
      Conserved Domains (1) summary
      pfam04814
      Location:25226
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    9. XM_011544642.3XP_011542944.1  homeobox-containing protein 1 isoform X8

      Conserved Domains (1) summary
      pfam04814
      Location:25226
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    10. XM_047422220.1XP_047278176.1  homeobox-containing protein 1 isoform X2

    11. XM_047422222.1XP_047278178.1  homeobox-containing protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q9H701
    12. XM_047422228.1XP_047278184.1  homeobox-containing protein 1 isoform X5

    13. XM_047422221.1XP_047278177.1  homeobox-containing protein 1 isoform X3

    14. XM_047422218.1XP_047278174.1  homeobox-containing protein 1 isoform X1

    15. XM_047422226.1XP_047278182.1  homeobox-containing protein 1 isoform X5

      Related
      ENSP00000475196.1, ENST00000355231.9

    RNA

    1. XR_001745595.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      29168579..29331436
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)