Format

Send to:

Choose Destination

HMBOX1 homeobox containing 1 [ Homo sapiens (human) ]

Gene ID: 79618, updated on 7-Jun-2020

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
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
Expression
Ubiquitous expression in adrenal (RPKM 3.8), testis (RPKM 3.5) and 25 other tissues See more
Orthologs

Genomic context

See HMBOX1 in Genome Data Viewer
Location:
8p21.1-p12
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (28890394..29064945)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (28747911..28922456)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene exostosin like glycosyltransferase 3 Neighboring gene EXTL3 antisense RNA 1 Neighboring gene integrator complex subunit 9 Neighboring gene ribosomal protein L36a pseudogene 32 Neighboring gene uncharacterized LOC105379346 Neighboring gene RNA, 5S ribosomal pseudogene 260 Neighboring gene kinesin family member 13B Neighboring gene high mobility group box 1 pseudogene 23 Neighboring gene Sharpr-MPRA regulatory region 4987

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

NHGRI GWAS Catalog

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

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
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
telomeric DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Cajal body IEA
Inferred from Electronic Annotation
more info
 
PML body IEA
Inferred from Electronic Annotation
more info
 
centrosome IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nuclear chromosome, telomeric region HDA PubMed 
nuclear chromosome, telomeric region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
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)

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
    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:25226
    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
    Related
    ENSP00000475196.1, ENST00000355231.9
    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:25226
    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:25226
    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:25226
    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:25226
    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:25226
    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:25226
    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:25226
    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
    Related
    ENSP00000453185.1, ENST00000560599.5
    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:25226
    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:25226
    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:25226
    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:25226
    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:25226
    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:25226
    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
  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:25226
    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
    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:25226
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    28890394..29064945
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273641.5XP_005273698.1  homeobox-containing protein 1 isoform X4

    See identical proteins and their annotated locations for XP_005273698.1

    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:25226
    HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
  2. XM_006716398.2XP_006716461.1  homeobox-containing protein 1 isoform X5

    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
  3. XM_017013825.1XP_016869314.1  homeobox-containing protein 1 isoform X6

    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
  4. XM_011544642.2XP_011542944.1  homeobox-containing protein 1 isoform X7

    Conserved Domains (1) summary
    pfam04814
    Location:25226
    HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
  5. XM_024447269.1XP_024303037.1  homeobox-containing protein 1 isoform X2

    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:25226
    HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
  6. XM_017013823.2XP_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:25226
    HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
  7. XM_017013824.2XP_016869313.1  homeobox-containing protein 1 isoform X3

    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:25226
    HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus

RNA

  1. XR_001745588.1 RNA Sequence

  2. XR_001745594.1 RNA Sequence

  3. XR_001745591.1 RNA Sequence

  4. XR_001745593.1 RNA Sequence

  5. XR_001745595.1 RNA Sequence

  6. XR_001745590.2 RNA Sequence

  7. XR_001745592.2 RNA Sequence

  8. XR_001745589.1 RNA Sequence

Support Center