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    HOXA11 homeobox A11 [ Homo sapiens (human) ]

    Gene ID: 3207, updated on 9-Dec-2024

    Summary

    Official Symbol
    HOXA11provided by HGNC
    Official Full Name
    homeobox A11provided by HGNC
    Primary source
    HGNC:HGNC:5101
    See related
    Ensembl:ENSG00000005073 MIM:142958; AllianceGenome:HGNC:5101
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HOX1; HOX1I; RUSAT1
    Summary
    In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in endometrium (RPKM 34.9), prostate (RPKM 6.8) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HOXA11 in Genome Data Viewer
    Location:
    7p15.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (27181157..27185232, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (27317166..27321240, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (27220776..27224851, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene HOXA10-HOXA9 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27208794-27209384 Neighboring gene HOXA10 antisense RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27211139-27211638 Neighboring gene microRNA 196b Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27213347-27213993 Neighboring gene homeobox A10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27213994-27214639 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27218758-27219360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27219361-27219962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27222450-27223332 Neighboring gene NUP98-HOXA11 recombination region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27223333-27224214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27225097-27225978 Neighboring gene HOXA11 antisense RNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27231749-27232306 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27232307-27232864 Neighboring gene homeobox A13 Neighboring gene NUP98-HOXA13 recombination region

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in branching involved in ureteric bud morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cartilage development involved in endochondral bone morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chondrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in developmental growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dorsal/ventral pattern formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic forelimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic limb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic skeletal joint morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesodermal cell fate specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in metanephros development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in organ induction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of chondrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in prostate gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proximal/distal pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in uterus development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of protein-DNA complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-containing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of transcription regulator complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    homeobox protein Hox-A11
    Names
    homeo box 1I
    homeobox protein HOXA11
    homeobox protein Hox-1I

    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.

    Genomic

    1. NG_012079.1 RefSeqGene

      Range
      5001..9060
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_561

    mRNA and Protein(s)

    1. NM_005523.6NP_005514.1  homeobox protein Hox-A11

      See identical proteins and their annotated locations for NP_005514.1

      Status: REVIEWED

      Source sequence(s)
      AC004080, BC040948
      Consensus CDS
      CCDS5411.1
      UniProtKB/Swiss-Prot
      A4D190, P31270
      UniProtKB/TrEMBL
      B2R9U5
      Related
      ENSP00000006015.3, ENST00000006015.4
      Conserved Domains (2) summary
      pfam00046
      Location:244297
      Homeobox; Homeobox domain
      pfam12045
      Location:25167
      DUF3528; Protein of unknown function (DUF3528)

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      27181157..27185232 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      27317166..27321240 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)