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    HEATR3 HEAT repeat containing 3 [ Homo sapiens (human) ]

    Gene ID: 55027, updated on 5-Mar-2024

    Summary

    Official Symbol
    HEATR3provided by HGNC
    Official Full Name
    HEAT repeat containing 3provided by HGNC
    Primary source
    HGNC:HGNC:26087
    See related
    Ensembl:ENSG00000155393 MIM:614951; AllianceGenome:HGNC:26087
    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
    SYO1; DBA21
    Summary
    The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in appendix (RPKM 5.5), spleen (RPKM 4.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    16q12.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (50065970..50107272)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (55863712..55905022)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (50099881..50141183)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene regulation of nuclear pre-mRNA domain containing 1A pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:50080479-50080979 Neighboring gene HEATR3 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:50094586-50094761 Neighboring gene actin gamma 1 pseudogene 16 Neighboring gene Sharpr-MPRA regulatory region 4020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7469 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7468 Neighboring gene MPRA-validated peak2588 silencer Neighboring gene RNY4 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:50157041-50157541 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:50177493-50177653 Neighboring gene uncharacterized LOC124900375 Neighboring gene ribosomal protein L10 pseudogene 14

    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

    Associated conditions

    Description Tests
    Diamond-Blackfan anemia 21
    MedGen: C5774230 OMIM: 620072 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
    EBI GWAS Catalog
    Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
    EBI GWAS Catalog
    Meta-analysis identifies four new loci associated with testicular germ cell tumor.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20718

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in erythrocyte maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ribosomal large subunit biogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ribosomal large subunit biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    HEAT repeat-containing protein 3
    Names
    symportin 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_001329729.2NP_001316658.1  HEAT repeat-containing protein 3 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), as well as variant 3, encodes isoform b.
      Source sequence(s)
      AC007610
      UniProtKB/TrEMBL
      A0A8I5KR70
      Conserved Domains (1) summary
      cd13394
      Location:1556
      Syo1_like; Fungal symportin 1 (syo1) and similar proteins
    2. NM_001329730.2NP_001316659.1  HEAT repeat-containing protein 3 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variant 2, encodes isoform b.
      Source sequence(s)
      AC007610
      UniProtKB/TrEMBL
      A0A8I5KR70
      Conserved Domains (1) summary
      cd13394
      Location:1556
      Syo1_like; Fungal symportin 1 (syo1) and similar proteins
    3. NM_001329731.2NP_001316660.1  HEAT repeat-containing protein 3 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC007610
      Conserved Domains (1) summary
      cd13394
      Location:134442
      Syo1_like; Fungal symportin 1 (syo1) and similar proteins
    4. NM_182922.4NP_891552.1  HEAT repeat-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_891552.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC007610
      Consensus CDS
      CCDS10739.1
      UniProtKB/Swiss-Prot
      A8K1N4, Q7Z4Q2, Q8N525, Q8WV56, Q96CC9, Q9NWN7
      Related
      ENSP00000299192.7, ENST00000299192.8
      Conserved Domains (2) summary
      cd13394
      Location:2673
      Syo1_like; Fungal symportin 1 (syo1) and similar proteins
      sd00043
      Location:69108
      ARM; armadillo repeat [structural motif]

    RNA

    1. NR_138092.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC007610
    2. NR_138093.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC007610

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      50065970..50107272
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      55863712..55905022
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_017939.1: Suppressed sequence

      Description
      NM_017939.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.