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

Gene ID: 55027, updated on 4-Jul-2021

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
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
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
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Genomic context

See HEATR3 in Genome Data Viewer
Location:
16q12.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (50065941..50107272)
105.20201022 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 actin gamma 1 pseudogene 16 Neighboring gene RNY4 pseudogene 3 Neighboring gene ribosomal protein L10 pseudogene 14 Neighboring gene terminal nucleotidyltransferase 4B

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

Phenotypes

Associated conditions

Description Tests
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
GeneReviews: Not available
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
GeneReviews: Not available
Meta-analysis identifies four new loci associated with testicular germ cell tumor.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
Process Evidence Code Pubs
involved_in protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ribosomal large subunit biogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
HEAT repeat-containing protein 3
Names
symportin 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_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
    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
    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
    Q7Z4Q2
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    50065941..50107272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256013.2XP_005256070.1  HEAT repeat-containing protein 3 isoform X1

    See identical proteins and their annotated locations for XP_005256070.1

    Conserved Domains (1) summary
    cd13394
    Location:18587
    Syo1_like; Fungal symportin 1 (syo1) and similar proteins
  2. XM_017023386.1XP_016878875.1  HEAT repeat-containing protein 3 isoform X2

    Conserved Domains (1) summary
    cd13394
    Location:134442
    Syo1_like; Fungal symportin 1 (syo1) and similar proteins

RNA

  1. XR_002957828.1 RNA Sequence

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.
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