• Gene id: 55027

Gene Summary

• Gene Symbol: HEATR3   Gene   UCSC   Ensembl
• Aliases: SYO1
• Gene name: HEAT repeat containing 3
• Alternate names: HEAT repeat-containing protein 3, symportin 1,
• Gene location: 16q12.1 (50065940: 50107271)     Exons: 17     NC_000016.10
• Gene summary(Entrez): 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]
• OMIM: 614951

Protein Summary

• Protein general information: Q7Z4Q2  
  • Name: HEAT repeat containing protein 3
  • Length: 680  
  • Mass: 74583
• Sequence:

  MGKSRTKRFKRPQFSPTGDCQAEAAAAANGTGGEEDDGPAAELLEKLQHPSAEVRECACAGLARLVQQRPALPGL
  ARRDAVRRLGPLLLDPSLAVRETAAGALRNLSACGGFEVCDDMVTKDIMTPLVALLKECSAGLDSNEMSLQEKKD
  QNRNSIENIANETVNVLWNICECSSRAVSIFNKEGCLEIVLKYLSRFPTNVDLAISVAYCLQTVTEDNPELLKSF
  SATALNMLESALLSPVSSMESLLLKTLVAGTIWNLKDIIPCKSQAEIINALLKILSEVLGMDAGEMVIQMKEAET
  QRLKTAAEAEEILENTNGDDLIEDDEMEGISHKRRVRRKTFVSDLLPPTDKELRETIALLTAQQTALEIIVNMCC
  NEDPSDDEWEELSSSDESDAFMENSFSECGGQLFSPLCLSHEVHTALTNYLIPKKIFEKTAFPNSIAVDLCSRNP
  TWKPLIRKMNTIQCRALFCLQSLVSLLDVEHLGGAAALQTLAQHLSQLLFSQPDFAKHVDFLEAISSALRALLQT
  MASKNISQCMTPDQLMTLCKAGIHSSNVGVRVNVVSILGITGSVLAKEDGTLETLKNIGCFLLEVTTKDPSLVVA
  GEALDALFDVFADGKEAERASIQIKLLSALKEFQPVFKMKIRKEGRGNYSTDQLCVLDNVKMNLRRFIAYQETVE
  KRLTS

• Structural information:
  • Interpro: IPR011989  IPR016024  
  • STRING: ENSP00000299192
• Other Databases: GeneCards:  HEATR3  Malacards:  HEATR3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051082	unfolded protein binding	IBA	molecular function
GO:0042273	ribosomal large subunit biogenesis	IBA	biological process
GO:0006606	protein import into nucleus	IBA	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)