• Gene id: 27291

Gene Summary

• Gene Symbol: R3HCC1L   Gene   UCSC   Ensembl
• Aliases: C10orf28, GIDRP86, GIDRP88, PSORT
• Gene name: R3H domain and coiled-coil containing 1 like
• Alternate names: coiled-coil domain-containing protein R3HCC1L, R3H and coiled-coil domain-containing protein 1-like, growth inhibition and differentiation related protein 86, growth inhibition and differentiation-related protein 88, putative mitochondrial space protein 32.1,
• Gene location: 10q24.2 (78872780: 78898138)     Exons: 13     NC_000015.10

Protein Summary

• Protein general information: Q7Z5L2  
  • Name: Coiled coil domain containing protein R3HCC1L (Growth inhibition and differentiation related protein 88) (Putative mitochondrial space protein 32.1) (R3H and coiled coil domain containing protein 1 like)
  • Length: 792  
  • Mass: 87883
  • Tissue specificity: Expressed in placenta.
• Sequence:

  MQQESERCRVRARRPDMALYVPKARRGAVLLKTGDEEESCGSPNSVVKEKQKESSLSQKEVFKDKPEARRLNINP
  DRKEHNCREEKKSSTKLRMDTCLQKTNRVCSKRGTTESKEVLSQGQQQGAPNAGVITNAPLQRHFKPKKVECLEV
  ETTDVTGHERILLSQACLEISEAQVPSKPFQNVEFCDFSRHEPDGEAFEDKDLEGRIETDTKVLEILYEFPRVFS
  SVMKPENMIVPIKLSSDSEIVQQSMQTSDGILNPSSGGITTTSVPGSPDGVFDQTCVDFEVESVGGIANSTGFIL
  DQKDTDSIPATMGHISLSESTNDTVSPVMIRECEKNDSTADELHVKHEPPDTAVLAHETHRDSGFKNVGDITNKA
  CMMDTTGMSCSDHVTVDSPYVVAVRIADETSINTRSFSKFVGMSADATPLHVARSGNDTEDFSNPSACSDIYGES
  ISSHFTESTGKLIESLSDCASSLPIKKIAGSNYNTFLDSELSMLNGTKVLSDSAVGIDLGSTGDTTEALHELRTA
  EEFKTEEQDDSGSIEFGVSFPDRESSSMETSIEPKATETSHTEGITAIEESWESMFNDDGDCLDPRLLQEGILMH
  IKPENHCSKLSGNTKSRESIQEPRSDYYNHEVPDIDLSDCEFPHVIEIYDFPQEFHTEDLLRVFCSYQKKGFDIK
  WVDDTHALGVFSSPITARDALGIKHTMVKIRPLSQATRAAKAKARAYAEFLQPAKERPETSAALARRLVISALGV
  RSKQSKTEREAELKKLQEARERKRLEAKQREDIWEGRDQSTV

• Structural information:
  • Interpro: IPR012677  IPR039884  
  • STRING: ENSP00000483494
• Other Databases: GeneCards:  R3HCC1L  Malacards:  R3HCC1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035145	exon-exon junction complex	IBA	colocalizes with
GO:0035145	exon-exon junction complex	IDA	colocalizes with
GO:0005515	protein binding	IPI	molecular function

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)