• Gene id: 81554

Gene Summary

• Gene Symbol: RCC1L   Gene   UCSC   Ensembl
• Aliases: WBSCR16
• Gene name: RCC1 like
• Alternate names: RCC1-like G exchanging factor-like protein, Williams-Beuren syndrome chromosomal region 16 protein, Williams-Beuren syndrome chromosome region 16,
• Gene location: 7q11.23 (75073880: 75027118)     Exons: 13     NC_000007.14
• Gene summary(Entrez): This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndr

Protein Summary

• Protein general information: Q96I51  
  • Name: RCC1 like G exchanging factor like protein (RCC1 like) (Williams Beuren syndrome chromosomal region 16 protein)
  • Length: 464  
  • Mass: 49997
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MALVALVAGARLGRRLSGPGLGRGHWTAARRSRSRREAAEAEAEVPVVQYVGERAARADRVFVWGFSFSGALGVP
  SFVVPSSGPGPRAGARPRRRIQPVPYRLELDQKISSAACGYGFTLLSSKTADVTKVWGMGLNKDSQLGFHRSRKD
  KTRGYEYVLEPSPVSLPLDRPQETRVLQVSCGRAHSLVLTDREGVFSMGNNSYGQCGRKVVENEIYSESHRVHRM
  QDFDGQVVQVACGQDHSLFLTDKGEVYSCGWGADGQTGLGHYNITSSPTKLGGDLAGVNVIQVATYGDCCLAVSA
  DGGLFGWGNSEYLQLASVTDSTQVNVPRCLHFSGVGKVRQAACGGTGCAVLNGEGHVFVWGYGILGKGPNLVESA
  VPEMIPPTLFGLTEFNPEIQVSRIRCGLSHFAALTNKGELFVWGKNIRGCLGIGRLEDQYFPWRVTMPGEPVDVA
  CGVDHMVTLAKSFI

• Structural information:
  • Interpro: IPR009091  IPR000408  
  • Prosite: PS00626 PS50012
  • PDB: 5XGS
  • PDBsum: 5XGS
  • STRING: ENSP00000480364
• Other Databases: GeneCards:  RCC1L  Malacards:  RCC1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019843	rRNA binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990613	mitochondrial membrane fusion	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0019843	rRNA binding	IDA	molecular function
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0070131	positive regulation of mitochondrial translation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1990613	mitochondrial membrane fusion	IMP	biological process

Diseases

Associated diseases	References
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	PMID:12073013
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq