RCC1L (RCC1 like)

Gene

• Entrez ID: 81554
• Gene name: RCC1 like
• Gene symbol: RCC1L
• Synonyms (NCBI Gene): WBSCR16
• Chromosome: 7
• Chromosome location: 7q11.23
• Summary: 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	28746876
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	21988832, 27499296, 28746876, 32814053, 33961781, 34789336, 37439264
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IDA	32735630
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	27974379
GO:0008053	Process	Mitochondrial fusion	IEA
GO:0008053	Process	Mitochondrial fusion	IMP	28746876
GO:0016020	Component	Membrane	IEA
GO:0019843	Function	RRNA binding	IBA
GO:0019843	Function	RRNA binding	IDA	27667664
GO:0019843	Function	RRNA binding	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	27667664, 28608466, 28746876
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0180026	Process	Mitochondrial small ribosomal subunit assembly	IMP	32735630
GO:1902775	Process	Mitochondrial large ribosomal subunit assembly	IMP	27667664, 32735630

Other IDs

• MIM: 620739
• HGNC: 14948
• e!Ensembl: ENSG00000274523

Protein

• UniProt ID: Q96I51
• Protein name: RCC1-like G exchanging factor-like protein (RCC1-like protein) (Williams-Beuren syndrome chromosomal region 16 protein)
• Protein function: Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1-dependent mitochondrial fusion (PubMed:28746876). Plays an essential role in m
• PDB: 5XGS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00415	RCC1	58 → 122	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	130 → 189	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF13540	RCC1_2	232 → 261		Repeat
  PF00415	RCC1	301 → 351	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	412 → 459	Regulator of chromosome condensation (RCC1) repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12073013}.
• Sequence:

  MALVALVAGARLGRRLSGPGLGRGHWTAARRSRSRREAAEAEAEVPVVQYVGERAARADR
  VFVWGFSFSGALGVPSFVVPSSGPGPRAGARPRRRIQPVPYRLELDQKISSAACGYGFTL
  LSSKTADVTKVWGMGLNKDSQLGFHRSRKDKTRGYEYVLEPSPVSLPLDRPQETRVLQVS
  CGRAHSLVLTDREGVFSMGNNSYGQCGRKVVENEIYSESHRVHRMQDFDGQVVQVACGQD
  HSLFLTDKGEVYSCGWGADGQTGLGHYNITSSPTKLGGDLAGVNVIQVATYGDCCLAVSA
  DGGLFGWGNSEYLQLASVTDSTQVNVPRCLHFSGVGKVRQAACGGTGCAVLNGEGHVFVW
  GYGILGKGPNLVESAVPEMIPPTLFGLTEFNPEIQVSRIRCGLSHFAALTNKGELFVWGK
  NIRGCLGIGRLEDQYFPWRVTMPGEPVDVACGVDHMVTLAKSFI

• Sequence length: 464

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
WILLIAMS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Williams Syndrome	Williams Syndrome	BEFREE	28608466		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams syndrome	Pubtator	28608466	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	16052169, 17249551		★☆☆☆☆ Found in Text Mining only