RCC1L

Protein identityUniProt · HPA

UniProt accession

Q96I51

Gene

RCC1L

Ensembl

ENSG00000274523

Chromosome

7

Canonical length

464 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

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 syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

464 residues, UniProt reviewed canonical sequence.

>Q96I51|RCC1L
     1  MALVALVAGA RLGRRLSGPG LGRGHWTAAG RSRSRREAAE AEAEVPVVQY VGERAARADR
    61  VFVWGFSFSG ALGVPSFVVP SSGPGPRAGA RPRRRIQPVP YRLELDQKIS SAACGYGFTL
   121  LSSKTADVTK VWGMGLNKDS QLGFHRSRKD KTRGYEYVLE PSPVSLPLDR PQETRVLQVS
   181  CGRAHSLVLT DREGVFSMGN NSYGQCGRKV VENEIYSESH RVHRMQDFDG QVVQVACGQD
   241  HSLFLTDKGE VYSCGWGADG QTGLGHYNIT SSPTKLGGDL AGVNVIQVAT YGDCCLAVSA
   301  DGGLFGWGNS EYLQLASVTD STQVNVPRCL HFSGVGKVRQ AACGGTGCAV LNGEGHVFVW
   361  GYGILGKGPN LVESAVPEMI PPTLFGLTEF NPEIQVSRIR CGLSHFAALT NKGELFVWGK
   421  NIRGCLGIGR LEDQYFPWRV TMPGEPVDVA CGVDHMVTLA KSFI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RCC1L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

86 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.96

gnomAD pLI

0

DepMap mean gene effect

-0.28

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 22% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial fusion
• mitochondrial large ribosomal subunit assembly
• mitochondrial small ribosomal subunit assembly

Molecular functions

• GTP binding
• guanyl-nucleotide exchange factor activity
• RNA binding
• rRNA binding

Cellular components

• mitochondrial inner membrane
• mitochondrial matrix
• mitochondrial membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Regulator of chromosome condensation, RCC1
• Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
• RCC1-like domain
• Regulator of chromosome condensation (RCC1) repeat
• RCC1-like domain
• Mitochondrial GEF domain-containing protein

KeywordsUniProt

• GTP-binding
• Guanine-nucleotide releasing factor
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Nucleotide-binding
• Repeat
• RNA-binding
• rRNA-binding
• Transit peptide
• Williams-Beuren syndrome

InteractionsUniProt · HPA

Protein binding partners of RCC1L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NME6
• OPA1
• RPUSD4
• TRUB2