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RCC1L RCC1 like [ Homo sapiens (human) ]

Gene ID: 81554, updated on 5-Mar-2024

Summary

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Official Symbol
RCC1Lprovided by HGNC
Official Full Name
RCC1 likeprovided by HGNC
Primary source
HGNC:HGNC:14948
See related
Ensembl:ENSG00000274523 MIM:620739; AllianceGenome:HGNC:14948
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WBSCR16
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 syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression
Ubiquitous expression in kidney (RPKM 12.5), fat (RPKM 10.7) and 25 other tissues See more
Orthologs
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Genomic context

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See RCC1L in Genome Data Viewer
Location:
7q11.23
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75027119..75073802, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76229380..76277791, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74441223..74489638, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 5 Neighboring gene speedy/RINGO cell cycle regulator family member E12 Neighboring gene uncharacterized LOC105375352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18289 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:74387918-74388452 Neighboring gene cytosolic arginine sensor for mTORC1 subunit 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74408133-74408753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74836976-74837481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74785909-74786408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18290 Neighboring gene Williams-Beuren syndrome telomeric block B recombination region Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74267014-74267744 Neighboring gene GTF2I repeat domain containing 2B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74578607-74579107 Neighboring gene neutrophil cytosolic factor 1C (pseudogene)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases. Reyes A, et al. PLoS Genet, 2020 Jul. PMID 32735630, Free PMC Article
  2. NME6 is a phosphotransfer-inactive, monomeric NME/NDPK family member and functions in complexes at the interface of mitochondrial inner membrane and matrix. Proust B, et al. Cell Biosci, 2021 Nov 17. PMID 34789336, Free PMC Article
  3. Crystal structure of human WBSCR16, an RCC1-like protein in mitochondria. Koyama M, et al. Protein Sci, 2017 Sep. PMID 28608466, Free PMC Article
  4. WBSCR16 Is a Guanine Nucleotide Exchange Factor Important for Mitochondrial Fusion. Huang G, et al. Cell Rep, 2017 Jul 25. PMID 28746876, Free PMC Article
  5. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Merla G, et al. Hum Genet, 2002 May. PMID 12073013

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC44931, MGC189739, DKFZp434D0421

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables RNA binding HDA PubMed 
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables rRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables rRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in mitochondrial fusion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of mitochondrial translation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of mitochondrial translation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
RCC1-like G exchanging factor-like protein
Names
Williams-Beuren syndrome chromosomal region 16 protein
Williams-Beuren syndrome chromosome region 16

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001281441.2 → NP_001268370.1  RCC1-like G exchanging factor-like protein isoform 3

    See identical proteins and their annotated locations for NP_001268370.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks multiple 3' coding exons and contains an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC040695
    Consensus CDS
    CCDS64684.1
    UniProtKB/Swiss-Prot
    Q96I51
    Related
    ENSP00000480781.1, ENST00000618035.4
    Conserved Domains (2) summary
    pfam00415
    Location:301 → 351
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:232 → 261
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat

  2. NM_001363447.2 → NP_001350376.1  RCC1-like G exchanging factor-like protein isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC245150, BC007823, HY175052
    UniProtKB/TrEMBL
    B2RXG5
    Conserved Domains (1) summary
    cl27697
    Location:29 → 329
    RCC1; Regulator of chromosome condensation (RCC1) repeat

  3. NM_030798.5 → NP_110425.2  RCC1-like G exchanging factor-like protein isoform 1

    See identical proteins and their annotated locations for NP_110425.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL536085, BC007823
    Consensus CDS
    CCDS5577.1
    UniProtKB/Swiss-Prot
    D3DXK0, F5GX55, F5H6C7, Q548B1, Q8IW88, Q8N572, Q96I51, Q9H0G7
    Related
    ENSP00000480364.1, ENST00000610322.5
    Conserved Domains (2) summary
    pfam00415
    Location:412 → 455
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:232 → 261
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat

  4. NM_148842.3 → NP_683682.1  RCC1-like G exchanging factor-like protein isoform 2

    See identical proteins and their annotated locations for NP_683682.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks the 3' coding exon and contains an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL536085, BC032712
    Consensus CDS
    CCDS64683.1
    UniProtKB/Swiss-Prot
    Q96I51
    Related
    ENSP00000477659.1, ENST00000614461.4
    Conserved Domains (2) summary
    pfam00415
    Location:301 → 351
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:232 → 261
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    75027119..75073802 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    76229380..76277791 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96I51.3 GenPept UniProtKB/Swiss-Prot:Q96I51

Gene LinkOut

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