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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
    mouse all
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    Genomic context

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    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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