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    RILPL1 Rab interacting lysosomal protein like 1 [ Homo sapiens (human) ]

    Gene ID: 353116, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RILPL1provided by HGNC
    Official Full Name
    Rab interacting lysosomal protein like 1provided by HGNC
    Primary source
    HGNC:HGNC:26814
    See related
    Ensembl:ENSG00000188026 MIM:614092; AllianceGenome:HGNC:26814
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RLP1; OPDM4; GOSPEL
    Summary
    Predicted to enable dynein light intermediate chain binding activity and small GTPase binding activity. Predicted to be involved in several processes, including epithelial cell morphogenesis; nitric oxide mediated signal transduction; and protein transport from ciliary membrane to plasma membrane. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in oculopharyngodistal myopathy 4. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in heart (RPKM 11.5), thyroid (RPKM 5.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RILPL1 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123470054..123533719, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123468958..123532572, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123954601..124018266, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene lysine methyltransferase 5A Neighboring gene Rab interacting lysosomal protein like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123920207-123921136 Neighboring gene uncharacterized LOC124903041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7269 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5045 Neighboring gene COP9 signalosome subunit 5 pseudogene 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123942373-123943239 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123943240-123944105 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:123949657-123950158 Neighboring gene Sharpr-MPRA regulatory region 13608 Neighboring gene small nuclear ribonucleoprotein U11/U12 subunit 35 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123977430-123978241 Neighboring gene Sharpr-MPRA regulatory region 11641 Neighboring gene Sharpr-MPRA regulatory region 13563 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124000442-124000942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124017267-124018084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5046 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124019009-124019194 Neighboring gene microRNA 3908 Neighboring gene uncharacterized LOC124903042

    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 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. A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy. Yang X, et al. BMC Med Genomics, 2023 Oct 20. PMID 37864208, Free PMC Article
    2. The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4. Yu J, et al. Am J Hum Genet, 2022 Mar 3. PMID 35148830, Free PMC Article
    3. Enhancement by GOSPEL protein of GAPDH aggregation induced by nitric oxide donor and its inhibition by NAD(.). González MC, et al. FEBS Lett, 2016 Jul. PMID 27282776
    4. RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase-mediated centrosomal cohesion and ciliogenesis deficits. Lara Ordónez AJ, et al. Hum Mol Genet, 2019 Nov 1. PMID 31428781, Free PMC Article
    5. The Rilp-like proteins Rilpl1 and Rilpl2 regulate ciliary membrane content. Schaub JR, et al. Mol Biol Cell, 2013 Feb. PMID 23264467, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.
      Title: A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.
    2. The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
      Title: The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
    3. Pathogenic LRRK2 causes the centrosomal accumulation not only of phosho-RAB8 but also of phospho-RAB10, and the effects on centrosomal cohesion are dependent on RAB8, RAB10 and RILPL1.
      Title: RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase-mediated centrosomal cohesion and ciliogenesis deficits.
    4. NAD(+) inhibited both GAPDH aggregation and co-aggregation with GOSPEL, a hitherto undescribed effect of the coenzyme against the consequences of oxidative stress.
      Title: Enhancement by GOSPEL protein of GAPDH aggregation induced by nitric oxide donor and its inhibition by NAD(.).
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Oculopharyngodistal myopathy 4
    MedGen: C5676941 OMIM: 619790 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog

    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

    • FLJ39378, MGC99793, MGC105128

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epithelial cell morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in nitric oxide mediated signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein transport from ciliary membrane to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    RILP-like protein 1
    Names
    GAPDH competitor of SIAH protein enhances life

    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_001319243.2 → NP_001306172.1  RILP-like protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a shorter, distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC055713, AC145423, AK096697, BC080626, BX359997
      Consensus CDS
      CCDS81752.1
      UniProtKB/TrEMBL
      A0A1B0GVV3
      Related
      ENSP00000490668.1, ENST00000636882.1
      Conserved Domains (3) summary
      pfam09744
      Location:28 → 174
      Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
      pfam11461
      Location:296 → 348
      RILP; Rab interacting lysosomal protein
      cl25732
      Location:147 → 321
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_001319244.2 → NP_001306173.1  RILP-like protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (3) has a shorter, distinct N-terminus compared to isoform 1. Variants 3 and 4 encode the same isoform (3).
      Source sequence(s)
      AC145423, BC080626
      UniProtKB/Swiss-Prot
      Q5EBL4
      Conserved Domains (1) summary
      pfam11461
      Location:145 → 197
      RILP; Rab interacting lysosomal protein

    3. NM_001319302.2 → NP_001306231.1  RILP-like protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (3) has a shorter, distinct N-terminus compared to isoform 1. Variants 3 and 4 encode the same isoform (3).
      Source sequence(s)
      AC145423
      UniProtKB/Swiss-Prot
      Q5EBL4
      Conserved Domains (1) summary
      pfam11461
      Location:145 → 197
      RILP; Rab interacting lysosomal protein

    4. NM_178314.5 → NP_847884.2  RILP-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_847884.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC055713, AC145423, BC080626, BC089444, BX281699, BX359997
      Consensus CDS
      CCDS45006.1
      UniProtKB/Swiss-Prot
      Q5EBL4, Q66K36, Q8N1M0
      Related
      ENSP00000366070.4, ENST00000376874.9
      Conserved Domains (2) summary
      pfam09744
      Location:28 → 174
      Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
      pfam11461
      Location:296 → 348
      RILP; Rab interacting lysosomal protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      123470054..123533719 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428787.1 → XP_047284743.1  RILP-like protein 1 isoform X1

    2. XM_047428788.1 → XP_047284744.1  RILP-like protein 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      123468958..123532572 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371955.1 → XP_054227930.1  RILP-like protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5EBL4.1 GenPept UniProtKB/Swiss-Prot:Q5EBL4

    Gene LinkOut

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

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