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

Gene ID: 353116, updated on 2-Nov-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, Nov 2024]
Expression
Broad expression in heart (RPKM 11.5), thyroid (RPKM 5.2) and 23 other tissues See more
Orthologs
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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.

Chemical Information
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