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

Gene ID: 353116, updated on 1-Jun-2020

Summary

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
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; GOSPEL
Expression
Broad expression in heart (RPKM 11.5), thyroid (RPKM 5.2) and 23 other tissues See more
Orthologs

Genomic context

See RILPL1 in Genome Data Viewer
Location:
12q24.31
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (123470054..123533719, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123955909..124018265, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Rab interacting lysosomal protein like 2 Neighboring gene COP9 signalosome subunit 5 pseudogene 2 Neighboring gene small nuclear ribonucleoprotein U11/U12 subunit 35 Neighboring gene Sharpr-MPRA regulatory region 11641 Neighboring gene microRNA 3908 Neighboring gene TMED2 divergent transcript

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39378, MGC99793, MGC105128

Gene Ontology Provided by GOA

Function Evidence Code Pubs
dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
epithelial cell morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
protein transport from ciliary membrane to plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neuron death ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
centriole IEA
Inferred from Electronic Annotation
more info
 
centrosome ISS
Inferred from Sequence or Structural Similarity
more info
 
cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001319243.2NP_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/Swiss-Prot
    Q5EBL4
    UniProtKB/TrEMBL
    A0A1B0GVV3
    Related
    ENSP00000490668.1, ENST00000636882.1
    Conserved Domains (3) summary
    pfam09744
    Location:28174
    Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
    pfam11461
    Location:296348
    RILP; Rab interacting lysosomal protein
    cl25732
    Location:147321
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001319244.1NP_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:145197
    RILP; Rab interacting lysosomal protein
  3. NM_001319302.1NP_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:145197
    RILP; Rab interacting lysosomal protein
  4. NM_178314.5NP_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
    Related
    ENSP00000366070.4, ENST00000376874.9
    Conserved Domains (2) summary
    pfam09744
    Location:28174
    Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
    pfam11461
    Location:296348
    RILP; Rab interacting lysosomal protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006719372.2XP_006719435.1  RILP-like protein 1 isoform X1

    Conserved Domains (2) summary
    pfam09744
    Location:28174
    Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
    pfam11461
    Location:296348
    RILP; Rab interacting lysosomal protein
  2. XM_011538282.2XP_011536584.1  RILP-like protein 1 isoform X2

    Conserved Domains (2) summary
    pfam11461
    Location:228280
    RILP; Rab interacting lysosomal protein
    cl23720
    Location:35106
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  3. XM_011538284.2XP_011536586.1  RILP-like protein 1 isoform X4

    See identical proteins and their annotated locations for XP_011536586.1

    Conserved Domains (1) summary
    pfam11461
    Location:142194
    RILP; Rab interacting lysosomal protein
  4. XM_011538285.3XP_011536587.1  RILP-like protein 1 isoform X4

    See identical proteins and their annotated locations for XP_011536587.1

    Conserved Domains (1) summary
    pfam11461
    Location:142194
    RILP; Rab interacting lysosomal protein
  5. XM_006719373.3XP_006719436.1  RILP-like protein 1 isoform X3

    Conserved Domains (1) summary
    pfam11461
    Location:145197
    RILP; Rab interacting lysosomal protein

RNA

  1. XR_944537.2 RNA Sequence

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