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RINL Ras and Rab interactor like [ Homo sapiens (human) ]

Gene ID: 126432, updated on 2-Nov-2024

Summary

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Official Symbol
RINLprovided by HGNC
Official Full Name
Ras and Rab interactor likeprovided by HGNC
Primary source
HGNC:HGNC:24795
See related
Ensembl:ENSG00000187994 MIM:620678; AllianceGenome:HGNC:24795
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
Summary
Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in endocytosis. Predicted to be located in ruffle. Predicted to be active in cytosol and endocytic vesicle. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in lymph node (RPKM 5.2), spleen (RPKM 3.4) and 25 other tissues See more
Orthologs
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Genomic context

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See RINL in Genome Data Viewer
Location:
19q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38867830..38878275, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41671881..41682331, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39358470..39368915, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak3474 silencer Neighboring gene uncharacterized LOC124904712 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr19:39314813-39315370 Neighboring gene enoyl-CoA hydratase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39333551-39334051 Neighboring gene heterogeneous nuclear ribonucleoprotein L Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39338887-39339825 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39339826-39340763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39343185-39343829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10587 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:39350790-39350958 Neighboring gene Sharpr-MPRA regulatory region 3140 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39356343-39356918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39360061-39360631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39360661-39361267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39361268-39361873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14603 Neighboring gene sirtuin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39384205-39384706 Neighboring gene NFKB inhibitor beta

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. RINL, guanine nucleotide exchange factor Rab5-subfamily, is involved in the EphA8-degradation pathway with odin. Kajiho H, et al. PLoS One, 2012. PMID 22291991, Free PMC Article
  2. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article
  3. Upregulation of RIN3 induces endosomal dysfunction in Alzheimer's disease. Shen R, et al. Transl Neurodegener, 2020 Jun 18. PMID 32552912, Free PMC Article
  4. The human cytoplasmic dynein interactome reveals novel activators of motility. Redwine WB, et al. Elife, 2017 Jul 18. PMID 28718761, Free PMC Article
  5. Physical and functional interactome atlas of human receptor tyrosine kinases. Salokas K, et al. EMBO Rep, 2022 Jun 7. PMID 35384245, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RINL, as a GEF for Rab5 subfamily, is implicated in the EphA8-degradation pathway via its interaction with odin.
    Title: RINL, guanine nucleotide exchange factor Rab5-subfamily, is involved in the EphA8-degradation pathway with odin.
  2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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

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

  • FLJ44131, FLJ45909

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IEA
Inferred from Electronic Annotation
more info
  
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables guanyl-nucleotide exchange factor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in endocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ruffle ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
ras and Rab interactor-like protein

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_001195833.2 → NP_001182762.1  ras and Rab interactor-like protein isoform 1

    See identical proteins and their annotated locations for NP_001182762.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC011455, AK298327
    Consensus CDS
    CCDS59386.1
    UniProtKB/Swiss-Prot
    B4DPG5, Q6ZS11
    Related
    ENSP00000467107.1, ENST00000591812.2
    Conserved Domains (2) summary
    pfam02204
    Location:409 → 511
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    cl15255
    Location:40 → 131
    SH2; Src homology 2 (SH2) domain

  2. NM_198445.4 → NP_940847.1  ras and Rab interactor-like protein isoform 2

    See identical proteins and their annotated locations for NP_940847.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC011455, AK298327, DA814564
    Consensus CDS
    CCDS12522.1
    UniProtKB/Swiss-Prot
    Q6ZS11
    Related
    ENSP00000469568.1, ENST00000598904.5
    Conserved Domains (1) summary
    pfam02204
    Location:295 → 397
    VPS9; Vacuolar sorting protein 9 (VPS9) domain

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    38867830..38878275 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526455.4 → XP_011524757.1  ras and Rab interactor-like protein isoform X2

    Conserved Domains (2) summary
    pfam02204
    Location:377 → 479
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    cl15255
    Location:40 → 131
    SH2; Src homology 2 (SH2) domain

  2. XM_006723015.4 → XP_006723078.1  ras and Rab interactor-like protein isoform X1

    See identical proteins and their annotated locations for XP_006723078.1

    Conserved Domains (2) summary
    pfam02204
    Location:409 → 511
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    cl15255
    Location:40 → 131
    SH2; Src homology 2 (SH2) domain

  3. XM_011526454.4 → XP_011524756.1  ras and Rab interactor-like protein isoform X1

    See identical proteins and their annotated locations for XP_011524756.1

    Conserved Domains (2) summary
    pfam02204
    Location:409 → 511
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    cl15255
    Location:40 → 131
    SH2; Src homology 2 (SH2) domain

  4. XM_024451363.2 → XP_024307131.1  ras and Rab interactor-like protein isoform X3

    Conserved Domains (1) summary
    pfam02204
    Location:295 → 397
    VPS9; Vacuolar sorting protein 9 (VPS9) domain

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_014040929.1 Reference GRCh38.p14 PATCHES

    Range
    277497..287947 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331940.1 → XP_054187915.1  ras and Rab interactor-like protein isoform X2

  2. XM_054331938.1 → XP_054187913.1  ras and Rab interactor-like protein isoform X1

  3. XM_054331939.1 → XP_054187914.1  ras and Rab interactor-like protein isoform X1

  4. XM_054331941.1 → XP_054187916.1  ras and Rab interactor-like protein isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    41671881..41682331 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319817.1 → XP_054175792.1  ras and Rab interactor-like protein isoform X2

  2. XM_054319815.1 → XP_054175790.1  ras and Rab interactor-like protein isoform X1

  3. XM_054319816.1 → XP_054175791.1  ras and Rab interactor-like protein isoform X1

  4. XM_054319818.1 → XP_054175793.1  ras and Rab interactor-like protein isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZS11.2 GenPept UniProtKB/Swiss-Prot:Q6ZS11

Gene LinkOut

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