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

    Gene ID: 126432, updated on 10-Dec-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, Dec 2024]
    Expression
    Broad expression in lymph node (RPKM 5.2), spleen (RPKM 3.4) and 25 other tissues See more
    Orthologs
    mouse all
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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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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)

    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

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

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