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

Summary

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

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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

D19S613E (e-PCR)
- UniSTS:150542

WIAF-1625 (e-PCR)
- UniSTS:76560

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

D7S511 (e-PCR)
- UniSTS:10880

NoName (e-PCR)
- UniSTS:484487

D11S3114 (e-PCR)
- UniSTS:152207

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)

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
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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

38867830..38878275 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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