RTP1 receptor transporter protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RTP1provided by HGNC
Official Full Name: receptor transporter protein 1provided by HGNC
Primary source: HGNC:HGNC:28580
See related: Ensembl:ENSG00000175077 MIM:609137; AllianceGenome:HGNC:28580
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: Z3CXXC1
Summary: Enables olfactory receptor binding activity. Involved in protein insertion into membrane. Located in cell surface. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (187197486..187201462)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (190014908..190018884)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (186915274..186919250)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

using recombinant proteins and split luciferase assays in mammalian cells, we provided evidence for the dimer formation of RTP1S. Furthermore, we determined that the 2nd Cys residue is required for the efficient dimerization of RTP1S. Altogether, these findings provide insights into the mechanism for plasma membrane transport of odorant receptors (ORs) by RTP1S.
Title: The N-terminal region of RTP1S plays important roles in dimer formation and odorant receptor-trafficking.
Taken together, these results demonstrate DYNC1H1 as a strong candidate and RTP1 as a potential candidate on the onset of epileptic encephalopathies.
Title: Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.
further cell-surface and permeabilized immunocytochemical studies revealed that odorant receptors (ORs) and the co-expressed RTP1S proteins were retained in the Golgi when co-transfected with RTP2, indicating that RTP1S and RTP2 could play different roles in the OR trafficking process.
Title: Receptor-transporting protein (RTP) family members play divergent roles in the functional expression of odorant receptors.
Receptor-transporting protein 1 short (RTP1S) mediates translocation and activation of odorant receptors by acting through multiple steps
Title: Receptor-transporting protein 1 short (RTP1S) mediates translocation and activation of odorant receptors by acting through multiple steps.
RTP and REEP gene expression in human circumvallate papillae and testis, both of which are sites of taste receptor gene expression.
Title: Members of RTP and REEP gene families influence functional bitter taste receptor expression.

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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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Homology

Homologs of the RTP1 gene: The RTP1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 183 organisms have orthologs with human gene RTP1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables olfactory receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables olfactory receptor binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in detection of chemical stimulus involved in sensory perception of bitter taste	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in protein insertion into membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in protein insertion into membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein targeting to membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: receptor-transporting protein 1

Names: 3CxxC-type zinc finger protein 1; receptor (chemosensory) transporter protein 1; zinc finger, 3CxxC-type 1

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.