RTP5

Summary

RTP5 (receptor transporter protein 5 (putative), HGNC:26585) is a protein-coding gene on chromosome 2q37.3, encoding Receptor-transporting protein 5 (Q14D33).

Predicted to enable olfactory receptor binding activity. Predicted to be involved in detection of chemical stimulus involved in sensory perception of bitter taste; protein insertion into membrane; and protein targeting to membrane. Predicted to be located in membrane.

Source: NCBI Gene 285093 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 119 total
• MANE Select transcript: NM_173821

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26585
Approved symbol	RTP5
Name	receptor transporter protein 5 (putative)
Location	2q37.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ33590, Z3CXXC5
Ensembl gene	ENSG00000188011
Ensembl biotype	protein_coding
Entrez	285093

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay

ENST00000343216, ENST00000419912

RefSeq mRNA: 1 — MANE Select: NM_173821 NM_173821

CCDS: CCDS42843

Canonical transcript exons

ENST00000343216 — 2 exons

Exon	Start	End
ENSE00001374288	241871714	241873823
ENSE00001386961	241869729	241869914

Expression profiles

Bgee: expression breadth ubiquitous, 102 present calls, max score 97.98.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.1116 / max 207.5145, expressed in 80 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
26592	1.0952	80
26593	0.0164	8

Top tissues by expression

121 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	97.98	gold quality
hypothalamus	UBERON:0001898	92.13	gold quality
nucleus accumbens	UBERON:0001882	90.40	gold quality
temporal lobe	UBERON:0001871	90.35	gold quality
amygdala	UBERON:0001876	90.31	gold quality
Ammon’s horn	UBERON:0001954	89.42	gold quality
anterior cingulate cortex	UBERON:0009835	85.51	gold quality
caudate nucleus	UBERON:0001873	84.71	gold quality
putamen	UBERON:0001874	82.69	gold quality
right frontal lobe	UBERON:0002810	79.95	gold quality
cerebral cortex	UBERON:0000956	79.86	gold quality
superior frontal gyrus	UBERON:0002661	79.35	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	78.38	gold quality
substantia nigra	UBERON:0002038	77.90	gold quality
Brodmann (1909) area 9	UBERON:0013540	77.15	gold quality
frontal cortex	UBERON:0001870	77.03	gold quality
prefrontal cortex	UBERON:0000451	74.88	gold quality
brain	UBERON:0000955	74.84	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	72.20	gold quality
granulocyte	CL:0000094	69.86	gold quality
primary visual cortex	UBERON:0002436	64.78	gold quality
lymph node	UBERON:0000029	63.84	gold quality
cortical plate	UBERON:0005343	63.38	gold quality
spleen	UBERON:0002106	61.62	gold quality
blood	UBERON:0000178	60.00	gold quality
right hemisphere of cerebellum	UBERON:0014890	57.90	gold quality
cerebellar hemisphere	UBERON:0002245	56.06	gold quality
cerebellum	UBERON:0002037	55.96	gold quality
cerebellar cortex	UBERON:0002129	55.85	gold quality
ganglionic eminence	UBERON:0004023	53.39	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (4): RTP4 (ENSG00000136514), RTP3 (ENSG00000163825), RTP1 (ENSG00000175077), RTP2 (ENSG00000198471)

Protein

Protein identifiers

Receptor-transporting protein 5 — Q14D33 (reviewed: Q14D33)

Alternative names: 3CxxC-type zinc finger protein 5, CXXC-type zinc finger protein 11

All UniProt accessions (2): F8WB75, Q14D33

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_776182* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026096	R-trans_p	Family
IPR027377	ZAR1/RTP1-5-like_Znf-3CxxC	Domain

Pfam: PF13695

UniProt features (6 total): sequence variant 2, chain 1, transmembrane region 1, zinc finger region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14D33-F1	48.61	0.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (3): detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580), protein targeting to membrane (GO:0006612), protein insertion into membrane (GO:0051205)

GO Molecular Function (4): zinc ion binding (GO:0008270), olfactory receptor binding (GO:0031849), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
establishment of protein localization to membrane	2
detection of chemical stimulus involved in sensory perception of taste	1
sensory perception of bitter taste	1
protein targeting	1
intracellular protein localization	1
membrane organization	1
transition metal ion binding	1
G protein-coupled receptor binding	1
binding	1
cation binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

320 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RTP5	MAB21L4	Q08AI8	418
RTP5	ANKMY1	Q9P2S6	418
RTP5	CFAP299	Q6V702	413
RTP5	RNPEPL1	Q9HAU8	393
RTP5	THAP4	Q8WY91	370
RTP5	SACK1C	Q9BQN1	370
RTP5	MINDY4	Q4G0A6	321
RTP5	MEGF11	A6BM72	305
RTP5	SPRR2E	P22531	290
RTP5	KRT6C	P48666	277
RTP5	ANO7	Q6IWH7	276
RTP5	SNED1	Q8TER0	271
RTP5	CABP1	Q9NZU7	271
RTP5	KRTDAP	P60985	270
RTP5	FARP2	O94887	262

IntAct

188 interactions, top by confidence:

A	B	Type	Score
RTP5	ACTN2	psi-mi:“MI:0915”(physical association)	0.780
ACTN2	RTP5	psi-mi:“MI:0915”(physical association)	0.780
PSTPIP1	RTP5	psi-mi:“MI:0915”(physical association)	0.720
RTP5	CALCOCO2	psi-mi:“MI:0915”(physical association)	0.720
PNMA1	RTP5	psi-mi:“MI:0915”(physical association)	0.720
MDFI	RTP5	psi-mi:“MI:0915”(physical association)	0.720
ROPN1	RTP5	psi-mi:“MI:0915”(physical association)	0.720
RTP5	PSTPIP1	psi-mi:“MI:0915”(physical association)	0.720
CALCOCO2	RTP5	psi-mi:“MI:0915”(physical association)	0.720
RTP5	ROPN1	psi-mi:“MI:0915”(physical association)	0.720
RTP5	MDFI	psi-mi:“MI:0915”(physical association)	0.720
RTP5	PNMA1	psi-mi:“MI:0915”(physical association)	0.720
PSMA6	RTP5	psi-mi:“MI:0915”(physical association)	0.560
RTP5	SP100	psi-mi:“MI:0915”(physical association)	0.560
RTP5	PSMA3	psi-mi:“MI:0915”(physical association)	0.560
RTP5	TRIM23	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	RTP5	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (62): RTP5 (Two-hybrid), RTP5 (Two-hybrid), RTP5 (Two-hybrid), RTP5 (Two-hybrid), RTP5 (Two-hybrid), RTP5 (Two-hybrid), RTP5 (Two-hybrid), RTP5 (Two-hybrid), RTP5 (Two-hybrid), RTP5 (Two-hybrid), RTP5 (Two-hybrid), RTP5 (Two-hybrid), RTP5 (Two-hybrid), RTP5 (Two-hybrid), RTP5 (Two-hybrid)

ESM2 similar proteins: A0A0J9YXV3, A0A172M4N0, A2VE23, A5PL33, C7EMF5, E7EW31, F1NSM7, I3L273, O15027, O48582, O55189, O55196, O97939, P0C671, P0DV77, P14138, Q14D33, Q1XI13, Q28989, Q3B7M4, Q4R729, Q5R7U0, Q5SWP3, Q62840, Q63003, Q6E0U4, Q6H236, Q6NUN9, Q6UXA7, Q7Z2K8, Q86UU5, Q8BM15, Q8K4E0, Q8K4L6, Q8N1P7, Q8N3D4, Q96D09, Q96JG9, Q9BGL9, Q9D7G9

Diamond homologs: Q14D33, Q5QGT7, Q5QGU6, Q80ZI2, Q96DX8, Q9BQQ7, P59025, Q8C8C1, Q95JK0, Q9ER80

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 53 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of the cornified envelope	6	16.5×	1e-04
Keratinization	8	13.9×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	5	37.4×	3e-05
intermediate filament organization	6	31.4×	9e-06
epithelial cell differentiation	5	19.1×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

119 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	102
Likely benign	14
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

458 predictions. Top by Δscore:

Variant	Effect	Δscore
2:241869816:G:GT	donor_gain	1.0000
2:241869826:G:GT	donor_gain	1.0000
2:241869882:T:TA	donor_gain	1.0000
2:241869883:G:GA	donor_gain	1.0000
2:241869886:GTCC:G	donor_gain	1.0000
2:241871709:CGCA:C	acceptor_loss	1.0000
2:241871710:GCA:G	acceptor_loss	1.0000
2:241871711:CAG:C	acceptor_loss	1.0000
2:241871712:A:AC	acceptor_loss	1.0000
2:241871712:A:AG	acceptor_gain	1.0000
2:241871713:G:GG	acceptor_gain	1.0000
2:241869890:A:AG	donor_gain	0.9900
2:241869891:G:GG	donor_gain	0.9900
2:241869911:CGAG:C	donor_loss	0.9900
2:241869914:GGTGC:G	donor_loss	0.9900
2:241869915:GTG:G	donor_loss	0.9900
2:241871706:C:CA	acceptor_gain	0.9900
2:241871709:C:A	acceptor_gain	0.9900
2:241871712:AG:A	acceptor_gain	0.9900
2:241871713:GG:G	acceptor_gain	0.9900
2:241869884:G:GG	donor_gain	0.9800
2:241871713:GGC:G	acceptor_gain	0.9800
2:241871713:GGCT:G	acceptor_gain	0.9800
2:241869895:C:G	donor_gain	0.9600
2:241871713:GGCTC:G	acceptor_gain	0.9600
2:241871711:CAGG:C	acceptor_gain	0.9400
2:241869874:G:GT	donor_gain	0.9300
2:241869885:TGTC:T	donor_gain	0.9300
2:241871709:CGCAG:C	acceptor_gain	0.9300
2:241871710:GCAGG:G	acceptor_gain	0.9300

AlphaMissense

3727 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:241871769:T:C	F72L	0.991
2:241871771:C:A	F72L	0.991
2:241871771:C:G	F72L	0.991
2:241869834:G:C	W26C	0.985
2:241869834:G:T	W26C	0.985
2:241869783:G:C	W9C	0.981
2:241869783:G:T	W9C	0.981
2:241869832:T:A	W26R	0.979
2:241869832:T:C	W26R	0.979
2:241869794:T:C	F13S	0.975
2:241871770:T:C	F72S	0.974
2:241873212:T:C	C553R	0.974
2:241871744:G:C	W63C	0.972
2:241871744:G:T	W63C	0.972
2:241873221:T:A	W556R	0.972
2:241873221:T:C	W556R	0.972
2:241871825:G:C	W90C	0.964
2:241871825:G:T	W90C	0.964
2:241869781:T:A	W9R	0.961
2:241869781:T:C	W9R	0.961
2:241871917:T:C	I121T	0.961
2:241871835:T:A	C94S	0.958
2:241871836:G:C	C94S	0.958
2:241871835:T:C	C94R	0.954
2:241872012:T:C	F153L	0.953
2:241872014:C:A	F153L	0.953
2:241872014:C:G	F153L	0.953
2:241871813:G:C	K86N	0.951
2:241871813:G:T	K86N	0.951
2:241871917:T:A	I121N	0.951

dbSNP variants (sampled 300 via entrez): RS1000007861 (2:241871223 G>A,C), RS1000175602 (2:241871746 A>G), RS1000249206 (2:241871613 C>G,T), RS1000796703 (2:241867947 G>A), RS1001248801 (2:241870680 T>C,G), RS1001652081 (2:241872743 C>T), RS1001772854 (2:241869180 C>T), RS1002780725 (2:241870156 C>T), RS1002807144 (2:241869972 G>A,C), RS1003064693 (2:241873994 G>A), RS1003140572 (2:241872640 C>T), RS1003271287 (2:241869052 G>A), RS1003681333 (2:241870641 C>A), RS1003816816 (2:241870800 C>A,T), RS1004073928 (2:241872011 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002097_3	Coronary artery calcification	1.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004723	coronary artery calcification

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	2
pentanal	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.