RFPL4AL1

Summary

RFPL4AL1 (ret finger protein like 4A like 1, HGNC:45147) is a protein-coding gene on chromosome 19q13.42, encoding Ret finger protein-like 4A-like protein 1 (F8VTS6).

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in innate immune response and regulation of gene expression. Predicted to be active in cytoplasm.

Source: NCBI Gene 729974 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001277397

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:45147
Approved symbol	RFPL4AL1
Name	ret finger protein like 4A like 1
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Aliases	RNF210B
Ensembl gene	ENSG00000229292
Ensembl biotype	protein_coding
Entrez	729974

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000341750

RefSeq mRNA: 1 — MANE Select: NM_001277397 NM_001277397

CCDS: CCDS59425

Canonical transcript exons

ENST00000341750 — 3 exons

Exon	Start	End
ENSE00001711958	55769118	55769175
ENSE00002478059	55772602	55773420
ENSE00002534450	55771796	55772090

Expression profiles

Bgee: expression breadth broad, 32 present calls, max score 87.45.

Top tissues by expression

117 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	87.45	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.73	gold quality
right lobe of liver	UBERON:0001114	56.17	gold quality
granulocyte	CL:0000094	54.70	gold quality
liver	UBERON:0002107	49.80	gold quality
vermiform appendix	UBERON:0001154	44.21	gold quality
colonic epithelium	UBERON:0000397	42.32	gold quality
duodenum	UBERON:0002114	39.19	gold quality
bone marrow cell	CL:0002092	38.60	gold quality
leukocyte	CL:0000738	37.79	gold quality
monocyte	CL:0000576	37.49	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	34.93	gold quality
bone marrow	UBERON:0002371	34.22	gold quality
testis	UBERON:0000473	33.78	gold quality
lymph node	UBERON:0000029	33.69	gold quality
blood	UBERON:0000178	32.99	gold quality
left testis	UBERON:0004533	32.54	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
right testis	UBERON:0004534	31.77	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
islet of Langerhans	UBERON:0000006	30.68	gold quality
urinary bladder	UBERON:0001255	30.36	gold quality
pancreas	UBERON:0001264	29.90	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
gall bladder	UBERON:0002110	29.85	gold quality
small intestine	UBERON:0002108	29.84	silver quality
kidney	UBERON:0002113	29.52	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	413.02
E-MTAB-6142	no	31.74
E-ANND-3	no	1.30

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rfpl4	ENSMUSG00000035191

Paralogs (12): CD86 (ENSG00000114013), CD274 (ENSG00000120217), CD80 (ENSG00000121594), RFPL1 (ENSG00000128250), RFPL2 (ENSG00000128253), RFPL3 (ENSG00000128276), SPRYD4 (ENSG00000176422), RNF152 (ENSG00000176641), RNF135 (ENSG00000181481), PDCD1LG2 (ENSG00000197646), RFPL4A (ENSG00000223638), RFPL4B (ENSG00000251258)

Protein

Protein identifiers

Ret finger protein-like 4A-like protein 1 — F8VTS6 (reviewed: F8VTS6)

All UniProt accessions (1): F8VTS6

RefSeq proteins (1): NP_001264326* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR001870	B30.2/SPRY	Domain
IPR003877	SPRY_dom	Domain
IPR003879	Butyrophylin_SPRY	Domain
IPR006574	PRY	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR022723	RDM_domain_RFPL	Domain
IPR037960	SPRY/PRY_RFPL	Domain
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR050143	TRIM/RBCC	Family

Pfam: PF00622, PF11002, PF13765, PF15227

UniProt features (5 total): sequence conflict 2, chain 1, domain 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-F8VTS6-F1	91.16	0.77

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 7 (showing top): GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS, HE_LIM_SUN_FETAL_LUNG_C2_DC1_CELL, chr19q13

GO Biological Process (2): regulation of gene expression (GO:0010468), innate immune response (GO:0045087)

GO Molecular Function (4): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
gene expression	1
regulation of macromolecule biosynthetic process	1
immune response	1
defense response to symbiont	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
cation binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

158 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RFPL4AL1	RASD1	Q9Y272	186
RFPL4AL1	HOXB13	Q92826	167
RFPL4AL1	RASD2	Q96D21	159
RFPL4AL1	MOS	P00540	136
RFPL4AL1	H1-8	Q8IZA3	112
RFPL4AL1	OAS3	Q9Y6K5	74
RFPL4AL1	RPSA	P08865	72
RFPL4AL1	CXorf66	Q5JRM2	72
RFPL4AL1	SMKR1	H3BMG3	70
RFPL4AL1	PPP1R26	Q5T8A7	70
RFPL4AL1	MRPS2	Q9Y399	70
RFPL4AL1	NLRP4	Q96MN2	67
RFPL4AL1	PRAMEF12	O95522	53
RFPL4AL1	PRAMEF8	Q5VWM4	53
RFPL4AL1	PRAMEF7	Q5VXH5	53

IntAct

0 interactions, top by confidence:

BioGRID (8): RFPL4AL1 (Proximity Label-MS), RFPL4AL1 (Proximity Label-MS), RFPL4AL1 (Proximity Label-MS), RFPL4AL1 (Proximity Label-MS), RFPL4AL1 (Proximity Label-MS), RFPL4AL1 (Proximity Label-MS), RFPL4AL1 (Proximity Label-MS), RFPL4AL1 (Proximity Label-MS)

ESM2 similar proteins: A6NK02, A6NLU0, D4ABM4, F8VTS6, O00635, O19085, O77666, P14373, P15533, P62603, P86448, P86449, Q12899, Q2T9Z0, Q3UWZ0, Q495X7, Q58DK8, Q5BK82, Q5D7H7, Q5D7I6, Q5E9G4, Q5RBG2, Q5SZ99, Q5TM55, Q62158, Q62191, Q640S6, Q6AZZ1, Q6PGR9, Q7TPM3, Q7YR32, Q7YR33, Q7YR34, Q7YRV4, Q80X56, Q86WT6, Q8BVP1, Q8K243, Q8N7C3, Q8N9V2

Diamond homologs: A0A0E4BZH1, A0JN74, A4QPC6, A6NGJ6, A6NI03, A6NK02, A6NLU0, A7TZE6, A7TZF0, A7TZF3, A7XUX6, A7XUY5, A7XUZ6, A7XV04, A7XV07, A8MVZ5, B1H278, D4ABM4, F8S122, F8VTS6, O00478, O00481, O00635, O15553, O70355, O75677, O75678, O75679, P14373, P18892, P19474, P55803, P78410, Q02084, Q13410, Q1XHU0, Q27J48, Q2T9Z0, Q3UWZ0, Q495X7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RFPL4AL1	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

195 predictions. Top by Δscore:

Variant	Effect	Δscore
19:55771792:A:AG	acceptor_gain	1.0000
19:55771792:ACAG:A	acceptor_loss	1.0000
19:55771793:C:G	acceptor_gain	1.0000
19:55771793:CAGAC:C	acceptor_loss	1.0000
19:55771794:A:AG	acceptor_gain	1.0000
19:55771794:AGACA:A	acceptor_loss	1.0000
19:55771795:G:GA	acceptor_gain	1.0000
19:55771795:GA:G	acceptor_gain	1.0000
19:55771795:GAC:G	acceptor_gain	1.0000
19:55771795:GACA:G	acceptor_gain	1.0000
19:55771795:GACAT:G	acceptor_gain	1.0000
19:55772080:G:GT	donor_gain	1.0000
19:55772086:TCAAG:T	donor_loss	1.0000
19:55772087:CAAGG:C	donor_loss	1.0000
19:55772088:AAGG:A	donor_loss	1.0000
19:55772089:AGGT:A	donor_loss	1.0000
19:55772090:GGTAA:G	donor_loss	1.0000
19:55772091:G:GA	donor_loss	1.0000
19:55772091:G:GG	donor_gain	1.0000
19:55772092:T:A	donor_loss	1.0000
19:55772598:A:AG	acceptor_gain	1.0000
19:55772598:ACAGT:A	acceptor_gain	1.0000
19:55772599:C:G	acceptor_gain	1.0000
19:55772600:A:AG	acceptor_gain	1.0000
19:55772600:AGT:A	acceptor_gain	1.0000
19:55772600:AGTG:A	acceptor_gain	1.0000
19:55772601:G:GG	acceptor_gain	1.0000
19:55772601:GT:G	acceptor_gain	1.0000
19:55772601:GTG:G	acceptor_gain	1.0000
19:55772601:GTGG:G	acceptor_gain	1.0000

AlphaMissense

1907 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:55772715:T:C	F134L	0.987
19:55772717:C:A	F134L	0.987
19:55772717:C:G	F134L	0.987
19:55772871:T:C	F186L	0.981
19:55772873:C:A	F186L	0.981
19:55772873:C:G	F186L	0.981
19:55772084:T:C	F94L	0.979
19:55772086:T:A	F94L	0.979
19:55772086:T:G	F94L	0.979
19:55772772:T:A	W153R	0.979
19:55772772:T:C	W153R	0.979
19:55772774:G:C	W153C	0.976
19:55772774:G:T	W153C	0.976
19:55773000:T:C	F229L	0.976
19:55773002:T:A	F229L	0.976
19:55773002:T:G	F229L	0.976
19:55772802:T:A	W163R	0.975
19:55772802:T:C	W163R	0.975
19:55772819:C:G	C168W	0.969
19:55772872:T:C	F186S	0.966
19:55772818:G:A	C168Y	0.961
19:55772734:T:A	V140D	0.957
19:55772812:G:A	G166D	0.956
19:55772811:G:C	G166R	0.953
19:55772804:G:C	W163C	0.949
19:55772804:G:T	W163C	0.949
19:55773072:T:C	F253L	0.949
19:55773074:T:A	F253L	0.949
19:55773074:T:G	F253L	0.949
19:55772817:T:C	C168R	0.948

dbSNP variants (sampled 300 via entrez): RS1001568531 (19:55767281 T>C), RS1003141898 (19:55769401 A>C), RS1004909345 (19:55772674 G>A,T), RS1007697800 (19:55769317 C>G,T), RS1009410346 (19:55770559 A>G), RS1011458927 (19:55767806 G>A), RS1011824686 (19:55767436 G>A), RS1013591366 (19:55770252 A>G), RS1015934228 (19:55767967 G>A), RS1017582967 (19:55770611 G>A,T), RS1018031417 (19:55770353 A>G), RS1020048044 (19:55767843 T>C,G), RS1021718888 (19:55770259 C>A,T), RS1023476248 (19:55772939 G>A,T), RS1025895178 (19:55768709 T>C)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
2-methyl-4-isothiazolin-3-one	increases expression	1
sodium arsenite	increases expression	1
zinc chromate	increases abundance, increases expression	1
gallium arsenide	increases expression	1
chromium hexavalent ion	increases abundance, increases expression	1
abrine	increases expression	1
(+)-JQ1 compound	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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