ARL17B

Summary

ARL17B (ARF like GTPase 17B, HGNC:32387) is a protein-coding gene on chromosome 17q21.31, encoding Putative ADP-ribosylation factor-like protein 17B (I3L3L1). Putative small GTP-binding protein cycling between an inactive GDP-bound and an active GTP-bound form.

Predicted to enable GTP binding activity. Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to be located in Golgi apparatus. Predicted to be active in cytoplasm and plasma membrane.

Source: NCBI Gene 100506084 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 107 total — 1 pathogenic
• MANE Select transcript: NM_001039083

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32387
Approved symbol	ARL17B
Name	ARF like GTPase 17B
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000228696
Ensembl biotype	protein_coding
Entrez	100506084

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 7 protein_coding, 5 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000434041, ENST00000450673, ENST00000570618, ENST00000571246, ENST00000572991, ENST00000575698, ENST00000575960, ENST00000656849, ENST00000705717, ENST00000705718, ENST00000705759, ENST00000705760, ENST00000705761, ENST00000916324

RefSeq mRNA: 5 — MANE Select: NM_001039083 NM_001039083, NM_001103154, NM_001330240, NM_001352769, NM_001363805

CCDS: CCDS54137, CCDS58557

Canonical transcript exons

ENST00000450673 — 4 exons

Exon	Start	End
ENSE00000000323	46361676	46361766
ENSE00002352294	46358250	46358414
ENSE00002370389	46352820	46352930
ENSE00002640799	46334902	46339774

Expression profiles

Bgee: expression breadth ubiquitous, 189 present calls, max score 88.07.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	88.07	gold quality
calcaneal tendon	UBERON:0003701	85.92	gold quality
right uterine tube	UBERON:0001302	85.84	gold quality
monocyte	CL:0000576	85.69	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.68	gold quality
adrenal tissue	UBERON:0018303	85.68	gold quality
mononuclear cell	CL:0000842	85.36	gold quality
leukocyte	CL:0000738	84.74	gold quality
cortical plate	UBERON:0005343	83.54	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.40	gold quality
ventricular zone	UBERON:0003053	83.06	gold quality
cerebellar cortex	UBERON:0002129	82.79	gold quality
cerebellar hemisphere	UBERON:0002245	82.73	gold quality
right hemisphere of cerebellum	UBERON:0014890	82.60	gold quality
hindlimb stylopod muscle	UBERON:0004252	82.53	gold quality
lower esophagus mucosa	UBERON:0035834	82.37	gold quality
adenohypophysis	UBERON:0002196	82.25	gold quality
ganglionic eminence	UBERON:0004023	82.16	gold quality
gastrocnemius	UBERON:0001388	81.76	gold quality
right ovary	UBERON:0002118	81.74	gold quality
muscle of leg	UBERON:0001383	81.69	gold quality
left ovary	UBERON:0002119	81.50	gold quality
left lobe of thyroid gland	UBERON:0001120	81.47	gold quality
right lobe of thyroid gland	UBERON:0001119	81.23	gold quality
ectocervix	UBERON:0012249	80.99	gold quality
body of uterus	UBERON:0009853	80.78	gold quality
tibial artery	UBERON:0007610	80.66	gold quality
popliteal artery	UBERON:0002250	80.65	gold quality
lower esophagus	UBERON:0013473	80.54	gold quality
lower esophagus muscularis layer	UBERON:0035833	80.51	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting ARL17B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-12130	99.75	65.47	452
HSA-MIR-296-3P	99.21	66.56	474
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-4473	98.89	69.10	652
HSA-MIR-653-3P	98.31	67.71	1542
HSA-MIR-1295B-3P	96.68	66.11	276
HSA-MIR-6796-5P	95.37	66.08	1120

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	arf2a	ENSDARG00000014763
mus_musculus	Arf2	ENSMUSG00000062421
rattus_norvegicus	Arf1	ENSRNOG00000004807
drosophila_melanogaster	Arf1	FBGN0010348
caenorhabditis_elegans		WBGENE00000182

Paralogs (30): ARF5 (ENSG00000004059), SAR1A (ENSG00000079332), ARFRP1 (ENSG00000101246), TRIM23 (ENSG00000113595), ARL6 (ENSG00000113966), ARL1 (ENSG00000120805), ARL4A (ENSG00000122644), ARL8B (ENSG00000134108), ARF3 (ENSG00000134287), ARL3 (ENSG00000138175), ARL5C (ENSG00000141748), ARF1 (ENSG00000143761), ARL8A (ENSG00000143862), ARL11 (ENSG00000152213), SAR1B (ENSG00000152700), ARL5A (ENSG00000162980), ARF6 (ENSG00000165527), ARL5B (ENSG00000165997), ARF4 (ENSG00000168374), ARL13B (ENSG00000169379), ARL13A (ENSG00000174225), ARL10 (ENSG00000175414), ARL4D (ENSG00000175906), ARL14 (ENSG00000179674), ARL15 (ENSG00000185305), ARL17A (ENSG00000185829), ARL4C (ENSG00000188042), ARL9 (ENSG00000196503), ARL2 (ENSG00000213465), ARL16 (ENSG00000214087)

Protein

Protein identifiers

Putative ADP-ribosylation factor-like protein 17B — I3L3L1 (reviewed: I3L3L1)

All UniProt accessions (5): A0A994J5L7, A0A994J5X1, A8K0M5, Q8IVW1, I3L1A0

UniProt curated annotations — full annotation on UniProt →

Function. Putative small GTP-binding protein cycling between an inactive GDP-bound and an active GTP-bound form.

Similarity. Belongs to the small GTPase superfamily. Arf family.

RefSeq proteins (4): NP_001034172, NP_001096624, NP_001339698, NP_001350734 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006689	Small_GTPase_ARF/SAR	Family
IPR024156	Small_GTPase_ARF	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR031687	ARL17_C	Domain

Pfam: PF00025, PF15840

UniProt features (4 total): initiator methionine 1, chain 1, region of interest 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for I3L3L1 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 25 (showing top): GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, BASAKI_YBX1_TARGETS_DN, WALLACE_PROSTATE_CANCER_RACE_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOMF_GTPASE_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, LU_EZH2_TARGETS_UP, GOBP_INTRACELLULAR_TRANSPORT, CEBPZ_TARGET_GENES, PRKDC_TARGET_GENES, MIR6796_5P, MIR12130, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION, THAKAR_PBMC_INACTIVATED_INFLUENZA_AGE_21_30YO_RESPONDERS_28DY_DN

GO Biological Process (3): protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), intracellular protein transport (GO:0006886)

GO Molecular Function (4): GTPase activity (GO:0003924), GTP binding (GO:0005525), metal ion binding (GO:0046872), nucleotide binding (GO:0000166)

GO Cellular Component (3): Golgi apparatus (GO:0005794), cytoplasm (GO:0005737), plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
intracellular protein localization	2
establishment of protein localization	1
cellular process	1
protein transport	1
intracellular transport	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1791 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARL17B	KANSL1	Q7Z3B3	768
ARL17B	LRRC37A2	A6NM11	728
ARL17B	LRRC37A	A6NMS7	720
ARL17B	LRRC37A3	O60309	720
ARL17B	ARHGAP27	Q6ZUM4	534
ARL17B	PLEKHM1	Q9Y4G2	482
ARL17B	SPPL2C	Q8IUH8	480
ARL17B	ARL16	Q0P5N6	448
ARL17B	NXPE3	Q969Y0	447
ARL17B	R3HDM2	Q9Y2K5	417
ARL17B	SLC29A4	Q7RTT9	405
ARL17B	MAPT	P10636	392
ARL17B	RIPOR1	Q6ZS17	381
ARL17B	CRHR1	P34998	380
ARL17B	ARL9	Q6T311	380

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	75
Likely benign	19
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
57524	GRCh38/hg38 17q21.31(chr17:45575861-46274278)x1	Pathogenic

SpliceAI

2102 predictions. Top by Δscore:

Variant	Effect	Δscore
17:46302710:G:GG	donor_gain	1.0000
17:46305581:G:GG	donor_gain	1.0000
17:46306307:GTT:G	donor_gain	1.0000
17:46322394:G:GG	donor_gain	1.0000
17:46323024:AACT:A	donor_gain	1.0000
17:46323025:ACT:A	donor_gain	1.0000
17:46323026:CT:C	donor_gain	1.0000
17:46323028:G:GG	donor_gain	1.0000
17:46328508:GTC:G	donor_gain	1.0000
17:46328511:G:GG	donor_gain	1.0000
17:46328545:T:G	donor_gain	1.0000
17:46328545:T:TG	donor_gain	1.0000
17:46335542:CA:C	acceptor_loss	1.0000
17:46335544:GAT:G	acceptor_gain	1.0000
17:46335544:GATAT:G	acceptor_gain	1.0000
17:46335595:GT:G	donor_loss	1.0000
17:46335596:T:G	donor_loss	1.0000
17:46337424:TCTA:T	acceptor_loss	1.0000
17:46337425:CTAG:C	acceptor_loss	1.0000
17:46337426:TAGG:T	acceptor_loss	1.0000
17:46337427:A:AG	acceptor_gain	1.0000
17:46337427:AG:A	acceptor_gain	1.0000
17:46337427:AGGAT:A	acceptor_gain	1.0000
17:46337428:G:A	acceptor_gain	1.0000
17:46337428:G:GA	acceptor_gain	1.0000
17:46337428:GGA:G	acceptor_gain	1.0000
17:46337428:GGAT:G	acceptor_gain	1.0000
17:46337428:GGATG:G	acceptor_gain	1.0000
17:46337561:GACCC:G	donor_gain	1.0000
17:46352815:TTTAC:T	donor_loss	1.0000

AlphaMissense

1166 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000034851 (17:46351677 A>C), RS1000194431 (17:46279679 A>T), RS1000424148 (17:46286396 G>A,T), RS1000760940 (17:46289815 AT>A), RS1000796429 (17:46277033 G>A,T), RS1000840175 (17:46350394 G>C), RS1000862489 (17:46274378 T>C), RS1001148495 (17:46277848 T>C), RS1001206773 (17:46308964 A>G), RS1001252755 (17:46349161 C>G), RS1001390302 (17:46348658 C>T), RS1001506396 (17:46274178 G>A,C), RS1001638104 (17:46311013 T>G), RS1001693307 (17:46285322 C>T), RS1001769926 (17:46312443 G>A)

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

5 associations (top):

Study	Trait	p-value
GCST007592_2	Handedness (Left-handed vs. non-left-handed)	1.000000e-09
GCST007594_2	Handedness (Right-handed vs. non-right-handed)	2.000000e-08
GCST010135_31	Oily fish consumption	5.000000e-09
GCST010140_21	Pork consumption	5.000000e-09
GCST010703_91	Brain morphology (MOSTest)	2.000000e-65

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009902	handedness
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	2
bisphenol A	decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Leflunomide	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Silicon Dioxide	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Copper Sulfate	increases expression	1
Acrylamide	increases expression	1
S-Nitrosoglutathione	increases expression	1

Clinical trials (associated diseases)

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