ASB17

Summary

ASB17 (ankyrin repeat and SOCS box containing 17, HGNC:19769) is a protein-coding gene on chromosome 1p31.1, encoding Ankyrin repeat and SOCS box protein 17 (Q8WXJ9). May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Predicted to be involved in intracellular signal transduction and protein ubiquitination. Predicted to be located in cytosol.

Source: NCBI Gene 127247 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital heart defects, multiple types (Limited, GenCC)
• GWAS associations: 7
• Clinical variants (ClinVar): 35 total
• MANE Select transcript: NM_080868

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19769
Approved symbol	ASB17
Name	ankyrin repeat and SOCS box containing 17
Location	1p31.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000154007
Ensembl biotype	protein_coding
OMIM	619936
Entrez	127247

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000284142

RefSeq mRNA: 1 — MANE Select: NM_080868 NM_080868

CCDS: CCDS671

Canonical transcript exons

ENST00000284142 — 3 exons

Exon	Start	End
ENSE00001013510	75922080	75922359
ENSE00001067049	75931891	75932404
ENSE00001453696	75918873	75919158

Expression profiles

Bgee: expression breadth broad, 24 present calls, max score 97.78.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0310 / max 27.8095, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12878	0.0310	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	97.78	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.86	gold quality
adult organism	UBERON:0007023	91.82	gold quality
left testis	UBERON:0004533	90.41	gold quality
right testis	UBERON:0004534	90.01	gold quality
testis	UBERON:0000473	88.14	gold quality
tibialis anterior	UBERON:0001385	67.83	silver quality
deltoid	UBERON:0001476	56.38	gold quality
ileal mucosa	UBERON:0000331	55.64	silver quality
pancreatic ductal cell	CL:0002079	54.76	silver quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
epithelial cell of pancreas	CL:0000083	54.01	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
myocardium	UBERON:0002349	50.25	gold quality
quadriceps femoris	UBERON:0001377	47.51	gold quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
vastus lateralis	UBERON:0001379	45.40	gold quality
cauda epididymis	UBERON:0004360	44.24	gold quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
skeletal muscle tissue	UBERON:0001134	42.19	gold quality
muscle tissue	UBERON:0002385	42.09	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
cartilage tissue	UBERON:0002418	40.77	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.47

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• expressed exclusively in testis (PMID:15204681)
• ASB17 Facilitates the Burst of LPS-Induced Inflammation Through Maintaining TRAF6 Stability. (PMID:35174103)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Asb17	ENSMUSG00000038997
rattus_norvegicus	Asb17	ENSRNOG00000048832
drosophila_melanogaster	stops	FBGN0086704

Protein

Protein identifiers

Ankyrin repeat and SOCS box protein 17 — Q8WXJ9 (reviewed: Q8WXJ9)

All UniProt accessions (1): Q8WXJ9

UniProt curated annotations — full annotation on UniProt →

Function. May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Tissue specificity. Specifically expressed in testis. Not detected in other tissues tested.

Domain organisation. The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ankyrin SOCS box (ASB) family.

RefSeq proteins (1): NP_543144* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001496	SOCS_box	Domain
IPR036036	SOCS_box-like_dom_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR039147	ASB17	Family

Pfam: PF07525

UniProt features (5 total): sequence variant 2, chain 1, repeat 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WXJ9-F1	86.18	0.64

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-8951664	Neddylation
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 37 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, YGACNNYACAR_UNKNOWN, WEBER_METHYLATED_LCP_IN_FIBROBLAST_DN, TGACATY_UNKNOWN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, ATF3_Q6, GOCC_CELL_CELL_JUNCTION, GOCC_ANCHORING_JUNCTION, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_WITH_LMP1_UP, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, REACTOME_NEDDYLATION, GSE13485_CTRL_VS_DAY1_YF17D_VACCINE_PBMC_DN

GO Biological Process (5): protein polyubiquitination (GO:0000209), intracellular signal transduction (GO:0035556), cell-cell junction disassembly (GO:0150147), spermatid cytoplasm removal during spermiation of flagellated sperm (GO:0160087), protein ubiquitination (GO:0016567)

GO Molecular Function (0):

GO Cellular Component (2): cytosol (GO:0005829), apical ectoplasmic specialization (GO:0061831)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Post-translational protein modification	1
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Metabolism of proteins	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein ubiquitination	1
intracellular anatomical structure	1
signal transduction	1
cell-cell junction organization	1
cell junction disassembly	1
developmental process involved in reproduction	1
spermatogenesis	1
protein modification by small protein conjugation	1
cytoplasm	1
cellular anatomical structure	1
cell-cell junction	1

Protein interactions and networks

STRING

370 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASB17	ASB2	Q96Q27	864
ASB17	TGM6	O95932	771
ASB17	ADAM8	P78325	724
ASB17	OR5M11	Q96RB7	606
ASB17	CCDC190	Q86UF4	597
ASB17	ASB11	Q8WXH4	568
ASB17	OR5AR1	Q8NGP9	538
ASB17	TAS2R1	Q9NYW7	530
ASB17	SRFBP1	Q8NEF9	508
ASB17	CCDC126	Q96EE4	507
ASB17	CLEC12B	Q2HXU8	506
ASB17	OR5M10	Q6IEU7	501
ASB17	ASB18	Q6ZVZ8	497
ASB17	ASB1	Q9Y576	492
ASB17	OR2I1	Q8NGU4	482

IntAct

2 interactions, top by confidence:

A	B	Type	Score
ASB17	HSP90AB1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (26): ASB17 (PCA), ASB17 (Negative Genetic), BIK (Affinity Capture-Western), ASB17 (Affinity Capture-Western), TRAF6 (Affinity Capture-Western), ASB17 (Affinity Capture-Western), ASB17 (Affinity Capture-Luminescence), HSPB1 (Affinity Capture-MS), TCEB2 (Affinity Capture-MS), RCN2 (Affinity Capture-MS), TUFM (Affinity Capture-MS), ATP2A2 (Affinity Capture-MS), SSR4 (Affinity Capture-MS), ARF4 (Affinity Capture-MS), VAPA (Affinity Capture-MS)

ESM2 similar proteins: A0A2B4RNI3, A0A3M6TIF0, A0A8B8EY61, A0A913XCT1, A8DYP7, G5EBL2, G5ED39, O14061, O17657, O36386, P0DXM7, P0DXM8, P17595, P24447, P30024, P32742, P52344, P52448, P52527, P89680, P89884, P90245, Q01013, Q01015, Q05930, Q09346, Q10122, Q10128, Q13535, Q18008, Q18262, Q18LC9, Q18LD0, Q20849, Q23652, Q32KY8, Q66640, Q69555, Q6UDH7, Q7KLI1

Diamond homologs: Q32KY8, Q8HYV8, Q8VHP9, Q8WXJ9, Q95LR4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	34
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

434 predictions. Top by Δscore:

Variant	Effect	Δscore
1:75931892:T:TA	donor_gain	0.9600
1:75928857:CAA:C	acceptor_gain	0.9500
1:75919159:C:CC	acceptor_gain	0.9300
1:75919157:GTCT:G	acceptor_gain	0.9100
1:75932337:A:AC	donor_gain	0.9000
1:75932338:C:CC	donor_gain	0.9000
1:75919155:GTGTC:G	acceptor_gain	0.8900
1:75919156:TGTCT:T	acceptor_gain	0.8900
1:75922360:C:CC	acceptor_gain	0.8800
1:75931885:TATTA:T	donor_loss	0.8700
1:75931886:ATTAC:A	donor_loss	0.8700
1:75931887:TTA:T	donor_loss	0.8700
1:75931888:TACCT:T	donor_loss	0.8700
1:75931889:AC:A	donor_loss	0.8700
1:75931890:CCTCC:C	donor_loss	0.8700
1:75932044:A:AC	donor_gain	0.8600
1:75932045:C:CC	donor_gain	0.8600
1:75931891:C:G	donor_loss	0.8500
1:75919158:TCT:T	acceptor_gain	0.7900
1:75928858:A:T	acceptor_gain	0.7900
1:75919155:GTGT:G	acceptor_gain	0.7600
1:75919157:GTCTG:G	acceptor_loss	0.7600
1:75919158:TC:T	acceptor_loss	0.7600
1:75919159:C:G	acceptor_loss	0.7600
1:75919160:T:A	acceptor_loss	0.7600
1:75919170:C:CT	acceptor_loss	0.7500
1:75919171:A:T	acceptor_loss	0.7500
1:75919161:G:C	acceptor_loss	0.7400
1:75931889:ACCT:A	donor_gain	0.7300
1:75931890:CCTC:C	donor_gain	0.7300

AlphaMissense

1918 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:75919045:C:A	R265S	0.997
1:75919045:C:G	R265S	0.997
1:75922297:G:T	A155D	0.997
1:75919046:C:A	R265M	0.995
1:75919037:A:G	L268P	0.994
1:75919046:C:G	R265T	0.994
1:75922252:C:A	G170V	0.994
1:75922353:G:C	F136L	0.994
1:75922353:G:T	F136L	0.994
1:75922355:A:G	F136L	0.994
1:75931948:A:G	L115P	0.994
1:75931986:A:C	F102L	0.994
1:75931986:A:T	F102L	0.994
1:75931988:A:G	F102L	0.994
1:75922121:A:G	C214R	0.993
1:75931994:A:G	W100R	0.993
1:75931994:A:T	W100R	0.993
1:75918968:A:G	L291P	0.992
1:75922252:C:T	G170E	0.992
1:75922312:G:C	P150R	0.992
1:75922312:G:T	P150H	0.992
1:75931895:A:G	W133R	0.992
1:75931895:A:T	W133R	0.992
1:75922261:A:G	L167P	0.991
1:75931980:T:A	R104S	0.991
1:75931980:T:G	R104S	0.991
1:75932015:A:G	C93R	0.991
1:75919119:A:G	W241R	0.990
1:75919119:A:T	W241R	0.990
1:75931951:A:G	L114P	0.990

dbSNP variants (sampled 300 via entrez): RS1000179627 (1:75933301 C>G,T), RS1000198562 (1:75924100 A>G), RS1000432580 (1:75931615 CTTTG>C), RS1000675943 (1:75923735 G>A), RS1001214180 (1:75923489 G>A), RS1001223280 (1:75934171 T>A), RS1002455058 (1:75928970 G>C,T), RS1002488932 (1:75928986 G>A), RS1002594966 (1:75918922 T>C), RS1002710018 (1:75921021 G>A,C,T), RS1002796022 (1:75925569 A>T), RS1002842999 (1:75926916 G>A), RS1002847831 (1:75932994 C>T), RS1003154594 (1:75925917 G>A), RS1003192512 (1:75927216 A>G)

Disease associations

OMIM: gene MIM:619936 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital heart defects, multiple types	Limited	Autosomal dominant

Mondo (1): congenital heart defects, multiple types (MONDO:0000119)

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST003025_6	Attention function in attention deficit hyperactive disorder	9.000000e-07
GCST003518_98	Daytime sleep phenotypes	3.000000e-06
GCST006249_16	Serum metabolite levels	1.000000e-24
GCST006249_6	Serum metabolite levels	6.000000e-30
GCST006249_72	Serum metabolite levels	1.000000e-18
GCST006249_82	Serum metabolite levels	4.000000e-15
GCST009391_827	Metabolite levels	3.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007636	attention function measurement
EFO:0007828	daytime rest measurement
EFO:0006523	symmetrical dimethylarginine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Aflatoxin B1	increases methylation	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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