TSGA10IP

Summary

TSGA10IP (testis specific 10 interacting protein, HGNC:26555) is a protein-coding gene on chromosome 11q13.1, encoding Testis-specific protein 10-interacting protein (Q3SY00).

Predicted to be involved in cilium organization. Predicted to be located in cytoskeleton. Predicted to be active in photoreceptor connecting cilium.

Source: NCBI Gene 254187 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 109 total
• MANE Select transcript: NM_152762

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26555
Approved symbol	TSGA10IP
Name	testis specific 10 interacting protein
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32880, FAM161C
Ensembl gene	ENSG00000175513
Ensembl biotype	protein_coding
Entrez	254187

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding

ENST00000528291, ENST00000531518, ENST00000532620, ENST00000534740, ENST00000608857

RefSeq mRNA: 6 — MANE Select: NM_152762 NM_001395491, NM_001395492, NM_001395493, NM_001395494, NM_001395495, NM_152762

CCDS: CCDS66138

Canonical transcript exons

ENST00000532620 — 8 exons

Exon	Start	End
ENSE00001190213	65953567	65953737
ENSE00001190216	65948001	65948148
ENSE00001190228	65946880	65947016
ENSE00002144525	65959190	65959314
ENSE00002274099	65958883	65958982
ENSE00003740938	65947110	65947828
ENSE00003978213	65959817	65959966
ENSE00003978214	65945480	65945822

Expression profiles

Bgee: expression breadth broad, 74 present calls, max score 82.43.

Top tissues by expression

200 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	82.43	silver quality
left testis	UBERON:0004533	75.74	gold quality
buccal mucosa cell	CL:0002336	74.22	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	74.19	gold quality
right testis	UBERON:0004534	73.54	gold quality
testis	UBERON:0000473	72.38	gold quality
tendon of biceps brachii	UBERON:0008188	69.01	gold quality
parotid gland	UBERON:0001831	66.09	gold quality
myocardium	UBERON:0002349	63.41	gold quality
secondary oocyte	CL:0000655	60.70	gold quality
nasal cavity epithelium	UBERON:0005384	60.00	gold quality
trabecular bone tissue	UBERON:0002483	58.56	gold quality
heart right ventricle	UBERON:0002080	58.50	gold quality
right lobe of thyroid gland	UBERON:0001119	58.15	gold quality
biceps brachii	UBERON:0001507	58.15	gold quality
medial globus pallidus	UBERON:0002477	57.62	gold quality
thyroid gland	UBERON:0002046	57.36	gold quality
left lobe of thyroid gland	UBERON:0001120	57.33	gold quality
right hemisphere of cerebellum	UBERON:0014890	56.71	gold quality
cerebellar cortex	UBERON:0002129	56.44	gold quality
cerebellar hemisphere	UBERON:0002245	56.37	gold quality
granulocyte	CL:0000094	56.19	gold quality
cerebellum	UBERON:0002037	55.97	gold quality
monocyte	CL:0000576	55.85	gold quality
leukocyte	CL:0000738	55.79	gold quality
parietal pleura	UBERON:0002400	55.62	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	55.25	gold quality
visceral pleura	UBERON:0002401	55.23	gold quality
globus pallidus	UBERON:0001875	54.97	gold quality
vastus lateralis	UBERON:0001379	54.70	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.96

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tsga10ip	ENSMUSG00000039330
rattus_norvegicus	Tsga10ip	ENSRNOG00000027564
caenorhabditis_elegans		WBGENE00012626

Paralogs (2): FAM161B (ENSG00000156050), FAM161A (ENSG00000170264)

Protein

Protein identifiers

Testis-specific protein 10-interacting protein — Q3SY00 (reviewed: Q3SY00)

Alternative names: Tsga10-interacting protein

All UniProt accessions (3): Q3SY00, A0A087WZG0, A0A087X0H3

UniProt curated annotations — full annotation on UniProt →

Isoforms (2)

UniProt ID	Names	Canonical?
Q3SY00-1	1	yes
Q3SY00-2	2

RefSeq proteins (6): NP_001382420, NP_001382421, NP_001382422, NP_001382423, NP_001382424, NP_689975* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR051655	FAM161	Family

UniProt features (19 total): region of interest 5, sequence variant 5, compositionally biased region 4, splice variant 2, chain 1, sequence conflict 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3SY00-F1	58.35	0.19

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 19 (showing top): chr11q13, GOBP_CILIUM_ORGANIZATION, GOCC_NEURON_PROJECTION, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_CILIARY_TRANSITION_ZONE, GOCC_PHOTORECEPTOR_CONNECTING_CILIUM, GOCC_CILIUM, GOCC_NON_MOTILE_CILIUM, GOCC_9PLUS0_NON_MOTILE_CILIUM, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GOCC_PHOTORECEPTOR_CELL_CILIUM, GSE22601_DOUBLE_POSITIVE_VS_CD4_SINGLE_POSITIVE_THYMOCYTE_UP, GSE16385_IL4_VS_ROSIGLITAZONE_STIM_MACROPHAGE_DN, GSE25088_CTRL_VS_IL4_AND_ROSIGLITAZONE_STIM_STAT6_KO_MACROPHAGE_DN, GTTRYCATRR_UNKNOWN

GO Biological Process (1): cilium organization (GO:0044782)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): cytoskeleton (GO:0005856), photoreceptor connecting cilium (GO:0032391)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
organelle organization	1
plasma membrane bounded cell projection organization	1
binding	1
intracellular membraneless organelle	1
ciliary transition zone	1
photoreceptor cell cilium	1

Protein interactions and networks

STRING

424 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TSGA10IP	OR5M9	Q8NGP3	612
TSGA10IP	OR10AG1	Q8NH19	601
TSGA10IP	PIGZ	Q86VD9	564
TSGA10IP	ABCC12	Q96J65	522
TSGA10IP	ENTHD1	Q8IYW4	473
TSGA10IP	ZNF438	Q7Z4V0	419
TSGA10IP	TSKS	Q9UJT2	400
TSGA10IP	H0YL38	H0YL38	392
TSGA10IP	NPAP1	Q9NZP6	387
TSGA10IP	ZNF280D	Q6N043	379
TSGA10IP	AMER3	Q8N944	375
TSGA10IP	CCDC69	A6NI79	370
TSGA10IP	SPAG5	Q96R06	363
TSGA10IP	TSPAN11	A1L157	350
TSGA10IP	SLX4	Q8IY92	347

IntAct

358 interactions, top by confidence:

A	B	Type	Score
CEP70	TSGA10IP	psi-mi:“MI:0915”(physical association)	0.780
TSGA10IP	CEP70	psi-mi:“MI:0915”(physical association)	0.780
MTUS2	TSGA10IP	psi-mi:“MI:0915”(physical association)	0.670
TSGA10IP	MTUS2	psi-mi:“MI:0915”(physical association)	0.670
TRIM27	TSGA10IP	psi-mi:“MI:0915”(physical association)	0.560
CCDC57	TSGA10IP	psi-mi:“MI:0915”(physical association)	0.560
TSGA10IP	KRT40	psi-mi:“MI:0915”(physical association)	0.560
TSGA10IP	CCDC57	psi-mi:“MI:0915”(physical association)	0.560
TSGA10IP	AMOTL2	psi-mi:“MI:0915”(physical association)	0.560
NAB2	TSGA10IP	psi-mi:“MI:0915”(physical association)	0.560
CALCOCO2	TSGA10IP	psi-mi:“MI:0915”(physical association)	0.560
TSGA10IP	CCDC120	psi-mi:“MI:0915”(physical association)	0.560
TSGA10IP	CARD9	psi-mi:“MI:0915”(physical association)	0.560
TSGA10IP	GRIPAP1	psi-mi:“MI:0915”(physical association)	0.560
TRAF2	TSGA10IP	psi-mi:“MI:0915”(physical association)	0.560
TSGA10IP	CAVIN1	psi-mi:“MI:0915”(physical association)	0.560
TSGA10IP	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
TSGA10IP	ROPN1	psi-mi:“MI:0915”(physical association)	0.560
TSGA10IP	CFL1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (158): TSGA10IP (Two-hybrid), TSGA10IP (Two-hybrid), TSGA10IP (Two-hybrid), TSGA10IP (Two-hybrid), CCDC57 (Two-hybrid), BRCA1 (Two-hybrid), NAA16 (Affinity Capture-MS), CUL2 (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), YBEY (Affinity Capture-MS), DCAF5 (Affinity Capture-MS), NAA10 (Affinity Capture-MS), NAA50 (Affinity Capture-MS), HYPK (Affinity Capture-MS), CST4 (Affinity Capture-MS)

ESM2 similar proteins: A0A096LP49, A0A8V8TNH8, A0A8V8TPE2, A2VE02, A5D7I0, A6NDY2, A6NGG8, A6NIJ5, A6NNJ1, A8MXJ8, A8MYA2, B1ASB6, B2RW88, D6RGX4, O60269, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV75, P0DV76, Q2KIS6, Q2NL68, Q3SY00, Q4R736, Q4V8B5, Q5RCQ2, Q5SZB4, Q5VZ46, Q5XIK6, Q658T7, Q66JV7, Q6NS69, Q6PAC4, Q6ZMY3, Q76N32, Q7TSA6, Q7Z591, Q80VW7, Q80X53

Diamond homologs: A5D7I0, Q3B820, Q3SY00, Q66MI6, Q8CB59

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	101
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1330 predictions. Top by Δscore:

Variant	Effect	Δscore
11:65947015:GA:G	donor_gain	1.0000
11:65947017:G:GG	donor_gain	1.0000
11:65953734:TGAGG:T	donor_loss	1.0000
11:65953735:GAGGT:G	donor_loss	1.0000
11:65953737:GGT:G	donor_loss	1.0000
11:65953738:GTAG:G	donor_loss	1.0000
11:65953739:T:G	donor_loss	1.0000
11:65947012:GAAGA:G	donor_gain	0.9900
11:65947108:A:AG	acceptor_gain	0.9900
11:65947109:G:GG	acceptor_gain	0.9900
11:65948138:G:GT	donor_gain	0.9900
11:65948148:GGTAA:G	donor_loss	0.9900
11:65948149:G:GC	donor_loss	0.9900
11:65948150:T:A	donor_loss	0.9900
11:65953560:A:AG	acceptor_gain	0.9900
11:65953561:C:G	acceptor_gain	0.9900
11:65953564:A:AG	acceptor_gain	0.9900
11:65953564:AAG:A	acceptor_gain	0.9900
11:65953565:A:G	acceptor_gain	0.9900
11:65953566:G:A	acceptor_gain	0.9900
11:65953566:GG:G	acceptor_loss	0.9900
11:65953566:GGA:G	acceptor_gain	0.9900
11:65958881:A:AG	acceptor_gain	0.9900
11:65958882:G:GG	acceptor_gain	0.9900
11:65958974:GC:G	donor_gain	0.9900
11:65958978:TGCAG:T	donor_loss	0.9900
11:65958979:GCAGG:G	donor_loss	0.9900
11:65958980:CAGGT:C	donor_loss	0.9900
11:65958981:AGGT:A	donor_loss	0.9900
11:65958982:GG:G	donor_loss	0.9900

AlphaMissense

3578 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:65959220:T:C	F485L	0.986
11:65959222:C:A	F485L	0.986
11:65959222:C:G	F485L	0.986
11:65958966:T:C	F469S	0.985
11:65958965:T:C	F469L	0.984
11:65958967:C:A	F469L	0.984
11:65958967:C:G	F469L	0.984
11:65959221:T:C	F485S	0.983
11:65947147:T:C	F108L	0.982
11:65947149:C:A	F108L	0.982
11:65947149:C:G	F108L	0.982
11:65958966:T:G	F469C	0.981
11:65947141:T:C	F106L	0.978
11:65947143:C:A	F106L	0.978
11:65947143:C:G	F106L	0.978
11:65947155:G:C	W110C	0.978
11:65947155:G:T	W110C	0.978
11:65948131:A:C	K378N	0.977
11:65948131:A:T	K378N	0.977
11:65947153:T:A	W110R	0.973
11:65947153:T:C	W110R	0.973
11:65947161:G:C	W112C	0.972
11:65947161:G:T	W112C	0.972
11:65958974:G:C	A472P	0.971
11:65958912:A:C	Y451S	0.970
11:65947159:T:A	W112R	0.969
11:65947159:T:C	W112R	0.969
11:65958911:T:C	Y451H	0.969
11:65958924:T:C	L455P	0.968
11:65958933:T:C	I458T	0.967

dbSNP variants (sampled 300 via entrez): RS1000018081 (11:65944490 T>C), RS1000094545 (11:65953449 G>C,T), RS1000240798 (11:65957007 G>A), RS1000488526 (11:65955536 C>T), RS1000495894 (11:65944187 G>A), RS1000629565 (11:65949947 G>C), RS1000700395 (11:65954620 C>A,T), RS1000733982 (11:65955838 G>T), RS1001074289 (11:65945986 T>C), RS1001195272 (11:65944873 G>A), RS1001554123 (11:65956436 C>T), RS1001589559 (11:65950855 C>A,T), RS1001657459 (11:65950313 A>G), RS1001669351 (11:65944547 C>A,T), RS1001702928 (11:65957745 C>G,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

7 associations (top):

Study	Trait	p-value
GCST002481_8	Acne (severe)	3.000000e-11
GCST003123_24	Severe influenza A (H1N1) infection	3.000000e-17
GCST007294_7	Body fat distribution (trunk fat ratio)	8.000000e-12
GCST007294_75	Body fat distribution (trunk fat ratio)	1.000000e-07
GCST007295_158	Body fat distribution (leg fat ratio)	8.000000e-06
GCST007295_48	Body fat distribution (leg fat ratio)	3.000000e-09
GCST008972_130	Urate levels	2.000000e-271

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:1001488	influenza A (H1N1)
EFO:0004341	body fat distribution
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
tetrabromobisphenol A	decreases expression	1
Temozolomide	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Triclosan	decreases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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