TTC33

Summary

TTC33 (tetratricopeptide repeat domain 33, HGNC:29959) is a protein-coding gene on chromosome 5p13.1, encoding Tetratricopeptide repeat protein 33 (Q6PID6).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 11 total
• MANE Select transcript: NM_012382

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29959
Approved symbol	TTC33
Name	tetratricopeptide repeat domain 33
Location	5p13.1
Locus type	gene with protein product
Status	Approved
Aliases	OSRF
Ensembl gene	ENSG00000113638
Ensembl biotype	protein_coding
Entrez	23548

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000337702, ENST00000503936, ENST00000504251, ENST00000511730, ENST00000636106, ENST00000636863, ENST00000637375, ENST00000877600, ENST00000937637, ENST00000937638

RefSeq mRNA: 1 — MANE Select: NM_012382 NM_012382

CCDS: CCDS3931

Canonical transcript exons

ENST00000337702 — 5 exons

Exon	Start	End
ENSE00001354839	40711576	40716498
ENSE00001354853	40755824	40755961
ENSE00003565519	40730262	40730343
ENSE00003619458	40746798	40747019
ENSE00003660310	40728345	40728476

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 92.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.8225 / max 229.6578, expressed in 1658 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61446	7.8225	1658

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	92.00	gold quality
colonic epithelium	UBERON:0000397	91.30	gold quality
cortical plate	UBERON:0005343	90.23	gold quality
biceps brachii	UBERON:0001507	87.37	gold quality
muscle of leg	UBERON:0001383	86.93	gold quality
ventricular zone	UBERON:0003053	86.81	gold quality
gastrocnemius	UBERON:0001388	86.61	gold quality
muscle organ	UBERON:0001630	86.01	gold quality
islet of Langerhans	UBERON:0000006	85.86	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.81	gold quality
ganglionic eminence	UBERON:0004023	85.71	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.42	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.00	gold quality
adrenal tissue	UBERON:0018303	84.96	gold quality
prefrontal cortex	UBERON:0000451	84.35	gold quality
skeletal muscle tissue	UBERON:0001134	83.98	gold quality
monocyte	CL:0000576	83.78	gold quality
stromal cell of endometrium	CL:0002255	83.70	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	83.41	gold quality
vastus lateralis	UBERON:0001379	83.30	gold quality
mononuclear cell	CL:0000842	83.20	gold quality
leukocyte	CL:0000738	82.86	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	82.70	gold quality
quadriceps femoris	UBERON:0001377	82.66	gold quality
cerebellar cortex	UBERON:0002129	82.60	gold quality
muscle tissue	UBERON:0002385	82.56	gold quality
cerebellar hemisphere	UBERON:0002245	82.48	gold quality
pigmented layer of retina	UBERON:0001782	82.28	gold quality
popliteal artery	UBERON:0002250	81.85	gold quality
tibial artery	UBERON:0007610	81.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.41

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

178 targeting TTC33, 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-3613-3P	100.00	76.36	7965
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4282	99.99	75.36	6408

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ttc33	ENSDARG00000035406
mus_musculus	Ttc33	ENSMUSG00000022151
rattus_norvegicus	Ttc33	ENSRNOG00000013217

Protein

Protein identifiers

Tetratricopeptide repeat protein 33 — Q6PID6 (reviewed: Q6PID6)

Alternative names: Osmosis-responsive factor

All UniProt accessions (4): A0A1B0GU95, A0A1B0GUJ4, A0A1B0GV67, Q6PID6

RefSeq proteins (1): NP_036514* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR052658	TPR-containing	Family

UniProt features (8 total): repeat 3, modified residue 2, chain 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PID6-F1	80.26	0.50

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 (2): 197, 251

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 145 (showing top): STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, DANG_BOUND_BY_MYC, ZHENG_FOXP3_TARGETS_IN_THYMUS_UP, BENPORATH_MYC_MAX_TARGETS, STEIN_ESRRA_TARGETS_RESPONSIVE_TO_ESTROGEN_UP, FOXO3_01, GABRIELY_MIR21_TARGETS, BMI1_DN_MEL18_DN.V1_DN, BMI1_DN.V1_DN, TBK1.DF_UP, SHEN_SMARCA2_TARGETS_UP, E2F5_TARGET_GENES, HES4_TARGET_GENES, KAT2A_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

1592 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TTC33	PSME3IP1	Q9GZU8	565
TTC33	METTL21A	Q8WXB1	480
TTC33	CARD6	Q9BX69	450
TTC33	MRPL42	Q9Y6G3	446
TTC33	ZBED8	Q8IZ13	434
TTC33	RALGPS2	Q86X27	416
TTC33	PMS1	P54277	412
TTC33	PRKAA1	Q13131	411
TTC33	FASTKD2	Q9NYY8	408
TTC33	RPL37	P02403	404
TTC33	CCNYL1	Q8N7R7	403
TTC33	AIRIM	Q9NX04	400
TTC33	TTC34	A8MYJ7	379
TTC33	ZNF600	Q6ZNG1	378
TTC33	CEMIP2	Q9UHN6	368

IntAct

89 interactions, top by confidence:

A	B	Type	Score
TCL1A	TTC33	psi-mi:“MI:0915”(physical association)	0.780
TTC33	TCL1A	psi-mi:“MI:0915”(physical association)	0.780
CCDC97	SF3B1	psi-mi:“MI:0914”(association)	0.730
PHF5A	SF3B1	psi-mi:“MI:0914”(association)	0.730
SNRPD2	GEMIN2	psi-mi:“MI:0914”(association)	0.710
SF3B1	SAP18	psi-mi:“MI:0914”(association)	0.640
SNRPA1	U2SURP	psi-mi:“MI:0914”(association)	0.640
SF3B4	SF3B1	psi-mi:“MI:0914”(association)	0.610
PPP2R2D	ENSA	psi-mi:“MI:0914”(association)	0.570
PPP2R2D	ENSA	psi-mi:“MI:2364”(proximity)	0.570
TXLNA	TTC33	psi-mi:“MI:0915”(physical association)	0.560
PSMB1	TTC33	psi-mi:“MI:0915”(physical association)	0.560
TTC33	MITD1	psi-mi:“MI:0915”(physical association)	0.560
TTC33	APOE	psi-mi:“MI:0915”(physical association)	0.560
TTC33	ELAVL4	psi-mi:“MI:0915”(physical association)	0.560
DNALI1	TTC33	psi-mi:“MI:0915”(physical association)	0.560
KLF11	TTC33	psi-mi:“MI:0915”(physical association)	0.560
TTC33	NUP58	psi-mi:“MI:0915”(physical association)	0.560
DNAJB6	TTC33	psi-mi:“MI:0915”(physical association)	0.560
TTC33	NDRG1	psi-mi:“MI:0915”(physical association)	0.560
TTC33	COL26A1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (72): TTC33 (Two-hybrid), TTC33 (Affinity Capture-MS), TTC33 (Affinity Capture-MS), TTC33 (Affinity Capture-MS), TTC33 (Affinity Capture-MS), TTC33 (Affinity Capture-MS), TTC33 (Affinity Capture-MS), TTC33 (Affinity Capture-MS), TTC33 (Affinity Capture-MS), TTC33 (Affinity Capture-MS), TTC33 (Affinity Capture-MS), TTC33 (Affinity Capture-MS), TTC33 (Affinity Capture-MS), TTC33 (Affinity Capture-MS), TTC33 (Affinity Capture-MS)

ESM2 similar proteins: A0A1S4D1D3, A0A1W2PR95, A1D9I5, A5D796, A7SD85, B0W6N3, D2K8N5, E1C760, E7EXT2, F7AEX0, O08836, O57476, P51951, P54729, P78318, P92948, Q0CU99, Q16543, Q16891, Q173M7, Q1DM35, Q2PIU8, Q2QY04, Q3ZC62, Q4V8E4, Q4W9M7, Q5AXH3, Q5EAC6, Q5M990, Q5PQS7, Q61081, Q61249, Q63692, Q6PID6, Q7SYB2, Q8C6E0, Q8CAQ8, Q8LDQ4, Q8R3N6, Q93VM9

Diamond homologs: A0A3L6DPG1, A4K2V0, D7REX8, F4KCL7, F8RP11, O13797, O14217, O16259, O35814, O43765, O54981, O70593, O94826, P0CT30, P15705, P23231, P25407, P31948, P50503, P53041, P53042, Q0JL44, Q12118, Q15785, Q2KIK0, Q2U919, Q32LM2, Q388N2, Q3KRD5, Q3ZBZ8, Q43468, Q496Y0, Q4R8N7, Q4WTC0, Q54DA8, Q54IP0, Q54VG4, Q5EBF2, Q5R8D8, Q5U2X2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 67 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
mRNA Splicing - Minor Pathway	10	42.2×	9e-13
mRNA Splicing	18	37.3×	2e-22
CHD1 and CHD2 subfamily	18	36.9×	2e-22
mRNA Polyadenylation	20	33.1×	8e-24
Processing of Capped Intron-Containing Pre-mRNA	19	29.4×	7e-22
mRNA Splicing - Major Pathway	23	23.7×	4e-24
SARS-CoV-2 modulates host translation machinery	5	21.1×	1e-04
snRNP Assembly	5	19.9×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
U2-type prespliceosome assembly	16	158.5×	1e-30
RNA splicing, via transesterification reactions	6	59.4×	5e-08
spliceosomal complex assembly	5	47.8×	4e-06
mRNA splicing, via spliceosome	21	30.5×	8e-24
RNA splicing	15	21.0×	4e-14
mRNA processing	11	13.8×	4e-08
mitotic cell cycle	5	10.6×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	11
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1334 predictions. Top by Δscore:

Variant	Effect	Δscore
5:40681858:GTG:G	donor_gain	1.0000
5:40681861:G:GG	donor_gain	1.0000
5:40716496:TGCC:T	acceptor_loss	1.0000
5:40716499:C:CC	acceptor_gain	1.0000
5:40728338:T:TA	donor_gain	1.0000
5:40728378:T:TA	donor_gain	1.0000
5:40728398:C:CA	donor_gain	1.0000
5:40746794:ATAC:A	donor_loss	1.0000
5:40746795:TA:T	donor_loss	1.0000
5:40746796:A:AC	donor_gain	1.0000
5:40746796:AC:A	donor_gain	1.0000
5:40746796:ACC:A	donor_loss	1.0000
5:40746797:C:CT	donor_gain	1.0000
5:40746797:CC:C	donor_gain	1.0000
5:40746797:CCT:C	donor_gain	1.0000
5:40746797:CCTT:C	donor_gain	1.0000
5:40746797:CCTTT:C	donor_gain	1.0000
5:40747015:CCATT:C	acceptor_gain	1.0000
5:40747016:CATT:C	acceptor_gain	1.0000
5:40747016:CATTC:C	acceptor_gain	1.0000
5:40747017:ATT:A	acceptor_gain	1.0000
5:40747017:ATTCT:A	acceptor_loss	1.0000
5:40747018:TT:T	acceptor_gain	1.0000
5:40747019:TCTGG:T	acceptor_loss	1.0000
5:40747020:C:CA	acceptor_loss	1.0000
5:40747020:C:CC	acceptor_gain	1.0000
5:40747021:T:A	acceptor_loss	1.0000
5:40755831:C:A	donor_gain	1.0000
5:40681832:T:TA	donor_gain	0.9900
5:40681833:G:GA	donor_gain	0.9900

AlphaMissense

1728 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:40728374:C:G	A136P	0.999
5:40730321:A:G	W82R	0.999
5:40730321:A:T	W82R	0.999
5:40728376:C:G	R135P	0.998
5:40728379:C:T	G134E	0.998
5:40728425:C:G	A119P	0.998
5:40728434:C:G	A116P	0.998
5:40730333:C:G	A78P	0.998
5:40716497:G:T	A146E	0.997
5:40728367:A:G	L138P	0.997
5:40728379:C:A	G134V	0.997
5:40728380:C:G	G134R	0.997
5:40728380:C:T	G134R	0.997
5:40728445:G:T	A112E	0.997
5:40728446:C:G	A112P	0.997
5:40730267:A:G	S100P	0.997
5:40730312:C:G	A85P	0.997
5:40747001:C:A	W6C	0.997
5:40747001:C:G	W6C	0.997
5:40747003:A:G	W6R	0.997
5:40747003:A:T	W6R	0.997
5:40716487:A:C	S149R	0.996
5:40716487:A:T	S149R	0.996
5:40716489:T:G	S149R	0.996
5:40728373:G:T	A136D	0.996
5:40728433:G:T	A116E	0.996
5:40746823:C:G	G66R	0.996
5:40746823:C:T	G66R	0.996
5:40716431:A:G	L168P	0.995
5:40716476:G:T	A153D	0.995

dbSNP variants (sampled 300 via entrez): RS1000036683 (5:40748259 C>A,T), RS1000106105 (5:40742199 T>G), RS1000154750 (5:40741137 T>A), RS1000178110 (5:40713726 A>T), RS1000207940 (5:40738801 G>A), RS1000240468 (5:40739092 T>C), RS1000242889 (5:40717498 A>G), RS1000423515 (5:40741390 C>T), RS1000547078 (5:40737141 C>CA), RS1000578047 (5:40737453 A>G), RS1000844356 (5:40717759 T>C), RS1000864191 (5:40735247 C>T), RS1000980788 (5:40715586 G>A), RS1001004132 (5:40728980 G>A,T), RS1001023123 (5:40721939 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

1 associations (top):

Study	Trait	p-value
GCST002992_8	Gastric cancer	5.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11749180	PTGER4, TTC33		0.00	0

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression, decreases expression	2
Valproic Acid	decreases expression, increases expression	2
Cyclosporine	increases expression	2
FR900359	increases phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
clothianidin	decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	decreases expression	1
Arsenic	increases abundance, increases expression, affects cotreatment	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cadmium	increases abundance, increases expression	1
Estradiol	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Methyl Methanesulfonate	increases expression	1
Quercetin	decreases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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