TEDDM1

Summary

TEDDM1 (transmembrane epididymal protein 1, HGNC:30233) is a protein-coding gene on chromosome 1q25.3, encoding Transmembrane epididymal protein 1 (Q5T9Z0).

Predicted to be located in membrane.

Source: NCBI Gene 127670 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 43 total
• MANE Select transcript: NM_172000

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30233
Approved symbol	TEDDM1
Name	transmembrane epididymal protein 1
Location	1q25.3
Locus type	gene with protein product
Status	Approved
Aliases	HE9, Epdd1, TMEM45C, EDDM9
Ensembl gene	ENSG00000203730
Ensembl biotype	protein_coding
OMIM	620288
Entrez	127670

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000367565

RefSeq mRNA: 1 — MANE Select: NM_172000 NM_172000

CCDS: CCDS30953

Canonical transcript exons

ENST00000367565 — 1 exons

Exon	Start	End
ENSE00001445039	182398117	182400667

Expression profiles

Bgee: expression breadth broad, 22 present calls, max score 99.51.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0508 / max 86.0268, expressed in 3 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
16154	0.0286	3
16155	0.0222	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	99.51	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.31	gold quality
caput epididymis	UBERON:0004358	80.39	gold quality
cauda epididymis	UBERON:0004360	76.68	gold quality
calcaneal tendon	UBERON:0003701	58.25	gold quality
sural nerve	UBERON:0015488	54.63	gold quality
tendon	UBERON:0000043	53.82	gold quality
tendon of biceps brachii	UBERON:0008188	53.30	gold quality
sperm	CL:0000019	52.49	gold quality
bone marrow cell	CL:0002092	51.69	gold quality
right uterine tube	UBERON:0001302	50.07	gold quality
cerebellar vermis	UBERON:0004720	49.93	gold quality
seminal vesicle	UBERON:0000998	48.54	gold quality
upper leg skin	UBERON:0004262	47.53	silver quality
cortical plate	UBERON:0005343	47.37	silver quality
quadriceps femoris	UBERON:0001377	46.90	gold quality
vastus lateralis	UBERON:0001379	46.53	gold quality
granulocyte	CL:0000094	46.30	silver quality
skeletal muscle tissue	UBERON:0001134	44.82	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
buccal mucosa cell	CL:0002336	43.30	gold quality
thymus	UBERON:0002370	42.94	gold quality
bone marrow	UBERON:0002371	42.76	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
tonsil	UBERON:0002372	41.77	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
colonic epithelium	UBERON:0000397	41.06	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-38	yes	810.41
E-ANND-3	yes	2.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

65 targeting TEDDM1, 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-3163	100.00	77.23	8605
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-8064	99.45	66.92	875
HSA-MIR-183-3P	99.41	69.41	1598

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Teddm1b	ENSMUSG00000043282
mus_musculus	Teddm1a	ENSMUSG00000047053
rattus_norvegicus	Teddm1b	ENSRNOG00000046786
rattus_norvegicus	Teddm1a	ENSRNOG00000048614

Paralogs (2): TMEM45B (ENSG00000151715), TMEM45A (ENSG00000181458)

Protein

Protein identifiers

Transmembrane epididymal protein 1 — Q5T9Z0 (reviewed: Q5T9Z0)

Alternative names: Human epididymis-specific protein 9

All UniProt accessions (1): Q5T9Z0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the TMEM45 family.

RefSeq proteins (1): NP_741997* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006904	DUF716	Family

Pfam: PF04819

UniProt features (13 total): transmembrane region 6, sequence conflict 5, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T9Z0-F1	82.05	0.55

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 27 (showing top): YOSHIMURA_MAPK8_TARGETS_UP, chr1q25, MIR3662, MIR616_5P, MIR371B_5P, MIR373_5P, MIR3688_3P, MIR203A_3P, MIR4766_5P, MIR1284, MIR1253, MIR1237_3P, MIR4314, MIR4797_3P, MIR4686

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

286 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TEDDM1	LCN9	Q8WX39	622
TEDDM1	LCN6	P62502	576
TEDDM1	SBK2	P0C263	566
TEDDM1	LCN8	Q6JVE9	557
TEDDM1	CST11	Q9H112	542
TEDDM1	ADGRG2	Q8IZP9	520
TEDDM1	SPINT3	P49223	514
TEDDM1	ELSPBP1	Q96BH3	492
TEDDM1	CIMAP1C	Q8IXM7	489
TEDDM1	ADAM7	Q9H2U9	465
TEDDM1	PATE2	Q6UY27	461
TEDDM1	LCN10	Q6JVE6	445
TEDDM1	PATE1	Q8WXA2	428
TEDDM1	DEFB130A	P0DP74	398
TEDDM1	VWA5B2	Q8N398	398

IntAct

0 interactions, top by confidence:

BioGRID (1): TEDDM1 (Synthetic Lethality)

ESM2 similar proteins: A6H7B8, A6NC51, A6NDP7, A7MBB3, A8KBG2, A8XST1, A9JSP6, B2RZ87, C1BKZ7, E9Q9H8, P27922, Q08AU7, Q08DL4, Q22141, Q29M88, Q2ABP2, Q2ABP3, Q32PK2, Q3TQR0, Q3ZC48, Q49LS7, Q4V7T3, Q4V7T7, Q4VV71, Q5BK09, Q5BL33, Q5EAK8, Q5M9A7, Q5RCN7, Q5T9Z0, Q5XGR0, Q6NRS6, Q6PDC8, Q6UW68, Q6UX65, Q7TQJ1, Q810U2, Q8C0T0, Q8CHM9, Q8K0H7

Diamond homologs: Q3T130, Q497B2, Q5T9Z0, Q5XGD7, Q60774, Q6NS09, Q6P0S3, Q8VCZ2, Q96B21, Q9NWC5, Q810U2, Q8CHM9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

93 predictions. Top by Δscore:

Variant	Effect	Δscore
1:182399899:A:C	donor_gain	0.8100
1:182399920:T:TA	donor_gain	0.6800
1:182399873:G:A	donor_gain	0.6600
1:182399722:T:TA	donor_gain	0.6400
1:182399574:CCT:C	donor_gain	0.6000
1:182399907:A:AC	donor_gain	0.6000
1:182399908:C:CC	donor_gain	0.6000
1:182399866:A:AC	donor_gain	0.5300
1:182399965:G:A	donor_gain	0.5200
1:182400564:T:A	donor_gain	0.5200
1:182399904:G:GC	donor_gain	0.5100
1:182400342:A:T	acceptor_gain	0.4800
1:182399570:A:AC	donor_gain	0.4600
1:182399818:C:CT	acceptor_gain	0.4600
1:182400357:A:C	acceptor_gain	0.4300
1:182400338:C:CT	acceptor_gain	0.4200
1:182400341:C:CT	acceptor_gain	0.4200
1:182399491:GTCT:G	acceptor_gain	0.3800
1:182399492:TCTC:T	acceptor_gain	0.3700
1:182399897:A:AC	donor_gain	0.3400
1:182399898:C:CC	donor_gain	0.3400
1:182399568:CCA:C	donor_gain	0.3300
1:182399575:CTT:C	donor_gain	0.3300
1:182399576:TTT:T	donor_gain	0.3300
1:182399811:ATGAT:A	acceptor_gain	0.3300
1:182399835:A:AT	acceptor_gain	0.3300
1:182399836:T:TT	acceptor_gain	0.3300
1:182399896:A:T	donor_gain	0.3300
1:182400335:C:T	acceptor_gain	0.3300
1:182400354:CACA:C	acceptor_gain	0.3200

AlphaMissense

1777 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:182400261:G:C	F75L	0.899
1:182400261:G:T	F75L	0.899
1:182400263:A:G	F75L	0.899
1:182400297:G:C	F63L	0.899
1:182400297:G:T	F63L	0.899
1:182400299:A:G	F63L	0.899
1:182399958:A:C	F176L	0.891
1:182399958:A:T	F176L	0.891
1:182399960:A:G	F176L	0.891
1:182400222:G:C	S88R	0.889
1:182400222:G:T	S88R	0.889
1:182400224:T:G	S88R	0.889
1:182399895:A:C	F197L	0.888
1:182399895:A:T	F197L	0.888
1:182399897:A:G	F197L	0.888
1:182400281:A:G	W69R	0.886
1:182400281:A:T	W69R	0.886
1:182399880:G:C	F202L	0.883
1:182399880:G:T	F202L	0.883
1:182399882:A:G	F202L	0.883
1:182399876:A:G	W204R	0.880
1:182399876:A:T	W204R	0.880
1:182399978:A:G	W170R	0.868
1:182399978:A:T	W170R	0.868
1:182399883:G:C	F201L	0.847
1:182399883:G:T	F201L	0.847
1:182399885:A:G	F201L	0.847
1:182399927:A:G	W187R	0.827
1:182399927:A:T	W187R	0.827
1:182400279:C:A	W69C	0.815

dbSNP variants (sampled 300 via entrez): RS1000447752 (1:182399471 G>A), RS1000842293 (1:182401178 T>C), RS1000881927 (1:182399179 C>T), RS1002417875 (1:182402449 A>G,T), RS1002901621 (1:182402193 G>T), RS1003416959 (1:182398879 C>T), RS1003877042 (1:182398578 G>A,C), RS1004758483 (1:182402201 G>A,T), RS1006231417 (1:182398747 A>T), RS1007375655 (1:182397769 A>G), RS1007737111 (1:182398075 A>G), RS1008032670 (1:182400776 G>A,T), RS1008241723 (1:182401657 T>C), RS1008344991 (1:182401047 G>T), RS1009383292 (1:182398560 G>A)

Disease associations

OMIM: gene MIM:620288 | 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
GCST009391_996	Metabolite levels	8.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010475	deoxycholate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
butyraldehyde	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Copper	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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