TMDD1

Summary

TMDD1 (transmembrane and death domain 1, HGNC:53646) is a protein-coding gene on chromosome 12q13.13, encoding Transmembrane and death domain protein 1 (P0DPE3).

Predicted to be involved in signal transduction. Predicted to be located in membrane.

Source: NCBI Gene 112163659 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001386737

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53646
Approved symbol	TMDD1
Name	transmembrane and death domain 1
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	hCG1648055
Ensembl gene	ENSG00000284730
Ensembl biotype	protein_coding
Entrez	112163659

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000642069

RefSeq mRNA: 1 — MANE Select: NM_001386737 NM_001386737

CCDS: CCDS91698

Canonical transcript exons

ENST00000642069 — 1 exons

Exon	Start	End
ENSE00003813372	51813921	51814925

Expression profiles

Bgee: expression breadth ubiquitous, 104 present calls, max score 60.00.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	60.00	gold quality
left testis	UBERON:0004533	59.95	gold quality
right testis	UBERON:0004534	59.72	gold quality
liver	UBERON:0002107	59.05	gold quality
metanephros cortex	UBERON:0010533	58.78	gold quality
sural nerve	UBERON:0015488	58.30	silver quality
testis	UBERON:0000473	58.07	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	55.63	gold quality
subcutaneous adipose tissue	UBERON:0002190	53.31	gold quality
cortex of kidney	UBERON:0001225	52.94	gold quality
thoracic mammary gland	UBERON:0005200	51.83	gold quality
adult mammalian kidney	UBERON:0000082	51.68	gold quality
adipose tissue	UBERON:0001013	51.31	gold quality
mucosa of transverse colon	UBERON:0004991	51.09	gold quality
kidney	UBERON:0002113	50.33	gold quality
minor salivary gland	UBERON:0001830	49.40	gold quality
adenohypophysis	UBERON:0002196	49.40	gold quality
right lobe of thyroid gland	UBERON:0001119	48.74	gold quality
omental fat pad	UBERON:0010414	48.66	gold quality
pituitary gland	UBERON:0000007	48.56	gold quality
tibial nerve	UBERON:0001323	48.46	gold quality
left lobe of thyroid gland	UBERON:0001120	48.43	gold quality
saliva-secreting gland	UBERON:0001044	48.31	gold quality
thyroid gland	UBERON:0002046	46.97	gold quality
apex of heart	UBERON:0002098	46.51	gold quality
spleen	UBERON:0002106	46.31	gold quality
granulocyte	CL:0000094	46.20	silver quality
stromal cell of endometrium	CL:0002255	46.11	gold quality
body of pancreas	UBERON:0001150	45.81	gold quality
transverse colon	UBERON:0001157	45.66	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.79

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-226m16.3	ENSDARG00000026864

Protein

Protein identifiers

Transmembrane and death domain protein 1 — P0DPE3 (reviewed: P0DPE3)

All UniProt accessions (1): P0DPE3

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001373666* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000488	Death_dom	Domain

UniProt features (9 total): topological domain 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, region of interest 1, compositionally biased region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DPE3-F1	66.90	0.07

Functional residue map

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

Glycosylation sites (1): 78

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (1): signal transduction (GO:0007165)

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

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

52 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMDD1	SMIM38	A0A286YFK9	812
TMDD1	FAM240C	A0A1B0GVR7	795
TMDD1	SMIM28	A0A1B0GU29	766
TMDD1	SMIM36	A0A1B0GVT2	659
TMDD1	SMIM41	A0A2R8YCJ5	654
TMDD1	C1orf232	A0A0U1RR37	644
TMDD1	EDDM13	A0A1B0GTR0	644
TMDD1	SCYGR7	A0A286YF01	622
TMDD1	CCDC201	A0A1B0GTI1	580
TMDD1	SPAAR	A0A1B0GVQ0	570
TMDD1	C10orf143	A0A1B0GUT2	570
TMDD1	ETDA	Q3ZM63	512
TMDD1	ETDC	A0A1B0GVM5	511
TMDD1	MYMX	A0A1B0GTQ4	507
TMDD1	STRIT1	P0DN84	506

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0U1RQ45, A0A0U1RQS6, A0A286YF58, A0A2R8YCJ5, A0A7I2V3R4, A2A699, A2VDX9, A6NCS6, A6NGB7, A6NJG2, A6NKF7, A6NKL6, A6NLJ0, A8MVW0, B2RU40, B7Z1M9, B8ZZ34, C9JH25, C9JVW0, D4A9R4, J3QNX5, M0QZC1, P03971, P0CG09, P0DPE3, Q0PHV7, Q0VD38, Q14761, Q29RK8, Q29RM6, Q2KJ18, Q2M3G4, Q2M3V2, Q5T442, Q64697, Q69YZ2, Q6F5E0, Q6NY19, Q6UXK2, Q80XF7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1968 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:51814513:C:A	W127C	0.996
12:51814513:C:G	W127C	0.996
12:51814751:A:G	F48S	0.994
12:51814479:G:T	R139S	0.993
12:51814450:C:A	K148N	0.989
12:51814450:C:G	K148N	0.989
12:51814511:T:A	D128V	0.988
12:51814515:A:G	W127R	0.988
12:51814515:A:T	W127R	0.988
12:51814478:C:G	R139P	0.986
12:51814751:A:C	F48C	0.986
12:51814493:A:G	L134P	0.985
12:51814778:A:G	L39P	0.984
12:51814479:G:C	R139G	0.983
12:51814461:C:T	E145K	0.982
12:51814511:T:G	D128A	0.981
12:51814760:C:G	C45S	0.981
12:51814761:A:T	C45S	0.981
12:51814438:C:A	Q152H	0.980
12:51814438:C:G	Q152H	0.980
12:51814775:A:G	L40P	0.980
12:51814451:T:A	K148M	0.979
12:51814218:C:G	G226R	0.977
12:51814315:C:A	W193C	0.976
12:51814315:C:G	W193C	0.976
12:51814493:A:T	L134Q	0.976
12:51814761:A:G	C45R	0.976
12:51814217:C:T	G226D	0.975
12:51814483:G:C	S137R	0.975
12:51814483:G:T	S137R	0.975

dbSNP variants (sampled 300 via entrez): RS1001209676 (12:51814352 G>A,C), RS1001240781 (12:51814557 C>A,G,T), RS1001528710 (12:51814772 G>C,T), RS1001985632 (12:51813735 G>A,C), RS1002050618 (12:51815091 C>G), RS1002354707 (12:51813466 A>G), RS1004845862 (12:51815079 C>T), RS1005561502 (12:51815301 C>T), RS1005597131 (12:51815586 G>A,C), RS1005851325 (12:51816390 G>A,T), RS1007103348 (12:51814806 G>A), RS1007420627 (12:51816024 C>G), RS1008136861 (12:51814006 A>G), RS1008837520 (12:51814091 T>C), RS1008924727 (12:51815439 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, increases abundance	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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