TZMP1

Summary

TZMP1 (transition zone microprotein 1, HGNC:31420) is a protein-coding gene on chromosome 9p21.1, encoding Small integral membrane protein 27 (A0A1B0GUW7).

Predicted to be located in membrane.

Source: NCBI Gene 100129250 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 5 total
• MANE Select transcript: NM_001387564

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31420
Approved symbol	TZMP1
Name	transition zone microprotein 1
Location	9p21.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000235453
Ensembl biotype	protein_coding
Entrez	100129250

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 nonsense_mediated_decay

ENST00000425533, ENST00000450093, ENST00000451672, ENST00000453396, ENST00000635960, ENST00000644531, ENST00000692500, ENST00000898113, ENST00000925426

RefSeq mRNA: 3 — MANE Select: NM_001387564 NM_001349118, NM_001349119, NM_001387564

CCDS: CCDS87647

Canonical transcript exons

ENST00000692500 — 2 exons

Exon	Start	End
ENSE00001669270	32552801	32553007
ENSE00003937854	32552327	32552479

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 93.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.9214 / max 200.2936, expressed in 1793 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
96416	15.1245	1791
96417	0.7550	447
96415	0.0215	3
205453	0.0205	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	93.49	gold quality
right testis	UBERON:0004534	93.43	gold quality
sperm	CL:0000019	92.55	gold quality
periodontal ligament	UBERON:0008266	91.93	gold quality
testis	UBERON:0000473	91.07	gold quality
granulocyte	CL:0000094	90.59	gold quality
male germ cell	CL:0000015	90.33	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	88.28	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.26	gold quality
hindlimb stylopod muscle	UBERON:0004252	88.21	gold quality
prefrontal cortex	UBERON:0000451	88.06	gold quality
adenohypophysis	UBERON:0002196	88.05	gold quality
leukocyte	CL:0000738	87.58	gold quality
monocyte	CL:0000576	87.30	gold quality
mononuclear cell	CL:0000842	87.20	gold quality
pituitary gland	UBERON:0000007	86.88	gold quality
blood	UBERON:0000178	86.31	gold quality
left adrenal gland cortex	UBERON:0035825	86.29	gold quality
nucleus accumbens	UBERON:0001882	86.04	gold quality
spinal cord	UBERON:0002240	86.04	gold quality
amygdala	UBERON:0001876	85.94	gold quality
caudate nucleus	UBERON:0001873	85.60	gold quality
bone marrow cell	CL:0002092	85.55	gold quality
putamen	UBERON:0001874	85.54	gold quality
anterior cingulate cortex	UBERON:0009835	85.45	gold quality
cingulate cortex	UBERON:0003027	85.37	gold quality
muscle of leg	UBERON:0001383	85.25	gold quality
left adrenal gland	UBERON:0001234	85.20	gold quality
gastrocnemius	UBERON:0001388	84.98	gold quality
bone marrow	UBERON:0002371	84.79	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.12

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Small integral membrane protein 27 — A0A1B0GUW7 (reviewed: A0A1B0GUW7)

Alternative names: TOPORS antisense RNA 1

All UniProt accessions (6): A0A1B0GUW7, A0A1B0GV65, A0A1B0GW09, A0A1W2PRY6, A0A286YEC1, A0A2R8Y3B0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (3): NP_001336047, NP_001336048, NP_001374493* (*=MANE)

Domains & families (InterPro)

UniProt features (2 total): chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GUW7-F1	78.14	0.26

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 59 (showing top): GARY_CD5_TARGETS_UP, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A12, CIITA_TARGET_GENES, DYRK1A_TARGET_GENES, ELF2_TARGET_GENES, GLI3_TARGET_GENES, HOXB4_TARGET_GENES, NFE2L1_TARGET_GENES, TAF9B_TARGET_GENES, TFEB_TARGET_GENES, ZNF322_TARGET_GENES, ZNF407_TARGET_GENES, ZNF507_TARGET_GENES, ZNF563_TARGET_GENES

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

38 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TZMP1	ASNSD1	Q9NWL6	782
TZMP1	ASDURF	L0R819	559
TZMP1	LUZP6	Q538Z0	278
TZMP1	HOXA11	P31270	270
TZMP1	AFAP1	Q8N556	252
TZMP1	BMERB1	Q96MC5	249
TZMP1	TNP1	P09430	247
TZMP1	NDUFB6	O95139	246
TZMP1	TOPORS	Q9NS56	228
TZMP1	ST3GAL4	Q11206	221
TZMP1	HNRNPA2B1	P22626	201
TZMP1	POLR2M	P0CAP2	189
TZMP1	MAFG	O15525	189
TZMP1	TLX1	P31314	181
TZMP1	MTPN	P58546	173

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GUW7, A2BRN6, A3PDG2, A4ZUC6, A7MNL7, A8G5C7, A8YXZ8, B1AXP6, B1WYX8, B2J6T0, B5XQ45, B7JYE8, B7KH62, B8HVD7, C0H3U2, F5HHL7, O12163, O70891, P05139, P0C0Y1, P0DPP7, P27387, P27388, P30248, P30395, P32273, P35109, P39222, P58569, P80100, P80101, Q03561, Q05807, Q10ZK6, Q25BI5, Q31AG7, Q3J1A3, Q3MC09, Q4G3E7, Q54697

Diamond homologs: A0A140LHV9, A0A1B0GUW7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

798 predictions. Top by Δscore:

Variant	Effect	Δscore
9:32552428:CCTTA:C	donor_loss	1.0000
9:32552429:CTTA:C	donor_loss	1.0000
9:32552431:TA:T	donor_loss	1.0000
9:32552432:A:AG	donor_loss	1.0000
9:32553942:ACCCT:A	acceptor_loss	1.0000
9:32553943:CC:C	acceptor_gain	1.0000
9:32553944:CC:C	acceptor_gain	1.0000
9:32553944:CCTA:C	acceptor_loss	1.0000
9:32553946:T:A	acceptor_loss	1.0000
9:32558908:A:AC	donor_gain	1.0000
9:32558909:C:CC	donor_gain	1.0000
9:32552432:A:AC	donor_gain	0.9900
9:32552433:C:CC	donor_gain	0.9900
9:32553940:TCACC:T	acceptor_gain	0.9900
9:32553941:CACC:C	acceptor_gain	0.9900
9:32553941:CACCC:C	acceptor_gain	0.9900
9:32553945:C:CC	acceptor_gain	0.9900
9:32558909:CA:C	donor_gain	0.9900
9:32558909:CAG:C	donor_gain	0.9900
9:32552427:T:TA	donor_gain	0.9800
9:32553942:ACC:A	acceptor_gain	0.9800
9:32553943:CCC:C	acceptor_gain	0.9800
9:32553945:C:T	acceptor_gain	0.9800
9:32558909:CAGG:C	donor_gain	0.9800
9:32552432:AC:A	donor_gain	0.9700
9:32552433:CC:C	donor_gain	0.9700
9:32558951:TTTCC:T	acceptor_loss	0.9700
9:32558954:CCT:C	acceptor_loss	0.9700
9:32558955:C:T	acceptor_loss	0.9700
9:32558956:T:A	acceptor_loss	0.9700

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000128902 (9:32559151 C>A), RS1000187124 (9:32549228 A>C,T), RS1000202003 (9:32550471 G>A), RS1000297072 (9:32554857 T>C), RS1000384633 (9:32556650 C>T), RS1000730629 (9:32554431 G>A), RS1000732360 (9:32563326 C>G,T), RS1000822371 (9:32566099 T>C), RS1000838319 (9:32559493 G>A), RS1000936408 (9:32565873 G>A), RS1000958205 (9:32551812 C>A,T), RS1001262137 (9:32549319 T>C,G), RS1001514402 (9:32562553 T>C), RS1001860382 (9:32550520 A>G), RS1002459052 (9:32552599 C>A,G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:268000

GenCC curated gene-disease

Mondo (1): retinitis pigmentosa (MONDO:0019200)

Orphanet (1): Retinitis pigmentosa (Orphanet:791)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	affects cotreatment, increases expression	1
Carbamazepine	affects expression	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Thiram	decreases expression	1
Gold Compounds	decreases expression	1
Lactic Acid	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	PHASE2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	PHASE2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	PHASE2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	PHASE2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04356716	PHASE2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
NCT04604899	PHASE2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	PHASE2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	PHASE2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05085964	PHASE2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179	PHASE2	COMPLETED	A Study in Subjects With Retinitis Pigmentosa
NCT06627179	PHASE2	RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	PHASE2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633	PHASE2	RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT00063765	PHASE1	COMPLETED	Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye
NCT00065455	PHASE1	COMPLETED	Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa
NCT00458575	PHASE1	TERMINATED	A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa
NCT01068561	PHASE1	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa