TP53INP1

Summary

TP53INP1 (tumor protein p53 inducible nuclear protein 1, HGNC:18022) is a protein-coding gene on chromosome 8q22.1, encoding Tumor protein p53-inducible nuclear protein 1 (Q96A56). Antiproliferative and proapoptotic protein involved in cell stress response which acts as a dual regulator of transcription and autophagy.

Predicted to enable antioxidant activity. Involved in autophagic cell death; positive regulation of DNA-templated transcription; and positive regulation of autophagy. Located in autophagosome; cytosol; and nucleus.

Source: NCBI Gene 94241 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_033285

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18022
Approved symbol	TP53INP1
Name	tumor protein p53 inducible nuclear protein 1
Location	8q22.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap
Ensembl gene	ENSG00000164938
Ensembl biotype	protein_coding
OMIM	606185
Entrez	94241

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000342697, ENST00000448464, ENST00000942548

RefSeq mRNA: 2 — MANE Select: NM_033285 NM_001135733, NM_033285

CCDS: CCDS47899, CCDS6265

Canonical transcript exons

ENST00000342697 — 4 exons

Exon	Start	End
ENSE00001203820	94939860	94940220
ENSE00001381793	94940830	94941091
ENSE00002104980	94949154	94949378
ENSE00003557160	94925972	94930728

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 99.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.6152 / max 656.6983, expressed in 1762 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
94003	31.2503	1760
94002	3.0082	1035
94000	0.2551	94
94001	0.1015	51

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	99.17	gold quality
sperm	CL:0000019	98.09	gold quality
epithelium of nasopharynx	UBERON:0001951	97.85	gold quality
thymus	UBERON:0002370	97.72	gold quality
bronchial epithelial cell	CL:0002328	97.10	gold quality
ileal mucosa	UBERON:0000331	97.09	gold quality
bronchus	UBERON:0002185	97.01	gold quality
body of pancreas	UBERON:0001150	95.96	gold quality
visceral pleura	UBERON:0002401	95.16	gold quality
parietal pleura	UBERON:0002400	95.09	gold quality
germinal epithelium of ovary	UBERON:0001304	94.94	gold quality
palpebral conjunctiva	UBERON:0001812	94.84	gold quality
trachea	UBERON:0003126	94.72	gold quality
pylorus	UBERON:0001166	94.68	gold quality
epithelial cell of pancreas	CL:0000083	94.67	silver quality
upper arm skin	UBERON:0004263	94.62	gold quality
bone marrow cell	CL:0002092	94.51	gold quality
secondary oocyte	CL:0000655	94.26	gold quality
bone marrow	UBERON:0002371	94.10	gold quality
liver	UBERON:0002107	94.01	gold quality
buccal mucosa cell	CL:0002336	93.86	gold quality
nasal cavity epithelium	UBERON:0005384	93.63	gold quality
right lobe of liver	UBERON:0001114	93.61	gold quality
cardiac muscle of right atrium	UBERON:0003379	93.52	gold quality
pancreatic ductal cell	CL:0002079	93.43	gold quality
lymph node	UBERON:0000029	93.43	gold quality
oocyte	CL:0000023	93.06	gold quality
amniotic fluid	UBERON:0000173	92.70	gold quality
pancreas	UBERON:0001264	92.69	gold quality
superficial temporal artery	UBERON:0001614	92.62	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	27.53
E-MTAB-8142	yes	21.37
E-MTAB-9067	yes	16.23
E-CURD-122	yes	4.99

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
CASP3	Activation
COL1A1	Repression
COL3A1	Repression

Upstream regulators (CollecTRI, top): E2F1, MYC, MYCN, TP53

miRNA regulators (miRDB)

340 targeting TP53INP1, 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-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-5011-5P	100.00	83.46	5820
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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3662	99.99	73.82	5684

Literature-anchored findings (GeneRIF, showing 40)

• Data show that induction of the stress-induced proteins (SIPs) SIP18 and SIP27, in human- and mouse-derived cell lines, is absent from cells with deleted, mutated or inactive p53, suggesting that regulation of SIP gene expression is dependent on p53. (PMID:12067065)
• Assignment of tumor protein p53 induced nuclear protein 1 (TP53INP1) gene to human chromosome band 8q22 by in situ hybridization. (PMID:12438758)
• TP53INP1s and HIPK2 could be partners in regulating p53 activity. (PMID:12851404)
• TP53INP1s are functionally associated with p73 to regulate cell cycle progression and apoptosis. (PMID:16044147)
• TP53INP1 protein negativity is significantly associated with aggressive pathological phenotypes of gastric cancer. (PMID:16521180)
• TP531NP1 plays a significant role in the progression of anaplastic carcinoma or contributes to anaplastic transformation from papillary or follicular carcinoma, which is in sharp contrast to findings in previous in vitro and in vivo studies. (PMID:17393983)
• PLZF upregulates apoptosis-inducer TP53INP1, ID1, and ID3 genes, and downregulates the apoptosis-inhibitor TERT gene (PMID:17537403)
• The p53DINP1 mRna expression in the antral mucosa was significantly lower in the gastric cancer patients than in the chronic gastritis patients. (PMID:18277906)
• P53DINP1 mRNA expression promotes Ser46 phophlrylation of p53, without finding a significant correlation between mRNA expression of p53AIP1. (PMID:18277909)
• findings implicate a miR-93/miR-130b-TP53INP1 axis that affects the proliferation and survival of HTLV-1-infected/transformed cells (PMID:18974142)
• TP53INP1 is a tumor suppressor in esophageal squamous cell carcinoma (ESCC0; c-Myc-mediated DNA methylation-associated silencing of TP53INP1 contributed to the pathogenesis of human ESCC. (PMID:21219856)
• This novel TP53INP1 activity on the regulation of SPARC expression could explain in part its tumor suppressor function in pancreatic adenocarcinoma by modulating cellular spreading during the metastatic process (PMID:21339733)
• In normal prostate tissues, TP53INP1 is only expressed in prostate basal cells. There is a de novo TP53INP1 expression in prostate luminal cells in inflammatory prostate tissues, high grade PIN lesions and in prostate cancer. (PMID:21538421)
• TP53INP1 antisense oligonucleotide inhibits proliferation and induces apoptosis in castration-sensitive LNCaP tumor cells. (PMID:22213058)
• cell death observed after TP53INP1-LC3 interaction depends on both autophagy and caspase activity. (PMID:22421968)
• TP53INP1 identified two conserved regions in the DOR family that concentrate multiple functions crucial for autophagy and transcription. (PMID:22470510)
• miR-17-5p functions as a tumor suppressor in cervical cancer cells by targeting tumor protein p53-induced nuclear protein 1. (PMID:22730212)
• Fndings indicate that miR-17-5p/20a promote gastric cancer cell proliferation and inhibit cell apoptosis via post-transcriptional modulation of p21 and TP53INP1. (PMID:23333058)
• Upregulation of miR-155, mediated by estradiol, and consequent downregulation of TP53INP1 potentially promotes breast cancer development and progression. (PMID:23568502)
• Expression of miR-155 is significantly higher in MCF-7 cells compared with MDA-MB-231 cells. Ectopic expression of TP53INP1 inhibits growth of MCF-7 cells by inducing cell apoptosis and inhibiting cell cycle progression. (PMID:24152184)
• miR-182/TP53INP1 signaling represents a novel pathway regulating chemoresistance in cisplatin-treated hepatocellular carcinoma (PMID:24447717)
• Study reveals that miR-155 acts as an oncogene by targeting TP53INP1 in esophageal squamous cell carcinoma. (PMID:24551280)
• TP53INP1 SUMOylation is essential for the regulation of p53 activity induced by oxidative stress. (PMID:24608790)
• GWAS identifies TP53INP1 as new susceptibility gene for Alzheimer’s disease. (PMID:24922517)
• Results demonstrate that miR-569 is overexpressed in a subset of ovarian and breast cancers and alters cell survival and proliferation through downregulation of TP53INP1 expression. (PMID:25490449)
• miR-155 may play an important role in promoting the generation of stem cell-like cells and their self-renewal by targeting the gene TP53INP1. (PMID:25601564)
• TGFB1 induced miR-155 regulates TP53INP1 expression, epithelial-mesenchymal transition and acquisition of a stem cell phenotype. (PMID:25633840)
• MicroRNA205 promotes the tumorigenesis of nasopharyngeal carcinoma through targeting TP53INP1 protein. (PMID:26252115)
• FOXP1, TP53INP1, TNFAIP3, and TUSC2 were identified as miR-19a targets. (PMID:26367773)
• silencing of TP53inp1 leads radiation induced autophagy impairment and induces accumulation of damaged mitochondria in primary human fibroblasts. (PMID:26512655)
• miR-205/TP53INP1 mediated autophagy pathway might be an important molecular mechanism regulating radiosensitivity of prostate cancer cells (PMID:26813458)
• Negative TP53INP1 protein levels correlated with a poor outcome in pediatric ependymoma. Direct binding of miR-124-3p to its target TP53INP1 is demonstrated. (PMID:28437838)
• Low TP53INP1 expression is associated with Metastasis of Hepatocellular Carcinoma. (PMID:28674078)
• these results revealed that TP53INP1 is a target gene of miR-504 and that miR-504 enhances osteosarcoma growth and promotes distant metastases by targeting TP53INP1. Thus, miR-504/TP53INP1 may be associated with osteosarcoma size and clinical stage. (PMID:29048685)
• Study elucidated StarD13 messenger RNA as a Competitive endogenous messenger RNA (ceRNA) in regulating migration and invasion of breast cancer cells. MicroRNA-125b was identified to induce metastasis of MCF-7 cells and bind with both StarD13 3’UTR and TP53INP1 3’UTR. Therefore, a ceRNA interaction between StarD13 and TP53INP1 mediated by competitively binding to miR-125b was indicated. (PMID:29146309)
• Upregulated miR-200a enhances treatment resistance via antagonizing TP53INP1 and YAP1 in breast cancer. (PMID:29329575)
• TP53INP1 inhibits hypoxia-induced epithelial-mesenchymal transition and vasculogenic mimicry formation via the ROS/GSK-3beta/Snail pathway in breast cancer.TP53INP1 expression in the breast cancer tissues is negatively correlated with poor prognosis. (PMID:29655255)
• GATA3 and TP53INP1 were identified as targets of miR155. Exosomal miR155 inhibited these targets by directly targeting their 3’ untranslated regions. Knockdown of miR1555p was observed to reverse the EMT and chemoresistant phenotypes of gastric cancer cells, potentially via GATA3 and TP53INP1 upregulation. (PMID:30365045)
• We show that low expression of TP53INP1 is an independent factor of poor prognosis in breast cancer patients, especially ERalpha-positive patients (PMID:30855679)
• MicroRNA-15a-5p down-regulation inhibits cervical cancer by targeting TP53INP1 in vitro. (PMID:31646552)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tp53inp1	ENSDARG00000028017
mus_musculus	Trp53inp1	ENSMUSG00000028211
rattus_norvegicus	Trp53inp1	ENSRNOG00000078269

Paralogs (1): TP53INP2 (ENSG00000078804)

Protein

Protein identifiers

Tumor protein p53-inducible nuclear protein 1 — Q96A56 (reviewed: Q96A56)

Alternative names: Stress-induced protein, p53-dependent damage-inducible nuclear protein 1

All UniProt accessions (1): Q96A56

UniProt curated annotations — full annotation on UniProt →

Function. Antiproliferative and proapoptotic protein involved in cell stress response which acts as a dual regulator of transcription and autophagy. Acts as a positive regulator of autophagy. In response to cellular stress or activation of autophagy, relocates to autophagosomes where it interacts with autophagosome-associated proteins GABARAP, GABARAPL1/L2, MAP1LC3A/B/C and regulates autophagy. Acts as an antioxidant and plays a major role in p53/TP53-driven oxidative stress response. Possesses both a p53/TP53-independent intracellular reactive oxygen species (ROS) regulatory function and a p53/TP53-dependent transcription regulatory function. Positively regulates p53/TP53 and p73/TP73 and stimulates their capacity to induce apoptosis and regulate cell cycle. In response to double-strand DNA breaks, promotes p53/TP53 phosphorylation on ‘Ser-46’ and subsequent apoptosis. Acts as a tumor suppressor by inducing cell death by an autophagy and caspase-dependent mechanism. Can reduce cell migration by regulating the expression of SPARC.

Subunit / interactions. Interacts with p53/TP53 and HIPK2. Interacts with PRKCG, GABARAP, GABARAPL1, GABARAPL2, MAP1LC3A, MAP1LC3B and MAP1LC3C.

Subcellular location. Cytoplasm. Cytosol. Nucleus. PML body. Cytoplasmic vesicle. Autophagosome.

Tissue specificity. Ubiquitously expressed.

Domain organisation. The LC3 interacting region (LIR) motif mediates interaction with GABARAP, GABARAPL1, GABARAPL2, MAP1LC3A, MAP1LC3B and MAP1LC3C.

Induction. By adriamycin, gamma irradiation and H(2)O(2), in a p53/TP53-dependent way. At lower levels by UV irradiation. By TP73.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96A56-1	1, p53DINP1a, alpha, SIP27, TEAP	yes
Q96A56-2	2, p53DINP1b, beta, SIP18

RefSeq proteins (2): NP_001129205, NP_150601* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029431	TP53INP	Family

Pfam: PF14839

UniProt features (4 total): chain 1, short sequence motif 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96A56-F1	58.45	0.00

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-6803204	TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
R-HSA-6804756	Regulation of TP53 Activity through Phosphorylation
R-HSA-212436	Generic Transcription Pathway
R-HSA-3700989	Transcriptional Regulation by TP53
R-HSA-5633007	Regulation of TP53 Activity
R-HSA-5633008	TP53 Regulates Transcription of Cell Death Genes
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)

MSigDB gene sets: 399 (showing top): WILLIAMS_ESR1_TARGETS_DN, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_RESPONSE_TO_ETHANOL, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_VACUOLE_ORGANIZATION, GOBP_CELLULAR_RESPONSE_TO_UV, FISCHER_G1_S_CELL_CYCLE, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, RAMJAUN_APOPTOSIS_BY_TGFB1_VIA_MAPK1_UP

GO Biological Process (20): autophagosome assembly (GO:0000045), apoptotic process (GO:0006915), negative regulation of cell population proliferation (GO:0008285), response to heat (GO:0009408), positive regulation of autophagy (GO:0010508), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), negative regulation of cell migration (GO:0030336), cellular response to UV (GO:0034644), positive regulation of apoptotic process (GO:0043065), positive regulation of DNA-templated transcription (GO:0045893), autophagic cell death (GO:0048102), negative regulation of fibroblast proliferation (GO:0048147), regulation of cell cycle (GO:0051726), cellular response to ethanol (GO:0071361), cellular response to hydroperoxide (GO:0071447), cellular response to methyl methanesulfonate (GO:0072703), negative regulation of myofibroblast differentiation (GO:1904761), autophagy (GO:0006914), cellular oxidant detoxification (GO:0098869)

GO Molecular Function (2): antioxidant activity (GO:0016209), protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), autophagosome (GO:0005776), cytosol (GO:0005829), PML body (GO:0016605), cytoplasmic vesicle (GO:0031410), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Transcriptional Regulation by TP53	2
TP53 Regulates Transcription of Cell Death Genes	1
Regulation of TP53 Activity	1
RNA Polymerase II Transcription	1
Generic Transcription Pathway	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
programmed cell death	2
gene expression	2
regulation of gene expression	2
cellular response to oxygen-containing compound	2
cytoplasm	2
Atg12 activating enzyme activity	1
protein-phosphatidylethanolamide deconjugating activity	1
Atg12 conjugating enzyme activity	1
Atg12 ligase activity	1
organelle assembly	1
Atg1/ULK1 kinase complex assembly	1
autophagosome organization	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
response to stress	1
response to temperature stimulus	1
autophagy	1
positive regulation of catabolic process	1
regulation of autophagy	1
positive regulation of macromolecule biosynthetic process	1
negative regulation of macromolecule biosynthetic process	1
cell migration	1
regulation of cell migration	1
negative regulation of cell motility	1
response to UV	1
cellular response to light stimulus	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
macroautophagy	1
negative regulation of cell population proliferation	1
fibroblast proliferation	1
regulation of fibroblast proliferation	1

Protein interactions and networks

STRING

1158 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TP53INP1	HIPK2	Q9H2X6	847
TP53INP1	NUPR1	O60356	766
TP53INP1	GABARAPL2	P60520	703
TP53INP1	F5GZY7	F5GZY7	700
TP53INP1	TP53AIP1	Q9HCN2	624
TP53INP1	TP53	P04637	596
TP53INP1	JAZF1	Q86VZ6	533
TP53INP1	CDKN1A	P38936	511
TP53INP1	KLRK1	P26718	501
TP53INP1	SLC30A8	Q8IWU4	499
TP53INP1	CD300C	Q08708	491
TP53INP1	EIF2S1	P05198	465
TP53INP1	CASZ1	Q86V15	451
TP53INP1	HSPA4	P34932	446
TP53INP1	SESN1	Q9Y6P5	444

IntAct

36 interactions, top by confidence:

A	B	Type	Score
TP53INP1	GABARAPL1	psi-mi:“MI:0915”(physical association)	0.600
	TP53INP1	psi-mi:“MI:0915”(physical association)	0.600
GABARAPL1	TP53INP1	psi-mi:“MI:0915”(physical association)	0.600
TP53INP1	GABARAP	psi-mi:“MI:0915”(physical association)	0.560
UNC119	TP53INP1	psi-mi:“MI:0915”(physical association)	0.560
GABARAPL2	TP53INP1	psi-mi:“MI:0915”(physical association)	0.560
TP53INP1	MAP1LC3C	psi-mi:“MI:0915”(physical association)	0.560
TP53INP1	SEC22A	psi-mi:“MI:0915”(physical association)	0.560
GABARAP	TP53INP1	psi-mi:“MI:0915”(physical association)	0.560
TP53INP1	PRKCD	psi-mi:“MI:0915”(physical association)	0.400
CAMK2D	DVL2	psi-mi:“MI:0914”(association)	0.350
TP53INP1	TBC1D4	psi-mi:“MI:0914”(association)	0.350
GABARAPL1	TP53INP1	psi-mi:“MI:0915”(physical association)	0.000
UNC119	TP53INP1	psi-mi:“MI:0915”(physical association)	0.000
TP53INP1		psi-mi:“MI:0915”(physical association)	0.000
TP53INP1	GABARAPL2	psi-mi:“MI:0915”(physical association)	0.000
TP53INP1	GABARAPL1	psi-mi:“MI:0915”(physical association)	0.000
TP53INP1	MAP1LC3C	psi-mi:“MI:0915”(physical association)	0.000
SEC22A	TP53INP1	psi-mi:“MI:0915”(physical association)	0.000
GABARAPL2	TP53INP1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (40): GABARAP (Two-hybrid), GABARAPL2 (Two-hybrid), GABARAP (Affinity Capture-Western), GABARAPL2 (Affinity Capture-Western), MAP1LC3A (Affinity Capture-Western), GABARAP (FRET), GABARAPL2 (FRET), MAP1LC3A (FRET), SQSTM1 (FRET), ZBTB9 (Affinity Capture-MS), ASPM (Affinity Capture-MS), TBC1D4 (Affinity Capture-MS), YEATS2 (Affinity Capture-MS), CSRP2BP (Affinity Capture-MS), TP53INP1 (Affinity Capture-RNA)

ESM2 similar proteins: A0P8Z5, A6NCL1, A8E4V2, B5DF41, D3YN49, D3ZDX9, D6RGH6, F1QN48, F1SLM8, F7BHS0, G3N1S4, O15079, P12841, P20389, P24793, P97432, Q08B36, Q14140, Q14596, Q14DQ1, Q1LWL8, Q3SYW5, Q3U827, Q3UKU1, Q3URY2, Q3UZ45, Q4KMA0, Q4R3X1, Q501R9, Q5R8C5, Q5RC94, Q5RD40, Q64210, Q6P2K3, Q6ZNC4, Q80U23, Q80YE2, Q8NFW9, Q8R0W1, Q96A56

Diamond homologs: Q80YE2, Q8CFU8, Q8CHM3, Q8IXH6, Q96A56, Q9QXE4

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
TP53INP1	up-regulates	GABARAP	binding
TP53INP1	up-regulates	GABARAPL2	binding
TP53INP1	up-regulates	MAP1LC3A	binding
TP53INP1	up-regulates	MAP1LC3B	binding
TP53INP1	up-regulates	MAP1LC3C	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

2 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

911 predictions. Top by Δscore:

Variant	Effect	Δscore
8:94930494:A:AC	donor_gain	1.0000
8:94930495:C:CC	donor_gain	1.0000
8:94930495:CG:C	donor_gain	1.0000
8:94930727:CT:C	acceptor_gain	1.0000
8:94939855:CGTA:C	donor_loss	1.0000
8:94939856:GTACC:G	donor_loss	1.0000
8:94939857:TA:T	donor_loss	1.0000
8:94940825:CTTAC:C	donor_loss	1.0000
8:94940827:TACC:T	donor_loss	1.0000
8:94940828:AC:A	donor_loss	1.0000
8:94940829:C:G	donor_loss	1.0000
8:94941087:TGTAC:T	acceptor_gain	1.0000
8:94930471:TGAA:T	donor_gain	0.9900
8:94930532:TG:T	donor_gain	0.9900
8:94930553:C:A	donor_gain	0.9900
8:94930729:C:CC	acceptor_gain	0.9900
8:94940313:C:T	acceptor_gain	0.9900
8:94940316:C:CT	acceptor_gain	0.9900
8:94940317:A:T	acceptor_gain	0.9900
8:94940322:C:CT	acceptor_gain	0.9900
8:94940324:C:CT	acceptor_gain	0.9900
8:94940325:A:T	acceptor_gain	0.9900
8:94940327:C:CT	acceptor_gain	0.9900
8:94940329:C:CT	acceptor_gain	0.9900
8:94940330:A:T	acceptor_gain	0.9900
8:94940828:A:AC	donor_gain	0.9900
8:94940829:C:CC	donor_gain	0.9900
8:94941088:GTAC:G	acceptor_gain	0.9900
8:94941089:TAC:T	acceptor_gain	0.9900
8:94941091:CCTAA:C	acceptor_loss	0.9900

AlphaMissense

1618 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:94939949:G:C	S128R	0.999
8:94939949:G:T	S128R	0.999
8:94939951:T:G	S128R	0.999
8:94939962:A:T	I124N	0.999
8:94939965:A:G	L123P	0.999
8:94939965:A:T	L123H	0.999
8:94939968:A:G	L122P	0.999
8:94940021:A:C	F104L	0.999
8:94940021:A:T	F104L	0.999
8:94940023:A:G	F104L	0.999
8:94940047:A:G	W96R	0.999
8:94940047:A:T	W96R	0.999
8:94939955:A:C	H126Q	0.998
8:94939955:A:T	H126Q	0.998
8:94939956:T:C	H126R	0.998
8:94939974:T:A	E120V	0.998
8:94940022:A:G	F104S	0.998
8:94940045:C:A	W96C	0.998
8:94940045:C:G	W96C	0.998
8:94940851:A:G	W31R	0.998
8:94940851:A:T	W31R	0.998
8:94939958:T:A	E125D	0.997
8:94939958:T:G	E125D	0.997
8:94939962:A:C	I124S	0.997
8:94939945:A:G	S130P	0.996
8:94939959:T:A	E125V	0.996
8:94939973:T:A	E120D	0.996
8:94939973:T:G	E120D	0.996
8:94940022:A:C	F104C	0.996
8:94940026:A:G	C103R	0.996

dbSNP variants (sampled 300 via entrez): RS1000127895 (8:94928716 G>A,C), RS1000180584 (8:94929068 T>C,G), RS1000232876 (8:94941316 GAA>G), RS1000410030 (8:94935731 A>G), RS1000465371 (8:94942225 G>A), RS1000582273 (8:94934552 AT>A,ATTTT), RS1000759746 (8:94935453 G>A), RS1001470913 (8:94935089 C>A,T), RS1001529965 (8:94935383 G>T), RS1001733758 (8:94933850 A>G), RS1001814404 (8:94928653 C>G), RS1001857039 (8:94928413 A>C), RS1002009489 (8:94947441 T>A), RS1002079837 (8:94934138 G>A,C), RS1002102762 (8:94941202 T>C)

Disease associations

OMIM: gene MIM:606185 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST000712_3	Type 2 diabetes	1.000000e-09
GCST002352_37	Type 2 diabetes	6.000000e-08
GCST004894_144	Type 2 diabetes	2.000000e-06
GCST005047_5	Type 2 diabetes	5.000000e-06
GCST005047_73	Type 2 diabetes	7.000000e-06
GCST005580_68	Intraocular pressure	6.000000e-12
GCST005580_80	Intraocular pressure	2.000000e-11
GCST005983_33	Serum uric acid levels	8.000000e-10
GCST006867_71	Type 2 diabetes	5.000000e-09
GCST006976_125	Macular thickness	2.000000e-10
GCST007725_33	Serum uric acid levels	7.000000e-12
GCST008971_72	Urate levels	1.000000e-07
GCST008972_129	Urate levels	4.000000e-07
GCST008972_5	Urate levels	4.000000e-13
GCST009021_19	Alzheimer’s disease	2.000000e-08
GCST009379_112	Type 2 diabetes	5.000000e-06
GCST009379_113	Type 2 diabetes	3.000000e-11
GCST009379_114	Type 2 diabetes	5.000000e-06
GCST010083_7	Hemoglobin levels	4.000000e-16
GCST010118_166	Type 2 diabetes	6.000000e-09
GCST90002401_512	Platelet distribution width	1.000000e-19
GCST90013407_63	Liver enzyme levels (gamma-glutamyl transferase)	5.000000e-32
GCST90013442_10	Keratoconus	3.000000e-10

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement
EFO:0004761	uric acid measurement
EFO:0004531	urate measurement
EFO:0004509	hemoglobin measurement
EFO:0007984	platelet component distribution width
EFO:0004532	serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

90 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression	5
Cisplatin	affects cotreatment, increases expression	5
Estradiol	decreases expression, affects cotreatment, increases expression	5
Fluorouracil	increases expression, affects reaction, increases reaction	5
sodium arsenite	increases expression, decreases expression	3
(+)-JQ1 compound	increases expression	3
Resveratrol	affects cotreatment, decreases expression, increases expression	3
Tretinoin	increases expression	3
Aflatoxin B1	affects expression, increases expression	3
Genistein	decreases expression, increases expression	3
bisphenol A	affects expression, increases expression	2
Gemcitabine	increases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Hydrogen Peroxide	affects expression	2
Quercetin	increases expression	2
Valproic Acid	decreases expression, affects expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	2
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
chloroacetaldehyde	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
trichostatin A	affects methylation, affects cotreatment, affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
afimoxifene	decreases expression, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
potassium bromate	increases expression, increases methylation	1

Clinical trials (associated diseases)

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