HNRNPUL1
gene geneOn this page
Also known as E1B-AP5E1BAP5FLJ12944
Summary
HNRNPUL1 (heterogeneous nuclear ribonucleoprotein U like 1, HGNC:17011) is a protein-coding gene on chromosome 19q13.2, encoding Heterogeneous nuclear ribonucleoprotein U-like protein 1 (Q9BUJ2). Acts as a basic transcriptional regulator.
This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus early-1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by early-1B-55kDa in adenovirus-infected cells.
Source: NCBI Gene 11100 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 106 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_007040
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17011 |
| Approved symbol | HNRNPUL1 |
| Name | heterogeneous nuclear ribonucleoprotein U like 1 |
| Location | 19q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | E1B-AP5, E1BAP5, FLJ12944 |
| Ensembl gene | ENSG00000105323 |
| Ensembl biotype | protein_coding |
| OMIM | 605800 |
| Entrez | 11100 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 15 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000263367, ENST00000352456, ENST00000378215, ENST00000392006, ENST00000593587, ENST00000594207, ENST00000595018, ENST00000595196, ENST00000595336, ENST00000595806, ENST00000597725, ENST00000599521, ENST00000599614, ENST00000599719, ENST00000600332, ENST00000600493, ENST00000600596, ENST00000601309, ENST00000601336, ENST00000602130, ENST00000617774, ENST00000851914
RefSeq mRNA: 5 — MANE Select: NM_007040
NM_001301016, NM_001321208, NM_001321211, NM_007040, NM_144732
CCDS: CCDS12576, CCDS12577, CCDS82351
Canonical transcript exons
ENST00000392006 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002229704 | 41264372 | 41264798 |
| ENSE00003128056 | 41306449 | 41307787 |
| ENSE00003475476 | 41272082 | 41272235 |
| ENSE00003503261 | 41276159 | 41276298 |
| ENSE00003514719 | 41279077 | 41279176 |
| ENSE00003526018 | 41268223 | 41268345 |
| ENSE00003559428 | 41292245 | 41292511 |
| ENSE00003585942 | 41273982 | 41274055 |
| ENSE00003588424 | 41294558 | 41294686 |
| ENSE00003634127 | 41305676 | 41305867 |
| ENSE00003643382 | 41294338 | 41294460 |
| ENSE00003647185 | 41303972 | 41304261 |
| ENSE00003652933 | 41302665 | 41302949 |
| ENSE00003658209 | 41301536 | 41301704 |
| ENSE00003679215 | 41281163 | 41281275 |
Expression profiles
Bgee: expression breadth ubiquitous, 300 present calls, max score 98.75.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 116.1278 / max 647.0419, expressed in 1827 samples.
FANTOM5 promoters (31 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175968 | 62.5525 | 1821 |
| 175967 | 19.0552 | 1811 |
| 175974 | 5.8487 | 1562 |
| 175996 | 3.5370 | 1456 |
| 175969 | 3.4762 | 1490 |
| 175964 | 2.4849 | 1169 |
| 175954 | 2.1826 | 1074 |
| 175986 | 1.2708 | 866 |
| 175976 | 1.2350 | 761 |
| 175966 | 1.2225 | 828 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 98.75 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.71 | gold quality |
| sural nerve | UBERON:0015488 | 98.24 | gold quality |
| cortical plate | UBERON:0005343 | 98.09 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.76 | gold quality |
| left ovary | UBERON:0002119 | 97.74 | gold quality |
| stromal cell of endometrium | CL:0002255 | 97.50 | gold quality |
| right ovary | UBERON:0002118 | 97.46 | gold quality |
| bone marrow cell | CL:0002092 | 97.41 | gold quality |
| body of uterus | UBERON:0009853 | 97.38 | gold quality |
| endocervix | UBERON:0000458 | 97.34 | gold quality |
| popliteal artery | UBERON:0002250 | 97.34 | gold quality |
| tibial artery | UBERON:0007610 | 97.34 | gold quality |
| monocyte | CL:0000576 | 97.32 | gold quality |
| leukocyte | CL:0000738 | 97.29 | gold quality |
| mononuclear cell | CL:0000842 | 97.26 | gold quality |
| left uterine tube | UBERON:0001303 | 97.25 | gold quality |
| skin of leg | UBERON:0001511 | 97.25 | gold quality |
| ectocervix | UBERON:0012249 | 97.19 | gold quality |
| granulocyte | CL:0000094 | 97.17 | gold quality |
| right lung | UBERON:0002167 | 97.17 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.16 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.16 | gold quality |
| right coronary artery | UBERON:0001625 | 97.12 | gold quality |
| colonic epithelium | UBERON:0000397 | 97.11 | gold quality |
| lower esophagus | UBERON:0013473 | 97.10 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 97.10 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.04 | gold quality |
| skin of abdomen | UBERON:0001416 | 96.96 | gold quality |
| lymph node | UBERON:0000029 | 96.92 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 80.32 |
| E-CURD-88 | yes | 20.81 |
| E-ANND-3 | yes | 11.65 |
| E-CURD-135 | no | 842.69 |
| E-HCAD-8 | no | 391.84 |
| E-MTAB-7008 | no | 217.50 |
| E-MTAB-6524 | no | 94.15 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC, TP53
miRNA regulators (miRDB)
79 targeting HNRNPUL1, 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-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| 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-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-519A-3P | 99.67 | 71.67 | 1868 |
| HSA-MIR-519B-3P | 99.67 | 71.67 | 1868 |
| HSA-MIR-519C-3P | 99.67 | 71.67 | 1870 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
Literature-anchored findings (GeneRIF, showing 14)
- Regulation of transcripton by this protein is mediated by complex formation with BRD7 (PMID:12489984)
- Variants in 2 genes were associated with early-onset myocardial infarct: VAMP8, which is involved in platelet degranulation, and HNRPUL1, which encodes a ribonuclear protein. (PMID:16690874)
- Taken together, these results define a role for E1B-AP5 in ATR signaling pathways activated during adenovirus infection. (PMID:18480432)
- E1B-AP5 is a novel surface molecule that is involved in the undifferentiated state of human embryonic stem cells (PMID:21083500)
- hnRNPUL1 and -2 function downstream of MRN and CtBP-interacting protein (CtIP) to promote recruitment of the BLM helicase to DNA breaks. (PMID:22365830)
- U7 snRNP represses histone gene transcription under cell cycle-arrested conditions. hnRNP UL1 is responsible for U7 snRNP-dependent transcriptional repression of replication-dependent histone genes. (PMID:22451911)
- hnRPUL1 as a new component related to PARP1 in DNA damage response and repair (PMID:23577092)
- Despite the limitations, hnRPUL1 and PARP1 were downregulated in renal cell carcinoma and connected with the prognosis. (PMID:24595077)
- we define the arginines within the RGG/RG motifs as the site of methylation by PRMT1 both in vitro and in vivo. The arginines within the human hnRNPUL1 RGG/RG motifs were substituted with lysines to generate hnRNPUL1(RK). (PMID:26020839)
- Genome-Wide Association Study for Alcohol-Related Cirrhosis Identifies Risk Loci in MARC1 and HNRNPUL1. (PMID:32561361)
- HNRNPUL1 inhibits cisplatin sensitivity of esophageal squamous cell carcinoma through regulating the formation of circMAN1A2. (PMID:34688610)
- RNA-binding protein hnRNP UL1 binds kappaB sites to attenuate NF-kappaB-mediated inflammation. (PMID:35429914)
- The Novel Role of hnRNP UL1 in Human Cell Nucleoli. (PMID:35982897)
- Human E1B-AP5 binds to adenovirus E1B-55kDa protein. (PMID:9733834)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Hnrnpul1 | ENSMUSG00000040725 |
| rattus_norvegicus | Hnrnpul1 | ENSRNOG00000020683 |
Paralogs (2): HNRNPU (ENSG00000153187), HNRNPUL2 (ENSG00000214753)
Protein
Protein identifiers
Heterogeneous nuclear ribonucleoprotein U-like protein 1 — Q9BUJ2 (reviewed: Q9BUJ2)
Alternative names: Adenovirus early region 1B-associated protein 5, E1B-55 kDa-associated protein 5
All UniProt accessions (13): Q9BUJ2, A0A087X1I2, A0A0A0MRA5, B7Z4B8, M0QYG9, M0QYI8, M0QYM5, M0QYZ0, M0QZV6, M0R0K8, M0R203, M0R247, M0R3F1
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a basic transcriptional regulator. Represses basic transcription driven by several virus and cellular promoters. When associated with BRD7, activates transcription of glucocorticoid-responsive promoter in the absence of ligand-stimulation. Also plays a role in mRNA processing and transport. Binds avidly to poly(G) and poly(C) RNA homopolymers in vitro.
Subunit / interactions. Interacts with the adenovirus type 5 (Ad5) E1B-55 kDa, BRD7, PRMT2, TP53 and NXF1. Associates with histones and BRD7.
Subcellular location. Nucleus.
Post-translational modifications. Methylated.
Domain organisation. The RGG-box domain is methylated.
Miscellaneous. Its methylation is enhanced in the late phase of adenoviral infection. May be due to intron retention.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BUJ2-1 | 1, Isoform a | yes |
| Q9BUJ2-2 | 2, Isoform b | |
| Q9BUJ2-3 | 3 | |
| Q9BUJ2-4 | 4 | |
| Q9BUJ2-5 | 5 |
RefSeq proteins (5): NP_001287945, NP_001308137, NP_001308140, NP_008971, NP_653333 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001870 | B30.2/SPRY | Domain |
| IPR003034 | SAP_dom | Domain |
| IPR003877 | SPRY_dom | Domain |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR035778 | SPRY_hnRNP_U | Domain |
| IPR036361 | SAP_dom_sf | Homologous_superfamily |
| IPR043136 | B30.2/SPRY_sf | Homologous_superfamily |
Pfam: PF00622, PF02037, PF13671
UniProt features (67 total): compositionally biased region 14, modified residue 11, cross-link 9, region of interest 7, splice variant 7, sequence conflict 7, repeat 5, helix 3, domain 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1ZRJ | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BUJ2-F1 | 66.66 | 0.41 |
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 (20): 194, 209, 512, 639, 645, 645, 656, 656, 661, 671, 718, 117, 117, 142, 142, 146, 162, 270, 449, 539
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9918481 | Dengue Virus-Host Interactions |
MSigDB gene sets: 241 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, E2F_Q4, AGGAAGC_MIR5163P, E2F4DP1_01, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, MORF_SNRP70, MORF_UBE2I, MORF_HDAC1, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, ATGCAGT_MIR217, MAYBURD_RESPONSE_TO_L663536_UP, MORF_TERF1, MORF_SKP1A, CATRRAGC_UNKNOWN, E2F1DP1_01
GO Biological Process (3): alternative mRNA splicing, via spliceosome (GO:0000380), RNA processing (GO:0006396), response to virus (GO:0009615)
GO Molecular Function (3): RNA binding (GO:0003723), enzyme binding (GO:0019899), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), synapse (GO:0045202), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Dengue Virus Infection | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mRNA splicing, via spliceosome | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| response to other organism | 1 |
| nucleic acid binding | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cell junction | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1642 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HNRNPUL1 | NXF1 | Q9UBU9 | 989 |
| HNRNPUL1 | NXT1 | Q9UKK6 | 895 |
| HNRNPUL1 | RAE1 | P78406 | 887 |
| HNRNPUL1 | BRCA1 | P38398 | 801 |
| HNRNPUL1 | NUTF2 | P13662 | 702 |
| HNRNPUL1 | HNRNPM | P52272 | 687 |
| HNRNPUL1 | NUP62 | P37198 | 686 |
| HNRNPUL1 | NUP98 | P52948 | 666 |
| HNRNPUL1 | NXT2 | Q9NPJ8 | 650 |
| HNRNPUL1 | NXF3 | Q9H4D5 | 648 |
| HNRNPUL1 | NUP153 | P49790 | 642 |
| HNRNPUL1 | HNRNPH1 | P31943 | 619 |
| HNRNPUL1 | RBMX | P38159 | 613 |
| HNRNPUL1 | NUP214 | P35658 | 593 |
| HNRNPUL1 | HNRNPC | P07910 | 591 |
| HNRNPUL1 | UIMC1 | Q96RL1 | 591 |
IntAct
277 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| WWP2 | HNRNPUL1 | psi-mi:“MI:0915”(physical association) | 0.870 |
| HNRNPUL1 | WWP2 | psi-mi:“MI:0915”(physical association) | 0.870 |
| YWHAB | PIK3C2A | psi-mi:“MI:0914”(association) | 0.800 |
| HNRNPUL1 | DZIP3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| DZIP3 | HNRNPUL1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| HNRNPUL1 | HNRNPF | psi-mi:“MI:0915”(physical association) | 0.740 |
| HNRNPUL1 | SF3B4 | psi-mi:“MI:0915”(physical association) | 0.740 |
| HNRNPF | HNRNPUL1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| SF3B4 | HNRNPUL1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ETV6 | LRP6 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| HNRNPUL1 | TP53 | psi-mi:“MI:0915”(physical association) | 0.700 |
| TP53 | HNRNPUL1 | psi-mi:“MI:0915”(physical association) | 0.700 |
BioGRID (473): HNRNPUL1 (Two-hybrid), HNRNPUL1 (Two-hybrid), HNRNPUL1 (Two-hybrid), HNRNPUL1 (Two-hybrid), HNRNPUL1 (Two-hybrid), HNRNPUL1 (Two-hybrid), HNRNPUL1 (Two-hybrid), HNRNPUL1 (Two-hybrid), ROPN1 (Two-hybrid), VPS37C (Two-hybrid), RBM4B (Two-hybrid), MAPK1IP1L (Two-hybrid), HNRNPUL1 (Affinity Capture-MS), HNRNPUL1 (Affinity Capture-MS), HNRNPUL1 (Affinity Capture-MS)
ESM2 similar proteins: A0A3B3IU46, A0JMU8, A1L1K8, A2RV70, O94432, P07733, P45978, P46553, P90897, Q09801, Q09911, Q14444, Q1LZB6, Q24669, Q28F29, Q28HC9, Q2HJG4, Q5CZI8, Q5JVS0, Q5M9G3, Q5R9Q6, Q5UR41, Q5ZMS6, Q60865, Q66HC1, Q6CVS3, Q6FJC7, Q6NRP6, Q6NRY1, Q6NYG6, Q6P0F4, Q6P1U3, Q75A59, Q8CGZ0, Q8IWX8, Q8TAP9, Q8VDM6, Q91W18, Q9BTL3, Q9BUJ2
Diamond homologs: Q00839, Q00PI9, Q1KMD3, Q55CP6, Q6IMY8, Q8VDM6, Q8VEK3, Q9BUJ2, Q9VNV3, A2VD92, P53076, Q0IIK5, Q19614, Q4R7L5, Q5NVJ8, Q5XH91, Q641Y8, Q90WU3, Q91VR5, Q92499, A0A5F9C6I2, A1L252, A3KMV8, B0LPN4, D3ZXK7, E9PZQ0, E9Q401, O94712, P11716, P16960, P21817, P30957, P69566, Q15413, Q1LUS8, Q24498, Q28FM1, Q5XPI3, Q6VN19, Q6VN20
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 179 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 |
|---|---|---|---|
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 37.0× | 8e-08 |
| Activation of BAD and translocation to mitochondria | 6 | 36.0× | 8e-07 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 6 | 31.7× | 2e-06 |
| Activation of BH3-only proteins | 8 | 31.3× | 6e-08 |
| Intrinsic Pathway for Apoptosis | 9 | 20.8× | 8e-08 |
| RHO GTPases activate PKNs | 6 | 15.0× | 1e-04 |
| Apoptosis | 10 | 13.2× | 4e-07 |
| FOXO-mediated transcription | 5 | 13.2× | 9e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of innate immune response | 6 | 19.1× | 2e-04 |
| intrinsic apoptotic signaling pathway | 7 | 15.7× | 1e-04 |
| autophagosome maturation | 6 | 13.2× | 9e-04 |
| protein targeting | 5 | 11.4× | 8e-03 |
| intracellular protein localization | 10 | 6.5× | 6e-04 |
| RNA splicing | 9 | 5.0× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
106 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 76 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2336 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:41264690:G:GT | donor_gain | 1.0000 |
| 19:41268220:A:AG | acceptor_gain | 1.0000 |
| 19:41268220:AAG:A | acceptor_loss | 1.0000 |
| 19:41268220:AAGAT:A | acceptor_gain | 1.0000 |
| 19:41268221:A:AG | acceptor_gain | 1.0000 |
| 19:41268221:AGA:A | acceptor_loss | 1.0000 |
| 19:41268221:AGAT:A | acceptor_gain | 1.0000 |
| 19:41268222:G:GA | acceptor_gain | 1.0000 |
| 19:41268222:GA:G | acceptor_gain | 1.0000 |
| 19:41268222:GAT:G | acceptor_gain | 1.0000 |
| 19:41268222:GATG:G | acceptor_gain | 1.0000 |
| 19:41268222:GATGC:G | acceptor_gain | 1.0000 |
| 19:41268342:CCAG:C | donor_loss | 1.0000 |
| 19:41268343:CAGGT:C | donor_loss | 1.0000 |
| 19:41268344:AGG:A | donor_loss | 1.0000 |
| 19:41268345:GGT:G | donor_loss | 1.0000 |
| 19:41268346:GTAGG:G | donor_loss | 1.0000 |
| 19:41268347:T:A | donor_loss | 1.0000 |
| 19:41272077:A:AG | acceptor_gain | 1.0000 |
| 19:41272182:GCCT:G | donor_gain | 1.0000 |
| 19:41274051:CACCT:C | donor_gain | 1.0000 |
| 19:41274052:ACCT:A | donor_gain | 1.0000 |
| 19:41274053:CCT:C | donor_gain | 1.0000 |
| 19:41274056:G:GG | donor_gain | 1.0000 |
| 19:41279075:A:AG | acceptor_gain | 1.0000 |
| 19:41279075:A:AT | acceptor_loss | 1.0000 |
| 19:41279076:G:A | acceptor_loss | 1.0000 |
| 19:41279076:G:GA | acceptor_gain | 1.0000 |
| 19:41279076:GAT:G | acceptor_gain | 1.0000 |
| 19:41279076:GATC:G | acceptor_gain | 1.0000 |
AlphaMissense
5616 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:41264520:T:C | L6P | 1.000 |
| 19:41264525:G:A | V8M | 1.000 |
| 19:41264535:T:A | L11H | 1.000 |
| 19:41264535:T:C | L11P | 1.000 |
| 19:41264537:C:A | R12S | 1.000 |
| 19:41264547:T:A | L15Q | 1.000 |
| 19:41264547:T:C | L15P | 1.000 |
| 19:41264556:G:C | R18P | 1.000 |
| 19:41264562:T:C | L20P | 1.000 |
| 19:41264573:G:C | G24R | 1.000 |
| 19:41264574:G:A | G24D | 1.000 |
| 19:41264581:G:C | K26N | 1.000 |
| 19:41264581:G:T | K26N | 1.000 |
| 19:41264589:T:A | L29H | 1.000 |
| 19:41264589:T:C | L29P | 1.000 |
| 19:41264598:G:C | R32P | 1.000 |
| 19:41264601:T:C | L33P | 1.000 |
| 19:41276168:A:T | D219V | 1.000 |
| 19:41276177:T:C | F222S | 1.000 |
| 19:41276203:G:C | G231R | 1.000 |
| 19:41276204:G:A | G231D | 1.000 |
| 19:41276210:C:A | P233Q | 1.000 |
| 19:41276210:C:G | P233R | 1.000 |
| 19:41276213:T:A | L234H | 1.000 |
| 19:41276213:T:C | L234P | 1.000 |
| 19:41276224:G:C | G238R | 1.000 |
| 19:41276225:G:A | G238D | 1.000 |
| 19:41276227:T:A | F239I | 1.000 |
| 19:41276227:T:C | F239L | 1.000 |
| 19:41276227:T:G | F239V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000072986 (19:41261862 C>A), RS1000089279 (19:41303213 C>T), RS1000104818 (19:41292943 C>G), RS1000124895 (19:41262078 T>C), RS1000157054 (19:41273903 A>G), RS1000225350 (19:41270677 C>T), RS1000254518 (19:41267505 C>T), RS1000331310 (19:41280002 C>A,G), RS1000365900 (19:41287368 A>G), RS1000376119 (19:41287086 G>A), RS1000423274 (19:41299515 G>A), RS1000440242 (19:41273570 G>A), RS1000492102 (19:41272299 T>G), RS1000544708 (19:41303427 C>G,T), RS1000576133 (19:41276967 G>A)
Disease associations
OMIM: gene MIM:605800 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006288_674 | Heel bone mineral density | 9.000000e-11 |
| GCST006288_74 | Heel bone mineral density | 4.000000e-10 |
| GCST008790_57 | Urinary albumin-to-creatinine ratio | 2.000000e-10 |
| GCST008794_10 | Urinary albumin-to-creatinine ratio | 2.000000e-10 |
| GCST008794_9 | Urinary albumin-to-creatinine ratio | 3.000000e-08 |
| GCST010241_355 | Apolipoprotein A1 levels | 4.000000e-11 |
| GCST010242_365 | HDL cholesterol levels | 2.000000e-10 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009270 | heel bone mineral density |
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724663 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs1056854 | HNRNPUL1 | 3 | 0.00 | 1 | glatiramer acetate |
ChEMBL bioactivities
5 potent at pChembl≥5 of 5 total, top 5 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.75 | IC50 | 180 | nM | MOLIBRESIB |
| 6.04 | Kd | 921.9 | nM | CHEMBL3752910 |
| 6.04 | ED50 | 921.9 | nM | CHEMBL3752910 |
| 5.59 | Kd | 2560 | nM | CHEMBL5653589 |
| 5.59 | ED50 | 2560 | nM | CHEMBL5653589 |
PubChem BioAssay actives
3 with measured affinity, of 10 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178569: Inhibition of HNRNPUL1 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 0.1800 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148539: Binding affinity to human HNRNPUL1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.9219 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148539: Binding affinity to human HNRNPUL1 incubated for 45 mins by Kinobead based pull down assay | kd | 2.5599 | uM |
CTD chemical–gene interactions
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation, increases expression | 3 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| deoxynivalenol | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| pyrrolidine dithiocarbamic acid | affects cotreatment, increases expression | 1 |
| bathocuproine sulfonate | affects cotreatment, increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| methacrylaldehyde | increases oxidation, increases abundance, affects cotreatment | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | decreases ADP-ribosylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| bisphenol B | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651581 | Binding | Binding affinity to human HNRNPUL1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
5 cell lines: 4 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_1374 | LC4-1 | Cancer cell line | Female |
| CVCL_1631 | P30/OHK | Cancer cell line | Female |
| CVCL_8486 | Kasumi-7 | Cancer cell line | Female |
| CVCL_8488 | Kasumi-9 | Cancer cell line | Male |
| CVCL_B2Z3 | Abcam HEK293T HNRNPUL1 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.