DAZAP1

Summary

DAZAP1 (DAZ associated protein 1, HGNC:2683) is a protein-coding gene on chromosome 19p13.3, encoding DAZ-associated protein 1 (Q96EP5). RNA-binding protein, which may be required during spermatogenesis. It is a selective cancer dependency (DepMap: 13.2% of cell lines).

In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene.

Source: NCBI Gene 26528 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 56 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 13.2% of screened cell lines
• MANE Select transcript: NM_018959

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2683
Approved symbol	DAZAP1
Name	DAZ associated protein 1
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC19907
Ensembl gene	ENSG00000071626
Ensembl biotype	protein_coding
OMIM	607430
Entrez	26528

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 29 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000233078, ENST00000336761, ENST00000585485, ENST00000586579, ENST00000587079, ENST00000587833, ENST00000589484, ENST00000589874, ENST00000590419, ENST00000592453, ENST00000592522, ENST00000875640, ENST00000875641, ENST00000875642, ENST00000875643, ENST00000875644, ENST00000875645, ENST00000875646, ENST00000875647, ENST00000875648, ENST00000875649, ENST00000875650, ENST00000875651, ENST00000875652, ENST00000918387, ENST00000918388, ENST00000918389, ENST00000918390, ENST00000918391, ENST00000918392, ENST00000918393, ENST00000918394, ENST00000918395, ENST00000918396, ENST00000959431

RefSeq mRNA: 5 — MANE Select: NM_018959 NM_001352033, NM_001352034, NM_001352035, NM_018959, NM_170711

CCDS: CCDS12065, CCDS12066, CCDS86684, CCDS86685

Canonical transcript exons

ENST00000233078 — 12 exons

Exon	Start	End
ENSE00000000082	1407586	1407802
ENSE00000752956	1425878	1425960
ENSE00002899837	1434737	1435684
ENSE00003465207	1417500	1417540
ENSE00003515294	1422348	1422396
ENSE00003525211	1429967	1429996
ENSE00003533522	1418666	1418731
ENSE00003549906	1421148	1421258
ENSE00003606367	1428842	1428995
ENSE00003613346	1430222	1430362
ENSE00003655273	1418204	1418370
ENSE00003786504	1432514	1432690

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 97.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.2999 / max 758.6153, expressed in 1824 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
172956	40.0624	1822
172957	3.6112	1458
172959	1.5512	947
172958	1.0437	680
172963	0.6241	324
208631	0.4073	196

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	97.32	gold quality
right testis	UBERON:0004534	97.23	gold quality
visceral pleura	UBERON:0002401	97.00	gold quality
lower esophagus mucosa	UBERON:0035834	96.99	gold quality
mucosa of transverse colon	UBERON:0004991	96.90	gold quality
germinal epithelium of ovary	UBERON:0001304	96.54	gold quality
esophagus mucosa	UBERON:0002469	96.42	gold quality
trabecular bone tissue	UBERON:0002483	96.40	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.36	gold quality
left ovary	UBERON:0002119	96.35	gold quality
granulocyte	CL:0000094	96.34	gold quality
right ovary	UBERON:0002118	96.34	gold quality
tibia	UBERON:0000979	96.26	gold quality
transverse colon	UBERON:0001157	96.26	gold quality
adult organism	UBERON:0007023	96.16	gold quality
tendon of biceps brachii	UBERON:0008188	96.15	gold quality
apex of heart	UBERON:0002098	96.14	gold quality
skin of abdomen	UBERON:0001416	96.09	gold quality
esophagus	UBERON:0001043	96.08	gold quality
sural nerve	UBERON:0015488	96.06	gold quality
amniotic fluid	UBERON:0000173	96.05	gold quality
parietal pleura	UBERON:0002400	95.98	gold quality
skin of leg	UBERON:0001511	95.96	gold quality
vagina	UBERON:0000996	95.92	gold quality
testis	UBERON:0000473	95.91	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.90	gold quality
right lobe of thyroid gland	UBERON:0001119	95.89	gold quality
lower esophagus	UBERON:0013473	95.87	gold quality
right atrium auricular region	UBERON:0006631	95.86	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.86	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.83

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MEF2D

miRNA regulators (miRDB)

63 targeting DAZAP1, 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-513B-5P	99.99	69.96	2150
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-561-3P	99.64	70.90	3647

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 13.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 15)

• data suggest that MEF2D/DAZAP1 and/or DAZAP1/MEF2D contribute to leukemogenesis by altering signaling pathways normally regulated by wild-type MEF2D and DAZAP1 (PMID:15744350)
• This study shows expression patterns of DAZAP1 in human corpus luteum cells and demonstrates the in vivo interaction of DAZ-like protein (DAZL) with DAZAP1. (PMID:16209998)
• DAZ cannot bind simultaneously to DAZAP1 and poly(A)-binding protein (PABP), and suggest that the phosphorylation-induced dissociation of DAZ and DAZAP1 may allow the former to stimulate translation by interacting with PABP. (PMID:16848763)
• The binding of the splicing factors hnRNPA1/A2 and DAZAP1 is the primary determinant of T6 BRCA1 exon 18 exclusion. (PMID:18391021)
• The results suggest that DAZAP1 is a component of complexes that are crucial for the degradation and silencing of mRNA. (PMID:19285026)
• DAZAP1 can regulate mRNA translation. (PMID:21576381)
• Data show that hnRNPA1/A2, HuR and DAZAP1 splicing factors and DHX36 RNA helicase bind to the ISE, with hnRNPA1 acting negatively and DAZAP1 positively on splicing selection (PMID:21858080)
• this study reports the mapping of a 42-amino acid segment (N42) at the N-terminus of DAZAP1 that is both necessary and sufficient for its transcription-dependent nuclear localization. (PMID:23111326)
• The splicing activator DAZAP1 integrates splicing control into MEK/Erk-regulated cell proliferation and migration. (PMID:24452013)
• Data indicate that DAZAP1 exerts a suppressive effect on cox6c pre-mRNA splicing and reduced DAZAP1 expression increases the COX6C protein level, leading to cell growth retardation. (PMID:29505834)
• Starvation-induced suppression of DAZAP1 by miR-10b integrates splicing control into TSC2-regulated oncogenic autophagy in esophageal squamous cell carcinoma. (PMID:32308763)
• RNA binding protein DAZAP1 promotes HCC progression and regulates ferroptosis by interacting with SLC7A11 mRNA. (PMID:33358859)
• DAZAP1 overexpression promotes growth of HCC cell lines: a primary study using CEUS. (PMID:35091997)
• DAZAP1 facilitates the alternative splicing of KITLG to promote multiple myeloma cell proliferation via ERK signaling pathway. (PMID:36242590)
• NEAT1_2 and DAZAP1, Paraspeckle Components, Interact with PXR to Negatively Regulate CYP3A4 Induction. (PMID:37349114)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dazap1	ENSDARG00000070846
mus_musculus	Dazap1	ENSMUSG00000069565
rattus_norvegicus	Dazap1	ENSRNOG00000031387
drosophila_melanogaster	Rbp4	FBGN0010258
caenorhabditis_elegans		WBGENE00001999

Paralogs (36): CIRBP (ENSG00000099622), RBM23 (ENSG00000100461), RBM3 (ENSG00000102317), NCL (ENSG00000115053), TIA1 (ENSG00000116001), HNRNPA2B1 (ENSG00000122566), RBM19 (ENSG00000122965), RBM39 (ENSG00000131051), MSI1 (ENSG00000135097), HNRNPA1 (ENSG00000135486), HNRNPD (ENSG00000138668), HNRNPA1L2 (ENSG00000139675), RBMX (ENSG00000147274), A1CF (ENSG00000148584), TIAL1 (ENSG00000151923), RBM46 (ENSG00000151962), HNRNPDL (ENSG00000152795), MSI2 (ENSG00000153944), RBM47 (ENSG00000163694), RBMY1F (ENSG00000169800), HNRNPA3 (ENSG00000170144), RBMXL2 (ENSG00000170748), RBM4B (ENSG00000173914), RBM4 (ENSG00000173933), RBMXL3 (ENSG00000175718), HNRNPA0 (ENSG00000177733), TRNAU1AP (ENSG00000180098), HNRNPAB (ENSG00000197451), RBMXL1 (ENSG00000213516), HNRNPA1L3 (ENSG00000224578), RBMY1J (ENSG00000226941), RBMY1A1 (ENSG00000234414), RBMY1E (ENSG00000242389), RBMY1B (ENSG00000242875), RBMY1D (ENSG00000244395), DND1 (ENSG00000256453)

Protein

Protein identifiers

DAZ-associated protein 1 — Q96EP5 (reviewed: Q96EP5)

Alternative names: Deleted in azoospermia-associated protein 1

All UniProt accessions (5): Q96EP5, A0A0S2Z569, K7EK33, K7EQ02, K7EQ55

UniProt curated annotations — full annotation on UniProt →

Function. RNA-binding protein, which may be required during spermatogenesis.

Subunit / interactions. Interacts with DAZ and DAZL.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Mainly expressed in testis. Expressed to a lower level in thymus. Weakly or not expressed in heart, liver, brain, placenta, lung, skeletal muscle, kidney and pancreas.

Post-translational modifications. Acetylation at Lys-150 is predominantly observed in the nuclear fraction, and may regulate nucleocytoplasmic transport.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96EP5-1	1	yes
Q96EP5-2	2

RefSeq proteins (5): NP_001338962, NP_001338963, NP_001338964, NP_061832, NP_733829 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034131	DAZAP1_RRM2	Domain
IPR034134	DAZAP1_RRM1	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily

Pfam: PF00076

UniProt features (36 total): strand 12, compositionally biased region 8, helix 4, modified residue 3, domain 2, region of interest 2, chain 1, splice variant 1, sequence variant 1, sequence conflict 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2DGS	SOLUTION NMR
2DH8	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96EP5-F1	65.53	0.22

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 (3): 1, 150, 253

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 179 (showing top): GOBP_POSITIVE_REGULATION_OF_RNA_SPLICING, GOBP_POSITIVE_REGULATION_OF_MRNA_PROCESSING, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GTTAAAG_MIR302B, TGACCTY_ERR1_Q2, GOBP_MALE_GAMETE_GENERATION, GGAMTNNNNNTCCY_UNKNOWN, USF_C, ATGTTAA_MIR302C, WEI_MYCN_TARGETS_WITH_E_BOX, MUELLER_PLURINET, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, MYCMAX_01, BLALOCK_ALZHEIMERS_DISEASE_UP

GO Biological Process (5): maternal placenta development (GO:0001893), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), positive regulation of mRNA splicing, via spliceosome (GO:0048026), fibroblast proliferation (GO:0048144)

GO Molecular Function (7): RNA binding (GO:0003723), mRNA 3’-UTR binding (GO:0003730), poly(U) RNA binding (GO:0008266), poly(G) binding (GO:0034046), RNA stem-loop binding (GO:0035613), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (7): male germ cell nucleus (GO:0001673), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), protein-containing complex (GO:0032991), ribonucleoprotein complex (GO:1990904), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
developmental process involved in reproduction	2
binding	2
placenta development	1
anatomical structure development	1
maternal process involved in female pregnancy	1
male gamete generation	1
cellular developmental process	1
mRNA splicing, via spliceosome	1
positive regulation of RNA splicing	1
regulation of mRNA splicing, via spliceosome	1
positive regulation of mRNA processing	1
cell population proliferation	1
nucleic acid binding	1
mRNA binding	1
poly-pyrimidine tract binding	1
poly-purine tract binding	1
RNA binding	1
germ cell nucleus	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
cellular_component	1
protein-containing complex	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1760 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DAZAP1	DAZAP2	Q15038	938
DAZAP1	DAZ1	Q9NQZ3	927
DAZAP1	DAZL	Q92904	717
DAZAP1	DDX4	Q9NQI0	592
DAZAP1	SRSF1	Q07955	577
DAZAP1	HNRNPC	P07910	567
DAZAP1	RCAN3	Q9UKA8	543
DAZAP1	SRSF7	Q16629	540
DAZAP1	MEF2D	Q14814	510
DAZAP1	HNRNPA1	P09651	502
DAZAP1	HNRNPH1	P31943	488
DAZAP1	DAZ2	Q13117	488
DAZAP1	SRSF2	Q01130	483
DAZAP1	CRISP2	P16562	475
DAZAP1	SOX2	P48431	449

IntAct

105 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
SNRPA	DAZAP1	psi-mi:“MI:0915”(physical association)	0.560
DAZ1	DAZAP1	psi-mi:“MI:0915”(physical association)	0.510
DAZAP1	DAZ1	psi-mi:“MI:0915”(physical association)	0.510
BMP2K	DAZAP1	psi-mi:“MI:0915”(physical association)	0.490
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
GPR171	DAZAP1	psi-mi:“MI:0915”(physical association)	0.400
DAZAP1	DAZL	psi-mi:“MI:0915”(physical association)	0.400
	DAZAP1	psi-mi:“MI:0915”(physical association)	0.400
JUN		psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
PDHA1		psi-mi:“MI:0914”(association)	0.350
DND1	RPSA2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
CUL1	LGALS8	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
CUL2	ANXA2P2	psi-mi:“MI:0914”(association)	0.350

BioGRID (213): DAZAP1 (Affinity Capture-MS), DAZAP1 (Affinity Capture-MS), DAZAP1 (Affinity Capture-MS), DAZAP1 (Affinity Capture-MS), DAZAP1 (Affinity Capture-MS), DAZAP1 (Affinity Capture-MS), AASDHPPT (Co-fractionation), ADK (Co-fractionation), AKR1A1 (Co-fractionation), ARF4 (Co-fractionation), ARF5 (Co-fractionation), ASS1 (Co-fractionation), ATOX1 (Co-fractionation), CARHSP1 (Co-fractionation), CFL1 (Co-fractionation)

ESM2 similar proteins: A0A0D1C8Z4, A5A6H4, A7VJC2, O88569, P04256, P07909, P09651, P09867, P17130, P19198, P21522, P22626, P35637, P48810, P49312, P51968, P51989, P51990, P51991, P51992, P56959, Q01844, Q08473, Q13151, Q22037, Q28009, Q28521, Q2HJ60, Q32P51, Q43472, Q5PQ53, Q5RBU8, Q61545, Q640A2, Q641Z8, Q6DC93, Q6URK4, Q7ZX83, Q8BG05, Q8EA81

Diamond homologs: A0A0A0LLY1, A0A0D1C8Z4, A5A6M3, C0HFE5, D3Z4I3, D4AE41, M0R7T6, O22703, O35698, O75526, O89086, O93235, P04147, P0C8Z4, P10979, P19682, P19683, P19684, P28644, P38159, P39697, P48809, P49310, P49311, P49313, P49314, P60824, P60825, P60826, P84586, P98179, Q03250, Q03251, Q03878, Q04836, Q05966, Q08473, Q08935, Q08937, Q14011

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
MAPK1	“down-regulates activity”	DAZAP1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 87 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
Neddylation	9	7.9×	7e-04

GO biological processes:

GO term	Partners	Fold	FDR
mitophagy	6	23.9×	6e-05
intrinsic apoptotic signaling pathway	5	22.4×	5e-04
autophagosome maturation	5	21.9×	5e-04
autophagosome assembly	5	14.0×	3e-03
G1/S transition of mitotic cell cycle	5	12.5×	5e-03

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	31
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2704 predictions. Top by Δscore:

Variant	Effect	Δscore
19:1418190:C:A	acceptor_gain	1.0000
19:1418366:GAAAC:G	donor_gain	1.0000
19:1418371:G:GG	donor_gain	1.0000
19:1418723:G:GT	donor_gain	1.0000
19:1421146:A:AG	acceptor_gain	1.0000
19:1421147:G:GG	acceptor_gain	1.0000
19:1421147:GCA:G	acceptor_gain	1.0000
19:1421147:GCAGA:G	acceptor_gain	1.0000
19:1421256:GTG:G	donor_gain	1.0000
19:1428837:TTTAG:T	acceptor_loss	1.0000
19:1428839:TAG:T	acceptor_loss	1.0000
19:1428841:G:GT	acceptor_loss	1.0000
19:1428994:AGGTA:A	donor_loss	1.0000
19:1428995:GGT:G	donor_loss	1.0000
19:1430358:GTTCA:G	donor_gain	1.0000
19:1430363:G:GG	donor_gain	1.0000
19:1417537:CAAG:C	donor_loss	0.9900
19:1417542:T:G	donor_loss	0.9900
19:1418197:T:A	acceptor_gain	0.9900
19:1418370:CG:C	donor_loss	0.9900
19:1418371:GT:G	donor_loss	0.9900
19:1418372:T:TC	donor_loss	0.9900
19:1418373:AA:A	donor_loss	0.9900
19:1418724:A:T	donor_gain	0.9900
19:1418727:GA:G	donor_gain	0.9900
19:1421144:A:G	acceptor_gain	0.9900
19:1421144:ACAG:A	acceptor_loss	0.9900
19:1421145:CA:C	acceptor_loss	0.9900
19:1421146:A:AC	acceptor_loss	0.9900
19:1421147:GC:G	acceptor_gain	0.9900

AlphaMissense

2647 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:1417503:G:C	K11N	1.000
19:1417503:G:T	K11N	1.000
19:1417505:T:A	L12H	1.000
19:1417505:T:C	L12P	1.000
19:1417507:T:A	F13I	1.000
19:1417507:T:C	F13L	1.000
19:1417507:T:G	F13V	1.000
19:1417508:T:C	F13S	1.000
19:1417508:T:G	F13C	1.000
19:1417509:C:A	F13L	1.000
19:1417509:C:G	F13L	1.000
19:1417510:G:A	V14M	1.000
19:1417511:T:A	V14E	1.000
19:1417513:G:A	G15S	1.000
19:1417513:G:C	G15R	1.000
19:1417513:G:T	G15C	1.000
19:1417514:G:A	G15D	1.000
19:1417514:G:T	G15V	1.000
19:1417516:G:C	G16R	1.000
19:1417516:G:T	G16C	1.000
19:1417517:G:A	G16D	1.000
19:1417517:G:T	G16V	1.000
19:1417519:C:T	L17F	1.000
19:1417520:T:A	L17H	1.000
19:1417520:T:C	L17P	1.000
19:1417520:T:G	L17R	1.000
19:1418210:T:A	L26Q	1.000
19:1418210:T:C	L26P	1.000
19:1418210:T:G	L26R	1.000
19:1418221:T:A	F30I	1.000

dbSNP variants (sampled 300 via entrez): RS1000129640 (19:1417871 T>C), RS1000207959 (19:1420513 T>C,G), RS1000239447 (19:1431439 AT>A,ATT), RS1000261758 (19:1424834 A>G,T), RS1000302482 (19:1413112 C>G), RS1000359887 (19:1408996 C>G,T), RS1000430624 (19:1427038 A>G), RS1000497073 (19:1426508 A>G), RS1000571748 (19:1430547 G>A,C,T), RS1000647574 (19:1430808 C>T), RS1000717836 (19:1430898 T>G), RS1000778181 (19:1426156 G>A), RS1000909365 (19:1412132 C>G,T), RS1000916123 (19:1421689 G>A,T), RS1001083828 (19:1434194 C>T)

Disease associations

OMIM: gene MIM:607430 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002060_9	Word reading	6.000000e-06
GCST002062_1	Reading and spelling	1.000000e-06
GCST006626_32	Pulse pressure	4.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005300	word reading
EFO:0005301	reading and spelling ability
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066404 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.72	Kd	19.17	nM	CHEMBL5653589
7.58	ED50	26.45	nM	CHEMBL5653589
7.04	Kd	90.17	nM	CHEMBL3752910
6.91	ED50	124.4	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148194: Binding affinity to human DAZAP1 incubated for 45 mins by Kinobead based pull down assay	kd	0.0192	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148194: Binding affinity to human DAZAP1 incubated for 45 mins by Kinobead based pull down assay	kd	0.0902	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	increases expression, affects cotreatment	3
bisphenol A	increases methylation, decreases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
(+)-JQ1 compound	decreases expression	2
lead acetate	increases expression	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
beta-lapachone	decreases expression, increases expression	1
sodium arsenite	increases expression	1
1-hydroxypyrene	decreases expression	1
pentanal	decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
bisphenol S	increases methylation	1
LDN 193189	affects cotreatment, decreases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Air Pollutants, Occupational	decreases expression	1
Antimony	increases expression	1
Antimony Potassium Tartrate	increases expression	1
Arsenic	affects methylation	1
Vehicle Emissions	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Benztropine	affects cotreatment, increases expression	1
Caffeine	decreases phosphorylation	1
Cuprizone	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651236	Binding	Binding affinity to human DAZAP1 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

3 cell lines: 2 transformed cell line, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A323	TS-2	Cancer cell line	Female
CVCL_B2VM	Abcam HEK293T DAZAP1 KO 1	Transformed cell line	Female
CVCL_B2VN	Abcam HEK293T DAZAP1 KO 2	Transformed cell line	Female

Clinical trials (associated diseases)

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