ASPDH

Summary

ASPDH (aspartate dehydrogenase domain containing, HGNC:33856) is a protein-coding gene on chromosome 19q13.33, encoding Aspartate dehydrogenase domain-containing protein (A6ND91).

Predicted to enable NADP binding activity and aspartate dehydrogenase activity. Predicted to be involved in NAD biosynthetic process.

Source: NCBI Gene 554235 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 59 total
• MANE Select transcript: NM_001114598

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33856
Approved symbol	ASPDH
Name	aspartate dehydrogenase domain containing
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000204653
Ensembl biotype	protein_coding
Entrez	554235

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000376916, ENST00000389208, ENST00000593569, ENST00000597030, ENST00000597232, ENST00000598657, ENST00000601207, ENST00000601287, ENST00000884260, ENST00000884261, ENST00000884262, ENST00000884263, ENST00000884264, ENST00000884265

RefSeq mRNA: 2 — MANE Select: NM_001114598 NM_001024656, NM_001114598

CCDS: CCDS33082, CCDS46153

Canonical transcript exons

ENST00000389208 — 7 exons

Exon	Start	End
ENSE00001472105	50512136	50512290
ENSE00001505179	50512661	50512810
ENSE00001505180	50513272	50513416
ENSE00001505181	50513772	50513913
ENSE00003575387	50511603	50511773
ENSE00003579905	50512360	50512580
ENSE00003648776	50512927	50513011

Expression profiles

Bgee: expression breadth ubiquitous, 177 present calls, max score 97.05.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.1265 / max 151.3254, expressed in 152 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182227	1.6462	117
182226	0.4803	52

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	97.05	gold quality
right lobe of liver	UBERON:0001114	96.46	gold quality
anterior cingulate cortex	UBERON:0009835	94.46	gold quality
prefrontal cortex	UBERON:0000451	94.36	gold quality
right frontal lobe	UBERON:0002810	94.28	gold quality
putamen	UBERON:0001874	94.24	gold quality
kidney epithelium	UBERON:0004819	94.10	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.84	gold quality
nucleus accumbens	UBERON:0001882	93.30	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.26	gold quality
caudate nucleus	UBERON:0001873	92.51	gold quality
cerebellar cortex	UBERON:0002129	92.34	gold quality
cerebellar hemisphere	UBERON:0002245	92.32	gold quality
amygdala	UBERON:0001876	91.80	gold quality
vena cava	UBERON:0004087	91.61	silver quality
cerebellum	UBERON:0002037	91.29	gold quality
hypothalamus	UBERON:0001898	91.24	gold quality
liver	UBERON:0002107	91.22	gold quality
frontal cortex	UBERON:0001870	90.97	gold quality
cerebellar vermis	UBERON:0004720	90.85	gold quality
neocortex	UBERON:0001950	90.65	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	90.60	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	89.84	gold quality
substantia nigra	UBERON:0002038	89.40	gold quality
forebrain	UBERON:0001890	89.23	gold quality
brain	UBERON:0000955	89.18	gold quality
spinal cord	UBERON:0002240	89.02	gold quality
pituitary gland	UBERON:0000007	88.75	gold quality
midbrain	UBERON:0001891	88.71	gold quality
cerebral cortex	UBERON:0000956	88.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.19

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting ASPDH, 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-6780B-5P	99.96	69.60	2562
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-876-3P	98.76	68.23	945
HSA-MIR-5702	96.68	68.21	958

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	aspdh	ENSDARG00000038297
mus_musculus	Aspdh	ENSMUSG00000038704
rattus_norvegicus	Aspdh	ENSRNOG00000019424
caenorhabditis_elegans		WBGENE00185014

Protein

Protein identifiers

Aspartate dehydrogenase domain-containing protein — A6ND91 (reviewed: A6ND91)

All UniProt accessions (3): A6ND91, M0QYD4, M0QZ80

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the L-aspartate dehydrogenase family.

Isoforms (2)

UniProt ID	Names	Canonical?
A6ND91-1	1	yes
A6ND91-2	2

RefSeq proteins (2): NP_001019827, NP_001108070* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002811	Asp_DH	Domain
IPR005106	Asp/hSer_DH_NAD-bd	Domain
IPR011182	L-Asp_DH	Family
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily

Pfam: PF01958, PF03447

UniProt features (6 total): modified residue 2, splice variant 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6ND91-F1	93.88	0.85

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 (2): 20, 168

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 48 (showing top): GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_NADPLUS_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH2_GROUP_OF_DONORS, GOMF_NADP_BINDING, GOMF_ADENYL_NUCLEOTIDE_BINDING, MIKKELSEN_MCV6_LCP_WITH_H3K4ME3, MIKKELSEN_IPS_LCP_WITH_H3K4ME3, MIKKELSEN_ES_LCP_WITH_H3K4ME3, OHGUCHI_LIVER_HNF4A_TARGETS_DN, GOBP_PYRIDINE_CONTAINING_COMPOUND_METABOLIC_PROCESS

GO Biological Process (1): NAD+ biosynthetic process (GO:0009435)

GO Molecular Function (3): L-aspartate dehydrogenase [NAD(P)+] activity (GO:0033735), NADP binding (GO:0050661), oxidoreductase activity (GO:0016491)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
purine nucleotide biosynthetic process	1
nicotinamide nucleotide biosynthetic process	1
NAD+ metabolic process	1
amino-acid dehydrogenase [NAD(P)+] activity	1
adenyl nucleotide binding	1
catalytic activity	1

Protein interactions and networks

STRING

338 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASPDH	TSPAN4	O14817	488
ASPDH	JPT2	Q9H910	475
ASPDH	DPP10	Q8N608	433
ASPDH	NRSN2	Q9GZP1	429
ASPDH	CYB561D1	Q8N8Q1	388
ASPDH	PPM1K	Q8N3J5	366
ASPDH	POLL	Q9UGP5	364
ASPDH	PRKN	O60260	359
ASPDH	GLS2	Q9UI32	353
ASPDH	AGXT	P21549	350
ASPDH	ADM2	Q7Z4H4	346
ASPDH	HAO1	Q9UJM8	343
ASPDH	ACY1	Q03154	336
ASPDH	SLC2A3	P11169	316
ASPDH	SORCS1	Q8WY21	315

IntAct

5 interactions, top by confidence:

A	B	Type	Score
CFTR	ASPDH	psi-mi:“MI:0915”(physical association)	0.370
JUN		psi-mi:“MI:0914”(association)	0.350
ASPDH	IGHG4	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): TPM2 (Affinity Capture-MS), SPATC1L (Affinity Capture-MS), ASPDH (Co-fractionation), ASPDH (Co-fractionation), ASPDH (Co-fractionation), CORO1A (Co-fractionation), CORO1B (Co-fractionation), GALK2 (Co-fractionation), UBE2N (Co-fractionation), TPM2 (Affinity Capture-MS), CPNE7 (Affinity Capture-MS), IGHG4 (Affinity Capture-MS), GGT7 (Affinity Capture-MS), ASPDH (PCA), ASPDH (Co-fractionation)

ESM2 similar proteins: A0PR19, A0QVI7, A1T2N5, A1TRP8, A1TXB6, A1W9B0, A2CCB6, A4T0R6, A5GIK5, A5GMB9, A5GW48, A6ND91, A6SWZ4, A8M4E3, A8M6W7, B1G889, B1VRH6, B2HGH0, B2U764, B3R8S4, C1B2W9, C5BAU7, E1CG36, P27726, Q0ID96, Q0K391, Q0S258, Q126F5, Q1GF45, Q2SNC4, Q3AMW4, Q3AUM3, Q5FW48, Q5I0J9, Q605I0, Q60B71, Q66I59, Q67Q55, Q73VS8, Q7U807

Diamond homologs: A6ND91, Q5FW48, Q5I0J9, Q66I59, Q9DCQ2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

603 predictions. Top by Δscore:

Variant	Effect	Δscore
19:50512579:CT:C	acceptor_gain	1.0000
19:50512674:G:C	donor_gain	1.0000
19:50512687:T:A	donor_gain	1.0000
19:50512806:CCCAC:C	acceptor_gain	1.0000
19:50512807:CCAC:C	acceptor_gain	1.0000
19:50512807:CCACC:C	acceptor_gain	1.0000
19:50512808:CACC:C	acceptor_gain	1.0000
19:50512810:CCTGG:C	acceptor_loss	1.0000
19:50512811:C:CA	acceptor_loss	1.0000
19:50512816:G:GC	acceptor_gain	1.0000
19:50512820:A:C	acceptor_gain	1.0000
19:50512576:AGGCT:A	acceptor_gain	0.9900
19:50512577:GGCT:G	acceptor_gain	0.9900
19:50512577:GGCTC:G	acceptor_loss	0.9900
19:50512578:GCTC:G	acceptor_loss	0.9900
19:50512581:C:CC	acceptor_gain	0.9900
19:50512581:CTGGA:C	acceptor_loss	0.9900
19:50512582:T:C	acceptor_loss	0.9900
19:50512655:CCTCA:C	donor_loss	0.9900
19:50512656:CTCAC:C	donor_loss	0.9900
19:50512657:TCA:T	donor_loss	0.9900
19:50512658:C:CG	donor_loss	0.9900
19:50512659:A:AC	donor_gain	0.9900
19:50512659:A:AT	donor_loss	0.9900
19:50512659:AC:A	donor_gain	0.9900
19:50512660:C:CC	donor_gain	0.9900
19:50512660:C:CG	donor_loss	0.9900
19:50512660:CC:C	donor_gain	0.9900
19:50512680:T:TA	donor_gain	0.9900
19:50512684:ATCT:A	donor_gain	0.9900

AlphaMissense

1804 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:50513353:A:T	V39D	0.983
19:50512708:A:G	W129R	0.980
19:50512708:A:T	W129R	0.980
19:50512437:G:C	N192K	0.978
19:50512437:G:T	N192K	0.978
19:50512997:A:T	V71D	0.978
19:50513355:A:C	F38L	0.978
19:50513355:A:T	F38L	0.978
19:50513357:A:G	F38L	0.978
19:50512423:G:T	A197D	0.975
19:50512570:A:T	V148D	0.973
19:50512474:A:T	V180D	0.972
19:50512382:C:A	G211W	0.971
19:50512696:C:G	D133H	0.971
19:50513786:C:T	G13D	0.971
19:50512143:G:C	S267R	0.969
19:50512143:G:T	S267R	0.969
19:50512145:T:G	S267R	0.969
19:50513772:C:G	G18R	0.967
19:50513772:C:T	G18R	0.967
19:50512420:G:T	A198D	0.966
19:50512986:C:G	A75P	0.966
19:50512152:G:C	F264L	0.965
19:50512152:G:T	F264L	0.965
19:50512154:A:G	F264L	0.965
19:50513416:C:A	G18V	0.965
19:50512200:G:C	N248K	0.963
19:50512200:G:T	N248K	0.963
19:50512206:T:A	R246S	0.963
19:50512206:T:G	R246S	0.963

dbSNP variants (sampled 300 via entrez): RS1000767299 (19:50512896 G>A), RS1001688377 (19:50514533 T>A), RS1002035677 (19:50516459 A>G), RS1003097628 (19:50515521 C>T), RS1003570295 (19:50516573 C>A,T), RS1003701649 (19:50512041 A>C), RS1004077313 (19:50514944 C>T), RS1004551702 (19:50515048 G>A), RS1005152703 (19:50514274 G>A), RS1005593723 (19:50514481 G>A,C), RS1005649633 (19:50512069 A>C,G,T), RS1006570547 (19:50513043 G>A), RS1006648870 (19:50511119 C>A,T), RS1006662232 (19:50513951 C>A,T), RS1006999602 (19:50513754 G>A,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	3
lasiocarpine	decreases expression	1
methyleugenol	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Rosiglitazone	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Cisplatin	decreases expression	1
Ivermectin	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	decreases expression	1
S-Nitrosoglutathione	increases expression	1

Clinical trials (associated diseases)

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