AFMID

Summary

AFMID (arylformamidase, HGNC:20910) is a protein-coding gene on chromosome 17q25.3, encoding Kynurenine formamidase (Q63HM1). Catalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the kynurenine pathway of tryptophan degradation.

Predicted to enable arylformamidase activity. Predicted to be involved in obsolete L-tryptophan catabolic process to L-kynurenine. Predicted to be located in cytosol and nucleus. Predicted to be active in cytoplasm.

Source: NCBI Gene 125061 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 71 total
• GTEx eGene: eQTL in 28 tissues, sQTL in 33 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.02 (unconstrained)
• MANE Select transcript: NM_001010982
• Notable: 71 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20910
Approved symbol	AFMID
Name	arylformamidase
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp686F03259, KF
Ensembl gene	ENSG00000183077
Ensembl biotype	protein_coding
OMIM	621151
Entrez	125061

Gene structure

Transcript identifiers

Ensembl transcripts: 69 — 45 protein_coding, 19 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined, 1 retained_intron

MANE Select: ENST00000409257

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 3, TSL 3: 4, TSL 4: 3, TSL 5: 2

ENST00000409257, ENST00000327898, ENST00000585419, ENST00000586542, ENST00000586731, ENST00000587750, ENST00000588199, ENST00000588800, ENST00000589107, ENST00000589256, ENST00000589664, ENST00000591256, ENST00000591538, ENST00000591952, ENST00000592988, ENST00000857463, ENST00000857464, ENST00000857465, ENST00000857466, ENST00000857467, ENST00000857468, ENST00000857469, ENST00000857470, ENST00000857471, ENST00000857472, ENST00000857473, ENST00000857474, ENST00000857475, ENST00000857476, ENST00000857477, ENST00000857478, ENST00000857479, ENST00000857480, ENST00000857481, ENST00000857482, ENST00000857483, ENST00000857484, ENST00000857485, ENST00000912342, ENST00000965675, ENST00001002303, ENST00001002304, ENST00001002305, ENST00001002306, ENST00001002307, ENST00001002308, ENST00001002309, ENST00001002310, ENST00001002311, ENST00001002312, ENST00001002313, ENST00001002314, ENST00001002315, ENST00001002316, ENST00001002317, ENST00001002318, ENST00001002319, ENST00001002320, ENST00001002321, ENST00001002322, ENST00001002323, ENST00001054492, ENST00001072490, ENST00001072491, ENST00001099087, ENST00001112250, ENST00001116730, ENST00001130831, ENST00001142250

RefSeq mRNA: 11 — MANE Select: NM_001010982 NM_001010982, NM_001145526, NM_001391999, NM_001392000, NM_001392001, NM_001392002, NM_001392003, NM_001392004, NM_001392005, NM_001392006, NM_001392007

CCDS: CCDS32750, CCDS45801

Canonical transcript exons

ENST00000409257 — 11 exons

Exon	Start	End
ENSE00001308714	78205093	78205190
ENSE00003481853	78205603	78205738
ENSE00003534056	78190970	78191060
ENSE00003551118	78202703	78202751
ENSE00003563869	78205440	78205518
ENSE00003608456	78204656	78204741
ENSE00003617529	78204828	78204900
ENSE00003628037	78202499	78202603
ENSE00003660990	78205946	78206050
ENSE00003668375	78187362	78187433
ENSE00003923340	78206911	78207702

Expression profiles

Bgee: expression breadth ubiquitous, 172 present calls, max score 98.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.1466 / max 419.0843, expressed in 1807 samples.

Highest expression (Bgee): lobe of liver, metanephros cortex, body of pancreas, C1 segment of cervical spinal cord, cerebellar hemisphere.

Genetic regulation across tissues (GTEx eQTL / sQTL)

AFMID is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 28 tissues and its splicing (sQTL) in 33 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 61 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Muscle Skeletal	eqtl	2.3e-26	+0.55	17:78173989:GA:G
Skin Not Sun Exposed Suprapubic	sqtl	3.4e-20	+1.05	17:78204884:C:T
Cells Cultured fibroblasts	sqtl	4.2e-18	+1.10	17:78204884:C:T
Cells EBV-transformed lymphocytes	sqtl	6.4e-17	-1.46	17:78204884:C:T
Skin Sun Exposed Lower leg	sqtl	8.3e-16	+0.85	17:78204884:C:T
Pancreas	sqtl	2.9e-15	+1.01	17:78204884:C:T
Esophagus Mucosa	sqtl	2.3e-12	+0.90	17:78202449:T:G
Thyroid	sqtl	5.0e-11	+0.72	17:78203295:A:C
Colon Transverse	sqtl	2.2e-10	+0.93	17:78204884:C:T
Lung	sqtl	1.9e-09	+0.77	17:78204884:C:T
Whole Blood	eqtl	5.7e-09	+0.48	17:78172776:G:T
Liver	sqtl	1.0e-08	+0.85	17:78203295:A:C
Esophagus Gastroesophageal Junction	sqtl	2.6e-08	+1.06	17:78204884:C:T
Brain Cerebellar Hemisphere	eqtl	4.5e-08	-2.02	17:78161012:G:A
Brain Cerebellar Hemisphere	sqtl	7.2e-08	-0.74	17:78202506:A:G
Brain Cerebellum	sqtl	1.3e-07	-0.80	17:78202506:A:G
Adipose Subcutaneous	sqtl	1.8e-07	+0.70	17:78203295:A:C
Esophagus Muscularis	sqtl	1.9e-07	+0.87	17:78204884:C:T
Nerve Tibial	sqtl	2.6e-07	-0.73	17:78203295:A:C
Adipose Visceral Omentum	sqtl	4.5e-07	+0.76	17:78202449:T:G

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
163042	36.6022	1807
163041	0.5444	291

Top tissues by expression

showing 100 of 252 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.65	gold quality
metanephros cortex	UBERON:0010533	98.62	gold quality
body of pancreas	UBERON:0001150	97.12	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.88	gold quality
cerebellar hemisphere	UBERON:0002245	95.89	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.82	gold quality
right uterine tube	UBERON:0001302	95.77	gold quality
cerebellar cortex	UBERON:0002129	95.74	gold quality
right lung	UBERON:0002167	93.63	gold quality
cerebellum	UBERON:0002037	93.49	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.48	gold quality
skin of abdomen	UBERON:0001416	93.38	gold quality
right ovary	UBERON:0002118	93.18	gold quality
spinal cord	UBERON:0002240	93.12	gold quality
left ovary	UBERON:0002119	93.01	gold quality
minor salivary gland	UBERON:0001830	92.83	gold quality
right frontal lobe	UBERON:0002810	92.50	gold quality
apex of heart	UBERON:0002098	92.43	gold quality
upper lobe of left lung	UBERON:0008952	92.10	gold quality
gall bladder	UBERON:0002110	91.94	gold quality
skin of leg	UBERON:0001511	91.89	gold quality
prefrontal cortex	UBERON:0000451	91.76	gold quality
body of stomach	UBERON:0001161	91.75	gold quality
pancreas	UBERON:0001264	91.68	gold quality
adult mammalian kidney	UBERON:0000082	91.52	gold quality
rectum	UBERON:0001052	90.83	gold quality
right atrium auricular region	UBERON:0006631	90.65	gold quality
mucosa of transverse colon	UBERON:0004991	90.52	gold quality
anterior cingulate cortex	UBERON:0009835	90.29	gold quality
cortex of kidney	UBERON:0001225	90.16	gold quality
tibial nerve	UBERON:0001323	89.90	gold quality
endocervix	UBERON:0000458	89.88	gold quality
small intestine Peyer’s patch	UBERON:0003454	89.81	gold quality
hypothalamus	UBERON:0001898	89.75	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.74	gold quality
stomach	UBERON:0000945	89.50	gold quality
right lobe of thyroid gland	UBERON:0001119	89.44	gold quality
amygdala	UBERON:0001876	89.38	gold quality
stromal cell of endometrium	CL:0002255	89.26	gold quality
smooth muscle tissue	UBERON:0001135	89.23	gold quality
putamen	UBERON:0001874	89.22	gold quality
right coronary artery	UBERON:0001625	89.12	gold quality
descending thoracic aorta	UBERON:0002345	89.02	gold quality
ectocervix	UBERON:0012249	88.86	gold quality
cardiac atrium	UBERON:0002081	88.76	gold quality
transverse colon	UBERON:0001157	88.72	gold quality
monocyte	CL:0000576	88.67	gold quality
esophagus mucosa	UBERON:0002469	88.56	gold quality
left coronary artery	UBERON:0001626	88.54	gold quality
heart left ventricle	UBERON:0002084	88.47	gold quality
lower esophagus	UBERON:0013473	88.39	gold quality
lower esophagus muscularis layer	UBERON:0035833	88.38	gold quality
esophagus	UBERON:0001043	88.31	gold quality
upper lobe of lung	UBERON:0008948	88.22	gold quality
saliva-secreting gland	UBERON:0001044	88.21	gold quality
left lobe of thyroid gland	UBERON:0001120	88.17	gold quality
ascending aorta	UBERON:0001496	88.14	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.14	gold quality
thoracic aorta	UBERON:0001515	88.13	gold quality
leukocyte	CL:0000738	88.05	gold quality
mucosa of stomach	UBERON:0001199	88.00	gold quality
body of uterus	UBERON:0009853	87.97	gold quality
lower esophagus mucosa	UBERON:0035834	87.80	gold quality
zone of skin	UBERON:0000014	87.73	gold quality
cardiac ventricle	UBERON:0002082	87.46	gold quality
mouth mucosa	UBERON:0003729	87.41	gold quality
ventricular zone	UBERON:0003053	87.40	gold quality
omental fat pad	UBERON:0010414	87.39	gold quality
caudate nucleus	UBERON:0001873	87.35	gold quality
peritoneum	UBERON:0002358	87.31	gold quality
left uterine tube	UBERON:0001303	87.21	gold quality
small intestine	UBERON:0002108	87.11	gold quality
spleen	UBERON:0002106	87.08	gold quality
heart	UBERON:0000948	87.06	gold quality
thyroid gland	UBERON:0002046	87.02	gold quality
ganglionic eminence	UBERON:0004023	86.79	gold quality
coronary artery	UBERON:0001621	86.74	gold quality
vermiform appendix	UBERON:0001154	86.50	gold quality
colonic epithelium	UBERON:0000397	86.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	86.37	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	86.33	gold quality
liver	UBERON:0002107	86.04	gold quality
substantia nigra	UBERON:0002038	85.99	gold quality
prostate gland	UBERON:0002367	85.68	gold quality
aorta	UBERON:0000947	85.67	gold quality
islet of Langerhans	UBERON:0000006	85.61	gold quality
neocortex	UBERON:0001950	85.52	gold quality
frontal cortex	UBERON:0001870	85.51	gold quality
vagina	UBERON:0000996	85.49	gold quality
ovary	UBERON:0000992	85.40	gold quality
uterine cervix	UBERON:0000002	85.24	gold quality
nucleus accumbens	UBERON:0001882	85.24	gold quality
left testis	UBERON:0004533	85.05	gold quality
gastrocnemius	UBERON:0001388	84.97	gold quality
muscle of leg	UBERON:0001383	84.89	gold quality
adipose tissue of abdominal region	UBERON:0007808	84.88	gold quality
right testis	UBERON:0004534	84.50	gold quality
popliteal artery	UBERON:0002250	84.14	gold quality
tibial artery	UBERON:0007610	84.13	gold quality
granulocyte	CL:0000094	84.07	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.16

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 77 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Liver	tissue	126.1	low
Kidney	tissue	82.1	medium
Breast	tissue	62.7	not detected
Pancreas	tissue	57.0	not detected
Nucleus accumbens	tissue	56.7
Postcentral gyrus	tissue	49.5
Locus coeruleus	tissue	49.2
Hippocampus	tissue	45.6	not detected
Salivary gland	tissue	37.5	not detected
Ovary	tissue	32.3	not detected
Skin 1	tissue	31.2	low
Placenta	tissue	25.3	not detected
Choroid plexus	tissue	24.7
Fallopian tube	tissue	22.1	not detected
Stomach 1	tissue	21.3	not detected
Prostate	tissue	20.5	not detected
Heart muscle	tissue	19.4	not detected
Vagina	tissue	18.5	not detected
Gallbladder	tissue	18.3	not detected
Lung	tissue	18.1	not detected
Rectum	tissue	17.9	not detected
Seminal vesicle	tissue	17.6	not detected
Skeletal muscle	tissue	17.6	not detected
Duodenum	tissue	17.3	low
Esophagus	tissue	15.1	not detected
Colon	tissue	15.0	not detected
Small intestine	tissue	14.8	low
Endometrium 1	tissue	14.6	not detected
Tongue	tissue	13.7
Epididymis	tissue	13.1	not detected
Testis	tissue	12.6	low
Urinary bladder	tissue	12.6	not detected
Tonsil	tissue	12.6	not detected
Smooth muscle	tissue	12.5	not detected
Adipose tissue	tissue	11.8	not detected
Prefrontal cortex	tissue	11.6
Cerebral cortex	tissue	11.6	not detected
Amygdala	tissue	11.6
Lymph node	tissue	11.5	not detected
Insular cortex	tissue	11.5
Motor cortex	tissue	11.4
Retrosplenial and cingulate cortex	tissue	11.3
Appendix	tissue	11.3	low
Spleen	tissue	11.2	not detected
Cervix	tissue	11.0	not detected
Hippocampal formation	tissue	10.9
Entorhinal cortex	tissue	10.9
Temporal cortex	tissue	10.6
Retrosplenial cortex	tissue	10.4
Bone marrow	tissue	10.3	not detected
Septum	tissue	9.9
Thyroid gland	tissue	9.8	not detected
Somatosensory cortex	tissue	9.8
Olfactory bulb	tissue	9.0
Parathyroid gland	tissue	8.8
Occipital cortex	tissue	8.8
Spinal cord	tissue	8.7
Pituitary gland	tissue	8.6
Thymus	tissue	8.6
Basal ganglia	tissue	8.3	not detected

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Parieto-temporal junction (white matter) (184.4), Temporal white matter (159.0), Corpus callosum, splenium (white matter) (144.9), Corpus callosum, genu (white matter) (137.1), Cerebellar white matter (120.9).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AHR, ESR1

miRNA regulators (miRDB)

Targeting AFMID by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 39 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-2113	99.58	71.22	1521
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-323B-3P	99.14	68.89	725
HSA-MIR-6814-5P	99.03	66.68	1273
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051

Functional genomics

gnomAD constraint: pLI 5.37e-11, LOEUF 1.02, missense Z 0.436 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000409257 — one region, missense o/e 0.97.

Literature-anchored findings (GeneRIF, showing 1)

• A human-specific switch of alternatively spliced AFMID isoforms contributes to TP53 mutations and tumor recurrence in hepatocellular carcinoma (PMID:29449409)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	afmid	ENSDARG00000099106
mus_musculus	Afmid	ENSMUSG00000017718
rattus_norvegicus	Afmid	ENSRNOG00000050205
drosophila_melanogaster	KFase	FBGN0287695
caenorhabditis_elegans		WBGENE00017051

Paralogs (5): AADAC (ENSG00000114771), NCEH1 (ENSG00000144959), AADACL3 (ENSG00000188984), AADACL2 (ENSG00000197953), AADACL4 (ENSG00000204518)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2448704) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 14 distinct phenotype terms.

Mouse phenotype (MP)	Records
hyperactivity	2
increased circulating glucose level	2
polydipsia	1
hyperglycemia	1
polyuria	1
increased mean corpuscular volume	1
decreased insulin secretion	1
abnormal pancreatic islet morphology	1
impaired glucose tolerance	1
increased mean corpuscular hemoglobin	1
decreased pancreatic islet number	1
abnormal urine homeostasis	1
decreased grip strength	1
increased circulating fructosamine level	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Salmo salar	B5XB27	80.6%	Diamond
Oryza sativa Japonica Group	Q6L5F5	75.9%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
IL40	protein-coding	100141515
BIRC5	protein-coding	332
TK1	protein-coding	7083
SYNGR2	protein-coding	9144
TMEM235	protein-coding	283999
TMC6	protein-coding	11322
TMC8	protein-coding	147138
LINC01993	ncRNA	100996291

Protein

Protein identifiers

Kynurenine formamidase — Q63HM1 (reviewed: Q63HM1)

Alternative names: Arylformamidase, N-formylkynurenine formamidase

All UniProt accessions (9): Q63HM1, K7EIX3, K7EK09, K7ELV9, K7EMI4, K7EMM5, K7EPF8, K7EQK5, W4VSQ7

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites.

Subunit / interactions. Homodimer.

Subcellular location. Cytoplasm. Cytosol. Nucleus.

Domain organisation. The main chain amide nitrogen atoms of the second glycine and its adjacent residue in the HGGXW motif define the oxyanion hole, and stabilize the oxyanion that forms during the nucleophilic attack by the catalytic serine during substrate cleavage.

Pathway. Amino-acid degradation; L-tryptophan degradation via kynurenine pathway; L-kynurenine from L-tryptophan: step 2/2.

Similarity. Belongs to the kynurenine formamidase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q63HM1-1	1	yes
Q63HM1-2	2

RefSeq proteins (11): NP_001010982, NP_001138998, NP_001378928, NP_001378929, NP_001378930, NP_001378931, NP_001378932, NP_001378933, NP_001378934, NP_001378935, NP_001378936 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013094	AB_hydrolase_3	Domain
IPR027519	KFase_ver/fungi-typ	Family
IPR029058	AB_hydrolase_fold	Homologous_superfamily
IPR050300	GDXG_lipolytic_enzyme	Family

Pfam: PF07859

Catalyzed reactions (Rhea)

• N-formyl-L-kynurenine + H2O = L-kynurenine + formate + H(+) (RHEA:13009)

UniProt features (7 total): active site 3, chain 1, short sequence motif 1, splice variant 1, sequence conflict 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q63HM1-F1	94.39	0.92

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Hydrolases, Metabolic proteins, Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): mitochondria

Antibody reliability (HPA): IH uncertain · IF approved

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3)

Position	Role
164	nucleophile
247
279

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 3; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

3 pathways:

ID	Pathway	Evidence
R-HSA-1430728	Metabolism	—
R-HSA-71291	Metabolism of amino acids and derivatives	—
R-HSA-71240	Tryptophan catabolism	electronic

MSigDB gene sets: 118 (showing top): GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, REACTOME_TRYPTOPHAN_CATABOLISM, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_NADPLUS_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_AROMATIC_AMINO_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_INDOLE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, GOBP_BENZENE_CONTAINING_COMPOUND_METABOLIC_PROCESS, FISCHER_DREAM_TARGETS

GO Biological Process (2): ‘de novo’ NAD+ biosynthetic process from L-tryptophan (GO:0034354), L-tryptophan catabolic process (GO:0006569)

GO Molecular Function (3): arylformamidase activity (GO:0004061), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

2 top-level categories:

Category	Pathways
Metabolism of amino acids and derivatives	1
Metabolism	1

GO top-level categories

15 GO namespaces:

Category	Terms
cellular anatomical structure	2
aromatic amino acid metabolic process	1
NAD+ biosynthetic process	1
indole-containing compound metabolic process	1
proteinogenic amino acid metabolic process	1
amino acid catabolic process	1
aromatic amino acid catabolic process	1
indole-containing compound catabolic process	1
proteinogenic amino acid catabolic process	1
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	1
binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

showing 15 of 1,057 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AFMID	KMO	O15229	835
AFMID	KYNU	Q16719	829
AFMID	TDO2	P48775	815
AFMID	HAAO	P46952	811
AFMID	QPRT	Q15274	773
AFMID	IDO2	Q6ZQW0	711
AFMID	ACMSD	Q8TDX5	653
AFMID	IDO1	P14902	642
AFMID	KYAT1	Q16773	620
AFMID	NAPRT	Q6XQN6	620
AFMID	KYAT3	Q6YP21	598
AFMID	AADAT	Q8N5Z0	566
AFMID	TMEM235	A6NFC5	499
AFMID	A0A494C066	A0A494C066	493
AFMID	NADSYN1	Q6IA69	479

IntAct

Human interaction partners of AFMID in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

5 partners by confidence:

Partner	Interaction type	MIscore	Records
DDIT4L	physical association	0.560	5
MED18	physical association	0.560	3
MEI4	physical association	0.560	3
STC2	physical association	0.400	1
CFTR	physical association	0.370	1

BioGRID (17 interactions; top human partners by supporting records): AGO2 (Affinity Capture-RNA), CFTR (PCA), CSK (Synthetic Lethality), DDIT4L (Two-hybrid), ELAVL1 (Affinity Capture-RNA), HNRNPH1 (Affinity Capture-RNA), HNRNPL (Affinity Capture-RNA), MED18 (Two-hybrid), MEI4 (Two-hybrid), METTL3 (Affinity Capture-MS), NUDT21 (Affinity Capture-RNA), PCBD1 (Co-fractionation), STC2 (Affinity Capture-MS), STK17B (Affinity Capture-MS), TOMM40L (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for AFMID: 71 ClinVar records (0 pathogenic / likely pathogenic); 7 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	10
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 43 predictions of 704):

Position(s)	Effect	Δscore	Sites
17:78191048	donor_gain	1.0000
17:78202491	acceptor_gain	1.0000
17:78205738–78205740	donor_loss	1.0000	7
17:78187434–78187435	donor_loss	0.9900	2
17:78191061–78191062	donor_loss	0.9900	5
17:78202701–78202702	acceptor_loss	0.9900	6
17:78202752–78202753	donor_loss	0.9900	5
17:78204826–78204827	acceptor_loss	0.9900	6
17:78205438–78205439	acceptor_loss	0.9900	5
17:78205519–78205520	donor_loss	0.9900	5

AlphaMissense

378 missense substitutions predicted likely pathogenic (of 1,979 scored), across 136 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
H279	8	0.819	0.943
D77	8	0.810	0.877
D247	8	0.743	0.846
W99	7	0.886	0.957
F251	7	0.860	0.955
F280	7	0.858	0.952
D278	7	0.813	0.905
H163	7	0.754	0.865
G166	6	0.827	0.934
W178	6	0.805	0.911
F197	6	0.794	0.915
W32	6	0.785	0.848
F109	6	0.768	0.935
N208	6	0.683	0.770
S194	5	0.930	0.972
S222	5	0.873	0.961
G195	5	0.858	0.920
F258	5	0.826	0.889
F93	5	0.819	0.938
Y27	5	0.786	0.874

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	0.000173
Skin Cutaneous Melanoma (TCGA)	unfavorable	0.000201

Disease associations

OMIM: gene MIM:621151 | disease phenotypes:

GWAS associations

7 associations:

Study	Trait	p-value
GCST012020_23	Serum metabolite levels	4e-43
GCST009733_154	Urinary metabolite levels in chronic kidney disease	1e-27
GCST009733_203	Urinary metabolite levels in chronic kidney disease	2e-13
GCST012353_42	Serum metabolite concentrations in chronic kidney disease	2e-13
GCST012020_22	Serum metabolite levels	5e-12
GCST010397_81	Gut microbiota (bacterial taxa, rank normal transformation method)	5e-7
GCST004785_35	Vitiligo	2e-6

EFO canonical traits (from GWAS)

2 canonical traits:

EFO ID	Trait name
EFO:0005116	urinary metabolite measurement
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression, affects binding, increases reaction (+1 more)	3
aristolochic acid I	increases expression	1
bisphenol A	affects expression	1
beta-lapachone	decreases expression, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
licochalcone B	increases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	decreases expression	1
Doxorubicin	decreases expression	1
Gallic Acid	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Silicon Dioxide	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	decreases expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.