KIAA1191

Summary

KIAA1191 (HGNC:29209) is a protein-coding gene on chromosome 5q35.2, encoding Putative monooxygenase p33MONOX (Q96A73). Potential NADPH-dependent oxidoreductase.

Predicted to enable oxidoreductase activity. Located in mitochondrion.

Source: NCBI Gene 57179 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 57 total
• MANE Select transcript: NM_020444

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29209
Approved symbol	KIAA1191
Name	KIAA1191
Location	5q35.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21022, p33MONOX, p60MONOX
Ensembl gene	ENSG00000122203
Ensembl biotype	protein_coding
Entrez	57179

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 29 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000298569, ENST00000393725, ENST00000393728, ENST00000503082, ENST00000504688, ENST00000506613, ENST00000506668, ENST00000506983, ENST00000508023, ENST00000510164, ENST00000533553, ENST00000614420, ENST00000620366, ENST00000881475, ENST00000881476, ENST00000881477, ENST00000881478, ENST00000881479, ENST00000881480, ENST00000881481, ENST00000881482, ENST00000881483, ENST00000881484, ENST00000881485, ENST00000938951, ENST00000938952, ENST00000938954, ENST00000938955, ENST00000938956, ENST00000938957, ENST00000954738, ENST00000954739, ENST00000954740

RefSeq mRNA: 5 — MANE Select: NM_020444 NM_001079684, NM_001079685, NM_001287335, NM_001287336, NM_020444

CCDS: CCDS43402, CCDS4399, CCDS75373

Canonical transcript exons

ENST00000298569 — 9 exons

Exon	Start	End
ENSE00001196783	176352622	176352748
ENSE00001280503	176350613	176350737
ENSE00001339221	176359811	176359918
ENSE00002048334	176361602	176361764
ENSE00003486462	176359481	176359567
ENSE00003512159	176347921	176348063
ENSE00003527736	176348250	176348356
ENSE00003580981	176346062	176347808
ENSE00003645163	176355571	176355749

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 99.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 72.9533 / max 810.8438, expressed in 1820 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
64996	72.9533	1820

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	99.31	gold quality
adult mammalian kidney	UBERON:0000082	98.43	gold quality
renal medulla	UBERON:0000362	98.12	gold quality
cortical plate	UBERON:0005343	98.00	gold quality
ganglionic eminence	UBERON:0004023	97.91	gold quality
embryo	UBERON:0000922	97.90	gold quality
adult organism	UBERON:0007023	97.78	gold quality
kidney	UBERON:0002113	97.73	gold quality
ileal mucosa	UBERON:0000331	97.62	gold quality
upper arm skin	UBERON:0004263	97.57	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.27	gold quality
epithelial cell of pancreas	CL:0000083	97.23	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.20	gold quality
substantia nigra pars compacta	UBERON:0001965	97.09	gold quality
upper leg skin	UBERON:0004262	96.98	gold quality
cortex of kidney	UBERON:0001225	96.95	gold quality
entorhinal cortex	UBERON:0002728	96.95	gold quality
pigmented layer of retina	UBERON:0001782	96.92	gold quality
retina	UBERON:0000966	96.89	gold quality
cardiac muscle of right atrium	UBERON:0003379	96.85	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.84	gold quality
gingival epithelium	UBERON:0001949	96.77	gold quality
middle temporal gyrus	UBERON:0002771	96.72	gold quality
ventricular zone	UBERON:0003053	96.71	gold quality
esophagus squamous epithelium	UBERON:0006920	96.71	gold quality
left ovary	UBERON:0002119	96.66	gold quality
parotid gland	UBERON:0001831	96.65	gold quality
temporal lobe	UBERON:0001871	96.65	gold quality
anterior cingulate cortex	UBERON:0009835	96.64	gold quality
prefrontal cortex	UBERON:0000451	96.63	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-110499	no	294.86
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

74 targeting KIAA1191, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4775	99.98	75.00	6394
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-548O-3P	99.74	69.30	2228

Literature-anchored findings (GeneRIF, showing 2)

• p33MONOX might regulate pre- and post-transcriptional control of dynamic processes related to growth cone guidance. (PMID:21153684)
• The role of KIAA1191 in the necroptotic pathway of multiple myeloma. (PMID:34989828)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:123105	ENSDARG00000003127
mus_musculus	4833439L19Rik	ENSMUSG00000025871
rattus_norvegicus	Kiaa1191	ENSRNOG00000017133

Protein

Protein identifiers

Putative monooxygenase p33MONOX — Q96A73 (reviewed: Q96A73)

Alternative names: Brain-derived rescue factor p60MONOX, Flavin monooxygenase motif-containing protein of 33 kDa

All UniProt accessions (6): A0A087WT18, D6RAJ7, D6RCE3, D6RF63, E9PKI5, Q96A73

UniProt curated annotations — full annotation on UniProt →

Function. Potential NADPH-dependent oxidoreductase. May be involved in the regulation of neuronal survival, differentiation and axonal outgrowth.

Subunit / interactions. Interacts with NELFB, NOL12 and PRNP.

Subcellular location. Cytoplasm.

Tissue specificity. Down-regulated in the occipital lobe of an early stage Alzheimer disease patients.

Similarity. Belongs to the P33MONOX family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96A73-1	1	yes
Q96A73-2	2
Q96A73-3	3

RefSeq proteins (5): NP_001073152, NP_001073153, NP_001274264, NP_001274265, NP_065177* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026759	P33MONOX	Family

Pfam: PF15302

UniProt features (17 total): modified residue 4, sequence conflict 4, region of interest 3, splice variant 2, compositionally biased region 2, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96A73-F1	59.02	0.00

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 (4): 183, 44, 175, 182

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 108 (showing top): BENPORATH_ES_WITH_H3K27ME3, GCM_GSPT1, CHANDRAN_METASTASIS_DN, GCM_NF2, MARSON_BOUND_BY_FOXP3_STIMULATED, VANOEVELEN_MYOGENESIS_SIN3A_TARGETS, ZWANG_EGF_INTERVAL_DN, GCM_RAB10, GSE10240_IL22_VS_IL17_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_UP, BANP_TARGET_GENES, DYRK1A_TARGET_GENES, HOXB6_TARGET_GENES, IRF5_TARGET_GENES, NFE2L1_TARGET_GENES, PPARA_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (2): oxidoreductase activity (GO:0016491), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
catalytic activity	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

376 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIAA1191	CNBD2	Q96M20	585
KIAA1191	WBP1	Q96G27	517
KIAA1191	RAB33A	Q14088	485
KIAA1191	POF1B	Q8WVV4	478
KIAA1191	SLC31A2	O15432	471
KIAA1191	ACP1	P24666	443
KIAA1191	TNIP1	Q15025	442
KIAA1191	MXD4	Q14582	437
KIAA1191	WFDC3	Q8IUB2	427
KIAA1191	A0A087WVV2	A0A087WVV2	426
KIAA1191	NOL12	Q9UGY1	422
KIAA1191	HEXB	P07686	412
KIAA1191	SPPL2A	Q8TCT8	410
KIAA1191	SMPD4	Q9NXE4	410
KIAA1191	TBC1D22B	Q9NU19	400

IntAct

26 interactions, top by confidence:

A	B	Type	Score
CLPB	CLUH	psi-mi:“MI:0914”(association)	0.530
POT1	KIAA1191	psi-mi:“MI:0915”(physical association)	0.510
KIAA1191	SPAG9	psi-mi:“MI:0915”(physical association)	0.400
KIAA1191	NOTCH1	psi-mi:“MI:0915”(physical association)	0.370
CACNA1A	KIAA1191	psi-mi:“MI:0915”(physical association)	0.370
KIAA1191	GSK3B	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
CLPB	GTPBP10	psi-mi:“MI:0914”(association)	0.350
KIAA1191	NPHS1	psi-mi:“MI:0914”(association)	0.350
PKD1L2	RAD50	psi-mi:“MI:0914”(association)	0.350
KIAA1191	HSPA9	psi-mi:“MI:0914”(association)	0.350
DNASE1L1	TIMP3	psi-mi:“MI:0914”(association)	0.350
KIAA1191	UBA6	psi-mi:“MI:0914”(association)	0.350
THAP7	KIAA1191	psi-mi:“MI:0914”(association)	0.350
AIFM1	NUDT19	psi-mi:“MI:2364”(proximity)	0.270
COX14	NUDT19	psi-mi:“MI:2364”(proximity)	0.270
PLGRKT	HAX1	psi-mi:“MI:2364”(proximity)	0.270
SCO1	HAX1	psi-mi:“MI:2364”(proximity)	0.270
SFXN1	HAX1	psi-mi:“MI:2364”(proximity)	0.270
IMMP1L	NUDT19	psi-mi:“MI:2364”(proximity)	0.270
FGFR4	SH3PXD2B	psi-mi:“MI:2364”(proximity)	0.270
YWHAH	E2F8	psi-mi:“MI:2364”(proximity)	0.270
KIAA1191	POT1	psi-mi:“MI:0915”(physical association)	0.000
KIAA1191	PRNP	psi-mi:“MI:0407”(direct interaction)	0.000
KIAA1191	NOL12	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (64): HSPA8 (Affinity Capture-MS), HSPA6 (Affinity Capture-MS), CARM1 (Affinity Capture-MS), KIAA1191 (Affinity Capture-MS), KIAA1191 (Affinity Capture-MS), KIAA1191 (Affinity Capture-MS), KIAA1191 (Affinity Capture-MS), KIAA1191 (Affinity Capture-MS), KIAA1191 (Affinity Capture-MS), KIAA1191 (Affinity Capture-MS), KIAA1191 (Affinity Capture-MS), KIAA1191 (Affinity Capture-MS), KIAA1191 (Reconstituted Complex), KIAA1191 (Affinity Capture-MS), CARM1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RR37, A1L170, A1L1I3, A1L260, A2AMM0, A4IFJ0, B5G1P1, D3ZQL6, E7F5E1, G5BQH4, O08919, O54724, O60237, O75420, P06759, P33622, P53814, P85125, Q2KI85, Q2TAL5, Q3T044, Q3UMT1, Q4RTJ5, Q4V882, Q5I1X5, Q5U2R6, Q63312, Q6NZI2, Q75AS0, Q80VC9, Q8BG95, Q8BGT6, Q8C0J6, Q8CI12, Q8IV56, Q8K382, Q8N3F8, Q8TEH3, Q8WUF5, Q91VJ2

Diamond homologs: A4QNZ7, Q32NP7, Q3T044, Q5F368, Q5R8Q8, Q5U2R6, Q96A73, Q9DBN4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1669 predictions. Top by Δscore:

Variant	Effect	Δscore
5:176347805:CTTC:C	acceptor_gain	1.0000
5:176347807:TCCTA:T	acceptor_loss	1.0000
5:176347809:C:CC	acceptor_gain	1.0000
5:176347809:CTACA:C	acceptor_loss	1.0000
5:176347810:T:C	acceptor_loss	1.0000
5:176348061:CCC:C	acceptor_gain	1.0000
5:176348062:CCC:C	acceptor_gain	1.0000
5:176348362:C:CT	acceptor_gain	1.0000
5:176350611:A:AC	donor_gain	1.0000
5:176350612:C:CC	donor_gain	1.0000
5:176350733:CTGTT:C	acceptor_gain	1.0000
5:176350735:GTTCT:G	acceptor_loss	1.0000
5:176350736:TTCT:T	acceptor_loss	1.0000
5:176350737:TC:T	acceptor_loss	1.0000
5:176350738:C:CC	acceptor_gain	1.0000
5:176350738:C:G	acceptor_loss	1.0000
5:176350739:T:G	acceptor_loss	1.0000
5:176352616:GCTT:G	donor_loss	1.0000
5:176352617:CTTAC:C	donor_loss	1.0000
5:176352618:TTAC:T	donor_loss	1.0000
5:176352619:TA:T	donor_loss	1.0000
5:176352620:A:AC	donor_gain	1.0000
5:176352620:A:C	donor_loss	1.0000
5:176352621:C:CC	donor_gain	1.0000
5:176352621:CTT:C	donor_gain	1.0000
5:176352746:CACCT:C	acceptor_loss	1.0000
5:176352747:ACC:A	acceptor_loss	1.0000
5:176352748:CCTGT:C	acceptor_loss	1.0000
5:176352749:C:A	acceptor_loss	1.0000
5:176352750:T:A	acceptor_loss	1.0000

AlphaMissense

1971 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:176347603:G:C	F305L	0.989
5:176347603:G:T	F305L	0.989
5:176347605:A:G	F305L	0.989
5:176350709:A:C	F121L	0.979
5:176350709:A:T	F121L	0.979
5:176350711:A:G	F121L	0.979
5:176355615:A:G	W55R	0.979
5:176355615:A:T	W55R	0.979
5:176347604:A:G	F305S	0.964
5:176352656:T:A	K100N	0.959
5:176352656:T:G	K100N	0.959
5:176347624:A:C	N298K	0.958
5:176347624:A:T	N298K	0.958
5:176355613:C:A	W55C	0.958
5:176355613:C:G	W55C	0.958
5:176352662:C:A	K98N	0.954
5:176352662:C:G	K98N	0.954
5:176352634:A:G	S108P	0.947
5:176347963:A:G	W223R	0.942
5:176347963:A:T	W223R	0.942
5:176350663:C:G	G137R	0.941
5:176352657:T:A	K100I	0.941
5:176347604:A:C	F305C	0.933
5:176352630:A:G	L109P	0.928
5:176352654:G:T	A101D	0.927
5:176350692:A:G	L127P	0.924
5:176347607:C:T	G304D	0.923
5:176350736:T:A	K112N	0.923
5:176350736:T:G	K112N	0.923
5:176347622:A:T	V299E	0.920

dbSNP variants (sampled 300 via entrez): RS1000022065 (5:176360314 G>A,T), RS1000054837 (5:176360529 G>C), RS1000087492 (5:176353000 C>G), RS1000498433 (5:176345905 TA>T), RS1000524989 (5:176353304 C>A,T), RS1000669857 (5:176352338 T>C), RS1000913770 (5:176345829 A>G), RS1001029024 (5:176361423 C>A), RS1001195374 (5:176357335 A>T), RS1001642053 (5:176351206 T>G), RS1001694205 (5:176358307 T>C), RS1001796001 (5:176351685 G>A), RS1001973545 (5:176352176 A>C), RS1002164816 (5:176351301 A>C), RS1002233800 (5:176357703 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

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases oxidation, affects expression, decreases expression, increases expression (+1 more)	4
Valproic Acid	affects cotreatment, decreases expression, affects expression	4
sodium arsenite	increases abundance, increases expression	2
Ozone	affects cotreatment, increases oxidation, increases abundance, affects expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, increases oxidation	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
Resveratrol	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Arsenic	increases abundance, increases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Coumestrol	decreases expression	1
Diazinon	increases methylation	1
Doxorubicin	increases expression	1
Lead	affects splicing	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Volatile Organic Compounds	affects cotreatment, increases oxidation	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1V7	Abcam HeLa KIAA1191 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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