UTY
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Also known as KDM6ALKDM6C
Summary
UTY (ubiquitously transcribed tetratricopeptide repeat containing, Y-linked, HGNC:12638) is a protein-coding gene on chromosome Yq11.221, encoding Histone demethylase UTY (O14607). Male-specific histone demethylase that catalyzes trimethylated ‘Lys-27’ (H3K27me3) demethylation in histone H3.
This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. A large number of alternatively spliced transcripts have been observed for this gene, but the full length nature of some of these variants has not been determined.
Source: NCBI Gene 7404 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 115 total
- MANE Select transcript:
NM_001258249
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12638 |
| Approved symbol | UTY |
| Name | ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
| Location | Yq11.221 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KDM6AL, KDM6C |
| Ensembl gene | ENSG00000183878 |
| Ensembl biotype | protein_coding |
| OMIM | 400009 |
| Entrez | 7404 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 19 protein_coding, 3 protein_coding_CDS_not_defined, 3 non_stop_decay, 2 nonsense_mediated_decay
ENST00000329134, ENST00000331397, ENST00000362096, ENST00000382893, ENST00000382896, ENST00000474365, ENST00000478900, ENST00000479713, ENST00000537580, ENST00000538878, ENST00000540140, ENST00000545955, ENST00000612274, ENST00000617789, ENST00000618474, ENST00000624098, ENST00000682112, ENST00000682216, ENST00000682761, ENST00000682913, ENST00000684226, ENST00000684326, ENST00000920132, ENST00000920133, ENST00000920134, ENST00000943643, ENST00000943644
RefSeq mRNA: 40 — MANE Select: NM_001258249
NM_001258249, NM_001258250, NM_001258251, NM_001258252, NM_001258253, NM_001258254, NM_001258255, NM_001258256, NM_001258257, NM_001258258, NM_001258259, NM_001258260, NM_001258261, NM_001258262, NM_001258263, NM_001258264, NM_001258265, NM_001258266, NM_001258267, NM_001258268, NM_001258269, NM_001258270, NM_001400170, NM_001400171, NM_001400173, NM_001400175, NM_001400177, NM_001400178, NM_001400181, NM_001400183, NM_001400185, NM_001400187, NM_001400189, NM_001400192, NM_001400195, NM_001400199, NM_001419806, NM_007125, NM_182659, NM_182660
CCDS: CCDS14783, CCDS14784, CCDS14785, CCDS59184, CCDS59185, CCDS76073, CCDS76074, CCDS76075, CCDS76076, CCDS76077, CCDS76078, CCDS76079, CCDS94713
Canonical transcript exons
ENST00000545955 — 30 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001696208 | 13355003 | 13355398 |
| ENSE00001713248 | 13251017 | 13251187 |
| ENSE00003740138 | 13358464 | 13358619 |
| ENSE00003760914 | 13479254 | 13479317 |
| ENSE00003761778 | 13260278 | 13260404 |
| ENSE00003763345 | 13359088 | 13359222 |
| ENSE00003764116 | 13357877 | 13357969 |
| ENSE00003764349 | 13470121 | 13470229 |
| ENSE00003765183 | 13306186 | 13306250 |
| ENSE00003766641 | 13335563 | 13336335 |
| ENSE00003766868 | 13369256 | 13369349 |
| ENSE00003767034 | 13302877 | 13302991 |
| ENSE00003767118 | 13410993 | 13411113 |
| ENSE00003767180 | 13324601 | 13324706 |
| ENSE00003767626 | 13297707 | 13297848 |
| ENSE00003769216 | 13366267 | 13366393 |
| ENSE00003769525 | 13449017 | 13449066 |
| ENSE00003769684 | 13323555 | 13323760 |
| ENSE00003771302 | 13359767 | 13359986 |
| ENSE00003771339 | 13298957 | 13299144 |
| ENSE00003771662 | 13326221 | 13326350 |
| ENSE00003772193 | 13360430 | 13360528 |
| ENSE00003772234 | 13393859 | 13393893 |
| ENSE00003772506 | 13355923 | 13356018 |
| ENSE00003772825 | 13396918 | 13396972 |
| ENSE00003773199 | 13305399 | 13305547 |
| ENSE00003773354 | 13414735 | 13414793 |
| ENSE00003774613 | 13306038 | 13306112 |
| ENSE00003919485 | 13248385 | 13249882 |
| ENSE00003921406 | 13479514 | 13480033 |
Expression profiles
Bgee: expression breadth ubiquitous, 212 present calls, max score 84.12.
FANTOM5 (CAGE): breadth broad, TPM avg 9.9649 / max 239.9423, expressed in 882 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 201257 | 9.3135 | 876 |
| 201256 | 0.3619 | 177 |
| 201255 | 0.1848 | 100 |
| 201253 | 0.1047 | 31 |
Top tissues by expression
270 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 84.12 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.90 | gold quality |
| corpus callosum | UBERON:0002336 | 82.34 | gold quality |
| adrenal tissue | UBERON:0018303 | 82.08 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.37 | gold quality |
| type B pancreatic cell | CL:0000169 | 81.12 | gold quality |
| olfactory bulb | UBERON:0002264 | 81.06 | gold quality |
| blood vessel layer | UBERON:0004797 | 79.23 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 78.29 | gold quality |
| rectum | UBERON:0001052 | 78.02 | gold quality |
| right lung | UBERON:0002167 | 77.23 | gold quality |
| metanephros cortex | UBERON:0010533 | 76.92 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 76.78 | gold quality |
| prostate gland | UBERON:0002367 | 76.73 | gold quality |
| cartilage tissue | UBERON:0002418 | 76.65 | gold quality |
| corpus epididymis | UBERON:0004359 | 76.52 | gold quality |
| tendon | UBERON:0000043 | 76.40 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 76.27 | gold quality |
| secondary oocyte | CL:0000655 | 75.43 | silver quality |
| pancreatic ductal cell | CL:0002079 | 75.39 | silver quality |
| caput epididymis | UBERON:0004358 | 74.60 | gold quality |
| oocyte | CL:0000023 | 74.36 | silver quality |
| calcaneal tendon | UBERON:0003701 | 74.16 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 74.14 | silver quality |
| cauda epididymis | UBERON:0004360 | 74.12 | gold quality |
| diaphragm | UBERON:0001103 | 73.96 | gold quality |
| medial globus pallidus | UBERON:0002477 | 73.88 | gold quality |
| colonic epithelium | UBERON:0000397 | 73.36 | gold quality |
| parietal pleura | UBERON:0002400 | 73.20 | gold quality |
| oral cavity | UBERON:0000167 | 72.56 | silver quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-109979 | yes | 6.89 |
| E-ANND-3 | yes | 4.12 |
| E-MTAB-6058 | no | 375.69 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HAND2
Literature-anchored findings (GeneRIF, showing 7)
- UTY(KDM6C) is an active lysine demethylases and catalyzes demethylation of H3K27 peptides. (PMID:24798337)
- both UTX and UTY function as dose-dependent suppressors of urothelial bladder cancer development (PMID:27533081)
- UTY is co-regulated with KDM6A. UTY compensates for KDM6A in eutherian males and is responsible for the association between the loss of the Y chromosome and poor prognosis in a range of cancers. [review] (PMID:31097364)
- Identification of Potential Biomarkers for Intervertebral Disc Degeneration Using the Genome-Wide Expression Analysis. (PMID:31904996)
- X- and Y-Linked Chromatin-Modifying Genes as Regulators of Sex-Specific Cancer Incidence and Prognosis. (PMID:32732223)
- Increased Expression of Y-Encoded Demethylases During Differentiation of Human Male Neural Stem Cells. (PMID:33040644)
- Y-Chromosome Gene, Uty, Protects Against Pulmonary Hypertension by Reducing Proinflammatory Chemokines. (PMID:35504005)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kdm6a | ENSDARG00000061759 |
| mus_musculus | Uty | ENSMUSG00000068457 |
| rattus_norvegicus | Uty | ENSRNOG00000060617 |
| drosophila_melanogaster | Utx | FBGN0260749 |
| caenorhabditis_elegans | WBGENE00007813 | |
| caenorhabditis_elegans | WBGENE00009089 | |
| caenorhabditis_elegans | WBGENE00017046 | |
| caenorhabditis_elegans | WBGENE00017571 |
Paralogs (2): KDM6B (ENSG00000132510), KDM6A (ENSG00000147050)
Protein
Protein identifiers
Histone demethylase UTY — O14607 (reviewed: O14607)
Alternative names: Ubiquitously-transcribed TPR protein on the Y chromosome, Ubiquitously-transcribed Y chromosome tetratricopeptide repeat protein, [histone H3]-trimethyl-L-lysine(27) demethylase UTY
All UniProt accessions (16): A0A087X0Y2, A0A087X248, O14607, A0A087X2I9, A0A096LPD8, A0A804HHT1, A0A804HI49, A0A804HJV1, A0A804HKG5, A0A804HL26, A0A8C8KHL4, A6NCS7, F4MH27, F5GWV3, F5H3N7, F5H8B4
UniProt curated annotations — full annotation on UniProt →
Function. Male-specific histone demethylase that catalyzes trimethylated ‘Lys-27’ (H3K27me3) demethylation in histone H3. Has relatively low lysine demethylase activity.
Subunit / interactions. Interacts with TLE1 and TLE2.
Subcellular location. Nucleus.
Similarity. Belongs to the UTX family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O14607-1 | 1, Long | yes |
| O14607-2 | 2, Short | |
| O14607-3 | 3 | |
| O14607-4 | 4 | |
| O14607-5 | 5 |
RefSeq proteins (40): NP_001245178, NP_001245179, NP_001245180, NP_001245181, NP_001245182, NP_001245183, NP_001245184, NP_001245185, NP_001245186, NP_001245187, NP_001245188, NP_001245189, NP_001245190, NP_001245191, NP_001245192, NP_001245193, NP_001245194, NP_001245195, NP_001245196, NP_001245197, NP_001245198, NP_001245199, NP_001387099, NP_001387100, NP_001387102, NP_001387104, NP_001387106, NP_001387107, NP_001387110, NP_001387112, NP_001387114, NP_001387116, NP_001387118, NP_001387121, NP_001387124, NP_001387128, NP_001406735, NP_009056, NP_872600, NP_872601 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003347 | JmjC_dom | Domain |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
| IPR046941 | KDM6_GATAL_sf | Homologous_superfamily |
| IPR048560 | KDM6A_B-like_GATAL | Domain |
| IPR048562 | KDM6A_B-like_C-hel | Domain |
| IPR051630 | Corepressor-Demethylase | Family |
Pfam: PF02373, PF13181, PF21322, PF21326
Catalyzed reactions (Rhea), 1 shown:
- N(6),N(6),N(6)-trimethyl-L-lysyl(27)-[histone H3] + 2 2-oxoglutarate + 2 O2 = N(6)-methyl-L-lysyl(27)-[histone H3] + 2 formaldehyde + 2 succinate + 2 CO2 (RHEA:60224)
UniProt features (93 total): helix 21, strand 19, sequence conflict 13, repeat 8, binding site 7, splice variant 6, compositionally biased region 5, region of interest 4, turn 4, mutagenesis site 3, chain 1, modified residue 1, domain 1
Structure
Experimental structures (PDB)
12 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4UF0 | X-RAY DIFFRACTION | 1.78 |
| 5FY1 | X-RAY DIFFRACTION | 1.78 |
| 3ZLI | X-RAY DIFFRACTION | 1.8 |
| 5FY7 | X-RAY DIFFRACTION | 1.86 |
| 5FXV | X-RAY DIFFRACTION | 1.91 |
| 5FXZ | X-RAY DIFFRACTION | 1.98 |
| 5FXX | X-RAY DIFFRACTION | 1.99 |
| 3ZPO | X-RAY DIFFRACTION | 2 |
| 5A1L | X-RAY DIFFRACTION | 2 |
| 5FYM | X-RAY DIFFRACTION | 2 |
| 5FXW | X-RAY DIFFRACTION | 2.09 |
| 5FY0 | X-RAY DIFFRACTION | 2.14 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14607-F1 | 70.68 | 0.45 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (7): 1093; 1095; 1173; 1278; 1281; 1305; 1308
Post-translational modifications (1): 887
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 1093 | abolishes lysine demethylase activity. |
| 1138 | no effect on lysine demethylase activity. |
| 1214 | significantly higher lysine demethylase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214842 | HDMs demethylate histones |
MSigDB gene sets: 144 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, RRAGTTGT_UNKNOWN, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, MARTINEZ_RB1_TARGETS_DN, MODULE_171, USF_01, MODULE_301, ATTACAT_MIR3803P, AACTTT_UNKNOWN, AFFAR_YY1_TARGETS_DN, MODULE_188, GOBP_CHROMATIN_REMODELING, MARTINEZ_RB1_AND_TP53_TARGETS_UP, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, RUNNE_GENDER_EFFECT_UP
GO Biological Process (4): heart development (GO:0007507), regulation of gene expression (GO:0010468), chromatin organization (GO:0006325), chromatin remodeling (GO:0006338)
GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), chromatin DNA binding (GO:0031490), histone demethylase activity (GO:0032452), metal ion binding (GO:0046872), histone H3K27me2/H3K27me3 demethylase activity (GO:0071558), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), dioxygenase activity (GO:0051213)
GO Cellular Component (3): nucleoplasm (GO:0005654), MLL3/4 complex (GO:0044666), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| animal organ development | 1 |
| circulatory system development | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| cellular component organization | 1 |
| chromatin organization | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| DNA binding | 1 |
| chromatin binding | 1 |
| protein demethylase activity | 1 |
| histone modifying activity | 1 |
| cation binding | 1 |
| 2-oxoglutarate-dependent dioxygenase activity | 1 |
| histone H3 demethylase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| oxidoreductase activity | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| histone methyltransferase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
6213 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UTY | KDM5D | Q9BY66 | 983 |
| UTY | USP9Y | O00507 | 983 |
| UTY | DDX3Y | O15523 | 982 |
| UTY | TMSB4Y | O14604 | 879 |
| UTY | RBMY1A1 | P0DJD3 | 796 |
| UTY | DAZ1 | Q9NQZ3 | 795 |
| UTY | ZFY | P08048 | 794 |
| UTY | EIF1AY | O14602 | 791 |
| UTY | CDY1 | Q9Y6F8 | 764 |
| UTY | KDM5C | P41229 | 753 |
| UTY | SRY | Q05066 | 750 |
| UTY | DDX3X | O00571 | 746 |
| UTY | BPY2 | O14599 | 731 |
| UTY | RPS4Y1 | P22090 | 727 |
| UTY | DAZ2 | Q13117 | 706 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NCOA6 | UTY | psi-mi:“MI:0914”(association) | 0.530 |
| MEP1B | UTY | psi-mi:“MI:0915”(physical association) | 0.370 |
| PRDX2 | UTY | psi-mi:“MI:0915”(physical association) | 0.370 |
| UTY | KMT2D | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | TEX13D | psi-mi:“MI:0914”(association) | 0.350 |
| PAGR1 | UTY | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (32): UTY (Affinity Capture-MS), UTY (Affinity Capture-MS), UTY (Affinity Capture-MS), TLE1 (Two-hybrid), UTY (Reconstituted Complex), TLE2 (Two-hybrid), UTY (Proximity Label-MS), UTY (Affinity Capture-MS), UTY (Affinity Capture-MS), UTY (Affinity Capture-MS), UTY (Affinity Capture-MS), UTY (Affinity Capture-MS), WDR5 (Affinity Capture-MS), UTY (Affinity Capture-MS), HRG (Affinity Capture-MS)
ESM2 similar proteins: A2RRS8, A2VE78, A5WW08, A6NFN9, C0HAC0, D3YYM4, O14607, O17482, P79457, Q08AW4, Q0V9Y8, Q2HJ90, Q2KI79, Q2YDQ5, Q3MJ13, Q3V0L5, Q4KLV2, Q4KM95, Q562E2, Q5F479, Q5R6E1, Q5RFQ4, Q5SUS0, Q5XGI3, Q5XX13, Q6B4Z3, Q6GPJ8, Q6GQ34, Q6GQV7, Q6INS1, Q6IRU7, Q6P1H6, Q6ZPF3, Q7TP65, Q7ZVU1, Q8C0W1, Q8C2S5, Q8IVF5, Q8IW35, Q8IZM8
Diamond homologs: O14607, O15054, O15550, O70546, P79457, Q5NCY0, Q6B4Z3, Q95QK3, A0A096LPI5, O14628, Q6UX73, Q86U02, Q8N769, Q8N7M2, Q8NDZ0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| 2-oxoglutarate(2-) | “up-regulates activity” | UTY | “chemical activation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
115 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6930 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| Y:13260272:ACTC:A | donor_loss | 1.0000 |
| Y:13260273:CTCA:C | donor_loss | 1.0000 |
| Y:13260274:TCACC:T | donor_loss | 1.0000 |
| Y:13260275:CA:C | donor_loss | 1.0000 |
| Y:13260276:A:AC | donor_gain | 1.0000 |
| Y:13260276:A:C | donor_loss | 1.0000 |
| Y:13260277:C:CC | donor_gain | 1.0000 |
| Y:13260277:CCT:C | donor_gain | 1.0000 |
| Y:13260277:CCTCA:C | donor_gain | 1.0000 |
| Y:13260402:TAC:T | acceptor_gain | 1.0000 |
| Y:13260405:C:CA | acceptor_loss | 1.0000 |
| Y:13260406:T:C | acceptor_loss | 1.0000 |
| Y:13297700:CACTT:C | donor_loss | 1.0000 |
| Y:13297701:ACTTA:A | donor_loss | 1.0000 |
| Y:13297703:TTACT:T | donor_loss | 1.0000 |
| Y:13297704:TACTT:T | donor_loss | 1.0000 |
| Y:13297705:A:AC | donor_gain | 1.0000 |
| Y:13297705:AC:A | donor_loss | 1.0000 |
| Y:13297706:C:A | donor_loss | 1.0000 |
| Y:13297706:C:CT | donor_gain | 1.0000 |
| Y:13297706:CT:C | donor_gain | 1.0000 |
| Y:13297706:CTT:C | donor_gain | 1.0000 |
| Y:13297706:CTTA:C | donor_gain | 1.0000 |
| Y:13297706:CTTAA:C | donor_gain | 1.0000 |
| Y:13297709:A:AC | donor_gain | 1.0000 |
| Y:13297709:AAT:A | donor_gain | 1.0000 |
| Y:13297710:A:C | donor_gain | 1.0000 |
| Y:13297844:GCAGG:G | acceptor_gain | 1.0000 |
| Y:13297845:CAGG:C | acceptor_gain | 1.0000 |
| Y:13297845:CAGGC:C | acceptor_gain | 1.0000 |
AlphaMissense
9514 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| Y:13298978:A:G | W1186R | 1.000 |
| Y:13298978:A:T | W1186R | 1.000 |
| Y:13298991:G:C | C1181W | 1.000 |
| Y:13298994:C:A | W1180C | 1.000 |
| Y:13298994:C:G | W1180C | 1.000 |
| Y:13298996:A:G | W1180R | 1.000 |
| Y:13298996:A:T | W1180R | 1.000 |
| Y:13299038:A:G | W1166R | 1.000 |
| Y:13299038:A:T | W1166R | 1.000 |
| Y:13299046:T:A | D1163V | 1.000 |
| Y:13302929:A:G | W1113R | 1.000 |
| Y:13302929:A:T | W1113R | 1.000 |
| Y:13302946:C:T | G1107D | 1.000 |
| Y:13302947:C:G | G1107R | 1.000 |
| Y:13302951:A:C | N1105K | 1.000 |
| Y:13302951:A:T | N1105K | 1.000 |
| Y:13305524:A:G | L1050P | 1.000 |
| Y:13305546:A:G | W1043R | 1.000 |
| Y:13305546:A:T | W1043R | 1.000 |
| Y:13323570:G:C | F990L | 1.000 |
| Y:13323570:G:T | F990L | 1.000 |
| Y:13323571:A:C | F990C | 1.000 |
| Y:13323571:A:G | F990S | 1.000 |
| Y:13323572:A:G | F990L | 1.000 |
| Y:13324609:A:G | L924P | 1.000 |
| Y:13324627:C:G | R918P | 1.000 |
| Y:13324630:A:C | I917R | 1.000 |
| Y:13324630:A:T | I917K | 1.000 |
| Y:13359839:G:C | C371W | 1.000 |
| Y:13359841:A:G | C371R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000048211 (Y:13320281 A>G), RS1000156757 (Y:13457049 T>A), RS1000276365 (Y:13248370 T>C,G), RS1000303520 (Y:13413410 G>C), RS1000313948 (Y:13474571 A>G), RS1000391406 (Y:13440565 G>A), RS1000424075 (Y:13441678 T>A), RS1000454898 (Y:13418372 A>G), RS1000552096 (Y:13419887 T>C), RS1000569059 (Y:13411577 C>G), RS1000760405 (Y:13448477 A>C), RS1000898520 (Y:13351067 C>T), RS1000922535 (Y:13319387 T>A), RS1001011994 (Y:13384840 A>C), RS1001080631 (Y:13386819 A>G)
Disease associations
OMIM: gene MIM:400009 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010733_4 | Autism | 3.000000e-09 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PubChem BioAssay actives
1 with measured affinity, of 3 total; 1 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 |
|---|---|---|---|---|
| [(5S)-5-[[(2S,3R)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-1-[(2S)-2-[[(2S)-2-[5-[(3aS,4S,6aR)-2-oxo-1,3,3a,4,6,6a-hexahydrothieno[3,4-d]imidazol-4-yl]pentanoylamino]-6-aminohexanoyl]amino]propanoyl]pyrrolidine-2-carbonyl]amino]-5-carbamimidamidopentanoyl]amino]-6-aminohexanoyl]amino]-5-amino-5-oxopentanoyl]amino]-4-methylpentanoyl]amino]propanoyl]amino]-3-hydroxybutanoyl]amino]-6-[[(2S)-1-[[(2S)-1-[[(2S)-1-[[(2S)-6-amino-1-[[(2S)-1-[[(2S)-1-[(2S)-2-[[(2S)-1-[[(2S,3R)-1-[[2-(carboxymethylamino)-2-oxoethyl]amino]-3-hydroxy-1-oxobutan-2-yl]amino]-1-oxopropan-2-yl]carbamoyl]pyrrolidin-1-yl]-1-oxopropan-2-yl]amino]-3-hydroxy-1-oxopropan-2-yl]amino]-1-oxohexan-2-yl]amino]-5-carbamimidamido-1-oxopentan-2-yl]amino]-1-oxopropan-2-yl]amino]-1-oxopropan-2-yl]amino]-6-oxohexyl]-trimethylazanium | 1802884: AlphaScreen Assay from Article 10.1074/jbc.M114.555052: “Human UTY(KDM6C) is a male-specific N¿-methyl lysyl demethylase.” | kd | 3.5000 | uM |
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| FR900359 | increases phosphorylation | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | increases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| abrine | increases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation | 1 |
| Succimer | affects cotreatment, increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Vanadates | increases expression | 1 |
| 8-Bromo Cyclic Adenosine Monophosphate | decreases expression | 1 |
| Cadmium Chloride | decreases reaction, increases abundance, increases palmitoylation | 1 |
| Magnetite Nanoparticles | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D6SS | WAe001-A-2F | Embryonic stem cell | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autism