CLUH
geneOn this page
Also known as CLU1
Summary
CLUH (CLUH binding protein of NUMT mRNA, HGNC:29094) is a protein-coding gene on chromosome 17p13.3, encoding Clustered mitochondria protein homolog (O75153). mRNA-binding protein involved in proper cytoplasmic distribution of mitochondria.
Enables mRNA binding activity. Involved in intracellular distribution of mitochondria and mitochondrion organization. Located in cytoplasm.
Source: NCBI Gene 23277 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 278 total — 13 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 2
- Druggable target: yes
- MANE Select transcript:
NM_001366661
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29094 |
| Approved symbol | CLUH |
| Name | CLUH binding protein of NUMT mRNA |
| Location | 17p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CLU1 |
| Ensembl gene | ENSG00000132361 |
| Ensembl biotype | protein_coding |
| OMIM | 616184 |
| Entrez | 23277 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 15 protein_coding, 6 retained_intron
ENST00000435359, ENST00000570628, ENST00000571539, ENST00000571566, ENST00000572014, ENST00000572129, ENST00000573641, ENST00000574166, ENST00000574210, ENST00000574426, ENST00000575014, ENST00000575624, ENST00000576309, ENST00000576885, ENST00000651024, ENST00000876316, ENST00000876317, ENST00000876318, ENST00000923739, ENST00000923740, ENST00000923741
RefSeq mRNA: 3 — MANE Select: NM_001366661
NM_001366661, NM_001366662, NM_015229
CCDS: CCDS92220, CCDS92221
Canonical transcript exons
ENST00000651024 — 26 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001366494 | 2703318 | 2703489 |
| ENSE00002669334 | 2696434 | 2696538 |
| ENSE00002816737 | 2701914 | 2702057 |
| ENSE00002833477 | 2701140 | 2701265 |
| ENSE00002855086 | 2696719 | 2696942 |
| ENSE00002864489 | 2700678 | 2700825 |
| ENSE00002881265 | 2701613 | 2701737 |
| ENSE00002893827 | 2701366 | 2701520 |
| ENSE00002898043 | 2697896 | 2698590 |
| ENSE00002945069 | 2695374 | 2695526 |
| ENSE00003469679 | 2704362 | 2704564 |
| ENSE00003673816 | 2700382 | 2700474 |
| ENSE00003703112 | 2694480 | 2694564 |
| ENSE00003704702 | 2692571 | 2692696 |
| ENSE00003705157 | 2694857 | 2695101 |
| ENSE00003705658 | 2692004 | 2692097 |
| ENSE00003705813 | 2692780 | 2692860 |
| ENSE00003705848 | 2692361 | 2692482 |
| ENSE00003707007 | 2693900 | 2694039 |
| ENSE00003707849 | 2691761 | 2691895 |
| ENSE00003709142 | 2694123 | 2694276 |
| ENSE00003709831 | 2696159 | 2696259 |
| ENSE00003710689 | 2695218 | 2695280 |
| ENSE00003788174 | 2691609 | 2691682 |
| ENSE00003844173 | 2711562 | 2711764 |
| ENSE00003845280 | 2689387 | 2690777 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 97.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.7067 / max 281.5528, expressed in 1814 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163837 | 28.3855 | 1810 |
| 163836 | 8.2526 | 1730 |
| 163834 | 0.0687 | 24 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gingival epithelium | UBERON:0001949 | 97.74 | gold quality |
| apex of heart | UBERON:0002098 | 97.66 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.60 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.18 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.10 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.58 | gold quality |
| esophagus mucosa | UBERON:0002469 | 96.43 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.41 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.19 | gold quality |
| muscle of leg | UBERON:0001383 | 96.16 | gold quality |
| transverse colon | UBERON:0001157 | 96.11 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.11 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.10 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.01 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.93 | gold quality |
| adrenal cortex | UBERON:0001235 | 95.86 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.76 | gold quality |
| liver | UBERON:0002107 | 95.66 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.59 | gold quality |
| skin of leg | UBERON:0001511 | 95.49 | gold quality |
| muscle organ | UBERON:0001630 | 95.41 | gold quality |
| body of tongue | UBERON:0011876 | 95.40 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.36 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.29 | gold quality |
| adrenal gland | UBERON:0002369 | 95.28 | gold quality |
| body of pancreas | UBERON:0001150 | 95.27 | gold quality |
| cardiac atrium | UBERON:0002081 | 95.01 | gold quality |
| gingiva | UBERON:0001828 | 94.87 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 94.78 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.66 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.82 |
| E-CURD-53 | no | 385.19 |
| E-MTAB-9689 | no | 136.75 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC
miRNA regulators (miRDB)
64 targeting CLUH, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| 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-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
Literature-anchored findings (GeneRIF, showing 4)
- Here, the authors show that CLUH, a host protein whose cellular function is not well established, plays a key role in the subnuclear transport of influenza virus nucleoprotein. (PMID:27573102)
- CLUH couples mitochondrial distribution to the energetic and metabolic status. (PMID:28424233)
- CLUH granules coordinate translation of mitochondrial proteins with mTORC1 signaling and mitophagy. (PMID:32149416)
- CLUH functions as a negative regulator of inflammation in human macrophages and determines ulcerative colitis pathogenesis. (PMID:37140992)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cluha | ENSDARG00000030913 |
| danio_rerio | cluhb | ENSDARG00000060566 |
| mus_musculus | Cluh | ENSMUSG00000020741 |
| rattus_norvegicus | Cluh | ENSRNOG00000002669 |
| drosophila_melanogaster | clu | FBGN0034087 |
| caenorhabditis_elegans | WBGENE00000550 |
Protein
Protein identifiers
Clustered mitochondria protein homolog — O75153 (reviewed: O75153)
All UniProt accessions (8): O75153, A0A494C0R8, I3L2B0, I3L318, I3L350, I3L3A3, I3L4B5, K7EIG1
UniProt curated annotations — full annotation on UniProt →
Function. mRNA-binding protein involved in proper cytoplasmic distribution of mitochondria. Specifically binds mRNAs of nuclear-encoded mitochondrial proteins in the cytoplasm and regulates transport or translation of these transcripts close to mitochondria, playing a role in mitochondrial biogenesis.
Subcellular location. Cytoplasm. Cytoplasmic granule.
Similarity. Belongs to the CLU family.
RefSeq proteins (3): NP_001353590, NP_001353591, NP_056044 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR023231 | GSKIP_dom_sf | Homologous_superfamily |
| IPR025697 | CLU_dom | Domain |
| IPR027523 | CLU_prot | Family |
| IPR028275 | CLU_N | Domain |
| IPR033646 | CLU-central | Domain |
Pfam: PF12807, PF13236, PF13424, PF15044
UniProt features (27 total): sequence conflict 8, modified residue 5, compositionally biased region 4, repeat 4, region of interest 3, chain 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75153-F1 | 83.11 | 0.59 |
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 (5): 279, 281, 654, 664, 723
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 0 (showing top):
GO Biological Process (3): mitochondrion organization (GO:0007005), intracellular distribution of mitochondria (GO:0048312), organelle organization (GO:0006996)
GO Molecular Function (3): mRNA binding (GO:0003729), RNA binding (GO:0003723), 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 |
|---|---|
| organelle organization | 1 |
| mitochondrion distribution | 1 |
| cellular component organization | 1 |
| RNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1558 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CLUH | FAHD1 | Q6P587 | 608 |
| CLUH | G3BP2 | Q9UN86 | 587 |
| CLUH | COQ6 | Q9Y2Z9 | 498 |
| CLUH | CPT2 | P23786 | 487 |
| CLUH | DRC7 | Q8IY82 | 465 |
| CLUH | COQ3 | Q9NZJ6 | 452 |
| CLUH | CFAP45 | Q9UL16 | 445 |
| CLUH | TOMM20 | Q15388 | 439 |
| CLUH | EIF3G | O75821 | 415 |
| CLUH | PPTC7 | Q8NI37 | 414 |
| CLUH | SERPINB1 | P30740 | 414 |
| CLUH | PRKN | O60260 | 406 |
| CLUH | EIF5 | P55010 | 396 |
| CLUH | ZC3H10 | Q96K80 | 389 |
| CLUH | DLG3 | Q92796 | 387 |
IntAct
117 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARPC3 | ARPC1B | psi-mi:“MI:0914”(association) | 0.880 |
| FECH | PGRMC1 | psi-mi:“MI:0914”(association) | 0.700 |
| MPPED1 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| ARPC3 | ARPC2 | psi-mi:“MI:0914”(association) | 0.640 |
| HDAC11 | CLUH | psi-mi:“MI:0914”(association) | 0.640 |
| MPPED1 | CLUH | psi-mi:“MI:0914”(association) | 0.640 |
| IFT57 | IFT56 | psi-mi:“MI:0914”(association) | 0.640 |
| COA8 | CLUH | psi-mi:“MI:0915”(physical association) | 0.590 |
| TRAPPC2L | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.560 |
| WDR37 | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
| MOS | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
| PMPCA | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
| DCAF4L2 | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
| DCAF4 | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
| THOC3 | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
| TEKT3 | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
| PINK1 | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
| ZAR1L | BCL2L11 | psi-mi:“MI:0914”(association) | 0.530 |
| NIPSNAP3A | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (200): CLUH (Affinity Capture-MS), CLUH (Affinity Capture-MS), CLUH (Affinity Capture-MS), CLUH (Affinity Capture-MS), CLUH (Affinity Capture-MS), CLUH (Affinity Capture-MS), CLUH (Affinity Capture-MS), CLUH (Affinity Capture-MS), CLUH (Affinity Capture-MS), CLUH (Affinity Capture-MS), ABCF2 (Co-fractionation), CLUH (Co-fractionation), CLUH (Co-fractionation), DYNC1LI1 (Co-fractionation), DYNC1LI2 (Co-fractionation)
ESM2 similar proteins: A0JMD0, A1A535, A1ZAB5, A2AIV2, A8E7C5, A8PJX4, A8XAA9, B0W2S0, B3MIW0, B3NPV8, B4GAM1, B4JW99, B4KT50, B4LQ23, B4MY63, B4P6P7, D3YVL2, E9PXF8, F4HS99, F4HZK4, F4J5S1, F4JKH6, O60502, O75153, O88379, P34466, P69735, Q0IHW8, Q0VA04, Q15042, Q17N71, Q291J5, Q5PQS3, Q5SW19, Q5TYW4, Q5U430, Q69YN4, Q6NTN5, Q6ZT12, Q7PZD5
Diamond homologs: A0JMD0, A1ZAB5, A8PJX4, A8XAA9, B0W2S0, B3MIW0, B3NPV8, B4GAM1, B4JW99, B4KT50, B4LQ23, B4MY63, B4P6P7, O75153, P0C7X3, P34466, Q0IHW8, Q17N71, Q291J5, Q5SW19, Q7PZD5, A1CKI4, A1D6Y7, A2QDB9, A3GG12, A4R962, A5DLU8, A5DWP3, A6R8I2, A6SFG0, A7ENU3, A8QA64, B0XXS1, B5RSP9, O59742, P0CR86, P0CR87, Q0CNX5, Q0U0H7, Q1E101
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
278 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 13 |
| Likely pathogenic | 2 |
| Uncertain significance | 208 |
| Likely benign | 12 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (15)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1403973 | NC_000017.10:g.(?2541583)(3819519_?)del | Pathogenic |
| 1807811 | GRCh37/hg19 17p13.3(chr17:2161424-2825460)x1 | Pathogenic |
| 253440 | GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1 | Pathogenic |
| 3063527 | GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1 | Pathogenic |
| 394497 | GRCh37/hg19 17p13.3(chr17:1936753-2901448)x1 | Pathogenic |
| 4083495 | GRCh37/hg19 17p13.3(chr17:2568666-2598574)x1 | Pathogenic |
| 4279136 | GRCh37/hg19 17p13.3(chr17:2388126-2886447)x1 | Pathogenic |
| 4279416 | GRCh37/hg19 17p13.3-13.2(chr17:2402229-3322885)x1 | Pathogenic |
| 443283 | GRCh37/hg19 17p13.3(chr17:1997443-2825460)x1 | Pathogenic |
| 4682911 | GRCh37/hg19 17p13.3(chr17:2316531-2972634)x1 | Pathogenic |
| 523261 | GRCh37/hg19 17p13.3(chr17:2339561-2826073) | Pathogenic |
| 686828 | GRCh37/hg19 17p13.3(chr17:2172709-2646895)x1 | Pathogenic |
| 687701 | GRCh37/hg19 17p13.3(chr17:1501331-2832123)x3 | Pathogenic |
| 442715 | GRCh37/hg19 17p13.3(chr17:2213316-2901583)x3 | Likely pathogenic |
| 983494 | NC_000017.11:g.2688360_2784321del | Likely pathogenic |
SpliceAI
3864 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:2691603:CCTCA:C | donor_loss | 1.0000 |
| 17:2691606:CACCT:C | donor_loss | 1.0000 |
| 17:2691607:A:C | donor_loss | 1.0000 |
| 17:2691608:C:A | donor_loss | 1.0000 |
| 17:2691679:TGAA:T | acceptor_gain | 1.0000 |
| 17:2691682:AC:A | acceptor_loss | 1.0000 |
| 17:2691683:C:CC | acceptor_gain | 1.0000 |
| 17:2691684:T:G | acceptor_loss | 1.0000 |
| 17:2691756:CTCA:C | donor_loss | 1.0000 |
| 17:2691757:TCA:T | donor_loss | 1.0000 |
| 17:2691758:CACCT:C | donor_loss | 1.0000 |
| 17:2691759:A:AC | donor_gain | 1.0000 |
| 17:2691759:ACCT:A | donor_loss | 1.0000 |
| 17:2691760:C:CC | donor_gain | 1.0000 |
| 17:2691891:CCCAG:C | acceptor_gain | 1.0000 |
| 17:2691892:CCAG:C | acceptor_gain | 1.0000 |
| 17:2691892:CCAGC:C | acceptor_gain | 1.0000 |
| 17:2691893:CAG:C | acceptor_gain | 1.0000 |
| 17:2691893:CAGC:C | acceptor_gain | 1.0000 |
| 17:2691894:AG:A | acceptor_gain | 1.0000 |
| 17:2691894:AGC:A | acceptor_loss | 1.0000 |
| 17:2691896:C:CC | acceptor_gain | 1.0000 |
| 17:2691896:CT:C | acceptor_loss | 1.0000 |
| 17:2691899:C:CT | acceptor_gain | 1.0000 |
| 17:2691900:G:T | acceptor_gain | 1.0000 |
| 17:2691999:CGCA:C | donor_loss | 1.0000 |
| 17:2692000:GCAC:G | donor_loss | 1.0000 |
| 17:2692001:CA:C | donor_loss | 1.0000 |
| 17:2692002:A:AT | donor_loss | 1.0000 |
| 17:2692003:CCTG:C | donor_gain | 1.0000 |
AlphaMissense
8868 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:2691645:A:G | L1237P | 1.000 |
| 17:2691816:C:G | R1206P | 1.000 |
| 17:2691822:A:G | L1204P | 1.000 |
| 17:2691831:G:T | A1201D | 1.000 |
| 17:2691843:A:G | L1197P | 1.000 |
| 17:2691852:A:G | L1194P | 1.000 |
| 17:2692044:A:G | L1166P | 1.000 |
| 17:2692047:G:T | A1165D | 1.000 |
| 17:2692055:G:C | F1162L | 1.000 |
| 17:2692055:G:T | F1162L | 1.000 |
| 17:2692057:A:G | F1162L | 1.000 |
| 17:2692083:G:T | A1153D | 1.000 |
| 17:2692463:A:G | L1114P | 1.000 |
| 17:2692472:C:T | G1111E | 1.000 |
| 17:2692473:C:A | G1111W | 1.000 |
| 17:2694144:C:A | G985W | 1.000 |
| 17:2698064:C:G | R560P | 1.000 |
| 17:2698065:G:T | R560S | 1.000 |
| 17:2698070:T:A | D558V | 1.000 |
| 17:2698070:T:G | D558A | 1.000 |
| 17:2698071:C:G | D558H | 1.000 |
| 17:2698076:C:A | G556V | 1.000 |
| 17:2698076:C:T | G556D | 1.000 |
| 17:2698077:C:G | G556R | 1.000 |
| 17:2698082:A:C | I554S | 1.000 |
| 17:2698082:A:G | I554T | 1.000 |
| 17:2698082:A:T | I554N | 1.000 |
| 17:2698085:C:T | G553D | 1.000 |
| 17:2698086:C:G | G553R | 1.000 |
| 17:2698087:C:A | K552N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000035942 (17:2713393 G>A), RS1000085486 (17:2707903 C>T), RS1000086913 (17:2704321 A>C,G), RS1000138141 (17:2708028 C>T), RS1000544959 (17:2692257 T>C,G), RS1000636047 (17:2695886 C>G,T), RS1000664700 (17:2690832 C>T), RS1000686102 (17:2696346 GA>G), RS1000688344 (17:2709264 G>A), RS1000721546 (17:2691062 C>A,G,T), RS1000857023 (17:2700568 C>G), RS1000973148 (17:2703216 C>T), RS1001014981 (17:2705186 G>A), RS1001026488 (17:2698635 G>A,C), RS1001075553 (17:2698712 C>G,T)
Disease associations
OMIM: gene MIM:616184 | disease phenotypes: MIM:142623, MIM:607432, MIM:615656
GenCC curated gene-disease
Mondo (7): Hirschsprung disease, susceptibility to, 1 (MONDO:0007723), lissencephaly due to LIS1 mutation (MONDO:0011830), microcephaly (MONDO:0001149), strabismus (MONDO:0003432), pathologic nystagmus (MONDO:0004843), lissencephaly spectrum disorders (MONDO:0018838), chromosome 15q11.2 deletion syndrome (MONDO:0014294)
Orphanet (4): Hirschsprung disease (Orphanet:388), Lissencephaly due to LIS1 mutation (Orphanet:95232), Lissencephaly (Orphanet:48471), 15q11.2 microdeletion syndrome (Orphanet:261183)
HPO phenotypes
2 total (2 of 2 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000252 | Microcephaly |
| HP:0001339 | Lissencephaly |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002404_347 | Red cell distribution width | 2.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009188 | Red cell distribution width |
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D054082 | Lissencephaly | C10.500.507.450.499; C16.131.666.507.450.499 |
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
| D009759 | Nystagmus, Pathologic | C10.292.562.675; C11.590.400 |
| D013285 | Strabismus | C10.292.562.887; C11.590.810 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295673 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 4 |
| perfluoro-n-nonanoic acid | decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Estradiol | increases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| dicrotophos | increases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| beta-lapachone | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| methacrylaldehyde | decreases expression, increases abundance, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| NSC 689534 | decreases expression, affects binding | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acrolein | increases abundance, affects cotreatment, decreases expression | 1 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 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 |
|---|---|---|---|
| CHEMBL4118616 | Binding | Binding affinity to CLUH in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2UI | Abcam HEK293T CLUH KO | Transformed cell line | Female |
Clinical trials (associated diseases)
167 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02343562 | PHASE4 | UNKNOWN | Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis |
| NCT07186647 | PHASE4 | COMPLETED | Laparoscopic-Assisted Transanal Pull-Through for Hirschsprung Disease in Pediatric:Short and Intermediate Outcomes of Two Different Techniques |
| NCT00461656 | PHASE4 | COMPLETED | Povidone-iodine Antisepsis for Strabismus Surgery |
| NCT01901588 | PHASE4 | COMPLETED | Efficacy of Single-Shot Dexmedetomidine Versus Placebo in Preventing Pediatric Emergence Delirium in Strabismus Surgery |
| NCT02379546 | PHASE4 | COMPLETED | The Effect of Anaesthesia Depth on Oculo-cardiac Reflex |
| NCT03349515 | PHASE4 | COMPLETED | The Effect of Povidone-iodine Ophthalmic Surgical Prep Solution on Respiration in Children Undergoing Strabismus Surgery With General Anesthesia. |
| NCT04549844 | PHASE4 | UNKNOWN | Peribulbar Block for Prevention of Oculocardiac Reflex |
| NCT06035757 | PHASE4 | RECRUITING | The Occurrence of Emergence Agitation in Pediatric Strabismus Surgery |
| NCT06560268 | PHASE4 | NOT_YET_RECRUITING | Low Flow Anesthesia in Children Undergoing Strabismus Surgery |
| NCT04904081 | PHASE3 | UNKNOWN | Feasibility of Use of Indocyanine Green in Pediatric Colorectal Surgery |
| NCT00000128 | PHASE3 | UNKNOWN | A Trial of Bifocals in Myopic Children With Esophoria |
| NCT00001864 | PHASE3 | COMPLETED | Amblyopia (Lazy Eye) Treatment Study |
| NCT00038753 | PHASE3 | UNKNOWN | Vision In Preschoolers Study (VIP Study) |
| NCT01584843 | PHASE3 | COMPLETED | Efficacy and Safety of GSK1358820 (Botulinum Toxin Type A) in Patients With Strabismus |
| NCT04060771 | PHASE3 | UNKNOWN | Post-Operative Nausea and Vomiting in Children Submitted to Strabismus Surgery |
| NCT06863675 | PHASE3 | NOT_YET_RECRUITING | Highly Aspherical Lenslet (HAL) and Binocular Vision (BV) Disorders [HALT X(T) Study] |
| NCT00630838 | PHASE2 | COMPLETED | Probiotic Prophylaxis of Hirschprung’s Disease Associated Enterocolitis (HAEC) |
| NCT00478907 | PHASE2 | COMPLETED | Prevention of Complications of Eye Surgery |
| NCT06689943 | PHASE2 | NOT_YET_RECRUITING | Pain After Strabismus Surgery |
| NCT00917982 | PHASE1 | UNKNOWN | The Effect of Vision Therapy/Orthoptic on Motor & Sensory Status of the 3 to 7 Years Old Strabismic Patients |
| NCT02246556 | PHASE1 | TERMINATED | Dichoptic Virtual Reality Therapy for Amblyopia in Adults |
| NCT01985646 | EARLY_PHASE1 | COMPLETED | A Trial on Conservative Treatment for Infants’ Hirschsprung Disease |
| NCT00478712 | Not specified | RECRUITING | Hirschsprung Disease Genetic Study |
| NCT01515501 | Not specified | COMPLETED | Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial) |
| NCT01793168 | Not specified | RECRUITING | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford |
| NCT01927809 | Not specified | UNKNOWN | Genetic Mosaicism in Hirschsprung’s Disease |
| NCT02193685 | Not specified | UNKNOWN | Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease |
| NCT02216994 | Not specified | UNKNOWN | A New Scoring System Improves Diagnostic Accuracy of Intestinal Dysganglionosis –a Prospective Study |
| NCT02296008 | Not specified | COMPLETED | 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders |
| NCT02776176 | Not specified | UNKNOWN | Enhanced Recovery After Surgery In Hirschsprung Disease |
| NCT02857205 | Not specified | COMPLETED | MICROPRUNG : Intestinal Microbiota Analysis in Patients With or Without Hirschsprung’s Associated EnteroColitis |
| NCT03269812 | Not specified | UNKNOWN | Laparoscopic Assisted Pull-through Versus Other Surgical Procedures for Treatment of Hirschsprung Disease |
| NCT03666767 | Not specified | COMPLETED | Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries |
| NCT04020939 | Not specified | COMPLETED | The Role of Indocyanine Green Angiography Fluorescence on Intestinal Resections in Pediatric Surgery. |
| NCT04106947 | Not specified | UNKNOWN | Transition of Care for Patients With Hirschsprung Disease and Anorectal Malformations |
| NCT04149093 | Not specified | UNKNOWN | The Association Between Calretinin and the Function of Ganglion Cells in Hirschsprung Disease |
| NCT04150120 | Not specified | COMPLETED | eHealth as an Aid for Facilitating and Supporting Self-management in Families With Long-term Childhood Illness |
| NCT04213976 | Not specified | UNKNOWN | Ostomy in Continuity or Conventional Ileostomy: a Retrospective Multicentric Analysis |
| NCT04476225 | Not specified | COMPLETED | Induced Pluripotent Stem Cells for Disease Research |
| NCT04598841 | Not specified | COMPLETED | Nutrition Support for Hirschsprung Disease |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chromosome 15q11.2 deletion syndrome, Hirschsprung disease, susceptibility to, 1, lissencephaly due to LIS1 mutation, lissencephaly spectrum disorders, pathologic nystagmus, strabismus