MAPK1IP1L
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Summary
MAPK1IP1L (mitogen-activated protein kinase 1 interacting protein 1 like, HGNC:19840) is a protein-coding gene on chromosome 14q22.3, encoding MAPK-interacting and spindle-stabilizing protein-like (Q8NDC0).
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 46 total
- MANE Select transcript:
NM_144578
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19840 |
| Approved symbol | MAPK1IP1L |
| Name | mitogen-activated protein kinase 1 interacting protein 1 like |
| Location | 14q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000168175 |
| Ensembl biotype | protein_coding |
| OMIM | 617226 |
| Entrez | 93487 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000395468, ENST00000553976, ENST00000554364, ENST00000556515, ENST00000866725, ENST00000866726, ENST00000969129, ENST00000969130, ENST00000969131, ENST00000969132
RefSeq mRNA: 1 — MANE Select: NM_144578
NM_144578
CCDS: CCDS32085
Canonical transcript exons
ENST00000395468 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001147454 | 55062618 | 55063325 |
| ENSE00001490330 | 55064616 | 55070194 |
| ENSE00001521801 | 55051647 | 55051803 |
| ENSE00001646561 | 55061680 | 55061701 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 180.0837 / max 1732.8054, expressed in 1828 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 139688 | 173.4523 | 1826 |
| 139689 | 4.3169 | 1637 |
| 139696 | 1.1118 | 629 |
| 139694 | 0.6691 | 333 |
| 139693 | 0.5336 | 221 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cauda epididymis | UBERON:0004360 | 99.41 | gold quality |
| caput epididymis | UBERON:0004358 | 99.27 | gold quality |
| corpus epididymis | UBERON:0004359 | 99.12 | gold quality |
| parotid gland | UBERON:0001831 | 98.96 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 98.88 | gold quality |
| renal medulla | UBERON:0000362 | 98.80 | gold quality |
| hair follicle | UBERON:0002073 | 98.79 | gold quality |
| cartilage tissue | UBERON:0002418 | 98.68 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 98.67 | gold quality |
| nipple | UBERON:0002030 | 98.63 | gold quality |
| vena cava | UBERON:0004087 | 98.62 | gold quality |
| nephron tubule | UBERON:0001231 | 98.60 | gold quality |
| mammary duct | UBERON:0001765 | 98.60 | gold quality |
| cranial nerve II | UBERON:0000941 | 98.55 | gold quality |
| pylorus | UBERON:0001166 | 98.51 | gold quality |
| superior surface of tongue | UBERON:0007371 | 98.46 | gold quality |
| saphenous vein | UBERON:0007318 | 98.44 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 98.40 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 98.35 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.31 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.29 | gold quality |
| cardia of stomach | UBERON:0001162 | 98.17 | gold quality |
| pericardium | UBERON:0002407 | 98.13 | gold quality |
| amniotic fluid | UBERON:0000173 | 98.12 | gold quality |
| tongue | UBERON:0001723 | 98.03 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 98.03 | gold quality |
| adult organism | UBERON:0007023 | 98.03 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.00 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 97.98 | gold quality |
| renal glomerulus | UBERON:0000074 | 97.92 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6075 | no | 1310.61 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
227 targeting MAPK1IP1L, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| 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-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Mapk1ip1l | ENSMUSG00000021840 |
| mus_musculus | Mapk1ip1 | ENSMUSG00000041775 |
| rattus_norvegicus | Mapk1ip1 | ENSRNOG00000016935 |
| rattus_norvegicus | ENSRNOG00000077396 |
Protein
Protein identifiers
MAPK-interacting and spindle-stabilizing protein-like — Q8NDC0 (reviewed: Q8NDC0)
Alternative names: Mitogen-activated protein kinase 1-interacting protein 1-like
All UniProt accessions (1): Q8NDC0
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the MISS family.
RefSeq proteins (1): NP_653179* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR031653 | MISS | Family |
Pfam: PF15822
UniProt features (12 total): compositionally biased region 5, modified residue 4, initiator methionine 1, chain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NDC0-F1 | 51.99 | 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): 6, 15, 2, 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 154 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, AAGCAAT_MIR137, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TACAATC_MIR508, CTATGCA_MIR153, GGGCATT_MIR365, WANG_LMO4_TARGETS_DN, AAAGACA_MIR511, TIEN_INTESTINE_PROBIOTICS_24HR_UP, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, DOUGLAS_BMI1_TARGETS_UP, ZHENG_GLIOBLASTOMA_PLASTICITY_UP, HSF2_01, LIU_NASOPHARYNGEAL_CARCINOMA, HSF1_01
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
Protein interactions and networks
STRING
1527 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAPK1IP1L | RAB15 | P59190 | 567 |
| MAPK1IP1L | RAB33B | Q9H082 | 547 |
| MAPK1IP1L | PM20D2 | Q8IYS1 | 520 |
| MAPK1IP1L | ANAPC16 | Q96DE5 | 477 |
| MAPK1IP1L | BTF3L4 | Q96K17 | 423 |
| MAPK1IP1L | ERVMER34-1 | Q9H9K5 | 407 |
| MAPK1IP1L | MAP7D2 | Q96T17 | 399 |
| MAPK1IP1L | PPP4R4 | Q6NUP7 | 397 |
| MAPK1IP1L | INTS5 | Q6P9B9 | 395 |
| MAPK1IP1L | SPACA1 | Q9HBV2 | 369 |
| MAPK1IP1L | GTF2H3 | Q13889 | 369 |
| MAPK1IP1L | SYNDIG1L | A6NDD5 | 362 |
| MAPK1IP1L | STARD5 | P59094 | 355 |
| MAPK1IP1L | EOLA1 | Q8TE69 | 349 |
| MAPK1IP1L | ARB2A | Q8WUF8 | 345 |
IntAct
120 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAPK1IP1L | C1orf94 | psi-mi:“MI:0915”(physical association) | 0.750 |
| C1orf94 | MAPK1IP1L | psi-mi:“MI:0915”(physical association) | 0.750 |
| MAPK1IP1L | EWSR1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| EWSR1 | MAPK1IP1L | psi-mi:“MI:0915”(physical association) | 0.740 |
| MAPK1IP1L | VPS37C | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAPK1IP1L | HGS | psi-mi:“MI:0915”(physical association) | 0.720 |
| UBE2I | MAPK1IP1L | psi-mi:“MI:0915”(physical association) | 0.720 |
| TFG | MAPK1IP1L | psi-mi:“MI:0915”(physical association) | 0.720 |
| VPS37C | MAPK1IP1L | psi-mi:“MI:0915”(physical association) | 0.720 |
| HGS | MAPK1IP1L | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAPK1IP1L | UBE2I | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAPK1IP1L | TFG | psi-mi:“MI:0915”(physical association) | 0.720 |
| LENG8 | MAPK1IP1L | psi-mi:“MI:0915”(physical association) | 0.700 |
BioGRID (62): MAPK1IP1L (Two-hybrid), MAPK1IP1L (Two-hybrid), MAPK1IP1L (Two-hybrid), MAPK1IP1L (Two-hybrid), MAPK1IP1L (Two-hybrid), MAPK1IP1L (Two-hybrid), MAPK1IP1L (Two-hybrid), MAPK1IP1L (Two-hybrid), MAPK1IP1L (Two-hybrid), MAPK1IP1L (Two-hybrid), MAPK1IP1L (Two-hybrid), MAPK1IP1L (Two-hybrid), MAPK1IP1L (Two-hybrid), SUMO1P1 (Two-hybrid), MAPK1IP1L (Two-hybrid)
ESM2 similar proteins: A5PJN8, B1AYB6, B2RWS6, B2RYL1, C7EMF5, F4I171, O48582, O55196, O75157, P0CG10, P0CG12, P0CG14, P18583, P45481, P49750, P62500, P62501, Q09472, Q10571, Q14686, Q148B6, Q15428, Q29W20, Q32KG4, Q3HS82, Q4R837, Q5E9L3, Q5ISE2, Q5JT82, Q5PRE5, Q5R623, Q62203, Q66IN2, Q6JHU9, Q6UX39, Q76KD6, Q86XN7, Q8BH93, Q8NDC0, Q91012
Diamond homologs: Q4R837, Q5E9L3, Q5R623, Q8BH93, Q8NDC0, Q9D7G9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 37 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
982 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:55062616:A:AG | acceptor_gain | 1.0000 |
| 14:55062617:G:GG | acceptor_gain | 1.0000 |
| 14:55064789:T:TA | donor_gain | 1.0000 |
| 14:55064790:A:AA | donor_gain | 1.0000 |
| 14:55051799:GCCGG:G | donor_gain | 0.9900 |
| 14:55051802:GG:G | donor_gain | 0.9900 |
| 14:55051803:GG:G | donor_gain | 0.9900 |
| 14:55061700:CGGTA:C | donor_loss | 0.9900 |
| 14:55061701:GGT:G | donor_loss | 0.9900 |
| 14:55061702:G:GG | donor_gain | 0.9900 |
| 14:55061702:GTAA:G | donor_loss | 0.9900 |
| 14:55061703:T:A | donor_loss | 0.9900 |
| 14:55062614:CCA:C | acceptor_loss | 0.9900 |
| 14:55062616:AGTT:A | acceptor_gain | 0.9900 |
| 14:55062617:GTT:G | acceptor_gain | 0.9900 |
| 14:55062617:GTTG:G | acceptor_gain | 0.9900 |
| 14:55062808:G:GT | donor_gain | 0.9900 |
| 14:55062809:A:T | donor_gain | 0.9900 |
| 14:55062897:G:GA | donor_gain | 0.9900 |
| 14:55063326:G:GG | donor_gain | 0.9900 |
| 14:55064614:A:AG | acceptor_gain | 0.9900 |
| 14:55064615:G:GG | acceptor_gain | 0.9900 |
| 14:55064664:G:GT | donor_gain | 0.9900 |
| 14:55064763:A:G | donor_gain | 0.9900 |
| 14:55064825:G:GT | donor_gain | 0.9900 |
| 14:55051804:G:GG | donor_gain | 0.9800 |
| 14:55051804:GT:G | donor_loss | 0.9800 |
| 14:55051827:G:GT | donor_gain | 0.9800 |
| 14:55051960:GAC:G | donor_gain | 0.9800 |
| 14:55053811:G:GT | donor_gain | 0.9800 |
AlphaMissense
1517 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:55061696:T:C | F5L | 0.990 |
| 14:55061698:T:A | F5L | 0.990 |
| 14:55061698:T:G | F5L | 0.990 |
| 14:55063194:T:A | W199R | 0.975 |
| 14:55063194:T:C | W199R | 0.975 |
| 14:55063196:G:C | W199C | 0.961 |
| 14:55063196:G:T | W199C | 0.961 |
| 14:55062619:T:C | L7S | 0.957 |
| 14:55061697:T:C | F5S | 0.951 |
| 14:55062789:T:C | F64L | 0.950 |
| 14:55062791:T:A | F64L | 0.950 |
| 14:55062791:T:G | F64L | 0.950 |
| 14:55061697:T:G | F5C | 0.949 |
| 14:55063272:T:C | F225L | 0.942 |
| 14:55063274:C:A | F225L | 0.942 |
| 14:55063274:C:G | F225L | 0.942 |
| 14:55063056:T:A | W153R | 0.941 |
| 14:55063056:T:C | W153R | 0.941 |
| 14:55063180:T:A | V194D | 0.937 |
| 14:55063058:G:C | W153C | 0.926 |
| 14:55063058:G:T | W153C | 0.926 |
| 14:55063172:G:C | W191C | 0.919 |
| 14:55063172:G:T | W191C | 0.919 |
| 14:55062861:T:C | F88L | 0.906 |
| 14:55062863:T:A | F88L | 0.906 |
| 14:55062863:T:G | F88L | 0.906 |
| 14:55062959:T:A | N120K | 0.899 |
| 14:55062959:T:G | N120K | 0.899 |
| 14:55063034:G:C | W145C | 0.897 |
| 14:55063034:G:T | W145C | 0.897 |
dbSNP variants (sampled 300 via entrez): RS1000195504 (14:55053163 A>G), RS1000926357 (14:55051870 C>T), RS1001051329 (14:55068125 T>C), RS1001069852 (14:55052109 C>T), RS1001126252 (14:55062029 A>G), RS1001408403 (14:55051170 T>C), RS1001533331 (14:55057307 G>T), RS1001663983 (14:55061154 C>CA), RS1001913667 (14:55054854 T>C), RS1001976862 (14:55056035 C>A,T), RS1002054 (14:55062195 A>C,T), RS1002239076 (14:55051457 G>A,C,T), RS1002398005 (14:55056809 A>G), RS1002414990 (14:55062319 A>C,G), RS1002578125 (14:55050037 T>C)
Disease associations
OMIM: gene MIM:617226 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008595_84 | Cognitive ability, years of educational attainment or schizophrenia (pleiotropy) | 3.000000e-08 |
| GCST010676_4 | Leukoderma in response to rhododendrol | 9.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004337 | intelligence |
| EFO:0004784 | self reported educational attainment |
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 |
|---|---|---|
| Cisplatin | increases expression, affects cotreatment, decreases expression | 3 |
| bisphenol A | decreases expression, affects cotreatment, decreases methylation | 2 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| diethyl maleate | increases expression | 1 |
| sodium arsenite | increases abundance, affects cotreatment, decreases expression | 1 |
| deguelin | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | increases phosphorylation | 1 |
| Hydrogen Peroxide | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Dronabinol | increases expression | 1 |
| Theophylline | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
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): vitiligo