MAPK1IP1L

gene
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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

FieldValue
HGNC IDHGNC:19840
Approved symbolMAPK1IP1L
Namemitogen-activated protein kinase 1 interacting protein 1 like
Location14q22.3
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000168175
Ensembl biotypeprotein_coding
OMIM617226
Entrez93487

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

ExonStartEnd
ENSE000011474545506261855063325
ENSE000014903305506461655070194
ENSE000015218015505164755051803
ENSE000016465615506168055061701

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 IDTPM avgSamples expressed
139688173.45231826
1396894.31691637
1396961.1118629
1396940.6691333
1396930.5336221

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
cauda epididymisUBERON:000436099.41gold quality
caput epididymisUBERON:000435899.27gold quality
corpus epididymisUBERON:000435999.12gold quality
parotid glandUBERON:000183198.96gold quality
mucosa of sigmoid colonUBERON:000499398.88gold quality
renal medullaUBERON:000036298.80gold quality
hair follicleUBERON:000207398.79gold quality
cartilage tissueUBERON:000241898.68gold quality
cervix squamous epitheliumUBERON:000692298.67gold quality
nippleUBERON:000203098.63gold quality
vena cavaUBERON:000408798.62gold quality
nephron tubuleUBERON:000123198.60gold quality
mammary ductUBERON:000176598.60gold quality
cranial nerve IIUBERON:000094198.55gold quality
pylorusUBERON:000116698.51gold quality
superior surface of tongueUBERON:000737198.46gold quality
saphenous veinUBERON:000731898.44gold quality
epithelium of mammary glandUBERON:000324498.40gold quality
pharyngeal mucosaUBERON:000035598.35gold quality
colonic mucosaUBERON:000031798.31gold quality
heart right ventricleUBERON:000208098.29gold quality
cardia of stomachUBERON:000116298.17gold quality
pericardiumUBERON:000240798.13gold quality
amniotic fluidUBERON:000017398.12gold quality
tongueUBERON:000172398.03gold quality
trabecular bone tissueUBERON:000248398.03gold quality
adult organismUBERON:000702398.03gold quality
tongue squamous epitheliumUBERON:000691998.00gold quality
pigmented layer of retinaUBERON:000178297.98gold quality
renal glomerulusUBERON:000007497.92gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-MTAB-6075no1310.61
E-ANND-3no0.00

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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-4262100.0073.263931
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-3163100.0077.238605
HSA-MIR-4455100.0065.481587
HSA-MIR-126-5P100.0072.713180
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-186-5P99.9970.833707
HSA-MIR-366299.9973.825684
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-428299.9975.366408
HSA-MIR-3667-3P99.9967.171636
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-1213699.9872.815713
HSA-MIR-548P99.9872.253784
HSA-MIR-56899.9869.862084
HSA-MIR-3065-5P99.9771.563281

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
mus_musculusMapk1ip1lENSMUSG00000021840
mus_musculusMapk1ip1ENSMUSG00000041775
rattus_norvegicusMapk1ip1ENSRNOG00000016935
rattus_norvegicusENSRNOG00000077396

Protein

Protein identifiers

MAPK-interacting and spindle-stabilizing protein-likeQ8NDC0 (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)

IDNameType
IPR031653MISSFamily

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)

ModelpLDDTFraction very-high
AF-Q8NDC0-F151.990.00

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:

CategoryTerms
binding1

Protein interactions and networks

STRING

1527 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MAPK1IP1LRAB15P59190567
MAPK1IP1LRAB33BQ9H082547
MAPK1IP1LPM20D2Q8IYS1520
MAPK1IP1LANAPC16Q96DE5477
MAPK1IP1LBTF3L4Q96K17423
MAPK1IP1LERVMER34-1Q9H9K5407
MAPK1IP1LMAP7D2Q96T17399
MAPK1IP1LPPP4R4Q6NUP7397
MAPK1IP1LINTS5Q6P9B9395
MAPK1IP1LSPACA1Q9HBV2369
MAPK1IP1LGTF2H3Q13889369
MAPK1IP1LSYNDIG1LA6NDD5362
MAPK1IP1LSTARD5P59094355
MAPK1IP1LEOLA1Q8TE69349
MAPK1IP1LARB2AQ8WUF8345

IntAct

120 interactions, top by confidence:

ABTypeScore
MAPK1IP1LC1orf94psi-mi:“MI:0915”(physical association)0.750
C1orf94MAPK1IP1Lpsi-mi:“MI:0915”(physical association)0.750
MAPK1IP1LEWSR1psi-mi:“MI:0915”(physical association)0.740
EWSR1MAPK1IP1Lpsi-mi:“MI:0915”(physical association)0.740
MAPK1IP1LVPS37Cpsi-mi:“MI:0915”(physical association)0.720
MAPK1IP1LHGSpsi-mi:“MI:0915”(physical association)0.720
UBE2IMAPK1IP1Lpsi-mi:“MI:0915”(physical association)0.720
TFGMAPK1IP1Lpsi-mi:“MI:0915”(physical association)0.720
VPS37CMAPK1IP1Lpsi-mi:“MI:0915”(physical association)0.720
HGSMAPK1IP1Lpsi-mi:“MI:0915”(physical association)0.720
MAPK1IP1LUBE2Ipsi-mi:“MI:0915”(physical association)0.720
MAPK1IP1LTFGpsi-mi:“MI:0915”(physical association)0.720
LENG8MAPK1IP1Lpsi-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):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance37
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

982 predictions. Top by Δscore:

VariantEffectΔscore
14:55062616:A:AGacceptor_gain1.0000
14:55062617:G:GGacceptor_gain1.0000
14:55064789:T:TAdonor_gain1.0000
14:55064790:A:AAdonor_gain1.0000
14:55051799:GCCGG:Gdonor_gain0.9900
14:55051802:GG:Gdonor_gain0.9900
14:55051803:GG:Gdonor_gain0.9900
14:55061700:CGGTA:Cdonor_loss0.9900
14:55061701:GGT:Gdonor_loss0.9900
14:55061702:G:GGdonor_gain0.9900
14:55061702:GTAA:Gdonor_loss0.9900
14:55061703:T:Adonor_loss0.9900
14:55062614:CCA:Cacceptor_loss0.9900
14:55062616:AGTT:Aacceptor_gain0.9900
14:55062617:GTT:Gacceptor_gain0.9900
14:55062617:GTTG:Gacceptor_gain0.9900
14:55062808:G:GTdonor_gain0.9900
14:55062809:A:Tdonor_gain0.9900
14:55062897:G:GAdonor_gain0.9900
14:55063326:G:GGdonor_gain0.9900
14:55064614:A:AGacceptor_gain0.9900
14:55064615:G:GGacceptor_gain0.9900
14:55064664:G:GTdonor_gain0.9900
14:55064763:A:Gdonor_gain0.9900
14:55064825:G:GTdonor_gain0.9900
14:55051804:G:GGdonor_gain0.9800
14:55051804:GT:Gdonor_loss0.9800
14:55051827:G:GTdonor_gain0.9800
14:55051960:GAC:Gdonor_gain0.9800
14:55053811:G:GTdonor_gain0.9800

AlphaMissense

1517 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
14:55061696:T:CF5L0.990
14:55061698:T:AF5L0.990
14:55061698:T:GF5L0.990
14:55063194:T:AW199R0.975
14:55063194:T:CW199R0.975
14:55063196:G:CW199C0.961
14:55063196:G:TW199C0.961
14:55062619:T:CL7S0.957
14:55061697:T:CF5S0.951
14:55062789:T:CF64L0.950
14:55062791:T:AF64L0.950
14:55062791:T:GF64L0.950
14:55061697:T:GF5C0.949
14:55063272:T:CF225L0.942
14:55063274:C:AF225L0.942
14:55063274:C:GF225L0.942
14:55063056:T:AW153R0.941
14:55063056:T:CW153R0.941
14:55063180:T:AV194D0.937
14:55063058:G:CW153C0.926
14:55063058:G:TW153C0.926
14:55063172:G:CW191C0.919
14:55063172:G:TW191C0.919
14:55062861:T:CF88L0.906
14:55062863:T:AF88L0.906
14:55062863:T:GF88L0.906
14:55062959:T:AN120K0.899
14:55062959:T:GN120K0.899
14:55063034:G:CW145C0.897
14:55063034:G:TW145C0.897

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):

StudyTraitp-value
GCST008595_84Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)3.000000e-08
GCST010676_4Leukoderma in response to rhododendrol9.000000e-06

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004337intelligence
EFO:0004784self 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.

ChemicalActions (top 5)PubMed papers
Cisplatinincreases expression, affects cotreatment, decreases expression3
bisphenol Adecreases expression, affects cotreatment, decreases methylation2
Cadmium Chloridedecreases expression, increases abundance2
aristolochic acid Idecreases expression1
FR900359decreases phosphorylation1
dicrotophosincreases expression1
triphenyl phosphateaffects expression1
diethyl maleateincreases expression1
sodium arseniteincreases abundance, affects cotreatment, decreases expression1
deguelinincreases expression1
jinfukangaffects cotreatment, decreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Acetaminophenincreases expression1
Arsenicaffects cotreatment, decreases expression, increases abundance1
Cadmiumdecreases expression, increases abundance1
Caffeineincreases phosphorylation1
Hydrogen Peroxideaffects cotreatment, increases expression1
Ivermectindecreases expression1
Smokedecreases expression1
Dronabinolincreases expression1
Theophyllineaffects cotreatment, increases expression1
Tobacco Smoke Pollutionincreases expression1
Tretinoinincreases expression1
Urethaneincreases expression1
Valproic Aciddecreases expression1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxideincreases expression1
Cyclosporineincreases expression1
Aflatoxin B1increases methylation1
Antirheumatic Agentsdecreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): vitiligo