IPP

gene
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Also known as KLHL27

Summary

IPP (intracisternal A particle-promoted polypeptide, HGNC:6108) is a protein-coding gene on chromosome 1p34.1, encoding Actin-binding protein IPP (Q9Y573). May play a role in organizing the actin cytoskeleton.

The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined.

Source: NCBI Gene 3652 — RefSeq curated summary.

At a glance

  • GWAS associations: 15
  • Clinical variants (ClinVar): 99 total
  • MANE Select transcript: NM_005897

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:6108
Approved symbolIPP
Nameintracisternal A particle-promoted polypeptide
Location1p34.1
Locus typegene with protein product
StatusApproved
AliasesKLHL27
Ensembl geneENSG00000197429
Ensembl biotypeprotein_coding
OMIM147485
Entrez3652

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000359942, ENST00000396478, ENST00000461718, ENST00000495072, ENST00000890995, ENST00000890996, ENST00000890997, ENST00000964613, ENST00000964614

RefSeq mRNA: 2 — MANE Select: NM_005897 NM_001145349, NM_005897

CCDS: CCDS30702, CCDS44132

Canonical transcript exons

ENST00000396478 — 9 exons

ExonStartEnd
ENSE000014019574571689545717017
ENSE000014030144571920345719340
ENSE000014037514574090145741332
ENSE000014043144572961445729769
ENSE000014060474572763145727798
ENSE000014567174571424645714466
ENSE000014567194574612045746461
ENSE000018099584575059745750653
ENSE000018747274569871145700190

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 90.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9167 / max 56.1089, expressed in 1618 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
121562.58561432
121570.8744391
121550.4567178

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
skeletal muscle tissue of biceps brachiiUBERON:000450290.12gold quality
nippleUBERON:000203089.54gold quality
ventricular zoneUBERON:000305387.71gold quality
renal medullaUBERON:000036286.50gold quality
pylorusUBERON:000116686.16gold quality
biceps brachiiUBERON:000150786.01gold quality
hindlimb stylopod muscleUBERON:000425285.97gold quality
cardia of stomachUBERON:000116285.83gold quality
superior surface of tongueUBERON:000737185.76gold quality
mucosa of paranasal sinusUBERON:000503085.60gold quality
bronchial epithelial cellCL:000232885.50gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099185.33gold quality
penisUBERON:000098985.11gold quality
trigeminal ganglionUBERON:000167585.11gold quality
adrenal tissueUBERON:001830384.85gold quality
muscle of legUBERON:000138384.58gold quality
tracheaUBERON:000312684.53gold quality
islet of LangerhansUBERON:000000684.44gold quality
subthalamic nucleusUBERON:000190684.27gold quality
gastrocnemiusUBERON:000138884.14gold quality
muscle organUBERON:000163083.92gold quality
body of tongueUBERON:001187683.92gold quality
dorsal root ganglionUBERON:000004483.66gold quality
pericardiumUBERON:000240783.57silver quality
corpus epididymisUBERON:000435983.52gold quality
inferior vagus X ganglionUBERON:000536383.46gold quality
cranial nerve IIUBERON:000094183.44gold quality
adult organismUBERON:000702383.43gold quality
ganglionic eminenceUBERON:000402383.29gold quality
ventral tegmental areaUBERON:000269183.27gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes4.98

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting IPP, 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-190A-3P100.0080.355520
HSA-MIR-5692A100.0074.406850
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-453199.9969.703181
HSA-MIR-4482-3P99.9872.503147
HSA-MIR-1213699.9872.815713
HSA-MIR-548P99.9872.253784
HSA-MIR-1250-3P99.9670.044038
HSA-MIR-218-5P99.9372.222103
HSA-MIR-450B-5P99.9271.483175
HSA-MIR-130599.9171.433443
HSA-MIR-806399.9169.763146
HSA-MIR-6783-3P99.8967.922059
HSA-MIR-1343-3P99.8966.781815
HSA-MIR-95-5P99.8972.173973
HSA-MIR-221-5P99.8665.451052
HSA-MIR-807399.8665.211118
HSA-MIR-469899.8471.414303
HSA-MIR-4802-3P99.7270.131273
HSA-MIR-4524A-3P99.7266.852406
HSA-MIR-128399.6972.423009
HSA-MIR-361899.6968.571012
HSA-MIR-1251-3P99.6467.211408
HSA-MIR-561-3P99.6470.903647
HSA-MIR-451699.6167.783390
HSA-MIR-443799.5265.291266
HSA-MIR-448999.5065.56785
HSA-MIR-6513-5P99.4367.811071
HSA-MIR-3692-5P99.2967.041421

Literature-anchored findings (GeneRIF, showing 2)

  • Integrin-linked kinase (ILK) regulates KRAS, IPP complex and Ras suppressor-1 (RSU1) promoting lung adenocarcinoma progression and poor survival. (PMID:32592097)
  • MicroRNA-Dependent Targeting of RSU1 and the IPP Adhesion Complex Regulates the PTEN/PI3K/AKT Signaling Pathway in Breast Cancer Cell Lines. (PMID:32751711)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusIppENSMUSG00000028696
rattus_norvegicusIppENSRNOG00000016183

Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL42 (ENSG00000087448), KLHL22 (ENSG00000099910), KLHL4 (ENSG00000102271), KLHL2 (ENSG00000109466), KLHL5 (ENSG00000109790), BACH2 (ENSG00000112182), KLHL18 (ENSG00000114648), KLHL24 (ENSG00000114796), IVNS1ABP (ENSG00000116679), KLHL12 (ENSG00000117153), KLHL29 (ENSG00000119771), KBTBD7 (ENSG00000120696), KLHL7 (ENSG00000122550), KLHL31 (ENSG00000124743), KLHDC7B (ENSG00000130487), KLHL36 (ENSG00000135686), KLHL8 (ENSG00000145332), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), KLHL1 (ENSG00000150361), BACH1 (ENSG00000156273), KLHL40 (ENSG00000157119), KLHL10 (ENSG00000161594), KLHL21 (ENSG00000162413), KLHDC8A (ENSG00000162873), KBTBD8 (ENSG00000163376), KBTBD6 (ENSG00000165572), KLHL26 (ENSG00000167487), KLHL30 (ENSG00000168427), KBTBD2 (ENSG00000170852), KLHL6 (ENSG00000172578), KLHL15 (ENSG00000174010), KLHL38 (ENSG00000175946), KBTBD11 (ENSG00000176595), KLHDC7A (ENSG00000179023), KLHL28 (ENSG00000179454), KBTBD3 (ENSG00000182359)

Protein

Protein identifiers

Actin-binding protein IPPQ9Y573 (reviewed: Q9Y573)

Alternative names: Intracisternal A particle-promoted polypeptide, Kelch-like protein 27

All UniProt accessions (1): Q9Y573

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in organizing the actin cytoskeleton.

Subcellular location. Cytoplasm. Cytoskeleton.

Isoforms (2)

UniProt IDNamesCanonical?
Q9Y573-11yes
Q9Y573-22

RefSeq proteins (2): NP_001138821, NP_005888* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000210BTB/POZ_domDomain
IPR006652Kelch_1Repeat
IPR011043Gal_Oxase/kelch_b-propellerHomologous_superfamily
IPR011333SKP1/BTB/POZ_sfHomologous_superfamily
IPR011705BACKDomain
IPR015915Kelch-typ_b-propellerHomologous_superfamily
IPR017096BTB-kelch_proteinFamily
IPR030104BTB_POZ_IPPDomain
IPR047067IPP_BACKDomain

Pfam: PF00651, PF01344, PF07707, PF24681

UniProt features (10 total): repeat 6, chain 1, domain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y573-F190.120.70

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 142 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MODULE_511, BLALOCK_ALZHEIMERS_DISEASE_UP, chr1p34, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOMF_ACTIN_BINDING, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, HU_GENOTOXIN_ACTION_DIRECT_VS_INDIRECT_24HR, GOBP_PROTEIN_CATABOLIC_PROCESS, GOCC_TRANSFERASE_COMPLEX, GOBP_PROTEOLYSIS, GOCC_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX

GO Biological Process (1): proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)

GO Molecular Function (3): actin binding (GO:0003779), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629), Cul3-RING ubiquitin ligase complex (GO:0031463), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
ubiquitin-dependent protein catabolic process1
proteasomal protein catabolic process1
cytoskeletal protein binding1
enzyme-substrate adaptor activity1
binding1
intracellular anatomical structure1
cellular anatomical structure1
cytoskeleton1
cullin-RING ubiquitin ligase complex1
intracellular membraneless organelle1

Protein interactions and networks

STRING

486 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
IPPMINPP1Q9UNW1881
IPPCYB561A3Q8NBI2560
IPPZNF836Q6ZNA1524
IPPPOLR3HQ9Y535484
IPPPIGLQ9Y2B2477
IPPKLHDC1Q8N7A1404
IPPCPPED1Q9BRF8402
IPPOLFML2AQ68BL7392
IPPPLA2G12AQ9BZM1380
IPPPHYHO14832379
IPPENDOD1O94919375
IPPRPL6Q02878370
IPPUQCRBP14927368
IPPMRPL41Q8IXM3364
IPPSTK35Q8TDR2360

IntAct

44 interactions, top by confidence:

ABTypeScore
PEF1PDCD6psi-mi:“MI:0914”(association)0.900
KLHL12KLHL2psi-mi:“MI:0914”(association)0.850
KLHL26CUL3psi-mi:“MI:0914”(association)0.730
KLHL24CUL3psi-mi:“MI:0914”(association)0.730
KLHL21CUL3psi-mi:“MI:0914”(association)0.640
CUL3ENC1psi-mi:“MI:0914”(association)0.640
KLHL22METTL15psi-mi:“MI:0914”(association)0.640
KLHL9ENC1psi-mi:“MI:0914”(association)0.640
ZNF517GGPS1psi-mi:“MI:0914”(association)0.530
CUL3ZSWIM8psi-mi:“MI:0914”(association)0.530
TACC3HSPA8psi-mi:“MI:0914”(association)0.530
KLHL9KLHL26psi-mi:“MI:0914”(association)0.530
CUL3PXDNLpsi-mi:“MI:0914”(association)0.350
KLHL20KRBA1psi-mi:“MI:0914”(association)0.350
CUL3KLHL2psi-mi:“MI:0914”(association)0.350
KLHL28PRKACBpsi-mi:“MI:0914”(association)0.350
LANCL1MYO7Apsi-mi:“MI:0914”(association)0.350
FERMT3FERMT2psi-mi:“MI:0914”(association)0.350
MAPK1SEC16Apsi-mi:“MI:0914”(association)0.350
KLHL12SKP1psi-mi:“MI:0914”(association)0.350
FBXL17ZBTB5psi-mi:“MI:0914”(association)0.350
FBXL17ENC1psi-mi:“MI:0914”(association)0.350
DNAL4WDR91psi-mi:“MI:0914”(association)0.350
BACH2ENC1psi-mi:“MI:0914”(association)0.350
OVOL2TNPO2psi-mi:“MI:0914”(association)0.350
MAPK1SPAG9psi-mi:“MI:0914”(association)0.350
COL16A1PLOD3psi-mi:“MI:0914”(association)0.350
ZNF777PTCD1psi-mi:“MI:0914”(association)0.350

BioGRID (64): IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS), IPP (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8Q1W5, A6QQY2, B0WWP2, B3NDN0, B4HIK1, B4L0G9, B4LIG6, B4PD06, D3Z8N4, E0CZ16, E1B932, E7F6F9, E9Q4F2, F1LZ52, O94889, P28575, P57790, P59280, Q08DK3, Q14145, Q16RL8, Q2T9Z7, Q53G59, Q5R774, Q5R7B8, Q5U374, Q5ZKD9, Q5ZLD3, Q684M4, Q6DFF6, Q6JEL2, Q6JEL3, Q6NRH0, Q6TDP3, Q6TDP4, Q6ZPT1, Q7QGL0, Q80TF4, Q8BZM0, Q8K430

Diamond homologs: A0A1B8YAB1, A1YPR0, B0WWP2, B1H285, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, C9JR72, D3Z8N4, E0CZ16, G3X9X1, O15062, O88939, O93567, O95365, P28575, P41182, P41183, Q08CL3, Q08DK3, Q13105, Q16RL8, Q2M0J9, Q3UQV5, Q52KB5, Q5EXX3, Q5R7B8, Q5RDY3, Q5TC79, Q5ZI33, Q5ZKD9, Q5ZM39, Q60821

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Class I MHC mediated antigen processing & presentation613.6×9e-04
Neddylation710.7×9e-04
Antigen processing: Ubiquitination & Proteasome degradation78.4×2e-03
Adaptive Immune System76.7×5e-03

GO biological processes:

GO termPartnersFoldFDR
integrin-mediated signaling pathway516.7×7e-04
endoplasmic reticulum to Golgi vesicle-mediated transport514.2×1e-03
proteasome-mediated ubiquitin-dependent protein catabolic process1213.0×3e-08
protein ubiquitination119.5×3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance79
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1782 predictions. Top by Δscore:

VariantEffectΔscore
1:45714245:CCT:Cdonor_gain1.0000
1:45714362:CCAT:Cacceptor_gain1.0000
1:45714363:C:Tacceptor_gain1.0000
1:45714363:CAT:Cacceptor_gain1.0000
1:45716891:TTA:Tdonor_loss1.0000
1:45716892:TAC:Tdonor_loss1.0000
1:45716894:CCTTG:Cdonor_gain1.0000
1:45716951:T:TAdonor_gain1.0000
1:45716952:C:Adonor_gain1.0000
1:45717013:TCCAC:Tacceptor_gain1.0000
1:45717014:CCAC:Cacceptor_gain1.0000
1:45717014:CCACC:Cacceptor_gain1.0000
1:45717015:CAC:Cacceptor_gain1.0000
1:45717015:CACC:Cacceptor_gain1.0000
1:45717015:CACCT:Cacceptor_loss1.0000
1:45717016:AC:Aacceptor_gain1.0000
1:45717016:ACCTG:Aacceptor_loss1.0000
1:45717017:CC:Cacceptor_gain1.0000
1:45717018:C:CCacceptor_gain1.0000
1:45719232:CACA:Cdonor_gain1.0000
1:45719234:CA:Cdonor_gain1.0000
1:45719235:A:ACdonor_gain1.0000
1:45719236:C:CCdonor_gain1.0000
1:45727625:TATTA:Tdonor_loss1.0000
1:45727627:TTACC:Tdonor_loss1.0000
1:45727628:TA:Tdonor_loss1.0000
1:45727630:C:CGdonor_loss1.0000
1:45727669:C:CAdonor_gain1.0000
1:45727795:CCAC:Cacceptor_gain1.0000
1:45727796:CAC:Cacceptor_gain1.0000

AlphaMissense

3819 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:45719281:A:GW370R1.000
1:45719281:A:TW370R1.000
1:45700025:A:GW566R0.999
1:45700025:A:TW566R0.999
1:45700046:A:CY559D0.999
1:45716953:C:AW417C0.999
1:45716953:C:GW417C0.999
1:45716955:A:GW417R0.999
1:45716955:A:TW417R0.999
1:45717014:C:TG397E0.999
1:45719279:C:AW370C0.999
1:45719279:C:GW370C0.999
1:45727633:C:TG349E0.999
1:45727712:A:GW323R0.999
1:45727712:A:TW323R0.999
1:45727735:C:GR315P0.999
1:45741006:A:GW207R0.999
1:45741006:A:TW207R0.999
1:45741285:C:GA114P0.999
1:45700023:C:AW566C0.998
1:45700023:C:GW566C0.998
1:45714304:C:TG491E0.998
1:45714314:A:CY488D0.998
1:45714448:C:TG443E0.998
1:45714449:C:AG443W0.998
1:45719250:C:GR380P0.998
1:45719340:C:TG350D0.998
1:45741077:A:GL183P0.998
1:45741284:G:TA114E0.998
1:45699994:C:GR576P0.997

dbSNP variants (sampled 300 via entrez): RS1000011065 (1:45709057 GA>G,GAA), RS1000013616 (1:45696316 C>A,G,T), RS1000129756 (1:45740145 T>C), RS1000193583 (1:45742240 T>G), RS1000222642 (1:45740558 C>A,G), RS1000316062 (1:45722948 G>A), RS1000406623 (1:45713031 G>A), RS1000523538 (1:45734671 G>A), RS1000546788 (1:45744856 T>A,G), RS1000587567 (1:45735366 G>A), RS1000654230 (1:45733576 C>T), RS1000733512 (1:45705761 GC>G,GCC), RS1000765921 (1:45744658 G>A), RS1000769671 (1:45727166 C>A), RS1000860229 (1:45724821 G>A,C,T)

Disease associations

OMIM: gene MIM:147485 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

15 associations (top):

StudyTraitp-value
GCST004571_9Iron status biomarkers (total iron binding capacity)2.000000e-07
GCST004572_21Iron status biomarkers (transferrin saturation)2.000000e-07
GCST005951_37Body mass index8.000000e-10
GCST005991_75Platelet count2.000000e-10
GCST010083_240Hemoglobin levels2.000000e-20
GCST010696_7Cortical thickness (min-P)3.000000e-08
GCST010697_28Cortical surface area (min-P)2.000000e-08
GCST010698_30Subcortical volume (min-P)3.000000e-08
GCST010699_45Brain morphology (min-P)3.000000e-08
GCST010700_23Cortical thickness (MOSTest)1.000000e-10
GCST010701_9Cortical surface area (MOSTest)2.000000e-08
GCST010702_139Subcortical volume (MOSTest)4.000000e-14
GCST010703_258Brain morphology (MOSTest)2.000000e-13
GCST010988_531Adult body size4.000000e-14
GCST012020_65Serum metabolite levels1.000000e-17

EFO canonical traits (6, from GWAS)

EFO IDTrait name
EFO:0006334total iron binding capacity
EFO:0004340body mass index
EFO:0004309platelet count
EFO:0004509hemoglobin measurement
EFO:0004346neuroimaging measurement
EFO:0004840cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, decreases expression, affects expression6
trichostatin Adecreases expression, affects expression, affects cotreatment4
Cadmium Chloridedecreases expression, increases abundance, increases expression2
GSK-J4decreases expression1
methylmercuric chloridedecreases expression1
triphenyl phosphateaffects expression1
butyraldehydedecreases expression1
cupric oxidedecreases expression1
di-n-butylphosphoric acidaffects expression1
CGP 52608affects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
abrinedecreases expression1
dorsomorphinaffects cotreatment, decreases expression1
jinfukangaffects cotreatment, increases expression1
Resveratrolincreases expression, affects cotreatment1
Temozolomidedecreases expression1
Leflunomidedecreases expression1
Cadmiumincreases expression, increases abundance1
Cisplatinaffects cotreatment, increases expression1
Ethyl Methanesulfonateincreases expression1
Hydrogen Peroxidedecreases expression1
Methyl Methanesulfonateincreases expression1
Nickeldecreases expression1
Plant Extractsaffects cotreatment, increases expression1
Silicon Dioxidedecreases expression1
Thiramdecreases expression1
Urethanedecreases expression1
Vitamin Edecreases expression1
Cyclosporinedecreases expression1
Copper Sulfatedecreases expression1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.