LYPD5

gene
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Also known as FLJ30469Haldisin

Summary

LYPD5 (LY6/PLAUR domain containing 5, HGNC:26397) is a protein-coding gene on chromosome 19q13.31, encoding Ly6/PLAUR domain-containing protein 5 (Q6UWN5).

Predicted to be located in extracellular region. Predicted to be active in plasma membrane.

Source: NCBI Gene 284348 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 36 total
  • MANE Select transcript: NM_001031749

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26397
Approved symbolLYPD5
NameLY6/PLAUR domain containing 5
Location19q13.31
Locus typegene with protein product
StatusApproved
AliasesFLJ30469, Haldisin
Ensembl geneENSG00000159871
Ensembl biotypeprotein_coding
OMIM619618
Entrez284348

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000377950, ENST00000414615, ENST00000594013, ENST00000594049, ENST00000595666, ENST00000599397, ENST00000601224, ENST00000602179, ENST00000651184

RefSeq mRNA: 3 — MANE Select: NM_001031749 NM_001031749, NM_001288763, NM_182573

CCDS: CCDS12631, CCDS46096

Canonical transcript exons

ENST00000377950 — 5 exons

ExonStartEnd
ENSE000013227244379881243798988
ENSE000014756074379592743797829
ENSE000022245424380231743802447
ENSE000036094474379970643799834
ENSE000036465304379845543798601

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 91.79.

FANTOM5 (CAGE): breadth broad, TPM avg 2.3140 / max 92.7703, expressed in 442 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter IDTPM avgSamples expressed
1813710.6920185
1813600.290179
1813700.268440
1813660.2535101
1813670.157267
1813610.147576
1813680.132060
1813720.110152
1813620.102763
1813760.05489

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
skin of legUBERON:000151191.79gold quality
skin of abdomenUBERON:000141691.32gold quality
zone of skinUBERON:000001489.03gold quality
upper arm skinUBERON:000426385.74silver quality
right frontal lobeUBERON:000281081.96gold quality
Brodmann (1909) area 9UBERON:001354080.79gold quality
anterior cingulate cortexUBERON:000983580.51gold quality
prefrontal cortexUBERON:000045180.46gold quality
buccal mucosa cellCL:000233680.12silver quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047378.77gold quality
esophagus mucosaUBERON:000246978.52gold quality
nucleus accumbensUBERON:000188276.68gold quality
hypothalamusUBERON:000189876.46gold quality
neocortexUBERON:000195076.37gold quality
frontal cortexUBERON:000187076.34gold quality
dorsolateral prefrontal cortexUBERON:000983476.25gold quality
C1 segment of cervical spinal cordUBERON:000646975.29gold quality
putamenUBERON:000187474.37gold quality
esophagusUBERON:000104374.19gold quality
caudate nucleusUBERON:000187374.13gold quality
cortical plateUBERON:000534373.98gold quality
amygdalaUBERON:000187672.95gold quality
cerebral cortexUBERON:000095672.86gold quality
lower esophagus mucosaUBERON:003583472.38gold quality
spinal cordUBERON:000224072.17gold quality
right lungUBERON:000216771.94gold quality
upper lobe of left lungUBERON:000895271.67gold quality
right hemisphere of cerebellumUBERON:001489071.46gold quality
forebrainUBERON:000189071.23gold quality
gingivaUBERON:000182871.00gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no4.72

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting LYPD5, 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-4789-5P99.9870.762721
HSA-MIR-185-3P99.9567.011743
HSA-MIR-145-5P99.9271.131836
HSA-MIR-5195-3P99.9270.921877
HSA-MIR-3151-5P99.8663.831069
HSA-MIR-3150A-3P99.7664.441640
HSA-MIR-6763-5P99.7664.681767
HSA-MIR-453099.6966.471509
HSA-MIR-670-5P99.6769.941565
HSA-MIR-10394-5P99.6566.831852
HSA-MIR-120599.6566.761826
HSA-MIR-651-5P99.6468.491104
HSA-MIR-891B99.5969.811083
HSA-MIR-425-5P99.5967.67900
HSA-MIR-54399.5269.032595
HSA-MIR-4687-3P99.4866.41968
HSA-MIR-5580-5P99.3866.961139
HSA-MIR-520A-5P99.3566.721632
HSA-MIR-525-5P99.3566.851615
HSA-MIR-6731-5P99.2867.422375
HSA-MIR-808599.2867.562362
HSA-MIR-797499.2465.481137
HSA-MIR-447899.0765.162320
HSA-MIR-3117-5P99.0467.93618
HSA-MIR-6506-5P99.0465.661386
HSA-MIR-480198.9669.422096
HSA-MIR-446498.9567.73820
HSA-MIR-3135B98.6165.331470
HSA-MIR-1212598.5967.541044
HSA-MIR-619-5P98.5764.971988

Literature-anchored findings (GeneRIF, showing 2)

  • The study identifies LYPD5 a novel differentiation marker of stratum granulosum in squamous epithelia. (PMID:23896969)
  • Expression of the Ly6/uPAR-domain proteins C4.4A and Haldisin in non-invasive and invasive skin lesions (PMID:25414274)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusLypd5ENSMUSG00000030484
rattus_norvegicusLypd5ENSRNOG00000019432

Paralogs (2): PLAUR (ENSG00000011422), LYPD3 (ENSG00000124466)

Protein

Protein identifiers

Ly6/PLAUR domain-containing protein 5Q6UWN5 (reviewed: Q6UWN5)

All UniProt accessions (3): Q6UWN5, M0QYY3, M0R1J4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell membrane.

Isoforms (2)

UniProt IDNamesCanonical?
Q6UWN5-11yes
Q6UWN5-22

RefSeq proteins (3): NP_001026919, NP_001275692, NP_872379 (=MANE)

Domains & families (InterPro)

IDNameType
IPR016054LY6_UPA_recep-likeDomain
IPR018363CD59_antigen_CSConserved_site
IPR045860Snake_toxin-like_sfHomologous_superfamily

Pfam: PF00021

UniProt features (12 total): sequence variant 3, glycosylation site 2, signal peptide 1, chain 1, sequence conflict 1, propeptide 1, domain 1, lipid moiety-binding region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6UWN5-F184.700.67

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 (1): 225

Glycosylation sites (2): 120, 174

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-163125Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-392499Metabolism of proteins
R-HSA-597592Post-translational protein modification

MSigDB gene sets: 46 (showing top): NUYTTEN_EZH2_TARGETS_DN, GOCC_SIDE_OF_MEMBRANE, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, ZWANG_CLASS_1_TRANSIENTLY_INDUCED_BY_EGF, REACTOME_POST_TRANSLATIONAL_MODIFICATION_SYNTHESIS_OF_GPI_ANCHORED_PROTEINS, H1_6_TARGET_GENES, HOXC6_TARGET_GENES, KLF7_TARGET_GENES, RYBP_TARGET_GENES, ZBTB12_TARGET_GENES, ZNF184_TARGET_GENES, ZNF30_TARGET_GENES, ZNF577_TARGET_GENES, ZNF664_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): extracellular region (GO:0005576), plasma membrane (GO:0005886), side of membrane (GO:0098552), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Post-translational protein modification1
Metabolism of proteins1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
membrane2
binding1
cell periphery1
leaflet of membrane bilayer1

Protein interactions and networks

STRING

330 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
LYPD5PINLYPA6NC86691
LYPD5LY6LH3BQJ8670
LYPD5PATE3B3GLJ2666
LYPD5PATE2Q6UY27605
LYPD5SPACA4Q8TDM5595
LYPD5PATE1Q8WXA2583
LYPD5PATE4P0C8F1583
LYPD5TEX101Q9BY14582
LYPD5LY6G5BQ8NDX9574
LYPD5LYPD2Q6UXB3571
LYPD5SLURP1P55000570
LYPD5LY6HO94772570
LYPD5ZNF511Q8NB15541
LYPD5LYPD4Q6UWN0541
LYPD5LY6G5CQ5SRR4530

IntAct

28 interactions, top by confidence:

ABTypeScore
ERG28LYPD5psi-mi:“MI:0915”(physical association)0.560
NINJ2LYPD5psi-mi:“MI:0915”(physical association)0.560
EHHADHLYPD5psi-mi:“MI:0915”(physical association)0.560
LYPD5ERG28psi-mi:“MI:0915”(physical association)0.560
LYPD5ERMP1psi-mi:“MI:0915”(physical association)0.560
LYPD5PLPPR2psi-mi:“MI:0915”(physical association)0.560
BET1LYPD5psi-mi:“MI:0915”(physical association)0.560
LYPD5NINJ2psi-mi:“MI:0915”(physical association)0.560
TSPOLYPD5psi-mi:“MI:0915”(physical association)0.560
IFITM3LYPD5psi-mi:“MI:0915”(physical association)0.560
repLYPD5psi-mi:“MI:0915”(physical association)0.490
LYPD5CDC45psi-mi:“MI:0914”(association)0.350
ERMP1LYPD5psi-mi:“MI:0915”(physical association)0.000
PLPPR2LYPD5psi-mi:“MI:0915”(physical association)0.000
BET1LYPD5psi-mi:“MI:0915”(physical association)0.000
TSPOLYPD5psi-mi:“MI:0915”(physical association)0.000
IFITM3LYPD5psi-mi:“MI:0915”(physical association)0.000

BioGRID (14): CLSTN1 (Affinity Capture-MS), LYPD5 (Two-hybrid), LYPD5 (Two-hybrid), LYPD5 (Two-hybrid), LYPD5 (Two-hybrid), LYPD5 (Two-hybrid), LYPD5 (Two-hybrid), LYPD5 (Two-hybrid), NINJ2 (Two-hybrid), CDC45 (Affinity Capture-MS), ATP2B2 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), LYPD5 (Two-hybrid), LYPD5 (Positive Genetic)

ESM2 similar proteins: A0JNB3, A0JNL5, A6NC86, H3BJG9, H3BQJ8, O55186, O94772, O95867, P05533, P0CW02, P0CW03, P0DTL4, P13987, P35456, P35459, P35460, P35461, P46657, P47777, P49616, P57096, P58019, Q03405, Q05588, Q14210, Q148C3, Q28216, Q28785, Q32PB3, Q4R5M8, Q5R510, Q63317, Q64253, Q6UWN5, Q6UX82, Q80ZQ0, Q8K1T6, Q8SQ46, Q8TDM5, Q924B5

Diamond homologs: Q6UWN5, Q9D7Z7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance25
Likely benign1
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

597 predictions. Top by Δscore:

VariantEffectΔscore
19:43798449:CCTTA:Cdonor_loss1.0000
19:43798450:CTTAC:Cdonor_loss1.0000
19:43798451:TTACC:Tdonor_loss1.0000
19:43798452:TA:Tdonor_loss1.0000
19:43798453:A:ACdonor_gain1.0000
19:43798453:A:Cdonor_loss1.0000
19:43798454:C:CCdonor_gain1.0000
19:43798454:CCAA:Cdonor_gain1.0000
19:43798457:A:ACdonor_gain1.0000
19:43798458:C:CCdonor_gain1.0000
19:43798597:GGGTG:Gacceptor_gain1.0000
19:43798599:GTG:Gacceptor_gain1.0000
19:43798600:TG:Tacceptor_gain1.0000
19:43798600:TGCT:Tacceptor_loss1.0000
19:43798601:GCTG:Gacceptor_loss1.0000
19:43798602:C:CAacceptor_loss1.0000
19:43798602:C:CCacceptor_gain1.0000
19:43798606:C:CTacceptor_gain1.0000
19:43799700:CCTTA:Cdonor_loss1.0000
19:43799701:CTTAC:Cdonor_loss1.0000
19:43799702:TTACC:Tdonor_loss1.0000
19:43799703:TAC:Tdonor_loss1.0000
19:43799704:A:ACdonor_gain1.0000
19:43799704:ACCGG:Adonor_loss1.0000
19:43799705:C:CCdonor_gain1.0000
19:43810116:T:TAdonor_gain1.0000
19:43797826:TTGC:Tacceptor_gain0.9900
19:43797830:C:CAacceptor_loss0.9900
19:43798454:CCA:Cdonor_gain0.9900
19:43798474:G:Adonor_gain0.9900

AlphaMissense

1614 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:43798481:A:CF164C0.998
19:43798505:C:GC156S0.997
19:43798506:A:TC156S0.997
19:43798855:G:CN109K0.996
19:43798855:G:TN109K0.996
19:43798480:G:CF164L0.995
19:43798480:G:TF164L0.995
19:43798482:A:GF164L0.995
19:43798568:C:GC135S0.995
19:43798569:A:TC135S0.995
19:43797796:C:TC184Y0.994
19:43797796:C:GC184S0.993
19:43797797:A:TC184S0.993
19:43798476:C:AG166C0.993
19:43798506:A:GC156R0.993
19:43798859:C:GC108S0.993
19:43798860:A:TC108S0.993
19:43797734:C:AG205C0.992
19:43797753:C:AW198C0.992
19:43797753:C:GW198C0.992
19:43798535:C:GC146S0.992
19:43798536:A:TC146S0.992
19:43798874:C:GC103S0.992
19:43798875:A:TC103S0.992
19:43798484:C:GC163S0.991
19:43798485:A:TC163S0.991
19:43798504:A:CC156W0.991
19:43798569:A:GC135R0.991
19:43798957:C:AK75N0.991
19:43798957:C:GK75N0.991

dbSNP variants (sampled 300 via entrez): RS1000258241 (19:43812217 T>C), RS1000351866 (19:43805668 T>C), RS1000465405 (19:43799210 T>G), RS1000487397 (19:43811506 C>A,T), RS1000626487 (19:43799630 C>T), RS1000671526 (19:43805751 A>C,G), RS1000893757 (19:43798788 G>T), RS1001064246 (19:43818177 G>A), RS1001173416 (19:43814444 T>G), RS1001242713 (19:43806209 C>T), RS1001276016 (19:43810382 G>A), RS1001354372 (19:43812426 A>C,G), RS1001427866 (19:43812788 A>G), RS1001433376 (19:43814840 G>A,T), RS1001528935 (19:43801360 G>A)

Disease associations

OMIM: gene MIM:619618 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

StudyTraitp-value
GCST001937_27Breast cancer2.000000e-10
GCST002522_1Reading or mathematical ability8.000000e-09
GCST004988_14Breast cancer1.000000e-16

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0005229reading

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arsenateincreases abundance, decreases expression1
sodium arseniteincreases expression1
butyraldehydeincreases expression1
benzo(e)pyreneincreases methylation1
hydroquinoneincreases expression1
CGP 52608increases reaction, affects binding1
abrineincreases expression1
bisphenol Sdecreases methylation1
Resveratrolaffects cotreatment, decreases expression1
Arsenicdecreases expression, increases abundance1
Benzo(a)pyreneaffects methylation, increases methylation1
Calcitriolincreases expression1
Methapyrileneincreases methylation1
Plant Extractsaffects cotreatment, decreases expression1
Tobacco Smoke Pollutiondecreases expression1
Valproic Acidincreases methylation1
Cadmium Chlorideincreases expression1
Okadaic Acidincreases expression1
Lactic Aciddecreases expression1
Particulate Matterincreases 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.