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KRTAP5-11

gene
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Also known as KRTAP5.11KRTAP5-6

Summary

KRTAP5-11 (keratin associated protein 5-11, HGNC:23606) is a protein-coding gene on chromosome 11q13.4, encoding Keratin-associated protein 5-11 (Q6L8G4). In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linki….

Predicted to be located in cytosol.

Source: NCBI Gene 440051 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 51 total
  • MANE Select transcript: NM_001005405

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:23606
Approved symbolKRTAP5-11
Namekeratin associated protein 5-11
Location11q13.4
Locus typegene with protein product
StatusApproved
AliasesKRTAP5.11, KRTAP5-6
Ensembl geneENSG00000204571
Ensembl biotypeprotein_coding
Entrez440051

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000398530, ENST00000526239

RefSeq mRNA: 1 — MANE Select: NM_001005405 NM_001005405

CCDS: CCDS41685

Canonical transcript exons

ENST00000398530 — 1 exons

ExonStartEnd
ENSE000015334867158185571582875

Expression profiles

Bgee: expression breadth broad, 41 present calls, max score 53.24.

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
nucleus accumbensUBERON:000188253.24gold quality
caudate nucleusUBERON:000187351.12gold quality
primary visual cortexUBERON:000243650.08silver quality
right hemisphere of cerebellumUBERON:001489046.96gold quality
cerebellumUBERON:000203746.47silver quality
cerebellar cortexUBERON:000212946.36silver quality
cerebellar hemisphereUBERON:000224546.33silver quality
Brodmann (1909) area 9UBERON:001354044.90gold quality
putamenUBERON:000187444.66gold quality
dorsolateral prefrontal cortexUBERON:000983444.35gold quality
colonic epitheliumUBERON:000039744.09gold quality
right frontal lobeUBERON:000281041.88gold quality
ventricular zoneUBERON:000305341.07gold quality
hypothalamusUBERON:000189841.00gold quality
brainUBERON:000095540.19gold quality
right coronary arteryUBERON:000162538.65silver quality
bone marrow cellCL:000209238.58gold quality
skeletal muscle tissueUBERON:000113438.48gold quality
cerebral cortexUBERON:000095638.37gold quality
frontal cortexUBERON:000187038.30gold quality
cortical plateUBERON:000534336.47gold quality
anterior cingulate cortexUBERON:000983536.43gold quality
C1 segment of cervical spinal cordUBERON:000646936.18gold quality
prefrontal cortexUBERON:000045135.92gold quality
ganglionic eminenceUBERON:000402335.49gold quality
muscle tissueUBERON:000238534.81gold quality
superior frontal gyrusUBERON:000266134.71silver quality
duodenumUBERON:000211434.61gold quality
tonsilUBERON:000237234.15gold quality
substantia nigraUBERON:000203833.99gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no1.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting KRTAP5-11, 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-4533100.0069.482758
HSA-MIR-10401-5P99.9965.79948
HSA-MIR-453499.9966.581907
HSA-MIR-318599.9968.121959
HSA-MIR-808299.9567.271170
HSA-MIR-153-5P99.8973.866317
HSA-MIR-449699.8868.892236
HSA-MIR-391999.8769.452489
HSA-MIR-6764-5P99.7567.892304
HSA-MIR-1915-3P99.5866.791988
HSA-MIR-478499.1567.411733
HSA-MIR-6830-5P99.0168.731884
HSA-MIR-3150B-3P98.8167.211728
HSA-MIR-5011-3P98.6364.81638
HSA-MIR-299-5P98.5671.141140
HSA-MIR-5187-5P98.5467.94952
HSA-MIR-3664-3P97.8567.621452
HSA-MIR-7154-3P97.6565.02985
HSA-MIR-493-3P97.5066.44731
HSA-MIR-568597.0264.341004
HSA-MIR-1245A96.3366.25498
HSA-MIR-807996.3366.11484
HSA-MIR-139-3P95.2463.10316
HSA-MIR-615-3P90.6268.0769

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 5-11 — Q6L8G4 (reviewed: Q6L8G4)

Alternative names: Keratin-associated protein 5.11, Ultrahigh sulfur keratin-associated protein 5.11

All UniProt accessions (1): Q6L8G4

UniProt curated annotations — full annotation on UniProt →

Function. In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

Subunit / interactions. Interacts with hair keratins.

Tissue specificity. Restricted to hair root, not detected in any other tissues.

Similarity. Belongs to the KRTAP type 5 family.

RefSeq proteins (1): NP_001005405* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002494KAPFamily

Pfam: PF13885

UniProt features (8 total): repeat 6, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6L8G4-F142.380.00

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

IDPathway
R-HSA-6805567Keratinization
R-HSA-1266738Developmental Biology

MSigDB gene sets: 17 (showing top): chr11q13, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, ZWANG_EGF_INTERVAL_UP, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, SNAPC4_TARGET_GENES, MIR153_5P, MIR299_5P, MIR4483, MIR5187_5P, MIR10401_5P, MIR1293

GO Biological Process (0):

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

GO Cellular Component (2): cytosol (GO:0005829), intermediate filament (GO:0005882)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Developmental Biology1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1
cytoplasm1
cellular anatomical structure1
intermediate filament cytoskeleton1
polymeric cytoskeletal fiber1

Protein interactions and networks

STRING

406 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KRTAP5-11KRTAP5-7Q6L8G8715
KRTAP5-11OR2G3Q8NGZ4667
KRTAP5-11OR13G1Q8NGZ3607
KRTAP5-11KRTAP4-3Q9BYR4600
KRTAP5-11OR6F1Q8NGZ6576
KRTAP5-11KRTAP4-1Q9BYQ7574
KRTAP5-11OR1C1Q15619573
KRTAP5-11OR2G2Q8NGZ5528
KRTAP5-11KRTAP6-1Q3LI64528
KRTAP5-11KRTAP19-8Q3LI54506
KRTAP5-11OR1N1Q8NGS0505
KRTAP5-11A0A3B3IRQ3A0A3B3IRQ3505
KRTAP5-11A8MUN0A8MUN0480
KRTAP5-11KRTAP22-1Q3MIV0479
KRTAP5-11KRTAP13-3Q3SY46456

IntAct

187 interactions, top by confidence:

ABTypeScore
LCE1DKRTAP5-11psi-mi:“MI:0915”(physical association)0.600
LCE1EKRTAP5-11psi-mi:“MI:0915”(physical association)0.600
KRTAP5-11LCE1Epsi-mi:“MI:0915”(physical association)0.600
CYSRT1KRTAP5-11psi-mi:“MI:0915”(physical association)0.560
KRTAP5-11KRTAP2-4psi-mi:“MI:0915”(physical association)0.560
KRTAP10-9KRTAP5-11psi-mi:“MI:0915”(physical association)0.560
KRTAP5-11CRCT1psi-mi:“MI:0915”(physical association)0.560
HOXA1KRTAP5-11psi-mi:“MI:0915”(physical association)0.560
KRTAP5-11KRTAP5-7psi-mi:“MI:0915”(physical association)0.560
POU4F2KRTAP5-11psi-mi:“MI:0915”(physical association)0.560
KRTAP10-7KRTAP5-11psi-mi:“MI:0915”(physical association)0.560
KRTAP5-11KRTAP9-3psi-mi:“MI:0915”(physical association)0.560
SMCPKRTAP5-11psi-mi:“MI:0915”(physical association)0.560
RGS20KRTAP5-11psi-mi:“MI:0915”(physical association)0.560
KRTAP5-11CATSPER1psi-mi:“MI:0915”(physical association)0.560
KRTAP1-3KRTAP5-11psi-mi:“MI:0915”(physical association)0.560
KRTAP5-11KRTAP9-2psi-mi:“MI:0915”(physical association)0.560
GLRX3KRTAP5-11psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6KRTAP5-11psi-mi:“MI:0915”(physical association)0.560
OTX1KRTAP5-11psi-mi:“MI:0915”(physical association)0.560
KRTAP5-11KRTAP9-8psi-mi:“MI:0915”(physical association)0.560
LCE2CKRTAP5-11psi-mi:“MI:0915”(physical association)0.560
KRTAP5-11NR4A3psi-mi:“MI:0915”(physical association)0.560
KRTAP10-8KRTAP5-11psi-mi:“MI:0915”(physical association)0.560
LCE1BKRTAP5-11psi-mi:“MI:0915”(physical association)0.560
KRTAP5-9KRTAP5-11psi-mi:“MI:0915”(physical association)0.560
LCE3BKRTAP5-11psi-mi:“MI:0915”(physical association)0.560
KRTAP5-11KRTAP4-4psi-mi:“MI:0915”(physical association)0.560

BioGRID (65): KRTAP5-11 (Two-hybrid), KRTAP5-11 (Two-hybrid), KRTAP5-11 (Two-hybrid), KRTAP5-11 (Two-hybrid), KRTAP5-11 (Two-hybrid), KRTAP5-11 (Two-hybrid), KRTAP5-11 (Two-hybrid), KRTAP5-11 (Two-hybrid), KRTAP5-11 (Two-hybrid), KRTAP5-11 (Two-hybrid), KRTAP5-11 (Two-hybrid), KRTAP5-11 (Two-hybrid), KRTAP5-11 (Two-hybrid), KRTAP5-11 (Two-hybrid), KRTAP5-11 (Two-hybrid)

ESM2 similar proteins: A5A6P5, A6QP35, A8MTY7, A8MVA2, A8MXZ3, O75690, P02438, P02441, P02442, P02443, P08131, P0C7H8, P26371, P59990, P59991, P60014, P60331, P60368, P60369, P60370, P60371, P60372, P60409, P60410, P60411, P60412, P60413, Q05B44, Q07627, Q3V2C1, Q6L8G4, Q6L8G8, Q6L8G9, Q6L8H2, Q701N4, Q8IUG1, Q9BQ66, Q9BYP9, Q9BYQ0, Q9BYQ2

Diamond homologs: Q6L8G4, Q6L8G8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 56 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
Keratinization3242.4×3e-47
Formation of the cornified envelope1429.3×8e-17

GO biological processes:

GO termPartnersFoldFDR
keratinization1382.2×3e-20

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance48
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1024 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
11:71582709:C:AK43N0.709
11:71582709:C:GK43N0.709
11:71582371:A:CI156S0.706
11:71582373:C:AK155N0.645
11:71582373:C:GK155N0.645
11:71582403:G:CS145R0.637
11:71582403:G:TS145R0.637
11:71582405:T:GS145R0.637
11:71582371:A:GI156T0.633
11:71582725:G:TP38H0.626
11:71582736:G:CS34R0.580
11:71582736:G:TS34R0.580
11:71582738:T:GS34R0.580
11:71582478:G:CS120R0.571
11:71582478:G:TS120R0.571
11:71582480:T:GS120R0.571
11:71582371:A:TI156N0.569
11:71582385:G:CC151W0.566

dbSNP variants (sampled 300 via entrez): RS1000959594 (11:71584619 G>A,T), RS1002154553 (11:71583731 T>G), RS1002826040 (11:71581652 C>A,T), RS1004155997 (11:71584265 C>G), RS1005229488 (11:71583559 C>T), RS1006643206 (11:71584499 T>C,G), RS1007499563 (11:71582088 C>A), RS1011442927 (11:71584544 C>T), RS1013022943 (11:71584649 G>C), RS1013461857 (11:71581793 T>G), RS1015527906 (11:71581819 G>A), RS1015580126 (11:71581661 C>G), RS1016439503 (11:71584577 C>T), RS1017278028 (11:71584278 G>A), RS1018554248 (11:71583388 T>C,G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST007000_5Logical memory (delayed recall) in mild cognitive impairment2.000000e-07

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004874memory performance

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

ChemicalActions (top 5)PubMed papers
Resveratrolaffects cotreatment, decreases expression2
Benzo(a)pyreneaffects methylation, increases methylation2
Copperaffects cotreatment, decreases expression1
Plant Extractsaffects cotreatment, decreases expression1
Valproic Acidincreases methylation1

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.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot