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KRTAP5-6 keratin associated protein 5-6 [ Homo sapiens (human) ]

Gene ID: 440023, updated on 7-Apr-2024

Summary

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Official Symbol
KRTAP5-6provided by HGNC
Official Full Name
keratin associated protein 5-6provided by HGNC
Primary source
HGNC:HGNC:23600
See related
Ensembl:ENSG00000205864 AllianceGenome:HGNC:23600
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KRTAP5.6
Summary
Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
all
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Genomic context

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See KRTAP5-6 in Genome Data Viewer
Location:
11p15.5
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1697195..1697755)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (1782734..1783294)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1718425..1718985)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1706195-1706964 Neighboring gene family with sequence similarity 99 member B Neighboring gene long intergenic non-protein coding RNA 2708 Neighboring gene interferon induced transmembrane protein 10 Neighboring gene skeletal muscle cis-regulatory module in IFITM10 intron Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1770125-1770880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1770881-1771636 Neighboring gene cathepsin D Neighboring gene PRC2 and DDX5 associated lncRNA

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11. Yahagi S, et al. Biochem Biophys Res Commun, 2004 Jun 4. PMID 15144888
  2. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article
  3. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
  4. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in intermediate filament IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
keratin-associated protein 5-6
Names
keratin-associated protein 5.6
ultrahigh sulfur keratin-associated protein 5.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001012416.1 → NP_001012416.1  keratin-associated protein 5-6

    See identical proteins and their annotated locations for NP_001012416.1

    Status: VALIDATED

    Source sequence(s)
    AB126075
    Consensus CDS
    CCDS31332.1
    UniProtKB/Swiss-Prot
    A1L452, Q6L8G9
    Related
    ENSP00000371595.1, ENST00000382160.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    1697195..1697755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187657.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    170941..171501
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    1782734..1783294
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6L8G9.1 GenPept UniProtKB/Swiss-Prot:Q6L8G9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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