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KRTAP5-4 keratin associated protein 5-4 [ Homo sapiens (human) ]

Gene ID: 387267, updated on 7-Apr-2024

Summary

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Official Symbol
KRTAP5-4provided by HGNC
Official Full Name
keratin associated protein 5-4provided by HGNC
Primary source
HGNC:HGNC:23599
See related
Ensembl:ENSG00000241598 AllianceGenome:HGNC:23599
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
KRTAP5.4
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 KRTAP5-4 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 (1620958..1622138, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (1704817..1706175, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1642188..1643368, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene KRTAP5-1/KRTAP5-2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1618727-1619300 Neighboring gene keratin associated protein 5-2 Neighboring gene keratin associated protein 5-3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:1640412-1641611 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1653741-1654240 Neighboring gene keratin associated protein 5-5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1676043-1676647 Neighboring gene uncharacterized LOC124902609

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. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

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 5-4
Names
keratin-associated protein 5.4
ultrahigh sulfur keratin-associated protein 5.4

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_001012709.1 → NP_001012727.1  keratin-associated protein 5-4 isoform 2

    See identical proteins and their annotated locations for NP_001012727.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents an alternate allele present on GRCh38 ALT_REF_LOCI_2. This variant contains a 180 nt in-frame segment in the coding region, compared to the allele (variant 1) present on the primary assembly. It encodes a longer protein (isoform 2) that has additional cysteine-rich repeats, compared to isoform 1.
    Source sequence(s)
    AB126073
    UniProtKB/Swiss-Prot
    Q6L8H1

  2. NM_001347674.1 → NP_001334603.1  keratin-associated protein 5-4 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the allele present in the GRCh38 primary assembly. It encodes isoform 1.
    Source sequence(s)
    AP006285
    Consensus CDS
    CCDS86161.1
    UniProtKB/TrEMBL
    A8MUN0
    Related
    ENSP00000382590.1, ENST00000399682.1

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
    1620958..1622138 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791792.1 Reference GRCh38.p14 PATCHES

    Range
    360934..362114 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187584.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    103195..104375 complement
    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
    97515..98873 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    1704817..1706175 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6L8H1.1 GenPept UniProtKB/Swiss-Prot:Q6L8H1

Gene LinkOut

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Chemical Information
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