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

    Gene ID: 387267, updated on 17-Aug-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

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

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