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    KRTAP4-1 keratin associated protein 4-1 [ Homo sapiens (human) ]

    Gene ID: 85285, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KRTAP4-1provided by HGNC
    Official Full Name
    keratin associated protein 4-1provided by HGNC
    Primary source
    HGNC:HGNC:18907
    See related
    Ensembl:ENSG00000198443 AllianceGenome:HGNC:18907
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KAP4.1; KAP4.10; KRTAP4-10; KRTAP4.10
    Summary
    This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]
    Annotation information
    Annotation category: suggests misassembly
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See KRTAP4-1 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41184100..41184911, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42049959..42050710, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39340352..39341163, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene keratin associated protein 4-3 Neighboring gene keratin associated protein 4-2 Neighboring gene keratin associated protein 4-17, pseudogene Neighboring gene keratin associated protein 9-1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene family. Kariya N, et al. J Invest Dermatol, 2005 Jun. PMID 15955084
    2. Characterization of a cluster of human high/ultrahigh sulfur keratin-associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21. Rogers MA, et al. J Biol Chem, 2001 Jun 1. PMID 11279113
    3. The Oncogenic PRL Protein Causes Acid Addiction of Cells by Stimulating Lysosomal Exocytosis. Funato Y, et al. Dev Cell, 2020 Nov 23. PMID 32918875
    4. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, 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 (7) 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)

    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

    Clone Names

    • MGC118980, MGC118981

    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 keratin filament IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    keratin-associated protein 4-1
    Names
    keratin associated protein 4-10
    keratin-associated protein 4.1
    ultrahigh sulfur keratin-associated protein 4.10

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001386841.1 → NP_001373770.1  keratin-associated protein 4-1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC006070
      Consensus CDS
      CCDS92305.1
      UniProtKB/Swiss-Prot
      A8MWS7, Q3SYF2, Q9BYQ7
      Related
      ENSP00000381489.1, ENST00000398472.2
      Conserved Domains (1) summary
      pfam01500
      Location:7 → 141
      Keratin_B2; Keratin, high sulfur B2 protein

    2. NM_033060.3 → NP_149049.2  keratin-associated protein 4-1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC006070
      Conserved Domains (1) summary
      pfam01500
      Location:7 → 127
      Keratin_B2; Keratin, high sulfur B2 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      41184100..41184911 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791801.1 Reference GRCh38.p14 PATCHES

      Range
      134345..135096 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      42049959..42050710 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYQ7.3 GenPept UniProtKB/Swiss-Prot:Q9BYQ7

    Gene LinkOut

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

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