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    KRTAP16-1 keratin associated protein 16-1 [ Homo sapiens (human) ]

    Gene ID: 100505753, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KRTAP16-1provided by HGNC
    Official Full Name
    keratin associated protein 16-1provided by HGNC
    Primary source
    HGNC:HGNC:18916
    See related
    Ensembl:ENSG00000212657 AllianceGenome:HGNC:18916
    Gene type
    protein coding
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KAP16.1
    Summary
    Predicted to enable structural molecule activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    mouse all
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    Genomic context

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    See KRTAP16-1 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 (41307700..41309309, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42163204..42164813, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39463952..39465561, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene keratin associated protein 9-10, pseudogene Neighboring gene keratin associated like protein 29-1 Neighboring gene keratin associated protein 17-1 Neighboring gene TBC1 domain family member 3 pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39485793-39486362

    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. 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
    2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody MC, et al. Nature, 2006 Apr 20. PMID 16625196, Free PMC Article
    3. The DNA sequence of human chromosome 21. Hattori M, et al. Nature, 2000 May 18. PMID 10830953
    4. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article
    5. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995

    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)

    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 structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 16-1
    Names
    putative keratin-associated protein 10-like ENSP00000375147

    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_001146182.2 → NP_001139654.1  keratin-associated protein 16-1

      See identical proteins and their annotated locations for NP_001139654.1

      Status: INFERRED

      Source sequence(s)
      AC003958
      Consensus CDS
      CCDS56032.1
      UniProtKB/Swiss-Prot
      A8MUX0
      Related
      ENSP00000375147.1, ENST00000391352.2
      Conserved Domains (3) summary
      pfam01500
      Location:83 → 241
      Keratin_B2; Keratin, high sulfur B2 protein
      pfam05287
      Location:4 → 148
      PMG; PMG protein
      pfam13885
      Location:128 → 172
      Keratin_B2_2; 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
      41307700..41309309 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791801.1 Reference GRCh38.p14 PATCHES

      Range
      247588..249197 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315953.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      130952..132561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      42163204..42164813 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MUX0.1 GenPept UniProtKB/Swiss-Prot:A8MUX0

    Gene LinkOut

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

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