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KRTAP9-9 keratin associated protein 9-9 [ Homo sapiens (human) ]

Gene ID: 81870, updated on 8-Nov-2023

Summary

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Official Symbol
KRTAP9-9provided by HGNC
Official Full Name
keratin associated protein 9-9provided by HGNC
Primary source
HGNC:HGNC:16773
See related
Ensembl:ENSG00000198083 AllianceGenome:HGNC:16773
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
KAP9.5; KAP9.9; KRTAP9-5; KRTAP9.9
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. Alternative haplotypes of this gene are represented in the GRCh38 reference genome assembly. [provided by RefSeq, Dec 2015]
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Genomic context

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Location:
17q21.2
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41255384..41256364)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42121135..42122130)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39411636..39412616)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene keratin associated protein 9-8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39405666-39406220 Neighboring gene keratin associated protein 9-4 Neighboring gene keratin associated protein 9-6 Neighboring gene keratin associated protein 9-11, pseudogene

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. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. Drissi R, et al. Mol Cell Proteomics, 2015 Jul. PMID 25963833, 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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Gene Ontology Provided by GOA

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 9-9
Names
keratin-associated protein 9-5
keratin-associated protein 9.5
ultrahigh sulfur keratin-associated protein 9.9

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_001318227.2 → NP_001305156.1  keratin-associated protein 9-9 isoform KRTAP9.9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (KRTAP9.9) represents the longer transcript and encodes the longer isoform (KRTAP9.9). It is produced from an alternate haplotype that is represented by the ALT_REF_LOCI_1 assembly unit of the GRCh38 reference genome assembly.
    Source sequence(s)
    AC277787
    UniProtKB/Swiss-Prot
    Q9BYP9
    Conserved Domains (1) summary
    pfam13885
    Location:37 → 81
    Keratin_B2_2; Keratin, high sulfur B2 protein

  2. NM_030975.2 → NP_112237.2  keratin-associated protein 9-9 isoform KRTAP9.5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (KRTAP9.5) lacks an in-frame segment of the 5' coding region and includes a base change in the 3' UTR, compared to variant KRTAP9.9. The encoded isoform (KRTAP9.5) is 5 aa shorter than isoform KRTAP9.9. This variant is produced from the primary chromosome 17 assembly unit of the GRCh38 reference genome assembly.
    Source sequence(s)
    AC006070
    Consensus CDS
    CCDS54127.1
    UniProtKB/Swiss-Prot
    Q9BYP9
    Related
    ENSP00000377576.1, ENST00000394008.1
    Conserved Domains (2) summary
    pfam01500
    Location:12 → 168
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam13885
    Location:32 → 76
    Keratin_B2_2; Keratin, high sulfur B2 protein

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    41255384..41256364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791801.1 Reference GRCh38.p14 PATCHES

    Range
    205514..206509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003871092.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    40474..41469 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NW_003871093.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    50746..51726 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    42121135..42122130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYP9.1 GenPept UniProtKB/Swiss-Prot:Q9BYP9

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