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KRTAP20-3 keratin associated protein 20-3 [ Homo sapiens (human) ]

Gene ID: 337985, updated on 2-Nov-2024

Summary

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Official Symbol
KRTAP20-3provided by HGNC
Official Full Name
keratin associated protein 20-3provided by HGNC
Primary source
HGNC:HGNC:34001
See related
Ensembl:ENSG00000206104 AllianceGenome:HGNC:34001
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
KAP19D; KAP20.3; KRTAP19P4
Summary
Predicted to be located in intermediate filament. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs
all
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Genomic context

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See KRTAP20-3 in Genome Data Viewer
Location:
21q22.11
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (30642864..30643136)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (29009802..29010074)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (32015183..32015455)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene keratin associated protein 20-4 Neighboring gene keratin associated protein 20-2 Neighboring gene uncharacterized LOC105372773 Neighboring gene keratin associated protein 21-3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:32114040-32114540 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:32114541-32115041 Neighboring gene keratin associated protein 21-4, 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 first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. Rogers MA, et al. J Biol Chem, 2002 Dec 13. PMID 12359730
  2. The DNA sequence of human chromosome 21. Hattori M, et al. Nature, 2000 May 18. PMID 10830953

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)

General gene information

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Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in intermediate filament IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
keratin-associated protein 20-3
Names
keratin associated protein 19 pseudogene 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_001128077.1 → NP_001121549.1  keratin-associated protein 20-3

    See identical proteins and their annotated locations for NP_001121549.1

    Status: VALIDATED

    Source sequence(s)
    AP001069
    Consensus CDS
    CCDS46642.1
    UniProtKB/Swiss-Prot
    Q3LI60
    Related
    ENSP00000372276.2, ENST00000382826.2

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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    30642864..30643136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    29009802..29010074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_002672.3: Suppressed sequence

    Description
    NG_002672.3: This RefSeq was permanently suppressed because it is now thought that this gene encodes a protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3LI60.1 GenPept UniProtKB/Swiss-Prot:Q3LI60

Gene LinkOut

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

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