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KRTAP19-6 keratin associated protein 19-6 [ Homo sapiens (human) ]

Gene ID: 337973, updated on 2-Nov-2024

Summary

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Official Symbol
KRTAP19-6provided by HGNC
Official Full Name
keratin associated protein 19-6provided by HGNC
Primary source
HGNC:HGNC:18941
See related
Ensembl:ENSG00000186925 AllianceGenome:HGNC:18941
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
KAP19.6
Summary
Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs
all
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Genomic context

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See KRTAP19-6 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 (30541535..30541864, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (28907495..28907823, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (31913854..31914183, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene keratin associated protein 19-10, pseudogene Neighboring gene keratin associated protein 19-11, pseudogene Neighboring gene keratin associated protein 19-7 Neighboring gene keratin associated protein 22-2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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 Variation Viewer (GRCh37.p13)

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 19-6

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_001303120.1 → NP_001290049.1  keratin-associated protein 19-6 isoform KRTAP19-6-V2

    See identical proteins and their annotated locations for NP_001290049.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (KRTAP19-6-V2), which is produced by a polymorphic allele found in the alternate CHM1_1.1 and HuRef genome assemblies, differs at a single nucleotide position (reference SNP rs1023364) and contains a 1-nucleotide deletion (reference SNP rs5843453), resulting in a longer 3' coding region, compared to variant KRTAP19-6-V1. The encoded isoform (KRTAP19-6-V2) has a distinct and longer C-terminus, compared to isoform KRTAP19-6-V1.
    Source sequence(s)
    AB096948, BC101815
    UniProtKB/TrEMBL
    A4FU57

  2. NM_181612.3 → NP_853643.1  keratin-associated protein 19-6 isoform KRTAP19-6-V1

    See identical proteins and their annotated locations for NP_853643.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (KRTAP19-6-V1), which is produced by the primary reference genome allele, represents the longer transcript and encodes the shorter isoform (KRTAP19-6-V1).
    Source sequence(s)
    AB096947, AP000567, BC101813
    Consensus CDS
    CCDS13598.1
    UniProtKB/Swiss-Prot
    Q3LI70, Q3LI71
    Related
    ENSP00000375107.3, ENST00000334046.5

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
    30541535..30541864 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    28907495..28907823 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3LI70.2 GenPept UniProtKB/Swiss-Prot:Q3LI70

Gene LinkOut

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