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KRTAP2-1 keratin associated protein 2-1 [ Homo sapiens (human) ]

Gene ID: 81872, updated on 5-Mar-2024

Summary

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Official Symbol
KRTAP2-1provided by HGNC
Official Full Name
keratin associated protein 2-1provided by HGNC
Primary source
HGNC:HGNC:16775
See related
Ensembl:ENSG00000212725 AllianceGenome:HGNC:16775
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
KAP2.1A; KRTAP2.1A
Summary
Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
all
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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 (41046541..41047316, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (41911025..41911800, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39202793..39203568, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene keratin associated protein 1-3 Neighboring gene keratin associated protein 1-1 Neighboring gene keratin associated protein 2-2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39215536-39216110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39216111-39216685 Neighboring gene keratin associated protein 2-3

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. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, 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

General gene information

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Homology

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 2-1
Names
high sulfur keratin-associated protein 2.1
keratin associated protein KRTAP2.1A
keratin-associated protein 2.1

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_001123387.1 → NP_001116859.1  keratin-associated protein 2-1

    See identical proteins and their annotated locations for NP_001116859.1

    Status: VALIDATED

    Source sequence(s)
    AC007455
    Consensus CDS
    CCDS42325.1
    UniProtKB/Swiss-Prot
    Q9BYU5
    Related
    ENSP00000375238.3, ENST00000391419.3
    Conserved Domains (1) summary
    pfam01500
    Location:2 → 128
    Keratin_B2; 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
    41046541..41047316 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003871091.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    195934..196709 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    41911025..41911800 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_030977.1: Suppressed sequence

    Description
    NM_030977.1: This RefSeq was permanently suppressed because it was based on a sequence from a different locus.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYU5.2 GenPept UniProtKB/Swiss-Prot:Q9BYU5

Gene LinkOut

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