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KRTAP10-12 keratin associated protein 10-12 [ Homo sapiens (human) ]

Gene ID: 386685, updated on 2-Nov-2024

Summary

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Official Symbol
KRTAP10-12provided by HGNC
Official Full Name
keratin associated protein 10-12provided by HGNC
Primary source
HGNC:HGNC:20533
See related
Ensembl:ENSG00000189169 AllianceGenome:HGNC:20533
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
KAP10.12; KRTAP18-12; KRTAP18.12
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 KRTAP10-12 in Genome Data Viewer
Location:
21q22.3
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44697172..44698044)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (43057612..43058484)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (46117087..46117959)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene thrombospondin type laminin G domain and EAR repeats Neighboring gene keratin associated protein 12-1 Neighboring gene keratin associated protein 12-5, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46116947-46117626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46117627-46118306 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46122289-46123024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46123025-46123760 Neighboring gene keratin associated protein 10-13, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46129182-46129922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46129923-46130663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46130677-46131447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46150268-46150768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46150769-46151269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46151907-46152582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46152583-46153258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46155285-46155958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46155959-46156634 Neighboring gene Sharpr-MPRA regulatory region 5612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46184321-46184886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46185571-46186334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46186335-46187098 Neighboring gene Sharpr-MPRA regulatory region 676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46188940-46189440 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:46208307-46208531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18575 Neighboring gene ubiquitin conjugating enzyme E2 G2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:46220961-46221916

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. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. Shibuya K, et al. Genomics, 2004 Apr. PMID 15028290
  2. The DNA sequence of human chromosome 21. Hattori M, et al. Nature, 2000 May 18. PMID 10830953
  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 10-12
Names
high sulfur keratin-associated protein 10.12
keratin-associated protein 18-12

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_198699.1 → NP_941972.1  keratin-associated protein 10-12

    See identical proteins and their annotated locations for NP_941972.1

    Status: VALIDATED

    Source sequence(s)
    AB076364
    Consensus CDS
    CCDS42967.1
    UniProtKB/Swiss-Prot
    B2RPA3, P60413
    Related
    ENSP00000383216.3, ENST00000400365.3
    Conserved Domains (2) summary
    pfam01500
    Location:83 → 245
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam13885
    Location:84 → 127
    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    44697172..44698044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    43057612..43058484
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P60413.1 GenPept UniProtKB/Swiss-Prot:P60413

Gene LinkOut

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