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KRTAP4-1 keratin associated protein 4-1 [ Homo sapiens (human) ]

Gene ID: 85285, updated on 7-Apr-2024

Summary

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Official Symbol
KRTAP4-1provided by HGNC
Official Full Name
keratin associated protein 4-1provided by HGNC
Primary source
HGNC:HGNC:18907
See related
Ensembl:ENSG00000198443 AllianceGenome:HGNC:18907
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
KAP4.1; KAP4.10; KRTAP4-10; KRTAP4.10
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. [provided by RefSeq, Jul 2008]
Annotation information
Annotation category: suggests misassembly
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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See KRTAP4-1 in Genome Data Viewer
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 (41184100..41184911, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42049959..42050710, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39340352..39341163, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene keratin associated protein 4-3 Neighboring gene keratin associated protein 4-2 Neighboring gene keratin associated protein 4-17, pseudogene Neighboring gene keratin associated protein 9-1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene family. Kariya N, et al. J Invest Dermatol, 2005 Jun. PMID 15955084
  2. 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
  3. The Oncogenic PRL Protein Causes Acid Addiction of Cells by Stimulating Lysosomal Exocytosis. Funato Y, et al. Dev Cell, 2020 Nov 23. PMID 32918875
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

See all (6) citations in PubMed

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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC118980, MGC118981

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 keratin filament IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
keratin-associated protein 4-1
Names
keratin associated protein 4-10
keratin-associated protein 4.1
ultrahigh sulfur keratin-associated protein 4.10

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_001386841.1 → NP_001373770.1  keratin-associated protein 4-1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC006070
    Consensus CDS
    CCDS92305.1
    UniProtKB/Swiss-Prot
    A8MWS7, Q3SYF2, Q9BYQ7
    Related
    ENSP00000381489.1, ENST00000398472.2
    Conserved Domains (1) summary
    pfam01500
    Location:7 → 141
    Keratin_B2; Keratin, high sulfur B2 protein

  2. NM_033060.3 → NP_149049.2  keratin-associated protein 4-1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC006070
    Conserved Domains (1) summary
    pfam01500
    Location:7 → 127
    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
    41184100..41184911 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791801.1 Reference GRCh38.p14 PATCHES

    Range
    134345..135096 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    42049959..42050710 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYQ7.3 GenPept UniProtKB/Swiss-Prot:Q9BYQ7

Gene LinkOut

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