KRTAP4-3 keratin associated protein 4-3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRTAP4-3provided by HGNC
Official Full Name: keratin associated protein 4-3provided by HGNC
Primary source: HGNC:HGNC:18908
See related: Ensembl:ENSG00000196156 AllianceGenome:HGNC:18908
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: KAP4.3
Summary: Involved in aging and hair cycle. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

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 (41167231..41168221, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (42032990..42034085, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (39323483..39324473, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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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Markers

NoName (e-PCR)
- UniSTS:481046

NoName (e-PCR)
- UniSTS:482101

NoName (e-PCR)
- UniSTS:482170

NoName (e-PCR)
- UniSTS:484076

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in hair cycle	IDA Inferred from Direct Assay 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 4-3

Names: keratin-associated protein 4.3; ultrahigh sulfur keratin-associated protein 4.3

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)

NM_033187.2 → NP_149443.1 keratin-associated protein 4-3

See identical proteins and their annotated locations for NP_149443.1

Status: VALIDATED

Source sequence(s)

AC006070, AJ406935

Consensus CDS

CCDS42331.1

UniProtKB/Swiss-Prot

Q9BYR4

Related

ENSP00000375151.2, ENST00000391356.4

Conserved Domains (2) summary

pfam01500
Location:3 → 154

Keratin_B2; Keratin, high sulfur B2 protein

pfam13885
Location:69 → 113

Keratin_B2_2; Keratin, high sulfur B2 protein