KRTAP4-8 keratin associated protein 4-8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRTAP4-8provided by HGNC
Official Full Name: keratin associated protein 4-8provided by HGNC
Primary source: HGNC:HGNC:17230
See related: Ensembl:ENSG00000204880 AllianceGenome:HGNC:17230
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: KAP4.8; KRTAP4.8
Summary: Involved in aging and hair cycle. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: 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 (41096981..41098142, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (41961756..41962929, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (39253233..39254394, 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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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 4-8

Names: keratin associated protein 4.8; ultrahigh sulfur keratin-associated protein 4.8

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_001322457.1 → NP_001309386.1 keratin-associated protein 4-8 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents an alternate allele located on the reference alternate locus, ALT_REF_LOCI_1.

Source sequence(s)

AC037482

UniProtKB/TrEMBL

A0A0G2JLE6

Conserved Domains (2) summary

pfam01500
Location:5 → 114

Keratin_B2; Keratin, high sulfur B2 protein

pfam13885
Location:69 → 113

Keratin_B2_2; Keratin, high sulfur B2 protein
NM_031960.3 → NP_114166.1 keratin-associated protein 4-8 isoform 1

See identical proteins and their annotated locations for NP_114166.1

Status: VALIDATED

Source sequence(s)

AC100808

Consensus CDS

CCDS45674.1

UniProtKB/Swiss-Prot

A8MSH3, Q9BYQ9

Related

ENSP00000328444.4, ENST00000333822.5

Conserved Domains (2) summary

pfam01500
Location:42 → 184

Keratin_B2; Keratin, high sulfur B2 protein

pfam13885
Location:59 → 103

Keratin_B2_2; Keratin, high sulfur B2 protein