KRT71 keratin 71 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT71provided by HGNC
Official Full Name: keratin 71provided by HGNC
Primary source: HGNC:HGNC:28927
See related: Ensembl:ENSG00000139648 MIM:608245; AllianceGenome:HGNC:28927
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: HYPT13; K6IRS1; KRT6IRS; KRT6IRS1
Summary: Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 12q13.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52543909..52553145, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52508507..52517743, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (52937693..52946929, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Demonstration of the heterozygous mutation c.422T>G (p.Phe141Cys) within the helix initiation motif of the inner root sheath-specific keratin K71 (KRT71) gene in affected family members with autosomal dominant woolly hair/hypotrichosis.
Title: A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.
A novel epithelial keratin, hK6irs1, is expressed differentially in all layers of the inner root sheath, including specialized huxley cells (Flugelzellen) of the human hair follicle.(HK6IRS1)
Title: A novel epithelial keratin, hK6irs1, is expressed differentially in all layers of the inner root sheath, including specialized huxley cells (Flügelzellen) of the human hair follicle.

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

Associated conditions

Description	Tests
Hypotrichosis 13 MedGen: C4014616 OMIM: 615896 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH99054 (e-PCR)
- UniSTS:87884

NoName (e-PCR)
- UniSTS:480923

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of skin epidermis	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in hair follicle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermediate filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in keratinization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in keratin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in keratin filament	IDA Inferred from Direct Assay more info	PubMed
located_in keratin filament	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: keratin, type II cytoskeletal 71

Names: CK-71; K71; cytokeratin-71; hK6irs; hK6irs1; keratin 6 irs; keratin 71, type II; type II inner root sheath-specific keratin-K6irs1; type-II keratin Kb34

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.

Genomic

NG_012426.1 RefSeqGene

Range

5003..14239

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_033448.3 → NP_258259.1 keratin, type II cytoskeletal 71

Status: REVIEWED

Source sequence(s)

AJ308599, AK122795

Consensus CDS

CCDS8831.1

UniProtKB/Swiss-Prot

B3KVC1, Q3SY84, Q3SY85, Q96DU2

Related

ENSP00000267119.5, ENST00000267119.6

Conserved Domains (3) summary

pfam00038
Location:129 → 442

Filament; Intermediate filament protein

pfam16208
Location:16 → 126

Keratin_2_head; Keratin type II head

cl19885
Location:198 → 423

Sec6; Exocyst complex component Sec6