KRT7 keratin 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT7provided by HGNC
Official Full Name: keratin 7provided by HGNC
Primary source: HGNC:HGNC:6445
See related: Ensembl:ENSG00000135480 MIM:148059; AllianceGenome:HGNC:6445
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: K7; CK7; SCL; K2C7
Summary: The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
Expression: Biased expression in thyroid (RPKM 146.2), placenta (RPKM 75.4) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52233243..52255853)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52196307..52215830)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (52627027..52642705)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of the KRT7 Biomarker in Immune Infiltration and Paclitaxel Resistance in Ovarian.
Title: Role of the KRT7 Biomarker in Immune Infiltration and Paclitaxel Resistance in Ovarian.
Colonocyte keratin 7 is expressed de novo in inflammatory bowel diseases and associated with pathological changes and drug-resistance.
Title: Colonocyte keratin 7 is expressed de novo in inflammatory bowel diseases and associated with pathological changes and drug-resistance.
Aberrant cytokeratin 7 expression by hepatocytes can predict the ductopenia grade in primary biliary cholangitis.
Title: Aberrant cytokeratin 7 expression by hepatocytes can predict the ductopenia grade in primary biliary cholangitis.
A triple-classification for differentiating renal oncocytoma from renal cell carcinoma subtypes and CK7 expression evaluation: a radiomics analysis.
Title: A triple-classification for differentiating renal oncocytoma from renal cell carcinoma subtypes and CK7 expression evaluation: a radiomics analysis.
Construction of a novel model based on cell-in-cell-related genes and validation of KRT7 as a biomarker for predicting survival and immune microenvironment in pancreatic cancer.
Title: Construction of a novel model based on cell-in-cell-related genes and validation of KRT7 as a biomarker for predicting survival and immune microenvironment in pancreatic cancer.
Expression Level of Keratin 7 in Epithelial Ovarian Cancer and Malignant Metastasis of Benign Epithelial Ovarian Tumors.
Title: Expression Level of Keratin 7 in Epithelial Ovarian Cancer and Malignant Metastasis of Benign Epithelial Ovarian Tumors.
Cytokeratin 7 and cytokeratin 20 expression in cancer: A tissue microarray study on 15,424 cancers.
Title: Cytokeratin 7 and cytokeratin 20 expression in cancer: A tissue microarray study on 15,424 cancers.
Oncocytic renal neoplasms with diffuse keratin 7 immunohistochemistry harbor frequent alterations in the mammalian target of rapamycin pathway.
Title: Oncocytic renal neoplasms with diffuse keratin 7 immunohistochemistry harbor frequent alterations in the mammalian target of rapamycin pathway.
Biomarkers CDX2, CK20, CK7 in Schoolchildren with Gastritis in the Realization of Familial Predisposition of Stomach Cancer.
Title: Biomarkers CDX2, CK20, CK7 in Schoolchildren with Gastritis in the Realization of Familial Predisposition of Stomach Cancer.
A Study of Cytokeratin-7 Expression and Clinicopathological Correlation in Dysplasia and Squamous Cell Carcinoma of the Cervix.
Title: A Study of Cytokeratin-7 Expression and Clinicopathological Correlation in Dysplasia and Squamous Cell Carcinoma of the Cervix.

Submit: New GeneRIF Correction See all GeneRIFs (111)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L18426 (e-PCR)
- UniSTS:34648

D1S1423 (e-PCR)
- UniSTS:149619

D12S368 (e-PCR), detects polymorphism
- UniSTS:46712

D12S368 (e-PCR), detects polymorphism
- UniSTS:9082

SGC33015 (e-PCR)
- UniSTS:51375

D12S763 (e-PCR)
- UniSTS:148914

SHGC-150981 (e-PCR)
- UniSTS:173490

SHGC-144573 (e-PCR)
- UniSTS:172287

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 intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in keratinization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in intermediate filament	NAS Non-traceable Author Statement more info	PubMed
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info
is_active_in keratin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: keratin, type II cytoskeletal 7

Names: CK-7; cytokeratin 7; keratin 7, type II; keratin, 55K type II cytoskeletal; keratin, simple epithelial type I, K7; sarcolectin; type II mesothelial keratin K7; type-II keratin Kb7

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_012296.1 RefSeqGene

Range

5074..20752

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005556.4 → NP_005547.3 keratin, type II cytoskeletal 7

See identical proteins and their annotated locations for NP_005547.3

Status: REVIEWED

Source sequence(s)

AC021066, BC002700, BE740515, BE744321

Consensus CDS

CCDS8822.1

UniProtKB/Swiss-Prot

P08729, Q92676, Q9BUD8, Q9Y3R7

UniProtKB/TrEMBL

B3KY79

Related

ENSP00000329243.5, ENST00000331817.6

Conserved Domains (3) summary

pfam00038
Location:90 → 402

Filament; Intermediate filament protein

pfam13312
Location:15 → 95

DUF4081; Domain of unknown function (DUF4081)

pfam16208
Location:1 → 87

Keratin_2_head; Keratin type II head

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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

52233243..52255853

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011538325.3 → XP_011536627.1 keratin, type II cytoskeletal 7 isoform X1

UniProtKB/TrEMBL

B3KY79

Conserved Domains (4) summary

pfam00038
Location:90 → 402

Filament; Intermediate filament protein

pfam13312
Location:15 → 95

DUF4081; Domain of unknown function (DUF4081)

pfam16208
Location:1 → 87

Keratin_2_head; Keratin type II head

pfam16888
Location:142 → 249

DUF5082; Domain of unknown function (DUF5082)
XM_047428827.1 → XP_047284783.1 keratin, type II cytoskeletal 7 isoform X2
XM_017019294.2 → XP_016874783.1 keratin, type II cytoskeletal 7 isoform X3