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    KRT72 keratin 72 [ Homo sapiens (human) ]

    Gene ID: 140807, updated on 14-Nov-2024

    Summary

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    Official Symbol
    KRT72provided by HGNC
    Official Full Name
    keratin 72provided by HGNC
    Primary source
    HGNC:HGNC:28932
    See related
    Ensembl:ENSG00000170486 MIM:608246; AllianceGenome:HGNC:28932
    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
    K72; KRT6; CK-72; K6irs; K6IRS2; KRT6IRS2
    Summary
    Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins 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 gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009]
    Expression
    Biased expression in testis (RPKM 10.2), skin (RPKM 2.1) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KRT72 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52585589..52602953, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52550180..52567550, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52979373..52995247, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52941449-52941950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52941951-52942450 Neighboring gene keratin 71 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29072 Neighboring gene keratin 74 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29100 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29110 Neighboring gene KRT73 antisense RNA 1 Neighboring gene keratin 73 Neighboring gene keratin 128, pseudogene

    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 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?
    1. circ-Keratin 6c Promotes Malignant Progression and Immune Evasion of Colorectal Cancer through microRNA-485-3p/Programmed Cell Death Receptor Ligand 1 Axis.
      Title: circ-Keratin 6c Promotes Malignant Progression and Immune Evasion of Colorectal Cancer through microRNA-485-3p/Programmed Cell Death Receptor Ligand 1 Axis.
    2. Ozone therapy promotes the differentiation of basal keratinocytes via increasing Tp63-mediated transcription of KRT10 to improve psoriasis.
      Title: Ozone therapy promotes the differentiation of basal keratinocytes via increasing Tp63-mediated transcription of KRT10 to improve psoriasis.
    3. the luminal cells of adenoid cystic carcinoma show a unique aberrant staining pattern for cytokeratin 5/6 that may aid in the differential diagnosis
      Title: The unique luminal staining pattern of cytokeratin 5/6 in adenoid cystic carcinoma of the breast may aid in differentiating it from its mimickers.
    4. the results of CK5/6 and p63 in CNBs of papillary neoplasms were mostly representative of the final results for CK5/6 and p63 in subsequent surgical excisions, excisional biopsy is required for definitive subtyping
      Title: Comparison of immunohistochemical staining in breast papillary neoplasms of cytokeratin 5/6 and p63 in core needle biopsies and surgical excisions.
    5. we suggest that keratin 5/6 and bcl-2 should not be used to identify benign glands in prostate biopsy
      Title: Reliability of the 34βE12, keratin 5/6, p63, bcl-2, and AMACR in the diagnosis of prostate carcinoma.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC142246

    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 cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in keratin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    keratin, type II cytoskeletal 72
    Names
    cytokeratin-72
    keratin 6, inner root sheath, 2
    keratin 72, type II
    keratin protein K6irs
    type II inner root sheath-specific keratin-K6irs2
    type-II keratin Kb35

    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

    1. NG_012427.1 RefSeqGene

      Range
      5076..20950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001146225.2 → NP_001139697.1  keratin, type II cytoskeletal 72 isoform 1

      See identical proteins and their annotated locations for NP_001139697.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK093060, AK293645, BC113686, BX089867
      Consensus CDS
      CCDS8833.1
      UniProtKB/Swiss-Prot
      B4DEI8, H9KV51, Q14CN4, Q8NA87, Q8WWY9, Q8WWZ0
      Related
      ENSP00000441160.2, ENST00000537672.6
      Conserved Domains (3) summary
      pfam00038
      Location:124 → 437
      Filament; Intermediate filament protein
      pfam16208
      Location:15 → 121
      Keratin_2_head; Keratin type II head
      cl19219
      Location:233 → 413
      DUF342; Protein of unknown function (DUF342)

    2. NM_001146226.2 → NP_001139698.1  keratin, type II cytoskeletal 72 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) missing a 42 aa protein segment compared to isoform 1.
      Source sequence(s)
      AK293645, AY033495, BC113686, BX089867
      Consensus CDS
      CCDS53795.1
      UniProtKB/Swiss-Prot
      Q14CN4
      Related
      ENSP00000346269.4, ENST00000354310.4
      Conserved Domains (2) summary
      pfam00038
      Location:124 → 395
      Filament; Intermediate filament protein
      pfam16208
      Location:15 → 121
      Keratin_2_head; Keratin type II head

    3. NM_080747.3 → NP_542785.1  keratin, type II cytoskeletal 72 isoform 1

      See identical proteins and their annotated locations for NP_542785.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK293645, AY033495, BC113686, BX089867
      Consensus CDS
      CCDS8833.1
      UniProtKB/Swiss-Prot
      B4DEI8, H9KV51, Q14CN4, Q8NA87, Q8WWY9, Q8WWZ0
      Related
      ENSP00000293745.2, ENST00000293745.7
      Conserved Domains (3) summary
      pfam00038
      Location:124 → 437
      Filament; Intermediate filament protein
      pfam16208
      Location:15 → 121
      Keratin_2_head; Keratin type II head
      cl19219
      Location:233 → 413
      DUF342; Protein of unknown function (DUF342)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      52585589..52602953 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428323.1 → XP_047284279.1  keratin, type II cytoskeletal 72 isoform X3

    2. XM_047428322.1 → XP_047284278.1  keratin, type II cytoskeletal 72 isoform X2

    3. XM_047428324.1 → XP_047284280.1  keratin, type II cytoskeletal 72 isoform X4

    4. XM_047428321.1 → XP_047284277.1  keratin, type II cytoskeletal 72 isoform X1

    5. XM_047428325.1 → XP_047284281.1  keratin, type II cytoskeletal 72 isoform X5

      UniProtKB/TrEMBL
      B4DXK4

    6. XM_047428326.1 → XP_047284282.1  keratin, type II cytoskeletal 72 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52550180..52567550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371146.1 → XP_054227121.1  keratin, type II cytoskeletal 72 isoform X3

    2. XM_054371145.1 → XP_054227120.1  keratin, type II cytoskeletal 72 isoform X2

    3. XM_054371147.1 → XP_054227122.1  keratin, type II cytoskeletal 72 isoform X4

    4. XM_054371143.1 → XP_054227118.1  keratin, type II cytoskeletal 72 isoform X7

    5. XM_054371144.1 → XP_054227119.1  keratin, type II cytoskeletal 72 isoform X1

    6. XM_054371148.1 → XP_054227123.1  keratin, type II cytoskeletal 72 isoform X5

    7. XM_054371149.1 → XP_054227124.1  keratin, type II cytoskeletal 72 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14CN4.2 GenPept UniProtKB/Swiss-Prot:Q14CN4

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