U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    KRT72 keratin 72 [ Homo sapiens (human) ]

    Gene ID: 140807, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001146225.2NP_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:124437
      Filament; Intermediate filament protein
      pfam16208
      Location:15121
      Keratin_2_head; Keratin type II head
      cl19219
      Location:233413
      DUF342; Protein of unknown function (DUF342)
    2. NM_001146226.2NP_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:124395
      Filament; Intermediate filament protein
      pfam16208
      Location:15121
      Keratin_2_head; Keratin type II head
    3. NM_080747.3NP_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:124437
      Filament; Intermediate filament protein
      pfam16208
      Location:15121
      Keratin_2_head; Keratin type II head
      cl19219
      Location:233413
      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_047428323.1XP_047284279.1  keratin, type II cytoskeletal 72 isoform X3

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

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

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

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

      UniProtKB/TrEMBL
      B4DXK4
    6. XM_047428326.1XP_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_054371146.1XP_054227121.1  keratin, type II cytoskeletal 72 isoform X3

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

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

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

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

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

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