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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
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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)

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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_001146225.2NP_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