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    KRT77 keratin 77 [ Homo sapiens (human) ]

    Gene ID: 374454, updated on 3-Nov-2024

    Summary

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    Official Symbol
    KRT77provided by HGNC
    Official Full Name
    keratin 77provided by HGNC
    Primary source
    HGNC:HGNC:20411
    See related
    Ensembl:ENSG00000189182 MIM:611158; AllianceGenome:HGNC:20411
    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
    K1B; KRT1B
    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 an epithelial keratin that is expressed in the skin and eccrine sweat glands. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]
    Expression
    Restricted expression toward skin (RPKM 121.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See KRT77 in Genome Data Viewer
    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 (52689626..52703524, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52654148..52668031, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53083410..53097308, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53068684-53069184 Neighboring gene keratin 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29208 Neighboring gene keratin 126, pseudogene Neighboring gene DEAD-box helicase 23 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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    Related articles in PubMed

    1. Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain. Hinbest AJ, et al. Int J Mol Sci, 2020 Sep 10. PMID 32927888, Free PMC Article
    2. Characterization of a novel human type II epithelial keratin K1b, specifically expressed in eccrine sweat glands. Langbein L, et al. J Invest Dermatol, 2005 Sep. PMID 16117782
    3. Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18. Hesse M, et al. J Cell Sci, 2001 Jul. PMID 11683385
    4. Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. Rogers MA, et al. J Invest Dermatol, 2005 Mar. PMID 15737194
    5. 14-3-3ζ negatively regulates mitochondrial biogenesis in GBM residual cells. Rajendra J, et al. Heliyon, 2021 Nov. PMID 34825085, Free PMC Article

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain.
      Title: Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain.
    2. Epithelial keratin, K1b, is exclusively expressed in luminal duct cells of eccrine sweat glands.
      Title: Characterization of a novel human type II epithelial keratin K1b, specifically expressed in eccrine sweat glands.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC148087

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    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 biological_process ND
    No biological Data available
    more info
    		  
    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 cornified envelope IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 1b
    Names
    CK-1B
    K77
    cytokeratin-1B
    keratin 1B
    keratin 77, type II
    type-II keratin Kb39

    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_012322.1 RefSeqGene

      Range
      4940..18838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_175078.3 → NP_778253.2  keratin, type II cytoskeletal 1b

      See identical proteins and their annotated locations for NP_778253.2

      Status: REVIEWED

      Source sequence(s)
      AC055716, BC122558
      Consensus CDS
      CCDS8837.1
      UniProtKB/Swiss-Prot
      Q7RTS8, Q7Z794
      UniProtKB/TrEMBL
      Q0IIN1
      Related
      ENSP00000342710.3, ENST00000341809.8
      Conserved Domains (3) summary
      pfam00038
      Location:163 → 476
      Filament; Intermediate filament protein
      pfam16208
      Location:56 → 160
      Keratin_2_head; Keratin type II head
      cl23720
      Location:384 → 451
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    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
      52689626..52703524 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538288.3 → XP_011536590.1  keratin, type II cytoskeletal 1b isoform X1

      UniProtKB/TrEMBL
      Q147W7
      Conserved Domains (1) summary
      pfam00038
      Location:1 → 243
      Filament; Intermediate filament protein

    2. XM_011538289.3 → XP_011536591.1  keratin, type II cytoskeletal 1b isoform X2

      Conserved Domains (1) summary
      pfam16208
      Location:56 → 160
      Keratin_2_head; Keratin type II head

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52654148..52668031 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371976.1 → XP_054227951.1  keratin, type II cytoskeletal 1b isoform X1

    2. XM_054371977.1 → XP_054227952.1  keratin, type II cytoskeletal 1b isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z794.3 GenPept UniProtKB/Swiss-Prot:Q7Z794

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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