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    CYSRT1 cysteine rich tail 1 [ Homo sapiens (human) ]

    Gene ID: 375791, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CYSRT1provided by HGNC
    Official Full Name
    cysteine rich tail 1provided by HGNC
    Primary source
    HGNC:HGNC:30529
    See related
    Ensembl:ENSG00000197191 AllianceGenome:HGNC:30529
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C9orf169
    Summary
    Enables identical protein binding activity. Involved in biological process involved in interaction with symbiont and establishment of skin barrier. Located in cornified envelope. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in esophagus (RPKM 16.4), skin (RPKM 3.6) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CYSRT1 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137225174..137226315)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149462843..149463984)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140119626..140120767)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene NADPH dependent diflavin oxidoreductase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140111657-140112396 Neighboring gene ring finger protein-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140112397-140113136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140113137-140113876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20592 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20593 Neighboring gene ring finger protein 208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20594 Neighboring gene hESC enhancers GRCh37_chr9:140121623-140122123 and GRCh37_chr9:140122257-140122882 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140124150-140124650 Neighboring gene ring finger protein 224 Neighboring gene solute carrier family 34 member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20596

    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
    • 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. CYSRT1: An Antimicrobial Epidermal Protein that Can Interact with Late Cornified Envelope Proteins. Niehues H, et al. J Invest Dermatol, 2023 Aug. PMID 36804407
    2. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Kahle JJ, et al. Hum Mol Genet, 2011 Feb 1. PMID 21078624, Free PMC Article
    3. Interactomic analysis of REST/NRSF and implications of its functional links with the transcription suppressor TRIM28 during neuronal differentiation. Lee N, et al. Sci Rep, 2016 Dec 15. PMID 27976729, Free PMC Article
    4. Identification of host proteins required for HIV infection through a functional genomic screen. Brass AL, et al. Science, 2008 Feb 15. PMID 18187620
    5. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. Yachie N, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107012, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CYSRT1: An Antimicrobial Epidermal Protein that Can Interact with Late Cornified Envelope Proteins.
      Title: CYSRT1: An Antimicrobial Epidermal Protein that Can Interact with Late Cornified Envelope Proteins.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of chromosome 9 open reading frame 169 (C9orf169; MGC59937) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC59937

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological process involved in interaction with symbiont IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in establishment of skin barrier IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cornified envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    cysteine-rich tail protein 1
    Names
    UPF0574 protein C9orf169

    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.

    mRNA and Protein(s)

    1. NM_199001.5 → NP_945352.4  cysteine-rich tail protein 1

      Status: VALIDATED

      Source sequence(s)
      BC018787, BC052297, BE563091, BX255925
      Consensus CDS
      CCDS48064.3
      UniProtKB/Swiss-Prot
      A8MQ03, Q86UY7
      Related
      ENSP00000498316.1, ENST00000650725.2
      Conserved Domains (1) summary
      pfam10631
      Location:1 → 122
      DUF2477; Protein of unknown function (DUF2477)

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      137225174..137226315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      149462843..149463984
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MQ03.1 GenPept UniProtKB/Swiss-Prot:A8MQ03

    Gene LinkOut

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

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