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

Gene ID: 375791, updated on 27-Nov-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, Nov 2024]
Expression
Biased expression in esophagus (RPKM 16.4), skin (RPKM 3.6) and 2 other tissues See more
Orthologs
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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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