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    CYYR1 cysteine and tyrosine rich 1 [ Homo sapiens (human) ]

    Gene ID: 116159, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CYYR1provided by HGNC
    Official Full Name
    cysteine and tyrosine rich 1provided by HGNC
    Primary source
    HGNC:HGNC:16274
    See related
    Ensembl:ENSG00000166265 MIM:616020; AllianceGenome:HGNC:16274
    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
    C21orf95
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in adrenal (RPKM 4.2), fat (RPKM 3.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    21q21.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (26466216..26573286, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (24824341..24931429, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (27838535..27945605, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene myristoylated alanine rich protein kinase C substrate pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr21:27653974-27654905 Neighboring gene OCT4 hESC enhancer GRCh37_chr21:27683542-27684254 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:27761856-27763055 Neighboring gene CYYR1 antisense RNA 1 Neighboring gene uncharacterized LOC105372758 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:27813209-27814408 Neighboring gene uncharacterized LOC107985474 Neighboring gene NANOG hESC enhancer GRCh37_chr21:28191085-28191706 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:28214275-28215474 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:28217912-28218512 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:28218513-28219112 Neighboring gene NANOG hESC enhancer GRCh37_chr21:28224660-28225227 Neighboring gene uncharacterized LOC105372760 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 1 Neighboring gene NANOG hESC enhancer GRCh37_chr21:28282232-28282780

    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. Sequence, "subtle" alternative splicing and expression of the CYYR1 (cysteine/tyrosine-rich 1) mRNA in human neuroendocrine tumors. Vitale L, et al. BMC Cancer, 2007 Apr 18. PMID 17442112, Free PMC Article
    2. Characterization of human gene locus CYYR1: a complex multi-transcript system. Casadei R, et al. Mol Biol Rep, 2014 Sep. PMID 24981926
    3. Cysteine and tyrosine-rich 1 (CYYR1), a novel unpredicted gene on human chromosome 21 (21q21.2), encodes a cysteine and tyrosine-rich protein and defines a new family of highly conserved vertebrate-specific genes. Vitale L, et al. Gene, 2002 May 15. PMID 12062809
    4. Nineteen additional unpredicted transcripts from human chromosome 21. Reymond A, et al. Genomics, 2002 Jun. PMID 12036297
    5. Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. Wilk JB, et al. Am J Respir Crit Care Med, 2012 Oct 1. PMID 22837378, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. New CYYR1 alternative isoforms were identified and characterized.
      Title: Characterization of human gene locus CYYR1: a complex multi-transcript system.
    2. A new "subtle" splicing isoform (CAG+) of CYYR1 mRNA, the sequence & expression of this gene were defined in a series of NE tumors. This CAG+ codon determines the presence of an Ala residue at the exon 3/exon 4 junction of the CYYR1 mRNA.
      Title: Sequence, "subtle" alternative splicing and expression of the CYYR1 (cysteine/tyrosine-rich 1) mRNA in human neuroendocrine tumors.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cysteine and tyrosine-rich protein 1
    Names
    cysteine/tyrosine-rich 1
    proline-rich domain-containing protein

    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_001320768.2 → NP_001307697.2  cysteine and tyrosine-rich protein 1 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF401639, AK054581, AK223576, BX100308, DC382466
      Consensus CDS
      CCDS93083.1
      Related
      ENSP00000498505.1, ENST00000652641.2
      Conserved Domains (1) summary
      pfam10873
      Location:7 → 155
      CYYR1; Cysteine and tyrosine-rich protein 1

    2. NM_052954.5 → NP_443186.3  cysteine and tyrosine-rich protein 1 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate, in-frame splice site in the 3' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1
      Source sequence(s)
      AF401639, AK054581, AL833200, DC391430
      Consensus CDS
      CCDS13578.1
      UniProtKB/Swiss-Prot
      A0A059TD09, A8MTU9, B2R845, Q53ER3, Q5JPD0, Q96J86, Q96NV7, R9QAJ4, W8CQB3
      Related
      ENSP00000299340.4, ENST00000299340.9
      Conserved Domains (1) summary
      pfam10873
      Location:7 → 154
      CYYR1; Cysteine and tyrosine-rich protein 1

    RNA

    1. NR_135472.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF401639, AK223576, AK304124, AL833200, DC391430

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      26466216..26573286 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529450.3 → XP_011527752.1  cysteine and tyrosine-rich protein 1 isoform X1

      Conserved Domains (1) summary
      pfam10873
      Location:115 → 219
      DUF2668; Protein of unknown function (DUF2668)

    2. XM_047440681.1 → XP_047296637.1  cysteine and tyrosine-rich protein 1 isoform X2

    RNA

    1. XR_007067783.1 RNA Sequence

    2. XR_001754808.2 RNA Sequence

    3. XR_001754807.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      24824341..24931429 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324329.1 → XP_054180304.1  cysteine and tyrosine-rich protein 1 isoform X1

    2. XM_054324330.1 → XP_054180305.1  cysteine and tyrosine-rich protein 1 isoform X2

    RNA

    1. XR_008485329.1 RNA Sequence

    2. XR_008485328.1 RNA Sequence

    3. XR_008485330.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96J86.1 GenPept UniProtKB/Swiss-Prot:Q96J86

    Gene LinkOut

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

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