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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
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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

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