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    CRYZL1 crystallin zeta like 1 [ Homo sapiens (human) ]

    Gene ID: 9946, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CRYZL1provided by HGNC
    Official Full Name
    crystallin zeta like 1provided by HGNC
    Primary source
    HGNC:HGNC:2420
    See related
    Ensembl:ENSG00000205758 MIM:603920; AllianceGenome:HGNC:2420
    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
    4P11; Fy-4; QOH-1; FERRY4
    Summary
    This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 17.7), brain (RPKM 12.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CRYZL1 in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33589341..33641741, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (31971130..32023555, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34961647..35014047, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene microRNA 6501 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:34960679-34961178 Neighboring gene SON DNA and RNA binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18382 Neighboring gene DNA replication fork stabilization factor DONSON Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35029077-35029576 Neighboring gene intersectin 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:35063898-35064424 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:35064425-35064951 Neighboring gene H3K27me3-DHS negatively-acting regulatory element H4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35069053-35069554 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:35114498-35114600 Neighboring gene NANOG hESC enhancer GRCh37_chr21:35173966-35174467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35229825-35230518 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:35257366-35258565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35267187-35267773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35267774-35268359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35274085-35274680 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:35285966-35287165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18384 Neighboring gene ATP synthase peripheral stalk subunit OSCP

    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. Identification of a zeta-crystallin (quinone reductase)-like 1 gene (CRYZL1) mapped to human chromosome 21q22.1. Kim MY, et al. Genomics, 1999 Apr 1. PMID 10191096
    2. Genomic sequence, splicing, and gene annotation. Mount SM. Am J Hum Genet, 2000 Oct. PMID 10986039, Free PMC Article
    3. Human and yeast zeta-crystallins bind AU-rich elements in RNA. Fernández MR, et al. Cell Mol Life Sci, 2007 Jun. PMID 17497241, Free PMC Article
    4. The Rab5 effector FERRY links early endosomes with mRNA localization. Schuhmacher JS, et al. Mol Cell, 2023 Jun 1. PMID 37267905
    5. Structural basis of mRNA binding by the human FERRY Rab5 effector complex. Quentin D, et al. Mol Cell, 2023 Jun 1. PMID 37267906

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data show that human and yeast zeta-crystallins bind AU-rich elements in RNA.
      Title: Human and yeast zeta-crystallins bind AU-rich elements in RNA.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: DONSON

    Homology

    Clone Names

    • DKFZp434M035

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADP binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables NADPH:quinone reductase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in quinone metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol HDA PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    quinone oxidoreductase-like protein 1
    Names
    crystallin, zeta (quinone reductase)-like 1
    ferry endosomal RAB5 effector complex subunit 4
    protein 4P11
    quinone oxidoreductase homolog 1
    quinone reductase-like 1
    zeta-crystallin homolog

    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_145858.3 → NP_665857.2  quinone oxidoreductase-like protein 1

      See identical proteins and their annotated locations for NP_665857.2

      Status: REVIEWED

      Source sequence(s)
      BC033023, CA426424, DB037192
      Consensus CDS
      CCDS13633.2
      UniProtKB/Swiss-Prot
      B2RDX1, B3KQ77, O95825, Q96DY0, Q9NVY7
      UniProtKB/TrEMBL
      A6NMA8
      Related
      ENSP00000370966.3, ENST00000381554.8
      Conserved Domains (1) summary
      cd05195
      Location:31 → 347
      enoyl_red; enoyl reductase of polyketide synthase

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      33589341..33641741 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      31971130..32023555 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145311.1: Suppressed sequence

      Description
      NM_145311.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95825.2 GenPept UniProtKB/Swiss-Prot:O95825

    Gene LinkOut

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

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