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    CASZ1 castor zinc finger 1 [ Homo sapiens (human) ]

    Gene ID: 54897, updated on 5-Nov-2017
    Official Symbol
    CASZ1provided by HGNC
    Official Full Name
    castor zinc finger 1provided by HGNC
    Primary source
    HGNC:HGNC:26002
    See related
    Ensembl:ENSG00000130940 MIM:609895; Vega:OTTHUMG00000002035
    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
    CST; SRG; CAS11; ZNF693; dJ734G22.1
    Summary
    The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
    Orthologs
    Location:
    1p36.22
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (10636602..10796676, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10696661..10856733, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene DNA fragmentation factor subunit alpha Neighboring gene peroxisomal biogenesis factor 14 Neighboring gene RNA, 7SL, cytoplasmic 614, pseudogene Neighboring gene uncharacterized LOC105376733 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 24

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
    NHGRI GWA Catalog
    Genome-wide association study of blood pressure and hypertension.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ12223, FLJ20321

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    zinc finger protein castor homolog 1
    Names
    castor homolog 1, zinc finger
    castor-related protein
    survival-related
    zinc finger protein 693

    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_001079843.2NP_001073312.1  zinc finger protein castor homolog 1 isoform a

      See identical proteins and their annotated locations for NP_001073312.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AA449398, AK092289, AL139423, BC004410, BC051883, DQ217660, R85589
      Consensus CDS
      CCDS41246.1
      UniProtKB/Swiss-Prot
      Q86V15
      UniProtKB/TrEMBL
      B3KRV8
      Related
      ENSP00000366221.3, OTTHUMP00000002018, ENST00000377022.7, OTTHUMT00000005673
    2. NM_017766.4NP_060236.3  zinc finger protein castor homolog 1 isoform b

      See identical proteins and their annotated locations for NP_060236.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform b which is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AK000328, AK092289, AL139423, BC004410, BC051883, R85589
      Consensus CDS
      CCDS120.2
      UniProtKB/Swiss-Prot
      Q86V15
      UniProtKB/TrEMBL
      B3KRV8
      Related
      ENSP00000339445.5, OTTHUMP00000002017, ENST00000344008.5, OTTHUMT00000005671

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      10636602..10796676 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001540.1XP_016857029.1  zinc finger protein castor homolog 1 isoform X2

    2. XM_017001541.1XP_016857030.1  zinc finger protein castor homolog 1 isoform X2

    3. XM_017001539.1XP_016857028.1  zinc finger protein castor homolog 1 isoform X1

    4. XM_005263479.3XP_005263536.1  zinc finger protein castor homolog 1 isoform X3

    5. XM_011541635.2XP_011539937.1  zinc finger protein castor homolog 1 isoform X4

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      10684386..10844453 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001039183.2: Suppressed sequence

      Description
      NM_001039183.2: This RefSeq was permanently suppressed because it is entirely UTR sequence.
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