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

Gene ID: 54897, updated on 10-Oct-2019

Summary

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
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]
Expression
Broad expression in skin (RPKM 7.7), prostate (RPKM 5.8) and 22 other tissues See more
Orthologs

Genomic context

See CASZ1 in Genome Data Viewer
Location:
1p36.22
Exon count:
24
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (10636604..10796650, 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 VISTA enhancer hs289 Neighboring gene VISTA enhancer hs389 Neighboring gene VISTA enhancer hs2094 Neighboring gene VISTA enhancer hs408 Neighboring gene uncharacterized LOC105376733 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 24

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2019-04-25)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2019-04-25)

ClinGen Genome Curation PagePubMed

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
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
 

General protein information

Preferred Names
zinc finger protein castor homolog 1
Names
castor homolog 1, zinc finger
castor-related protein
survival-related
zinc finger protein 693

NCBI Reference Sequences (RefSeq)

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_001079843.3NP_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
    Consensus CDS
    CCDS41246.1
    UniProtKB/Swiss-Prot
    Q86V15
    UniProtKB/TrEMBL
    B3KRV8
    Related
    ENSP00000366221.3, ENST00000377022.8
  2. NM_017766.5NP_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
    Consensus CDS
    CCDS120.2
    UniProtKB/Swiss-Prot
    Q86V15
    UniProtKB/TrEMBL
    B3KRV8
    Related
    ENSP00000339445.5, ENST00000344008.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    10636604..10796650 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001540.2XP_016857029.1  zinc finger protein castor homolog 1 isoform X2

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

  3. XM_017001539.2XP_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

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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