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

Gene ID: 54897, updated on 13-Jan-2015
Official Symbol
CASZ1provided by HGNC
Official Full Name
castor zinc finger 1provided by HGNC
Primary source
HGNC:HGNC:26002
Locus tag
RP4-734G22.2
See related
Ensembl:ENSG00000130940; HPRD:07897; 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
See CASZ1 in Epigenomics, MapViewer
Location:
1p36.22
Exon count:
23
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (10636604..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, 45kDa, alpha polypeptide Neighboring gene peroxisomal biogenesis factor 14 Neighboring gene chromosome 1 open reading frame 127 Neighboring gene cofilin 1 (non-muscle) pseudogene 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
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
multicellular organismal development IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm 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
zinc finger protein castor homolog 1
survival-related
castor-related protein
zinc finger protein 693
castor homolog 1, zinc finger

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 proteins identical to 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/TrEMBL
    B3KRV8
    UniProtKB/Swiss-Prot
    Q86V15
    Related
    ENSP00000366221, OTTHUMP00000002018, ENST00000377022, OTTHUMT00000005673
  2. NM_017766.4NP_060236.3  zinc finger protein castor homolog 1 isoform b

    See proteins identical to 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/TrEMBL
    B3KRV8
    UniProtKB/Swiss-Prot
    Q86V15
    Related
    ENSP00000339445, OTTHUMP00000002017, ENST00000344008, OTTHUMT00000005671

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    10636604..10796676
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710712.1XP_006710775.1  

    See proteins identical to XP_006710775.1

    UniProtKB/Swiss-Prot
    Q86V15
  2. XM_005263479.1XP_005263536.1  

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

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

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    9850697..10009398
    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.