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

Gene ID: 54897, updated on 15-Jul-2024

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; AllianceGenome:HGNC:26002
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
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Try the new Transcript table

Genomic context

See CASZ1 in Genome Data Viewer
Location:
1p36.22
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (10636604..10796646, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (10180201..10340363, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10696661..10856703, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 149 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10534116-10535081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 247 Neighboring gene Sharpr-MPRA regulatory region 5895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 151 Neighboring gene DNA fragmentation factor subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 153 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10568725-10569413 Neighboring gene peroxisomal biogenesis factor 14 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:10588102-10589301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10601005-10601548 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10616013-10616674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 248 Neighboring gene Sharpr-MPRA regulatory region 3136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10654141-10654658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10654659-10655176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10662571-10663072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10663073-10663572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10676275-10676958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10675589-10676274 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10678456-10679010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10682167-10682666 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:10683990-10685189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10693091-10694054 Neighboring gene RNA, 7SL, cytoplasmic 614, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10695017-10695979 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10706359-10706864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10715263-10715920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10719824-10720334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10720335-10720845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10724469-10725217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10725218-10725965 Neighboring gene VISTA enhancer hs289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10735694-10736484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10736485-10737273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10739643-10740432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10738853-10739642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10746779-10747379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10746179-10746778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10761480-10761980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10763789-10764710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10765634-10766555 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10764711-10765633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10772353-10772897 Neighboring gene VISTA enhancer hs389 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10787641-10788438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10788439-10789235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 253 Neighboring gene VISTA enhancer hs2094 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:10804287-10805486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10805585-10806508 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:10814763-10814950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10821512-10822012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10822013-10822513 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10845108-10845670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10845671-10846231 Neighboring gene VISTA enhancer hs408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10863938-10864510 Neighboring gene uncharacterized LOC105376733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10874119-10874619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10876704-10877204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10884509-10885026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10885027-10885544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10886063-10886578 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10898203-10898810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10899993-10900493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10920607-10921107 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10921487-10921988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10927921-10928792 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

EBI GWAS Catalog

Description
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
EBI GWAS Catalog
Genome-wide association study of blood pressure and hypertension.
EBI GWAS Catalog
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ12223, FLJ20321

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of chromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
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)

NEW Try the new Transcript table

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
    Q078S9, Q2EN02, Q5T9S1, Q6ZNM8, Q86V15, Q8WX49, Q8WX50, Q9BT16, Q9NXC6
    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/TrEMBL
    B3KRV8
    Related
    ENSP00000339445.5, ENST00000344008.5

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    10636604..10796646 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001540.3XP_016857029.1  zinc finger protein castor homolog 1 isoform X2

  2. XM_047423404.1XP_047279360.1  zinc finger protein castor homolog 1 isoform X2

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

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    10180201..10340363 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337252.1XP_054193227.1  zinc finger protein castor homolog 1 isoform X2

  2. XM_054337253.1XP_054193228.1  zinc finger protein castor homolog 1 isoform X2

  3. XM_054337251.1XP_054193226.1  zinc finger protein castor homolog 1 isoform X1

  4. XM_054337254.1XP_054193229.1  zinc finger protein castor homolog 1 isoform X3

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.