Seroatlas · Human Serome Atlas

CASZ1

Zinc finger protein castor homolog 1

Also known as: castor, CASZ1_HUMAN, cst, FLJ20321, SRG, ZNF693

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q86V15
Gene: CASZ1
Ensembl: ENSG00000130940
Chromosome: 1
Canonical length: 1759 aa
Protein class: Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1759 residues, UniProt reviewed canonical sequence.

>Q86V15|CASZ1
     1  MDLGTAEGTR CTDPPAGKPA MAPKRKGGLK LNAICAKLSR QVVVEKRADA GSHTEGSPSQ
    61  PRDQERSGPE SGAARAPRSE EDKRRAVIEK WVNGEYSEEP APTPVLGRIA REGLELPPEG
   121  VYMVQPQGCS DEEDHAEEPS KDGGALEEKD SDGAASKEDS GPSTRQASGE ASSLRDYAAS
   181  TMTEFLGMFG YDDQNTRDEL ARKISFEKLH AGSTPEAATS SMLPTSEDTL SKRARFSKYE
   241  EYIRKLKAGE QLSWPAPSTK TEERVGKEVV GTLPGLRLPS STAHLETKAT ILPLPSHSSV
   301  QMQNLVARAS KYDFFIQKLK TGENLRPQNG STYKKPSKYD LENVKYLHLF KPGEGSPDMG
   361  GAIAFKTGKV GRPSKYDVRG IQKPGPAKVP PTPSLAPAPL ASVPSAPSAP GPGPEPPASL
   421  SFNTPEYLKS TFSKTDSITT GTVSTVKNGL PTDKPAVTED VNIYQKYIAR FSGSQHCGHI
   481  HCAYQYREHY HCLDPECNYQ RFTSKQDVIR HYNMHKKRDN SLQHGFMRFS PLDDCSVYYH
   541  GCHLNGKSTH YHCMQVGCNK VYTSTSDVMT HENFHKKNTQ LINDGFQRFR ATEDCGTADC
   601  QFYGQKTTHF HCRRPGCTFT FKNKCDIEKH KSYHIKDDAY AKDGFKKFYK YEECKYEGCV
   661  YSKATNHFHC IRAGCGFTFT STSQMTSHKR KHERRHIRSS GALGLPPSLL GAKDTEHEES
   721  SNDDLVDFSA LSSKNSSLSA SPTSQQSSAS LAAATAATEA GPSATKPPNS KISGLLPQGL
   781  PGSIPLALAL SNSGLPTPTP YFPILAGRGS TSLPVGTPSL LGAVSSGSAA SATPDTPTLV
   841  ASGAGDSAPV AAASVPAPPA SIMERISASK GLISPMMARL AAAALKPSAT FDPGSGQQVT
   901  PARFPPAQVK PEPGESTGAP GPHEASQDRS LDLTVKEPSN ESNGHAVPAN SSLLSSLMNK
   961  MSQGNPGLGS LLNIKAEAEG SPAAEPSPFL GKAVKALVQE KLAEPWKVYL RRFGTKDFCD
  1021  GQCDFLHKAH FHCVVEECGA LFSTLDGAIK HANFHFRTEG GAAKGNTEAA FPASAAETKP
  1081  PMAPSSPPVP PVTTATVSSL EGPAPSPASV PSTPTLLAWK QLASTIPQMP QIPASVPHLP
  1141  ASPLATTSLE NAKPQVKPGF LQFQENDPCL ATDCKYANKF HFHCLFGNCK YVCKTSGKAE
  1201  SHCLDHINPN NNLVNVRDQF AYYSLQCLCP NQHCEFRMRG HYHCLRTGCY FVTNITTKLP
  1261  WHIKKHEKAE RRAANGFKYF TKREECGRLG CKYNQVNSHF HCIREGCQFS FLLKHQMTSH
  1321  ARKHMRRMLG KNFDRVPPSQ GPPGLMDAET DECMDYTGCS PGAMSSESST MDRSCSSTPV
  1381  GNESTAAGNT ISMPTASGAK KRFWIIEDMS PFGKRRKTAS SRKMLDEGMM LEGFRRFDLY
  1441  EDCKDAACQF SLKVTHYHCT RENCGYKFCG RTHMYKHAQH HDRVDNLVLD DFKRFKASLS
  1501  CHFADCPFSG TSTHFHCLRC RFRCTDSTKV TAHRKHHGKQ DVISAAGFCQ FSSSADCAVP
  1561  DCKYKLKCSH FHCTFPGCRH TVVGMSQMDS HKRKHEKQER GEPAAEGPAP GPPISLDGSL
  1621  SLGAEPGSLL FLQSAAAGLG LALGDAGDPG PPDAAAPGPR EGAAAAAAAA GESSQEDEEE
  1681  ELELPEEEAE DDEDEDDDED DDDEDDDEDD DDEDLRTDSE ESLPEAAAEA AGAGARTPAL
  1741  AALAALGAPG PAPTAASSP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CASZ1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.56
Highest tissue expression: 47 nTPM

Expression across tissuesHPA

Tissue

skin: 47 nTPM
skeletal muscle: 33 nTPM
retina: 33 nTPM
colon: 19 nTPM
heart muscle: 19 nTPM
salivary gland: 19 nTPM

Single-cell type

rod photoreceptor cells: 1,091 nCPM
cone photoreceptor cells: 892 nCPM
myonuclei: 333 nCPM
prostatic glandular cells: 332 nCPM
podocytes: 298 nCPM
tuft cells: 254 nCPM

Immune cell

plasmacytoid DC: 0.8 nTPM
non-classical monocyte: 0.7 nTPM
basophil: 0.6 nTPM
gdT-cell: 0.4 nTPM
NK-cell: 0.4 nTPM
eosinophil: 0.3 nTPM

Brain region

choroid plexus: 5.9 nTPM
spinal cord: 5.6 nTPM
hypothalamus: 3.7 nTPM
medulla oblongata: 3.1 nTPM
cerebral cortex: 2.9 nTPM
basal ganglia: 2.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CASZ1.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 682 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Primary dilated cardiomyopathy
CASZ1-associated cardiomyopathy
CASZ1-related dilated cardiomyopathy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.15
gnomAD pLI: 1
gnomAD missense Z: 2.61
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Zinc finger C2H2-type
Transcription factor castor

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CASZ1 as an antibody target. Whether an autoantibody or antibody against CASZ1 could matter depends on whether native CASZ1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CASZ1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CASZ1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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