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UniProtKB - Q86V15 (CASZ1_HUMAN)

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Protein

Zinc finger protein castor homolog 1

Gene

CASZ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcriptional activator (PubMed:23639441, PubMed:27693370). Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7 (PubMed:23639441).2 Publications

Miscellaneous

Endothelial cells depleted in CASZ1 by siRNAs display dramatic alterations in adhesion, morphology and sprouting; normal behavior can be rescued by restoration of EGFL7 expression. The defects are in part due to diminished RhoA expression and impaired focal adhesion localization.

Caution

According to PubMed:16322216, another protein (SRG) is encoded on the 3'-UTR of the CASZ1 gene. The existence of this protein that may play a role in apoptosis is extremely dubious despite the fact it was localized in the cytoplasm with the help of a polyclonal antibody.Curated

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri551 – 575C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri610 – 634C2H2-type 2PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri668 – 692C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri1031 – 1055C2H2-type 4PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri1300 – 1324C2H2-type 5PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri1457 – 1481C2H2-type 6PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri1515 – 1537C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1571 – 1595C2H2-type 8PROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein castor homolog 1
Alternative name(s):
Castor-related protein
Putative survival-related protein
Zinc finger protein 693
Gene namesi
Name:CASZ1
Synonyms:CST, SRG, ZNF693
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000130940.14
HGNCiHGNC:26002 CASZ1
MIMi609895 gene
neXtProtiNX_Q86V15

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi54897
OpenTargetsiENSG00000130940
PharmGKBiPA142672203

Polymorphism and mutation databases

DMDMi300669712

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000469121 – 1759Zinc finger protein castor homolog 1Add BLAST1759

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki288Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei720PhosphoserineBy similarity1
Modified residuei721PhosphoserineBy similarity1
Cross-linki975Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei981PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ86V15
MaxQBiQ86V15
PaxDbiQ86V15
PeptideAtlasiQ86V15
PRIDEiQ86V15
ProteomicsDBi69945
69946 [Q86V15-2]

PTM databases

iPTMnetiQ86V15
PhosphoSitePlusiQ86V15

Expressioni

Tissue specificityi

Expressed in heart, lung, skeletal muscle, pancreas, testis, small intestine, and stomach, but it is not detectable in the adult brain.1 Publication

Gene expression databases

BgeeiENSG00000130940
CleanExiHS_CASZ1
ExpressionAtlasiQ86V15 baseline and differential
GenevisibleiQ86V15 HS

Organism-specific databases

HPAiHPA028222
HPA029927

Interactioni

Protein-protein interaction databases

BioGridi120243, 13 interactors
IntActiQ86V15, 10 interactors
MINTiQ86V15
STRINGi9606.ENSP00000366221

Structurei

3D structure databases

ProteinModelPortaliQ86V15
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi384 – 417Pro-richAdd BLAST34
Compositional biasi1080 – 1143Pro-richAdd BLAST64
Compositional biasi1635 – 1670Ala-richAdd BLAST36
Compositional biasi1672 – 1729Glu-richAdd BLAST58
Compositional biasi1691 – 1718Asp-richAdd BLAST28

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri551 – 575C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri610 – 634C2H2-type 2PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri668 – 692C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri1031 – 1055C2H2-type 4PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri1300 – 1324C2H2-type 5PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri1457 – 1481C2H2-type 6PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri1515 – 1537C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1571 – 1595C2H2-type 8PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG4377 Eukaryota
ENOG410XRBA LUCA
GeneTreeiENSGT00390000008187
HOVERGENiHBG080122
InParanoidiQ86V15
OMAiDFLHKVH
OrthoDBiEOG091G0364
PhylomeDBiQ86V15
TreeFamiTF324787

Family and domain databases

InterProiView protein in InterPro
IPR013087 Znf_C2H2_type
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 11 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 9 hits
PS50157 ZINC_FINGER_C2H2_2, 3 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86V15-1) [UniParc]FASTAAdd to basket
Also known as: hCASZ11

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDLGTAEGTR CTDPPAGKPA MAPKRKGGLK LNAICAKLSR QVVVEKRADA 
        60         70         80         90        100
GSHTEGSPSQ PRDQERSGPE SGAARAPRSE EDKRRAVIEK WVNGEYSEEP 
       110        120        130        140        150
APTPVLGRIA REGLELPPEG VYMVQPQGCS DEEDHAEEPS KDGGALEEKD 
       160        170        180        190        200
SDGAASKEDS GPSTRQASGE ASSLRDYAAS TMTEFLGMFG YDDQNTRDEL 
       210        220        230        240        250
ARKISFEKLH AGSTPEAATS SMLPTSEDTL SKRARFSKYE EYIRKLKAGE 
       260        270        280        290        300
QLSWPAPSTK TEERVGKEVV GTLPGLRLPS STAHLETKAT ILPLPSHSSV 
       310        320        330        340        350
QMQNLVARAS KYDFFIQKLK TGENLRPQNG STYKKPSKYD LENVKYLHLF 
       360        370        380        390        400
KPGEGSPDMG GAIAFKTGKV GRPSKYDVRG IQKPGPAKVP PTPSLAPAPL 
       410        420        430        440        450
ASVPSAPSAP GPGPEPPASL SFNTPEYLKS TFSKTDSITT GTVSTVKNGL 
       460        470        480        490        500
PTDKPAVTED VNIYQKYIAR FSGSQHCGHI HCAYQYREHY HCLDPECNYQ 
       510        520        530        540        550
RFTSKQDVIR HYNMHKKRDN SLQHGFMRFS PLDDCSVYYH GCHLNGKSTH 
       560        570        580        590        600
YHCMQVGCNK VYTSTSDVMT HENFHKKNTQ LINDGFQRFR ATEDCGTADC 
       610        620        630        640        650
QFYGQKTTHF HCRRPGCTFT FKNKCDIEKH KSYHIKDDAY AKDGFKKFYK 
       660        670        680        690        700
YEECKYEGCV YSKATNHFHC IRAGCGFTFT STSQMTSHKR KHERRHIRSS 
       710        720        730        740        750
GALGLPPSLL GAKDTEHEES SNDDLVDFSA LSSKNSSLSA SPTSQQSSAS 
       760        770        780        790        800
LAAATAATEA GPSATKPPNS KISGLLPQGL PGSIPLALAL SNSGLPTPTP 
       810        820        830        840        850
YFPILAGRGS TSLPVGTPSL LGAVSSGSAA SATPDTPTLV ASGAGDSAPV 
       860        870        880        890        900
AAASVPAPPA SIMERISASK GLISPMMARL AAAALKPSAT FDPGSGQQVT 
       910        920        930        940        950
PARFPPAQVK PEPGESTGAP GPHEASQDRS LDLTVKEPSN ESNGHAVPAN 
       960        970        980        990       1000
SSLLSSLMNK MSQGNPGLGS LLNIKAEAEG SPAAEPSPFL GKAVKALVQE 
      1010       1020       1030       1040       1050
KLAEPWKVYL RRFGTKDFCD GQCDFLHKAH FHCVVEECGA LFSTLDGAIK 
      1060       1070       1080       1090       1100
HANFHFRTEG GAAKGNTEAA FPASAAETKP PMAPSSPPVP PVTTATVSSL 
      1110       1120       1130       1140       1150
EGPAPSPASV PSTPTLLAWK QLASTIPQMP QIPASVPHLP ASPLATTSLE 
      1160       1170       1180       1190       1200
NAKPQVKPGF LQFQENDPCL ATDCKYANKF HFHCLFGNCK YVCKTSGKAE 
      1210       1220       1230       1240       1250
SHCLDHINPN NNLVNVRDQF AYYSLQCLCP NQHCEFRMRG HYHCLRTGCY 
      1260       1270       1280       1290       1300
FVTNITTKLP WHIKKHEKAE RRAANGFKYF TKREECGRLG CKYNQVNSHF 
      1310       1320       1330       1340       1350
HCIREGCQFS FLLKHQMTSH ARKHMRRMLG KNFDRVPPSQ GPPGLMDAET 
      1360       1370       1380       1390       1400
DECMDYTGCS PGAMSSESST MDRSCSSTPV GNESTAAGNT ISMPTASGAK 
      1410       1420       1430       1440       1450
KRFWIIEDMS PFGKRRKTAS SRKMLDEGMM LEGFRRFDLY EDCKDAACQF 
      1460       1470       1480       1490       1500
SLKVTHYHCT RENCGYKFCG RTHMYKHAQH HDRVDNLVLD DFKRFKASLS 
      1510       1520       1530       1540       1550
CHFADCPFSG TSTHFHCLRC RFRCTDSTKV TAHRKHHGKQ DVISAAGFCQ 
      1560       1570       1580       1590       1600
FSSSADCAVP DCKYKLKCSH FHCTFPGCRH TVVGMSQMDS HKRKHEKQER 
      1610       1620       1630       1640       1650
GEPAAEGPAP GPPISLDGSL SLGAEPGSLL FLQSAAAGLG LALGDAGDPG 
      1660       1670       1680       1690       1700
PPDAAAPGPR EGAAAAAAAA GESSQEDEEE ELELPEEEAE DDEDEDDDED 
      1710       1720       1730       1740       1750
DDDEDDDEDD DDEDLRTDSE ESLPEAAAEA AGAGARTPAL AALAALGAPG 

PAPTAASSP
Length:1,759
Mass (Da):190,069
Last modified:July 13, 2010 - v4
Checksum:i4F5146BE72606654
GO
Isoform 2 (identifier: Q86V15-2) [UniParc]FASTAAdd to basket
Also known as: hCASZ5

The sequence of this isoform differs from the canonical sequence as follows:
     1166-1166: N → K
     1167-1759: Missing.

Show »
Length:1,166
Mass (Da):124,788
Checksum:i920E46461E4BC1A5
GO

Sequence cautioni

The sequence ABD14411 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence BAA91089 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC85474 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti192D → N in ABB29845 (PubMed:16631614).Curated1
Sequence conflicti273L → P in ABB29845 (PubMed:16631614).Curated1
Sequence conflicti408S → N in BAA91089 (PubMed:15489334).Curated1
Sequence conflicti486Y → H in ABB29845 (PubMed:16631614).Curated1
Sequence conflicti650K → E in ABB29845 (PubMed:16631614).Curated1
Sequence conflicti813L → P in AAH51883 (PubMed:16710414).Curated1
Sequence conflicti961M → T in ABB29845 (PubMed:16631614).Curated1
Sequence conflicti989F → S in ABB29845 (PubMed:16631614).Curated1
Sequence conflicti1061G → E in BAA91089 (PubMed:15489334).Curated1
Sequence conflicti1297N → S in ABB29845 (PubMed:16631614).Curated1
Sequence conflicti1501C → R in ABB29845 (PubMed:16631614).Curated1
Sequence conflicti1549C → R in ABB29845 (PubMed:16631614).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07746638L → P Probable disease-associated mutation found in a patient with congenital heart defect; severe decrease of positive regulation of transcription from TH promoter. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0270931166N → K in isoform 2. 2 Publications1
Alternative sequenceiVSP_0270941167 – 1759Missing in isoform 2. 2 PublicationsAdd BLAST593

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ372703 mRNA Translation: ABD14411.1 Sequence problems.
DQ217660 mRNA Translation: ABB29845.1
AL139423 Genomic DNA No translation available.
BC004410 mRNA Translation: AAH04410.2
BC051883 mRNA Translation: AAH51883.2
AK000328 mRNA Translation: BAA91089.1 Different initiation.
AK130996 mRNA Translation: BAC85474.1 Sequence problems.
CCDSiCCDS120.2 [Q86V15-2]
CCDS41246.1 [Q86V15-1]
RefSeqiNP_001073312.1, NM_001079843.2 [Q86V15-1]
NP_060236.3, NM_017766.4 [Q86V15-2]
UniGeneiHs.439894

Genome annotation databases

EnsembliENST00000344008; ENSP00000339445; ENSG00000130940 [Q86V15-2]
ENST00000377022; ENSP00000366221; ENSG00000130940 [Q86V15-1]
GeneIDi54897
KEGGihsa:54897
UCSCiuc001aro.6 human [Q86V15-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiCASZ1_HUMAN
AccessioniPrimary (citable) accession number: Q86V15
Secondary accession number(s): Q078S9
, Q2EN02, Q5T9S1, Q6ZNM8, Q8WX49, Q8WX50, Q9BT16, Q9NXC6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: July 13, 2010
Last modified: July 18, 2018
This is version 135 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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