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Protein

Zinc finger protein castor homolog 1

Gene

CASZ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Zinc finger protein castor homolog 1
Alternative name(s):
Castor-related protein
Putative survival-related protein
Zinc finger protein 693
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CASZ1
Synonyms:CST, SRG, ZNF693
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000130940.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26002 CASZ1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609895 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86V15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
54897

Open Targets

More...
OpenTargetsi
ENSG00000130940

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672203

Polymorphism and mutation databases

Domain mapping of disease mutations (DMDM)

More...
DMDMi
300669712

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000469121 – 1759Zinc finger protein castor homolog 1Add BLAST1759

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki288Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
Q86V15

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q86V15

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q86V15

PeptideAtlas

More...
PeptideAtlasi
Q86V15

PRoteomics IDEntifications database

More...
PRIDEi
Q86V15

ProteomicsDB human proteome resource

More...
ProteomicsDBi
69945
69946 [Q86V15-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q86V15

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q86V15

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000130940 Expressed in 198 organ(s), highest expression level in skin of leg

CleanEx database of gene expression profiles

More...
CleanExi
HS_CASZ1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q86V15 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q86V15 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA028222
HPA029927

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120243, 13 interactors

Protein interaction database and analysis system

More...
IntActi
Q86V15, 10 interactors

Molecular INTeraction database

More...
MINTi
Q86V15

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000366221

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q86V15

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4377 Eukaryota
ENOG410XRBA LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000008187

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG080122

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q86V15

Identification of Orthologs from Complete Genome Data

More...
OMAi
FLHKVHF

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0364

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q86V15

TreeFam database of animal gene trees

More...
TreeFami
TF324787

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013087 Znf_C2H2_type

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00355 ZnF_C2H2, 11 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 9 hits
PS50157 ZINC_FINGER_C2H2_2, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EQC6K7EQC6_HUMAN
Zinc finger protein castor homolog ...
CASZ1
231Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS120.2 [Q86V15-2]
CCDS41246.1 [Q86V15-1]

NCBI Reference Sequences

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RefSeqi
NP_001073312.1, NM_001079843.2 [Q86V15-1]
NP_060236.3, NM_017766.4 [Q86V15-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.439894

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000344008; ENSP00000339445; ENSG00000130940 [Q86V15-2]
ENST00000377022; ENSP00000366221; ENSG00000130940 [Q86V15-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54897

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54897

UCSC genome browser

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UCSCi
uc001aro.6 human [Q86V15-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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

3D structure databases

ProteinModelPortaliQ86V15
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiQ86V15
PhosphoSitePlusiQ86V15

Polymorphism and mutation databases

DMDMi300669712

Proteomic databases

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

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
54897
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
54897
DisGeNETi54897
EuPathDBiHostDB:ENSG00000130940.14

GeneCards: human genes, protein and diseases

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GeneCardsi
CASZ1
HGNCiHGNC:26002 CASZ1
HPAiHPA028222
HPA029927
MIMi609895 gene
neXtProtiNX_Q86V15
OpenTargetsiENSG00000130940
PharmGKBiPA142672203

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4377 Eukaryota
ENOG410XRBA LUCA
GeneTreeiENSGT00390000008187
HOVERGENiHBG080122
InParanoidiQ86V15
OMAiFLHKVHF
OrthoDBiEOG091G0364
PhylomeDBiQ86V15
TreeFamiTF324787

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CASZ1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CASZ1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
54897

Protein Ontology

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PROi
PR:Q86V15

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000130940 Expressed in 198 organ(s), highest expression level in skin of leg
CleanExiHS_CASZ1
ExpressionAtlasiQ86V15 baseline and differential
GenevisibleiQ86V15 HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCASZ1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q86V15
Secondary accession number(s): Q078S9
, Q2EN02, Q5T9S1, Q6ZNM8, Q8WX49, Q8WX50, Q9BT16, Q9NXC6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: July 13, 2010
Last modified: November 7, 2018
This is version 137 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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