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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LZTR1 Gene

protein-coding GIFtS: 54
GCID: GC22P021339

leucine-zipper-like transcription regulator 1

(Previous name: leucine-zipper-like transcriptional regulator 1 )

Explore 1 disease affiliated with
LZTR1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Leucine-Zipper-Like Transcription Regulator 1¹ ²
LZTR-1¹ ² ³
BTBD29¹ ²
Leucine-Zipper-Like Transcriptional Regulator 1¹ ²
Leucine-Zipper-Like Regulator-1²
TCFL2³

External Ids:	HGNC: 6742¹	Entrez Gene: 8216²	Ensembl: ENSG00000099949⁷	OMIM: 600574⁵	UniProtKB: Q8N653³

Export aliases for LZTR1 gene to outside databases

Previous GC identifers: GC22P018035 GC22P019660 GC22P019661 GC22P004604

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LZTR1:

This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator

based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been

shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this

gene may be associated with DiGeorge syndrome. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: LZTR1_HUMAN, Q8N653

Function: Probable transcriptional regulator that may play a crucial role in embryogenesis

Gene Wiki entry for LZTR1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.1 NT_011520.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LZTR1 gene promoter:
STAT1 Tal-1 STAT1beta E47 STAT1alpha PPAR-alpha PPAR-gamma1 PPAR-gamma2 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LZTR1 promoter sequence

Search SABiosciences Chromatin IP Primers for LZTR1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LZTR1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11.21|22q11.1-q11.2 Ensembl cytogenetic band: 22q11.21 HGNC cytogenetic band: 22q11.21

LZTR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LZTR1 gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22P021339: view genomic region (about GC identifiers)

Start:	21,333,751 bp from pter	End:	21,353,327 bp from pter
Size:	19,577 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LZTR1_HUMAN, Q8N653 (See protein sequence)

Recommended Name: Leucine-zipper-like transcriptional regulator 1

Size: 840 amino acids; 94719 Da

Developmental stage: Expressed in fetal brain, heart, kidney, liver and lung

Sequence caution: Sequence=BAA07508.1; Type=Frameshift; Positions=16, 69, 222;

Secondary accessions: Q14776 Q20WK0

Explore the universe of human proteins at neXtProt for LZTR1: NX_Q8N653

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N653

LZTR1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_006758.2

ENSEMBL proteins:

ENSP00000215739 ENSP00000397247 ENSP00000406466 ENSP00000393765 ENSP00000390836

ENSP00000408789 ENSP00000397252 ENSP00000374006

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

LZTR1 for domains About GeneDecksing

5 InterPro domains/families:

IPR000210 BTB/POZ-like

IPR006652 Kelch_1

IPR011333 BTB/POZ_fold

IPR013069 BTB_POZ

IPR015915 Kelch-typ_b-propeller

Graphical View of Domain Structure for InterPro Entry Q8N653

ProtoNet protein and cluster: Q8N653

2 Blocks protein families:

IPB000210 BTB/POZ domain

IPB011498 Kelch

UniProtKB/Swiss-Prot: LZTR1_HUMAN, Q8N653

Similarity: Contains 2 BTB (POZ) domains

Similarity: Contains 6 Kelch repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: LZTR1_HUMAN, Q8N653

Function: Probable transcriptional regulator that may play a crucial role in embryogenesis

Genatlas biochemistry entry for LZTR1:

leucine zipper-like transcriptional regulator 1,deleted in DiGeorge syndrome

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	sequence-specific DNA binding transcription factor activity	TAS	7633402

LZTR1 for ontologies About GeneDecksing

Phenotypes:
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Lztr1):

craniofacial

homeostasis/metabolism

mortality/aging

LZTR1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for LZTR1

miRNA Products:		OriGene 3'-UTR Clone: LZTR1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LZTR1
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		SwitchGear 3'UTR luciferase reporter plasmid: LZTR1 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LZTR1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for LZTR1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/62 Interacting proteins for LZTR1 (Q8N653³ ENSP00000215739⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 62)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SSX4	O60224³, ENSP00000366083⁴	I2D: score=1 STRING: ENSP00000366083
AATF	Q9NY61³, ENSP00000225402⁴	I2D: score=1 STRING: ENSP00000225402
ANKRD53	Q8N9V6³, ENSP00000353796⁴	I2D: score=1 STRING: ENSP00000353796
ASB12	Q8WXK4³, ENSP00000355195⁴	I2D: score=1 STRING: ENSP00000355195
CHAF1A	Q13111³, ENSP00000301280⁴	I2D: score=1 STRING: ENSP00000301280

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-dependent	TAS	7633402
GO:0009653	anatomical structure morphogenesis	TAS	7633402

LZTR1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LZTR1
Search CenterWatch for drugs/clinical trials and news about LZTR1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LZTR1 gene:

NM_006767.3

Unigene Cluster for LZTR1:

Leucine-zipper-like transcription regulator 1

Hs.78788 [show with all ESTs]

Unigene Representative Sequence: NM_006767

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000479606 ENST00000215739(uc002ztn.3 uc002zto.3 uc011ahy.2)

ENST00000414985 ENST00000493460 ENST00000443265 ENST00000480895 ENST00000497716

ENST00000461510 ENST00000492480 ENST00000415354 ENST00000495142 ENST00000491432

ENST00000439171 ENST00000464807 ENST00000452988 ENST00000463909 ENST00000498649

ENST00000415817

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		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate LZTR1 (see all 9):
		hsa-miR-4300 hsa-miR-330-5p hsa-miR-1285 hsa-miR-3918 hsa-miR-920 hsa-miR-612 hsa-miR-326 hsa-miR-542-3p

		SwitchGear 3'UTR luciferase reporter plasmid: LZTR1 3' UTR sequence

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Additional cDNA sequence:

AK296347.1 AK310747.1 AK313502.1 BC026214.1 BC128172.1 CT841521.1 D38496.1 U79243.1

18 DOTS entries:

DT.444012 DT.100637950 DT.95311096 DT.102840433 DT.92423860 DT.100025561 DT.120667795 DT.100703287

DT.100672200 DT.95166036 DT.95166037 DT.97765266 DT.99974817 DT.101977542 DT.120667789 DT.97823763

DT.100724628 DT.120667794

24/206 AceView cDNA sequences (see all 206):

CR617219 BX279857 AA715048 BQ416972 AI492536 BU735647 BI759539 BQ182728

BM722768 BM562907 AI453247 BC026214 BM765038 CA489669 BQ019651 BU734421

BM772801 CR456342 BM783725 BM705145 BU733514 AI380681 BF196818 CB155418

GeneLoc Exon Structure

5/15 Alternative Splicing Database (ASD) splice patterns (SP) for LZTR1 (see all 15) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11a	·	11b	·	11c	^	12	^	13a	·	13b	·	13c	^	14	^	15	^	16	^	17a	·	17b	·	17c	·
SP1:											-														-																						-		-
SP2:											-		-
SP3:
SP4:											-
SP5:											-		-												-

ExUns:	17d	·	17e	^	18a	·	18b	·	18c	^	19a	·	19b	·	19c	^	20a	·	20b	·	20c	·	20d	^	21a	·	21b	^	22	^	23	^	24a	·	24b	·	24c
SP1:											-		-		-
SP2:
SP3:											-		-		-		-
SP4:
SP5:

ECgene alternative splicing isoforms for LZTR1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

LZTR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAAGGGCCC

About this image

LZTR1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Eye

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See LZTR1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LZTR1

SOURCE GeneReport for Unigene cluster: Hs.78788

SABiosciences Custom PCR Arrays for LZTR1

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for LZTR1 gene from 4/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LZTR1¹	leucine-zipper-like transcription regulator 1	80.54(n) 90.28(a)		421166 XM_419246.3 XP_419246.3
lizard (Anolis carolinensis)	Reptilia	LZTR1⁶	--	83(a)	1 ↔ 1	4(133896723-133924883)
zebrafish (Danio rerio)	Actinopterygii	Dr.19626²	Transcribed sequence with strong similarity to protein more	80.62(n)		BM529284.1
fruit fly (Drosophila melanogaster)	Insecta	EG:BACR7A4.19³ CG3711¹	transcription factor³ CG3711¹	44(a)³ 59.12(n)¹ 54.88(a)¹		1D2³ 31037¹ NM_130513.3¹ NP_569869.2¹

ENSEMBL Gene Tree for LZTR1 (if available)
TreeFam Gene Tree for LZTR1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for LZTR1 gene

KLHDC2² HCFC1² KLHDC3² KLHDC1² RABEPK² KLHDC10² HCFC2²

1 SIMAP similar gene for LZTR1 using alignment to 8 protein entries: LZTR1_HUMAN (see all proteins):

BTBD3

LZTR1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs8136699^1,2	C,F,A,H	--	4602958(+)	`GTGGGA/GAGGGG`	4	--	int¹		17		NS EA NA WA CSA	1896
rs8137006^1,2	C,F	--	4603175(+)	`GAGAGA/TGCTCC`	4	--	int¹		7		NA WA CSA	248
rs61626201^1,2	C,F	--	4603431(+)	`TCTCCC/ATCTGT`	4	--	int¹		5		WA NA CSA	244
rs7292968^1,2	C,F,A,H	--	4603855(+)	`CCCTGC/TCTCTT`	4	--	ut3¹ nc-transcript-varianttrp³		18		NS EA NA WA CSA	2046
rs55920684^1,2	C	--	4604037(+)	`CCAAGG/AAAATT`	4	--	int¹		1		NA	2
rs73392583^1,2	C	--	4604172(+)	`TTCCAG/CGTAGA`	4	--	int¹		2		WA	120
rs77514068^1,2	F	--	4604248(+)	`CTTTGG/CGGCAT`	4	--	int¹		1		WA	118
rs183651390^1,2		--	21334593(+)	`GCAGGC/TTGGTT`	1	--	us2k¹		0	--	--	--	--
rs105033^1,2	C,F,H	--	21334638(+)	`GTGTCC/ACCAGG`	1	--	us2k¹		20		NA EA NS WA CSA	1098
rs186767081^1,2		--	21334715(+)	`AACTGA/GACATA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for LZTR1 (21333751 - 21353327 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for LZTR1
5 CNVs: 5170 50816 30158 30159 50815

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LZTR1

DNA2.0 Custom Variant and Variant Library Synthesis for LZTR1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

LZTR1 for disorders           About GeneDecksing

OMIM gene information: 600574    OMIM disorders: --

1 disease for LZTR1:    About MalaCards

digeorge syndrome

Human Genome Epidemiology (HuGE) Navigator: LZTR1 (2 documents)

Export disorders for LZTR1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for LZTR1 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with LZTR1)

Utopia: connect your pdf to the dynamic
world of online information

Isolation and characterization of a novel gene deleted in DiGeorge syndrome. (PubMed id 7633402)^{1, 2, 3} Kurahashi H.... Nishisho I. (1995)
The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis. (PubMed id 16356934)^{1, 3, 9} Nacak T.G....Kroll J. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (2004)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)¹ Emanuele M.J....Elledge S.J. (2011)
Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)¹ Oguri M....Yamada Y. (2010)
Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)¹ Yoshida T....Yamada Y. (2010)
An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)¹ Ravasi T....Hayashizaki Y. (2010)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8216	HGNC: 6742	AceView: LZTR1andFLJ30473	Ensembl:ENSG00000099949	euGenes: HUgn8216
ECgene: LZTR1	H-InvDB: LZTR1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for LZTR1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for LZTR1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for LZTR1 gene:
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LZTR1 Gene

leucine-zipper-like transcription regulator 1

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LZTR1 Gene

leucine-zipper-like transcription regulator 1

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