CleftGeneDB-Search

Gene: Luzp1

Basic information

Tag	Content
Uniprot ID	Q8R4U7; A3KG96; Q3UV18; Q7TS71; Q8BQW1; Q99NG3; Q9CSL6;
Entrez ID	269593
Genbank protein ID	AAM00269.1; AAA98795.1; BAE23455.1; AAH53451.1; BAB28289.1; BAC32681.2;
Genbank nucleotide ID	NM_024452.2; XM_006538921.1;
Ensembl protein ID	ENSMUSP00000101475; ENSMUSP00000060619; ENSMUSP00000130758; ENSMUSP00000001116;
Ensembl nucleotide ID	ENSMUSG00000001089
Gene name	Leucine zipper protein 1
Gene symbol	Luzp1
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage
Data sources	Manually collected
Reference	18801334
Functional description
Sequence	MAELTNYKDA ASNRHLRFKL QSLSRRLDEL EEATKNLQRA EDELLDLQDK VIQAEGSDSS 60 TLAEIEVLRQ RVLKIEGKDE EIKRAEDLCH TMKEKLEEEE NLTRELKSEI ERLQKRMVDL 120 EKLEEALSRS KNECSQLCLS LNEERNLTKK ISSELEMLRV KVKELESSED RLDKTEQSLV 180 SELEKLKSLT LSFVNERKYL NEKEKENEKI IKELTQKLEQ NKKMNRDHMR NASTFLERND 240 LRIEDGISST LSSKESKRKG SLDYLKQVEN ETRDKSENEK NRNQEDNKVK DLNQEIEKLK 300 TQIKHFESLE EELKKMRAKN NDLQDNYLTE LNRNRSLASQ LEEIKLQVRK QKELGNGDIE 360 GEDAFLLGRG RHERTKLKGH GSEASVSKHT SRELSPQHKR ERLRNREFAL SNEHYSLSSK 420 QASSPVFTNK RAAKASNMGM GTDSGTQETK RTEDRFAPGS SHSEGKRGRE QPSVLSRYPP 480 AAQEHTKVWK GAPKPGTESG LKGKVEKTTR TFSDSTHVSV PNDIVGKGDK TSDLSSEAHC 540 GKRGQVPGHA SQGTQAVESS CSKAIGALSS SQKASSEGLS KGKKTANGLA ADANFSNSKA 600 PILSKYPYSS RSQENILQGF SLPNKEGVDQ PVAVVMEDSS QHEALRCRVI KSSGREKPDS 660 DDDLDIESFV TAKLVNTTIT PEPEPKPQPN SREKVKSRGG TRTALFENDK NAAIENDSVK 720 PTRPSSNAIE FPDANCAGVK NQRPFSPREA LRSRAIIKPV IIDKDVKKIM GGSGTEVVLE 780 KQKSTSKSVT SKVTSSITIY PSDSSGPRAV PSEAPRERHT STSNIQVGPP ELTAISNHVS 840 SPLELSIHKH DITLQLTEAE RVGDGSPKNR AEMVVSRSSI LIKPSESVEK NSHVPPAETI 900 RWKSHSASSD SRHITVRNAW KSKRDLKCSE DPPTGIGRNM EATNAYTQRP CTDFLELEQP 960 RSQPSEQGAR RVGNSGDAPE LSPRRTQSSL TASEVLTRRD RMGGAITAAS CNHSSSMEEG 1020 EDSTFVTSRR IHNPLEHSEL PGKQGLPEPE PVWTEERLHP AKPYAEED 1068

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	LUZP1	100684994	A0A5F4CYC6		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	LUZP1		A0A452GA43		Capra hircus	Prediction	More>>
1:1 ortholog	LUZP1	7798	Q86V48		Homo sapiens	Prediction	More>>
1:1 ortholog	Luzp1	269593	Q8R4U7	CPO	Mus musculus	Publication	More>>
1:1 ortholog	LUZP1	469217	A0A2I3RPT2		Pan troglodytes	Prediction	More>>
1:1 ortholog	LUZP1	100620499	I3LNF8		Sus scrofa	Prediction	More>>
1:1 ortholog	Luzp1	79428	G3V7L9		Rattus norvegicus	Prediction	More>>
1:1 ortholog	luzp1	558606	X1WFU1		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs216977252	p.Thr5Ala	missense variant	-	NC_000070.6:g.136540480A>G	UniProt
rs259099510	p.Glu297Val	missense variant	-	NC_000070.6:g.136541357A>T	UniProt
rs245844568	p.Ala338Val	missense variant	-	NC_000070.6:g.136541480C>T	UniProt
rs259086368	p.Val518Gly	missense variant	-	NC_000070.6:g.136542020T>G	UniProt
rs229336070	p.Lys527Arg	missense variant	-	NC_000070.6:g.136542047A>G	UniProt
rs236439775	p.Ala574Thr	missense variant	-	NC_000070.6:g.136542187G>A	UniProt
rs256622499	p.Thr585Ala	missense variant	-	NC_000070.6:g.136542220A>G	UniProt
rs214447707	p.Ile602Val	missense variant	-	NC_000070.6:g.136542271A>G	UniProt
rs235979478	p.Pro607Leu	missense variant	-	NC_000070.6:g.136542287C>T	UniProt
rs236087837	p.Ile729Val	missense variant	-	NC_000070.6:g.136542652A>G	UniProt
rs252769476	p.Gln742Leu	missense variant	-	NC_000070.6:g.136542692A>T	UniProt
rs220302155	p.Leu779Ser	missense variant	-	NC_000070.6:g.136542803T>C	UniProt
rs587456465	p.Ser911Thr	missense variant	-	NC_000070.6:g.136543199G>C	UniProt
rs46739556	p.Gly935Arg	missense variant	-	NC_000070.6:g.136543270G>C	UniProt
rs244043493	p.Pro950Ser	missense variant	-	NC_000070.6:g.136543315C>T	UniProt
rs262720802	p.Cys951Ser	missense variant	-	NC_000070.6:g.136543319G>C	UniProt
rs236038597	p.Cys951Arg	missense variant	-	NC_000070.6:g.136543318T>C	UniProt
rs580697239	p.Thr952Ser	missense variant	-	NC_000070.6:g.136543321A>T	UniProt
rs45976657	p.Gln963His	missense variant	-	NC_000070.6:g.136543356G>C	UniProt
rs257879728	p.Gly968Asp	missense variant	-	NC_000070.6:g.136543370G>A	UniProt
rs47242903	p.Arg971Lys	missense variant	-	NC_000070.6:g.136543379G>A	UniProt
rs47176166	p.Asn974Ser	missense variant	-	NC_000070.6:g.136543388A>G	UniProt
rs51908269	p.Leu981Arg	missense variant	-	NC_000070.6:g.136543409T>G	UniProt
rs47633350	p.Pro983Ser	missense variant	-	NC_000070.6:g.136543414C>T	UniProt
rs261744631	p.Asp1000Asn	missense variant	-	NC_000070.6:g.136543465G>A	UniProt
rs248286014	p.Gly1004Asp	missense variant	-	NC_000070.6:g.136543478G>A	UniProt
rs46341811	p.Cys1011Trp	missense variant	-	NC_000070.6:g.136543500C>G	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003674	molecular_function	ND

GO:Biological Process

GO ID	GO Term	Evidence
GO:0003281	ventricular septum development	IMP
GO:0021503	neural fold bending	IMP
GO:0021503	neural fold bending	IBA
GO:0060840	artery development	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0175	Coiled coil
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR026734	Luzp1

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term

Gene: Luzp1

Basic information

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction