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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ZNRF1 Gene

protein-coding GIFtS: 56
GCID: GC16P075033

Zinc And Ring Finger 1, E3 Ubiquitin Protein Ligase

(Previous name: zinc and ring finger 1)

Alzheimer's & Parkinson's Diseases Congress

1 related disease
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Zinc And Ring Finger 1, E3 Ubiquitin Protein Ligase¹ ²		E3 Ubiquitin-Protein Ligase ZNRF1²
NIN283² ³ ⁵		Nerve Injury Gene 283²
Nerve Injury-Induced Gene 283 Protein² ³		Zinc And Ring Finger Protein 1²
Zinc/RING Finger Protein 1² ³		EC 6.3.2.-³
Zinc And Ring Finger 1¹		EC 6.3.2⁸

External Ids:	HGNC: 18452¹	Entrez Gene: 84937²	Ensembl: ENSG00000186187⁷	OMIM: 612060⁵	UniProtKB: Q8ND25³

Export aliases for ZNRF1 gene to outside databases

Previous GC identifers: GC16P074812 GC00U917013 GC16P073590 GC16P060784

(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 ZNRF1 Gene:

This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression

of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger

motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in

ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. (provided by RefSeq, Feb

2012)

GeneCards Summary for ZNRF1 Gene:

ZNRF1 (zinc and ring finger 1, E3 ubiquitin protein ligase) is a protein-coding gene. Diseases associated with ZNRF1 include neuronitis. GO annotations related to this gene include ubiquitin-protein ligase activity and zinc ion binding. An important paralog of this gene is ZNRF2.

UniProtKB/Swiss-Prot: ZNRF1_HUMAN, Q8ND25

Function: E3 ubiquitin-protein ligase that mediates the ubiquitination of AKT1 and GLUL, thereby playing a role in

neuron cells differentiation. Plays a role in the establishment and maintenance of neuronal transmission and

plasticity. Regulates Schwann cells differentiation by mediating ubiquitination of GLUL. Promotes

neurodegeneration by mediating 'Lys-48'-linked polyubiquitination and subsequent degradation of AKT1 in axons:

degradation of AKT1 prevents AKT1-mediated phosphorylation of GSK3B, leading to GSK3B activation and

phosphorylation of DPYSL2/CRMP2 followed by destabilization of microtubule assembly in axons (Probable)

Gene Wiki entry for ZNRF1 Gene

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NT_010498.15 NC_018927.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ZNRF1 gene promoter:
AML1a AP-2gamma Meis-1b AREB6 STAT3 AP-2beta Meis-1a AP-2alpha Meis-1 AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ZNRF1 promoter sequence

Search SABiosciences Chromatin IP Primers for ZNRF1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNRF1

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

Entrez Gene cytogenetic band: 16q23.1 Ensembl cytogenetic band: 16q23.1 HGNC cytogenetic band: 16q22.3

ZNRF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNRF1 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P075033: view genomic region (about GC identifiers)

Start:	75,032,915 bp from pter	End:	75,144,892 bp from pter
Size:	111,978 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ZNRF1_HUMAN, Q8ND25 (See protein sequence)

Recommended Name: E3 ubiquitin-protein ligase ZNRF1

Size: 227 amino acids; 23783 Da

Subunit: Interacts with AKT1, GLUL and TUBB2A (By similarity)

Subcellular location: Endosome. Lysosome. Membrane; Peripheral membrane protein. Cytoplasmic vesicle, secretory

vesicle, synaptic vesicle membrane; Peripheral membrane protein (Potential). Note=Associated with synaptic

vesicle membranes in neurons

Secondary accessions: D3DUJ9 Q9H083

Alternative splicing: 2 isoforms: Q8ND25-1 Q8ND25-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ZNRF1: NX_Q8ND25

Explore proteomics data for ZNRF1 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q8ND25

3 DME Specific Peptides for ZNRF1 (Q8ND25)

CSKSVAS

QGDTIARLPCLCIYHK

HFIMCLSKPRLSYNDDVL

ZNRF1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_115644.1

ENSEMBL proteins:

ENSP00000335091 ENSP00000323362 ENSP00000456168 ENSP00000455601 ENSP00000462910

ENSP00000457606

Human Recombinant Protein Products for ZNRF1:

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	Cloud-Clone Corp. Proteins for ZNRF1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	lysosome	IEA	--
GO:0005768	endosome	IDA	--
GO:0030054	cell junction	IEA	--
GO:0030672	synaptic vesicle membrane	IEA	--

ZNRF1 for ontologies About GeneDecksing

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

HGNC Gene Families:

RNF: RING-type (C3HC4) zinc fingers

2 InterPro protein domains:

IPR001841 Znf_RING

IPR013083 Znf_RING/FYVE/PHD

Graphical View of Domain Structure for InterPro Entry Q8ND25

ProtoNet protein and cluster: Q8ND25

1 Blocks protein domain: IPB001841 Zn-finger

UniProtKB/Swiss-Prot: ZNRF1_HUMAN, Q8ND25

Domain: The RING-type zinc finger domain is required for E3 ligase activity (By similarity)

Similarity: Contains 1 RING-type zinc finger

ZNRF1 for domains About GeneDecksing

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: ZNRF1_HUMAN, Q8ND25

Function: E3 ubiquitin-protein ligase that mediates the ubiquitination of AKT1 and GLUL, thereby playing a role in

neuron cells differentiation. Plays a role in the establishment and maintenance of neuronal transmission and

plasticity. Regulates Schwann cells differentiation by mediating ubiquitination of GLUL. Promotes

neurodegeneration by mediating 'Lys-48'-linked polyubiquitination and subsequent degradation of AKT1 in axons:

degradation of AKT1 prevents AKT1-mediated phosphorylation of GSK3B, leading to GSK3B activation and

phosphorylation of DPYSL2/CRMP2 followed by destabilization of microtubule assembly in axons (Probable)

Enzyme Numbers (IUBMB): EC 6.3.2.-¹ EC 6.3.2²

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004842	ubiquitin-protein ligase activity	ISS	--
GO:0005515	protein binding	IPI	19549727
GO:0008270	zinc ion binding	IEA	--
GO:0046872	metal ion binding	--	--

ZNRF1 for ontologies About GeneDecksing

Phenotypes:
4 GenomeRNAi human phenotypes for ZNRF1:

G0/1 arrest

Increased G1 DNA content

Increased cell death HMECs cel

Synthetic lethal with Ras

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for ZNRF1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ZNRF1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ZNRF1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ZNRF1

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ZNRF1
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		hsa-miR-3607-3p hsa-miR-607 hsa-miR-642a hsa-miR-1914* hsa-miR-938 hsa-miR-219-5p hsa-miR-30d hsa-miR-371-5p

		SwitchGear 3'UTR luciferase reporter plasmid: ZNRF1 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNRF1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

UniProtKB/Swiss-Prot: ZNRF1_HUMAN, Q8ND25

Pathway: Protein modification; protein ubiquitination

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ZNRF1

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

5/15 Interacting proteins for ZNRF1 (Q8ND25^{1, 3} ENSP00000335091⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBE2D2	P62837¹^,³, ENSP00000381717⁴	EBI-2129250,EBI-347677 I2D: score=2 STRING: ENSP00000381717
UBE2D3	P61077¹^,³, ENSP00000349722⁴	EBI-2129250,EBI-348268 I2D: score=2 STRING: ENSP00000349722
UBE2N	P61088¹^,³, ENSP00000316176⁴	EBI-2129250,EBI-1052908 I2D: score=2 STRING: ENSP00000316176
UBE2V1	Q13404¹^,³, ENSP00000340305⁴	EBI-2129250,EBI-1050671 I2D: score=2 STRING: ENSP00000340305
UBE2D1	P51668¹^,³, ENSP00000363019⁴	EBI-2129250,EBI-743540 I2D: score=2 STRING: ENSP00000363019

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:0043161	proteasomal ubiquitin-dependent protein catabolic process	ISS	--
GO:0070936	protein K48-linked ubiquitination	ISS	--

ZNRF1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 ZNRF1

4 HMDB Compounds for ZNRF1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine monophosphate	5'-AMP (see all 28)	61-19-8	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Phosphoric acid	acide phosphorique (FRENCH) (see all 20)	7664-38-2	--
Pyrophosphate	(4-)Diphosphoric acid ion (see all 10)	14000-31-8	--

Search CenterWatch for drugs/clinical trials and news about ZNRF1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ZNRF1 gene:

NM_032268.4

Unigene Cluster for ZNRF1:

Zinc and ring finger 1, E3 ubiquitin protein ligase

Hs.427284 [show with all ESTs]

Unigene Representative Sequence: NM_032268

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000335325(uc010vmz.1 uc002fdk.3 uc002fdl.1 uc010cgr.1)

ENST00000320619 ENST00000566250 ENST00000567962 ENST00000564320 ENST00000568511

ENST00000579084 ENST00000566244 ENST00000568351 ENST00000568494 ENST00000568844

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		hsa-miR-3607-3p hsa-miR-607 hsa-miR-642a hsa-miR-1914* hsa-miR-938 hsa-miR-219-5p hsa-miR-30d hsa-miR-371-5p

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Additional mRNA sequence:

AK027752.1 AK294434.1 AL136903.1 AL834440.1 BC007235.1

8 DOTS entries:

DT.311875 DT.100792987 DT.100760151 DT.100029009 DT.100775890 DT.95279682 DT.100645627 DT.121625620

24/234 AceView cDNA sequences (see all 234):

AL390144 BE500924 BE669871 AI635536 AI031696 CR623763 BE550856 AI758253

BX104196 AW105734 CR611561 BU856635 AW236931 AI590742 NM_032268 AI561230

BM791765 AL136903 BI914730 CR615201 AI650345 AW673271 CR594702 BE671247

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for ZNRF1 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b
SP1:					-		-
SP2:					-		-				-
SP3:					-		-				-								-
SP4:											-
SP5:

ECgene alternative splicing isoforms for ZNRF1

(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

ZNRF1 expression in normal human tissues (normalized intensities) ZNRF1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GTTCTCCCTT

About this image

ZNRF1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/30 selected tissues (see all 30) fully expand


Testis (Reproductive System) fully expand to see all 4 entries
Leydig Cells Testis Interstitium
seminal vesicle ; glandular cells

Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Colon (Gastrointestinal Tract) fully expand to see all 3 entries
rectum ; glandular cells

Tonsil (Hematopoietic System) fully expand to see all 3 entries
tonsil ; squamous epithelial cells

Epithelium (Uncategorized) fully expand to see all 3 entries
oral mucosa ; squamous epithelial cells

See ZNRF1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ZNRF1

SOURCE GeneReport for Unigene cluster: Hs.427284

UniProtKB/Swiss-Prot: ZNRF1_HUMAN, Q8ND25

Tissue specificity: Expressed primarily in the nervous system, with expression higher in developing brain relative

to adult. Expressed at low levels in testis and thymus

SABiosciences Expression via Pathway-Focused PCR Array including ZNRF1:

Ubiquitin Ligases in human mouse rat

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In Situ
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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 ZNRF1 gene from 7/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Znrf1^{1 , 5}	zinc and ring finger 1^{1, 5}	95.01(n)¹ 99.12(a)¹		8 (57.98 cM)⁵ 170737¹ NM_001168621.1¹ NP_001162092.1¹ 111536097⁵
chicken (Gallus gallus)	Aves	ZNRF1¹	zinc and ring finger 1	90.1(n) 98.44(a)		425231 XM_003641904.1 XP_003641952.1
lizard (Anolis carolinensis)	Reptilia	ZNRF1⁶	Uncharacterized protein	98(a)	1 ↔ 1	GL343840.1(33966-34854)
African clawed frog (Xenopus laevis)	Amphibia	BC047964.1²	--	81.76(n)		BC047964.1
zebrafish (Danio rerio)	Actinopterygii	zgc77896²	hypothetical protein MGC77896	79.69(n)		393844 BC063239.1
fruit fly (Drosophila melanogaster)	Insecta	CG14435⁶	--	30(a)	1 → many	X(6733455-6737953)
worm (Caenorhabditis elegans)	Secernentea	Y71F9AL.10⁶	Protein Y71F9AL.10	38(a)	1 → many	I(2866429-2869376)

ENSEMBL Gene Tree for ZNRF1 (if available)
TreeFam Gene Tree for ZNRF1 (if available)

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

Paralogs for ZNRF1 gene

ZNRF2²

1 SIMAP similar gene for ZNRF1 using alignment to 5 protein entries: ZNRF1_HUMAN (see all proteins):

ZNRF2

ZNRF1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for ZNRF1
PGOHUM00000238232

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs143265489^1,2		--	75030941(+)	`AATACC/TTGTGA`	1	--	us2k¹		0	--	--	--	--
rs147541904^1,2		--	75030948(+)	`GTGACA/GGGCTA`	1	--	us2k¹		0	--	--	--	--
rs73612081^1,2	C,F	--	75030951(+)	`ACGGGC/GTAGCC`	1	--	us2k¹		2		WA	120
rs192741065^1,2		--	75031007(+)	`GGTCCC/TCCAGT`	1	--	us2k¹		0	--	--	--	--
rs185028961^1,2		--	75031010(+)	`CCCCCA/GGTTTA`	1	--	us2k¹		0	--	--	--	--
rs138449463^1,2		--	75031040(+)	`AATAGA/GTGGAA`	1	--	us2k¹		0	--	--	--	--
rs147793779^1,2	C	--	75031244(+)	`TACAC-/ATATATA`	1	--	us2k¹		0	--	--	--	--
rs9708605^1,2	C,F	--	75031253(+)	`TATATA/GTATCA`	1	--	us2k¹		2		NA EA	240
rs201739917^1,2		--	75031416(+)	`GGCTA-/AATT ATTTA`	1	--	us2k¹		0	--	--	--	--
rs138696383^1,2	C	--	75031438(+)	`TTTCA-/TATTTT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ZNRF1 (75032915 - 75144892 bp)

Structural Variations
Database of Genomic Variants (DGV) 8 variations for ZNRF1: About this table

Variant ID	Type	Subtype	PubMed ID
esv2714703	CNV	Deletion	23290073
esv1789347	CNV	Deletion	17803354
esv2714704	CNV	Deletion	23290073
esv3003	CNV	Deletion	18987735
nsv1878	CNV	Insertion	18451855
nsv833280	CNV	Loss	17160897
nsv906908	CNV	Loss	21882294
nsv103814	CNV	Loss	16902084

Human Gene Mutation Database (HGMD): ZNRF1

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

OMIM gene information: 612060 OMIM disorders: --

2 diseases for ZNRF1: About MalaCards

neuronitis

ZNRF1 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
Genetic Association Database (GAD): ZNRF1
Human Genome Epidemiology (HuGE) Navigator: ZNRF1 (1 document)

Export disorders for ZNRF1 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 ZNRF1 gene, integrated from 9 sources (see all 19):
(articles sorted by number of sources associating them with ZNRF1)

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

Fine mapping and association studies of a high-densit y lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian su bjects. (PubMed id 19844255)^{1, 4} Dastani Z....Genest J. (2010)
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)
ZNRF proteins constitute a family of presynaptic E3 ubiquitin ligases. (PubMed id 14561866)^{1, 2} Araki T. and Milbrandt J. (2003)
Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)^{1, 2} Wiemann S.... Poustka A. (2001)
Identification of genes induced in peripheral nerve after injury. Expression profiling and novel gene discovery. (PubMed id 11427537)^{1, 2} Araki T.... Milbrandt J. (2001)
Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease. (PubMed id 23665963)¹ Dubinsky M.C....McGovern D.P. (2013)
ZNRF2 is released from membranes by growth factors and , together with ZNRF1, regulates the Na+/K+ATPase. (PubMed id 22797923)¹ Hoxhaj G....MacKintosh C. (2012)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network. (PubMed id 19549727)¹ Markson G....Sanderson C.M. (2009)
Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)² Mayya V.... Han D.K. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 84937	HGNC: 18452	AceView: ZNRF1	Ensembl:ENSG00000186187	euGenes: HUgn84937
ECgene: ZNRF1	H-InvDB: ZNRF1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ZNRF1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ZNRF1 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 ZNRF1 gene:
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GeneCards and IP:
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Zinc And Ring Finger 1, E3 Ubiquitin Protein Ligase

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Zinc And Ring Finger 1, E3 Ubiquitin Protein Ligase

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