NXPE1 Gene (Protein Coding)

Neurexophilin And PC-Esterase Domain Family Member 1

GC11M114521
GIFtS:
31
See more...

Aliases for NXPE1 Gene

Aliases for NXPE1 Gene

  • Neurexophilin And PC-Esterase Domain Family Member 1 2 3 5
  • Family With Sequence Similarity 55, Member A 2 3
  • NXPE Family Member 1 3 4
  • Protein FAM55A 3 4
  • FAM55A 3 4
  • Neurexophilin And PC-Esterase Domain Family, Member 1 2
  • MGC34290 2
  • NXPE1 5

External Ids for NXPE1 Gene

Previous HGNC Symbols for NXPE1 Gene

  • FAM55A

Previous GeneCards Identifiers for NXPE1 Gene

  • GC11M114393

Summaries for NXPE1 Gene

GeneCards Summary for NXPE1 Gene

NXPE1 (Neurexophilin And PC-Esterase Domain Family Member 1) is a Protein Coding gene. An important paralog of this gene is NXPE2.

Additional gene information for NXPE1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NXPE1 Gene

Genomics for NXPE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NXPE1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J114559 Promoter 0.6 EPDnew 262.5 +0.3 343 0.1 FEZF1 ZNF843 PRDM6 ZSCAN5C NXPE1 MN309174-090 HSALNG0087319 NXPE2
GH11J114560 Promoter 0.4 EPDnew 250.7 +0.0 31 0.1 ZNF843 NXPE1 MN309174-090 HSALNG0087319 NXPE2
GH11J114561 Enhancer 0.3 Ensembl 262.3 +0.8 843 0.4 PRDM1 NXPE1 MN309174-090 HSALNG0087319 NXPE2
GH11J113872 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 +685.5 685451 4.8 TBP FEZF1 MNT SMAD5 IRF2 HES1 ZFP64 MBD2 POLR2A BHLHE40 USP28 lnc-HTR3B-3 ENSG00000270179 RBM7 NXPE4 TTC12 ZW10 NXPE1 LRRC37A13P RF00066-041
GH11J114214 Enhancer 1.8 UCNEbase FANTOM5 Ensembl ENCODE dbSUPER 10.9 +342.3 342319 6.2 TBP FEZF1 IKZF1 HES1 MBD2 ARNT ZNF395 NFATC3 VEZF1 NBN RBM7 ZW10 NNMT NXPE4 NXPE1 TTC12 ENSG00000270179 ZBTB16 lnc-NNMT-3 piR-34504
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NXPE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NXPE1

Genomic Locations for NXPE1 Gene

Latest Assembly
chr11:114,518,934-114,560,244
(GRCh38/hg38)
Size:
41,311 bases
Orientation:
Minus strand

Previous Assembly
chr11:114,389,656-114,430,603
(GRCh37/hg19 by Entrez Gene)
Size:
40,948 bases
Orientation:
Minus strand

chr11:114,392,437-114,430,617
(GRCh37/hg19 by Ensembl)
Size:
38,181 bases
Orientation:
Minus strand

Genomic View for NXPE1 Gene

Genes around NXPE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NXPE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NXPE1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NXPE1 Gene

Proteins for NXPE1 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for NXPE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N323-NXPE1_HUMAN
    Recommended name:
    NXPE family member 1
    Protein Accession:
    Q8N323
    Secondary Accessions:
    • B0YJ13

    Protein attributes for NXPE1 Gene

    Size:
    547 amino acids
    Molecular mass:
    63178 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NXPE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NXPE1 Gene

Protein Expression for NXPE1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NXPE1 Gene

  • Glycosylation at Asn39 and Asn211
  • Modification sites at PhosphoSitePlus

Other Protein References for NXPE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for NXPE1

No data available for DME Specific Peptides for NXPE1 Gene

Domains & Families for NXPE1 Gene

Gene Families for NXPE1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for NXPE1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NXPE1 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM55A (FA55A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N323

UniProtKB/Swiss-Prot:

NXPE1_HUMAN :
  • Belongs to the NXPE family.
Family:
  • Belongs to the NXPE family.
genes like me logo Genes that share domains with NXPE1: view

Function for NXPE1 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Phenotypes From GWAS Catalog for NXPE1 Gene

Gene Ontology (GO) - Molecular Function for NXPE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32814053
genes like me logo Genes that share ontologies with NXPE1: view
genes like me logo Genes that share phenotypes with NXPE1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NXPE1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NXPE1 Gene

Localization for NXPE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NXPE1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NXPE1 gene
Compartment Confidence
extracellular 5
cytosol 2
peroxisome 1
nucleus 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NXPE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NXPE1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NXPE1 Gene

Pathways & Interactions for NXPE1 Gene

PathCards logo

SuperPathways for NXPE1 Gene

No Data Available

Interacting Proteins for NXPE1 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q8N323-NXPE1_HUMAN ENSP00000251921 for NXPE1 Gene via UniProtKB STRING

GPS-Prot Interaction Network for NXPE1

Gene Ontology (GO) - Biological Process for NXPE1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NXPE1 Gene

Drugs & Compounds for NXPE1 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for NXPE1 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for NXPE1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NXPE1

Alternative Splicing Database (ASD) splice patterns (SP) for NXPE1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10
SP1: -
SP2: - - - - - -
SP3: -

Relevant External Links for NXPE1 Gene

GeneLoc Exon Structure for
NXPE1

Expression for NXPE1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NXPE1 Gene

mRNA expression in normal human tissues for NXPE1 Gene
mRNA expression by GTEx for NXPE1 GenemRNA expression by BioGPS for NXPE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Colon (Gastrointestinal Tract)

mRNA differential expression in normal tissues according to GTEx for NXPE1 Gene

This gene is overexpressed in Colon - Transverse (x44.7).

Protein differential expression in normal tissues from HIPED for NXPE1 Gene

This gene is overexpressed in Rectum (50.7) and Colon (18.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NXPE1 Gene



Protein tissue co-expression partners for NXPE1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NXPE1

SOURCE GeneReport for Unigene cluster for NXPE1 Gene:

Hs.721328

Evidence on tissue expression from TISSUES for NXPE1 Gene

  • Intestine(4.4)
genes like me logo Genes that share expression patterns with NXPE1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NXPE1 Gene

Orthologs for NXPE1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NXPE1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NXPE1 30 31
  • 98.68 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia RGD1566243 30
  • 76.82 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 60 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 49 (a)
 ManyToMany
-- 31
  • 44 (a)
 ManyToMany
-- 31
  • 42 (a)
 ManyToMany
Cow
(Bos Taurus)
 Mammalia -- 31
  • 23 (a)
 ManyToMany
Mouse
(Mus musculus)
 Mammalia Nxpe5 31
  • 23 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 49 (a)
 ManyToMany
-- 31
  • 45 (a)
 ManyToMany
-- 31
  • 43 (a)
 ManyToMany
Zebrafish
(Danio rerio)
 Actinopterygii si:ch211-162k9.5 31
  • 22 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 24 (a)
 ManyToMany
-- 31
  • 21 (a)
 ManyToMany
-- 31
  • 19 (a)
 ManyToMany
-- 31
  • 18 (a)
 ManyToMany
-- 31
  • 18 (a)
 ManyToMany
-- 31
  • 12 (a)
 ManyToMany
-- 31
  • 12 (a)
 ManyToMany
-- 31
  • 12 (a)
 ManyToMany
-- 31
  • 9 (a)
 ManyToMany
Species where no ortholog for NXPE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NXPE1 Gene

ENSEMBL:
Gene Tree for NXPE1 (if available)
TreeFam:
Gene Tree for NXPE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NXPE1: view image

Paralogs for NXPE1 Gene

Paralogs for NXPE1 Gene

(3) SIMAP similar genes for NXPE1 Gene using alignment to 5 proteins:

  • NXPE1_HUMAN
  • F5H0Y6_HUMAN
  • F5H259_HUMAN
  • F5H6W7_HUMAN
  • G3V1T0_HUMAN

Pseudogenes.org Pseudogenes for NXPE1 Gene

genes like me logo Genes that share paralogs with NXPE1: view

Variants for NXPE1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NXPE1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs142774949 Benign: not provided 114,530,438(-) C/T
NM_152315.5(NXPE1):c.144G>A (p.Ser48=) 		SYNONYMOUS
rs77697681 Benign: not provided 114,522,397(-) G/A
NM_152315.5(NXPE1):c.789C>T (p.Phe263=) 		SYNONYMOUS
rs79538449 Benign: not provided 114,523,035(-) C/T
NM_152315.5(NXPE1):c.526G>A (p.Gly176Ser) 		MISSENSE
rs10891692 - p.Gly353Arg
rs34993124 - p.Ile423Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NXPE1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NXPE1 Gene

Variant ID Type Subtype PubMed ID
dgv725n106 CNV duplication 24896259
esv2302049 CNV deletion 18987734
esv2400658 CNV deletion 18987734
esv2436910 CNV deletion 19546169
esv2543979 CNV deletion 19546169
esv2745094 CNV deletion 23290073
esv2745095 CNV deletion 23290073
esv2745096 CNV deletion 23290073
esv2745098 CNV deletion 23290073
esv2759865 CNV gain 17122850
esv3155800 CNV deletion 24192839
esv3255162 CNV deletion 24192839
esv3417966 CNV duplication 20981092
esv3627791 CNV loss 21293372
esv7013 CNV loss 19470904
nsv1053425 CNV loss 25217958
nsv1075840 CNV duplication 25765185
nsv1113435 CNV deletion 24896259
nsv1113436 CNV deletion 24896259
nsv1119914 CNV deletion 24896259
nsv1122668 CNV deletion 24896259
nsv1130661 CNV deletion 24896259
nsv1145570 CNV deletion 24896259
nsv1147639 CNV duplication 26484159
nsv38546 CNV deletion 16902084
nsv476305 CNV novel sequence insertion 20440878
nsv512241 CNV loss 21212237
nsv832274 CNV gain 17160897
nsv952736 CNV duplication 24416366
nsv975228 CNV duplication 23825009
nsv975980 CNV duplication 23825009

Variation tolerance for NXPE1 Gene

Residual Variation Intolerance Score: 66.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.77; 94.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NXPE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NXPE1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NXPE1 Gene

Disorders for NXPE1 Gene

Additional Disease Information for NXPE1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for NXPE1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NXPE1 Gene

Publications for NXPE1 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  2. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  3. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PMID: 23128233) Jostins L … Cho JH (Nature 2012) 3
  4. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (PMID: 21297633) Anderson CA … Rioux JD (Nature genetics 2011) 3
  5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 4

ExternalLinks

View latest publications for NXPE1 gene in Mastermind

Products for NXPE1 Gene

Sources for NXPE1 Gene