The protein encoded by this gene belongs to the FAM114 family and may play a role in neuronal cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017] See more...

Aliases for FAM114A1 Gene

Aliases for FAM114A1 Gene

  • Family With Sequence Similarity 114 Member A1 2 3 5
  • Protein NOXP20 3 4
  • Noxp20 2 3
  • Family With Sequence Similarity 114, Member A1 2
  • Nervous System Over-Expressed Protein 20 3
  • Nervous System Overexpressed Protein 20 4
  • Protein FAM114A1 4
  • FAM114A1 5
  • NOXP20 4

External Ids for FAM114A1 Gene

Previous GeneCards Identifiers for FAM114A1 Gene

  • GC04P038548
  • GC04P038550
  • GC04P038552
  • GC04P038870
  • GC04P038193
  • GC04P038871
  • GC04P038873
  • GC04P038875

Summaries for FAM114A1 Gene

Entrez Gene Summary for FAM114A1 Gene

  • The protein encoded by this gene belongs to the FAM114 family and may play a role in neuronal cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

GeneCards Summary for FAM114A1 Gene

FAM114A1 (Family With Sequence Similarity 114 Member A1) is a Protein Coding gene. An important paralog of this gene is FAM114A2.

UniProtKB/Swiss-Prot Summary for FAM114A1 Gene

Additional gene information for FAM114A1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM114A1 Gene

Genomics for FAM114A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM114A1 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
GH04J038866 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 603.4 +1.2 1232 4.2 HNRNPL GATAD2A REST IKZF1 ZNF692 BACH1 RBFOX2 RXRB IRF2 BRD4 FAM114A1 MIR574 TLR6 piR-50437-508 TMEM156
GH04J038929 Promoter 0.3 EPDnew 600.2 +61.5 61484 0.1 FAM114A1 piR-50437-508 MIR574 TMEM156
GH04J039520 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.5 +657.6 657601 9.1 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST TFE3 SOX13 IKZF1 NFKBIZ UGDH-AS1 UGDH ZBTB12BP N4BP2 PDS5A RPL9 RFC1 SMIM14 ENSG00000255458 ENSG00000250568
GH04J038803 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 12 -62.7 -62689 4 CTCF POLR2A BACH1 STAT3 ZNF143 RELA REST SMAD5 RAD21 TCF12 TLR1 TLR10 piR-36393-382 lnc-TLR1-1 TLR6 FAM114A1 MIR574 ENSG00000249685 ENSG00000249207 piR-43107-233
GH04J038853 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.4 -11.2 -11239 5.7 CEBPG SP1 GATAD2A CTCF ZNF512 RFX1 LEF1 IKZF1 BACH1 JUND TLR6 TLR1 TLR10 FAM114A1 KLF3 KLHL5 piR-40110-530
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM114A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM114A1

Top Transcription factor binding sites by QIAGEN in the FAM114A1 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • GATA-3
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for FAM114A1 Gene

Genomic Locations for FAM114A1 Gene
chr4:38,867,677-38,945,739
(GRCh38/hg38)
Size:
78,063 bases
Orientation:
Plus strand
chr4:38,869,298-38,947,365
(GRCh37/hg19)
Size:
78,068 bases
Orientation:
Plus strand

Genomic View for FAM114A1 Gene

Genes around FAM114A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM114A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM114A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM114A1 Gene

Proteins for FAM114A1 Gene

  • Protein details for FAM114A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWE2-NXP20_HUMAN
    Recommended name:
    Protein NOXP20
    Protein Accession:
    Q8IWE2
    Secondary Accessions:
    • A8K9W6
    • Q6MZV4
    • Q9BVL6

    Protein attributes for FAM114A1 Gene

    Size:
    563 amino acids
    Molecular mass:
    60742 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM114A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM114A1 Gene

Post-translational modifications for FAM114A1 Gene

  • Ubiquitination at Lys327
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FAM114A1 Gene

Domains & Families for FAM114A1 Gene

Gene Families for FAM114A1 Gene

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

Protein Domains for FAM114A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM114A1 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM114A1 (NXP20_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IWE2

UniProtKB/Swiss-Prot:

NXP20_HUMAN :
  • Belongs to the FAM114 family.
Family:
  • Belongs to the FAM114 family.
genes like me logo Genes that share domains with FAM114A1: view

Function for FAM114A1 Gene

Molecular function for FAM114A1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in neuronal cell development.

Phenotypes From GWAS Catalog for FAM114A1 Gene

Gene Ontology (GO) - Molecular Function for FAM114A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FAM114A1: view
genes like me logo Genes that share phenotypes with FAM114A1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM114A1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM114A1 Gene

Localization for FAM114A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM114A1 Gene

Cytoplasm.

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 FAM114A1 gene
Compartment Confidence
nucleus 4
cytosol 4
golgi apparatus 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Golgi apparatus (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM114A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with FAM114A1: view

Pathways & Interactions for FAM114A1 Gene

PathCards logo

SuperPathways for FAM114A1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM114A1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM114A1 Gene

Drugs & Compounds for FAM114A1 Gene

No Compound Related Data Available

Transcripts for FAM114A1 Gene

mRNA/cDNA for FAM114A1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM114A1

Alternative Splicing Database (ASD) splice patterns (SP) for FAM114A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
SP1: -
SP2:
SP3: -
SP4:
SP5:
SP6: - -
SP7:

Relevant External Links for FAM114A1 Gene

GeneLoc Exon Structure for
FAM114A1

Expression for FAM114A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM114A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM114A1 Gene

This gene is overexpressed in Bone marrow stromal cell (23.6) and Salivary gland (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM114A1 Gene



Protein tissue co-expression partners for FAM114A1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM114A1

SOURCE GeneReport for Unigene cluster for FAM114A1 Gene:

Hs.476517

Evidence on tissue expression from TISSUES for FAM114A1 Gene

  • Liver(4.4)
  • Intestine(4.3)
  • Kidney(4.3)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with FAM114A1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM114A1 Gene

Orthologs for FAM114A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM114A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM114A1 30 31
  • 99.29 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM114A1 30 31
  • 87.09 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM114A1 30 31
  • 86.13 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam114a1 30 17 31
  • 80.78 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam114a1 30
  • 79.37 (n)
Oppossum
(Monodelphis domestica)
Mammalia FAM114A1 31
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM114A1 31
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM114A1 30 31
  • 67.81 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM114A1 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101733203 30
  • 72.96 (n)
Str.18118 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33764 30
Zebrafish
(Danio rerio)
Actinopterygii fam114a1 30 31
  • 59.64 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG9590 31
  • 24 (a)
OneToMany
Species where no ortholog for FAM114A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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 Squirt (Ciona savignyi)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FAM114A1 Gene

ENSEMBL:
Gene Tree for FAM114A1 (if available)
TreeFam:
Gene Tree for FAM114A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM114A1: view image

Paralogs for FAM114A1 Gene

Paralogs for FAM114A1 Gene

(2) SIMAP similar genes for FAM114A1 Gene using alignment to 2 proteins:

  • NXP20_HUMAN
  • D6R9C9_HUMAN
genes like me logo Genes that share paralogs with FAM114A1: view

Variants for FAM114A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM114A1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs386352300 Uncertain Significance: not provided 38,908,638(+) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs11096964 - p.Gly84Arg
rs11555334 - p.Leu116Pro
rs17429619 - p.Val443Ile
rs2306923 - p.Arg367His

Additional dbSNP identifiers (rs#s) for FAM114A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM114A1 Gene

Variant ID Type Subtype PubMed ID
esv2727452 CNV deletion 23290073
nsv1114513 CNV deletion 24896259
nsv1123776 CNV deletion 24896259
nsv1128052 CNV deletion 24896259
nsv1131788 CNV deletion 24896259
nsv1131789 CNV deletion 24896259
nsv1161079 CNV duplication 26073780
nsv475302 CNV novel sequence insertion 20440878
nsv594010 CNV loss 21841781
nsv594011 CNV loss 21841781

Variation tolerance for FAM114A1 Gene

Residual Variation Intolerance Score: 73.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.42; 88.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM114A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM114A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM114A1 Gene

Disorders for FAM114A1 Gene

Additional Disease Information for FAM114A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for FAM114A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM114A1 Gene

Publications for FAM114A1 Gene

  1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for FAM114A1 Gene

Sources for FAM114A1 Gene