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Aliases for FAM114A1 Gene

Aliases for FAM114A1 Gene

  • Family With Sequence Similarity 114 Member A1 2 3 5
  • Family With Sequence Similarity 114, Member A1 2
  • Nervous System Over-Expressed Protein 20 3
  • Nervous System Overexpressed Protein 20 4
  • Protein FAM114A1 4
  • Protein NOXP20 3
  • Noxp20 3
  • 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. Diseases associated with FAM114A1 include Mixed Germ Cell Cancer. An important paralog of this gene is FAM114A2.

UniProtKB/Swiss-Prot for FAM114A1 Gene

  • May play a role in neuronal cell development.

Additional gene information for FAM114A1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM114A1 Gene

Genomics for FAM114A1 Gene

GeneHancer (GH) Regulatory Elements for FAM114A1 Gene

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 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 653.5 +1.3 1273 4.1 SMAD1 RB1 ARID4B DMAP1 ZBTB40 THRB ZNF48 RARA YY1 ZNF335 FAM114A1 GC04P038868 MIR574 TLR6 GC04P038912
GH04J038929 Promoter 0.5 EPDnew 650.2 +61.5 61484 0.1 FAM114A1 GC04P038912 TMEM156
GH04J039456 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.1 +590.9 590857 3.7 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 RPL9 LIAS PDS5A WDR19 ENSG00000250568 RFC1 KLF3-AS1 FAM114A1 UGDH-AS1 KLF3
GH04J038803 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12 -62.4 -62377 3.4 PKNOX1 FOXA2 SMAD1 RB1 STAT5A YBX1 ZBTB40 BATF KLF5 IRF4 TLR1 TLR10 TLR6 ZBTB12BP MIR574 FAM114A1 ENSG00000249207 ENSG00000249685 HNRNPRP3 RFC1
GH04J038855 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.3 -10.4 -10381 4 PKNOX1 SMAD1 ARNT SIN3A IRF4 ZNF766 ZNF143 ZNF207 FOS JUNB TLR6 TLR1 ZBTB12BP HNRNPRP3 FAM114A1 KLF3 KLHL5
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for FAM114A1 Gene

Genomic Locations for FAM114A1 Gene
chr4:38,867,677-38,945,744
(GRCh38/hg38)
Size:
78,068 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

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:

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

Clone Products

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 5
cytosol 5
golgi apparatus 5

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for FAM114A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
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

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

Unigene Clusters for FAM114A1 Gene

Family with sequence similarity 114, member A1:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
FAM114A1

Expression for FAM114A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of FAM114A1 Gene:

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)
genes like me logo Genes that share expression patterns with FAM114A1: view

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 34 33
  • 99.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM114A1 34 33
  • 87.09 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM114A1 34 33
  • 86.13 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam114a1 16 34 33
  • 80.78 (n)
rat
(Rattus norvegicus)
Mammalia Fam114a1 33
  • 79.37 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM114A1 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM114A1 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM114A1 34 33
  • 67.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM114A1 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733203 33
  • 72.96 (n)
Str.18118 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33764 33
zebrafish
(Danio rerio)
Actinopterygii fam114a1 34 33
  • 59.64 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9590 34
  • 24 (a)
OneToMany
Species where no ortholog for FAM114A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 from dbSNP and Humsavar for FAM114A1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs386352300 uncertain-significance, not provided 38,908,638(+) G/C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs10000037 -- 38,922,709(+) G/A intron_variant
rs1000020656 -- 38,946,183(+) C/T downstream_transcript_variant
rs1000109459 -- 38,936,074(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000110010 -- 38,870,625(+) T/G intron_variant

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

MalaCards: The human disease database

(1) MalaCards diseases for FAM114A1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mixed germ cell cancer
  • mixed germ cell neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM114A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FAM114A1: view

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

Publications for FAM114A1 Gene

  1. 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 44 58
  2. 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 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3 58

Products for FAM114A1 Gene

Sources for FAM114A1 Gene

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