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    FAM114A1 family with sequence similarity 114 member A1 [ Homo sapiens (human) ]

    Gene ID: 92689, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM114A1provided by HGNC
    Official Full Name
    family with sequence similarity 114 member A1provided by HGNC
    Primary source
    HGNC:HGNC:25087
    See related
    Ensembl:ENSG00000197712 AllianceGenome:HGNC:25087
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Noxp20
    Summary
    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]
    Expression
    Ubiquitous expression in adrenal (RPKM 11.1), gall bladder (RPKM 9.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM114A1 in Genome Data Viewer
    Location:
    4p14
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (38867806..38945739)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (38837934..38915794)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (38869427..38947360)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79956/79957 Neighboring gene Sharpr-MPRA regulatory region 13104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21449 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_79971, experimental_79978, experimental_79983/79985 and experimental_79990 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80014/80015 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80021 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80029 Neighboring gene uncharacterized LOC124900695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21452 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80034 Neighboring gene toll like receptor 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80044 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:38858887-38860086 Neighboring gene toll like receptor 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:38869978-38870561 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80048 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80049 Neighboring gene microRNA 574 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80051 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:38989899-38990398 Neighboring gene transmembrane protein 156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:39038547-39039076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15366 Neighboring gene uncharacterized LOC105374418 Neighboring gene kelch like family member 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Noxp20 and Noxp70, two new markers of early neuronal differentiation, detected in teratocarcinoma-derived neuroectodermic precursor cells. Boucquey M, et al. J Neurochem, 2006 Oct. PMID 17029606
    2. The FAM114A proteins are adaptors for the recycling of Golgi enzymes. Welch LG, et al. J Cell Sci, 2024 Sep 1. PMID 39129673, Free PMC Article
    3. FAM114A1 influences cardiac pathological remodeling by regulating angiotensin II signaling. Subbaiah KCV, et al. JCI Insight, 2022 Jul 8. PMID 35671117, Free PMC Article
    4. Association of 4p14 TLR locus with antibodies to Helicobacter pylori. Sung H, et al. Genes Immun, 2015 Dec. PMID 26312625, Free PMC Article
    5. Identification of genetic loci associated with Helicobacter pylori serologic status. Mayerle J, et al. JAMA, 2013 May 8. PMID 23652523

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study annotated variants at 4p14 as expression quantitative trait loci (eQTL) associated with TLR6/10 and FAM114A1; findings suggest that 4p14 polymorphisms are linked to host immune response to H. pylori infection but not to its acquisition.
      Title: Association of 4p14 TLR locus with antibodies to Helicobacter pylori.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. This paper discusses the structure of the human Noxp20 gene.
      Title: Noxp20 and Noxp70, two new markers of early neuronal differentiation, detected in teratocarcinoma-derived neuroectodermic precursor cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Identification of genetic loci associated with Helicobacter pylori serologic status.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ33151

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein NOXP20
    Names
    nervous system over-expressed protein 20

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_053162.1 RefSeqGene

      Range
      5130..83063
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330764.2 → NP_001317693.1  protein NOXP20 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC108044, AI073679, CB306584, CN255669, DA130633, DA722033, HY086889
      Consensus CDS
      CCDS82916.1
      UniProtKB/TrEMBL
      B4E1Z8
      Related
      ENSP00000424115.1, ENST00000515037.5

    2. NM_001350631.2 → NP_001337560.1  protein NOXP20 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC108044
      UniProtKB/TrEMBL
      B4E1Z8
      Conserved Domains (1) summary
      pfam05334
      Location:1 → 92
      DUF719; Protein of unknown function (DUF719)

    3. NM_001350632.2 → NP_001337561.1  protein NOXP20 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC108044
      Conserved Domains (1) summary
      pfam05334
      Location:135 → 297
      DUF719; Protein of unknown function (DUF719)

    4. NM_001350633.2 → NP_001337562.1  protein NOXP20 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC108044
      UniProtKB/TrEMBL
      B4E1Z8
      Conserved Domains (1) summary
      pfam05334
      Location:11 → 172
      DUF719; Protein of unknown function (DUF719)

    5. NM_001350634.2 → NP_001337563.1  protein NOXP20 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC108044
      UniProtKB/TrEMBL
      B4DL61
      Conserved Domains (1) summary
      pfam05334
      Location:22 → 101
      DUF719; Protein of unknown function (DUF719)

    6. NM_001350635.3 → NP_001337564.1  protein NOXP20 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC108044
      Conserved Domains (1) summary
      pfam05334
      Location:135 → 299
      DUF719; Protein of unknown function (DUF719)

    7. NM_001375792.1 → NP_001362721.1  protein NOXP20 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC108044
      Consensus CDS
      CCDS3447.1
      UniProtKB/Swiss-Prot
      A8K9W6, Q6MZV4, Q8IWE2, Q9BVL6
      Conserved Domains (1) summary
      pfam05334
      Location:135 → 299
      DUF719; Protein of unknown function (DUF719)

    8. NM_001375793.1 → NP_001362722.1  protein NOXP20 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC108044
      Conserved Domains (1) summary
      pfam05334
      Location:135 → 299
      DUF719; Protein of unknown function (DUF719)

    9. NM_138389.4 → NP_612398.2  protein NOXP20 isoform 1

      See identical proteins and their annotated locations for NP_612398.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1)
      Source sequence(s)
      AC108044, AI073679, CB306584, CN255669, DA130633, DA722033, DA755915, HY086889
      Consensus CDS
      CCDS3447.1
      UniProtKB/Swiss-Prot
      A8K9W6, Q6MZV4, Q8IWE2, Q9BVL6
      Related
      ENSP00000351740.2, ENST00000358869.5
      Conserved Domains (1) summary
      pfam05334
      Location:135 → 299
      DUF719; Protein of unknown function (DUF719)

    RNA

    1. NR_033290.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two consecutive internal exons, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC108044, AK304050

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      38867806..38945739
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416412.1 → XP_047272368.1  protein NOXP20 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      38837934..38915794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351251.1 → XP_054207226.1  protein NOXP20 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IWE2.2 GenPept UniProtKB/Swiss-Prot:Q8IWE2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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