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

Gene ID: 92689, updated on 2-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
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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 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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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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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

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