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

Gene ID: 92689, updated on 1-Aug-2020

Summary

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
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

Genomic context

See FAM114A1 in Genome Data Viewer
Location:
4p14
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (38867806..38945739)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (38869354..38947365)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13104 Neighboring gene toll like receptor 1 Neighboring gene toll like receptor 6 Neighboring gene microRNA 574 Neighboring gene transmembrane protein 156 Neighboring gene uncharacterized LOC105374418 Neighboring gene kelch like family member 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33151

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001330764.2NP_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/Swiss-Prot
    Q8IWE2
    Related
    ENSP00000424115.1, ENST00000515037.5
  2. NM_001350631.2NP_001337560.1  protein NOXP20 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC108044
    Conserved Domains (1) summary
    pfam05334
    Location:192
    DUF719; Protein of unknown function (DUF719)
  3. NM_001350632.2NP_001337561.1  protein NOXP20 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC108044
    Conserved Domains (1) summary
    pfam05334
    Location:135297
    DUF719; Protein of unknown function (DUF719)
  4. NM_001350633.2NP_001337562.1  protein NOXP20 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC108044
    Conserved Domains (1) summary
    pfam05334
    Location:11172
    DUF719; Protein of unknown function (DUF719)
  5. NM_001350634.2NP_001337563.1  protein NOXP20 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC108044
    Conserved Domains (1) summary
    pfam05334
    Location:22101
    DUF719; Protein of unknown function (DUF719)
  6. NM_001350635.2NP_001337564.1  protein NOXP20 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC108044
    Conserved Domains (1) summary
    pfam05334
    Location:135299
    DUF719; Protein of unknown function (DUF719)
  7. NM_001375792.1NP_001362721.1  protein NOXP20 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC108044
  8. NM_001375793.1NP_001362722.1  protein NOXP20 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC108044
  9. NM_138389.4NP_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
    Q8IWE2
    UniProtKB/TrEMBL
    A0A024R9V7
    Related
    ENSP00000351740.2, ENST00000358869.5
    Conserved Domains (1) summary
    pfam05334
    Location:135299
    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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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