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    NXPE4 neurexophilin and PC-esterase domain family member 4 [ Homo sapiens (human) ]

    Gene ID: 54827, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NXPE4provided by HGNC
    Official Full Name
    neurexophilin and PC-esterase domain family member 4provided by HGNC
    Primary source
    HGNC:HGNC:23117
    See related
    Ensembl:ENSG00000137634 MIM:618133; AllianceGenome:HGNC:23117
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAM55D; C11orf33
    Summary
    Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in colon (RPKM 26.5), salivary gland (RPKM 10.3) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NXPE4 in Genome Data Viewer
    Location:
    11q23.2-q23.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (114570591..114678250, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (114581003..114689550, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (114441313..114466508, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene neurexophilin and PC-esterase domain family member 2 Neighboring gene histone deacetylase 2 pseudogene Neighboring gene neurexophilin and PC-esterase domain family member 2 pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:114473708-114474907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3917 Neighboring gene neurexophilin and PC-esterase domain family member 1 Neighboring gene uncharacterized LOC105369506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:114717517-114718016 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:114757957-114759156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:114800269-114800769 Neighboring gene NANOG hESC enhancer GRCh37_chr11:115035341-115035883 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:115079540-115080739 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:115093260-115094068 Neighboring gene cell adhesion molecule 1 Neighboring gene NANOG hESC enhancer GRCh37_chr11:115141547-115142048 Neighboring gene Sharpr-MPRA regulatory region 15022 Neighboring gene uncharacterized LOC105369509

    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. Search for epithelial-specific mRNAs in peripheral blood of patients with colon cancer by RT-PCR. Solmi R, et al. Int J Oncol, 2004 Oct. PMID 15375555
    2. Neurexophilin and PC-esterase domain family member 4 (NXPE4) and prostate androgen-regulated mucin-like protein 1 (PARM1) as prognostic biomarkers for colorectal cancer. Liu YR, et al. J Cell Biochem, 2019 Oct. PMID 31297877
    3. Novel eukaryotic enzymes modifying cell-surface biopolymers. Anantharaman V, et al. Biol Direct, 2010 Jan 7. PMID 20056006, Free PMC Article
    4. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Jostins L, et al. Nature, 2012 Nov 1. PMID 23128233, Free PMC Article
    5. Loss of TRIM31 promotes breast cancer progression through regulating K48- and K63-linked ubiquitination of p53. Guo Y, et al. Cell Death Dis, 2021 Oct 14. PMID 34650049, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Neurexophilin and PC-esterase domain family member 4 (NXPE4) and prostate androgen-regulated mucin-like protein 1 (PARM1) as prognostic biomarkers for colorectal cancer.
      Title: Neurexophilin and PC-esterase domain family member 4 (NXPE4) and prostate androgen-regulated mucin-like protein 1 (PARM1) as prognostic biomarkers for colorectal cancer.
    2. 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.
    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
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    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

    • FLJ20127

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    NXPE family member 4
    Names
    family with sequence similarity 55, member D
    protein FAM55D

    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.

    mRNA and Protein(s)

    1. NM_001077639.2 → NP_001071107.1  NXPE family member 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001071107.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC020549, AK000134, AY358805, DA428771
      Consensus CDS
      CCDS41718.1
      UniProtKB/Swiss-Prot
      Q6QDB4, Q6UWF7, Q9NXP5
      Related
      ENSP00000364627.3, ENST00000375478.4
      Conserved Domains (1) summary
      pfam06312
      Location:130 → 259
      Neurexophilin; Neurexophilin

    2. NM_017678.3 → NP_060148.2  NXPE family member 4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the 5' region which results in translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC020549, AK000134, AY358805, AY547307, DA428771
      Consensus CDS
      CCDS44737.1
      UniProtKB/Swiss-Prot
      Q6UWF7
      Related
      ENSP00000401503.2, ENST00000424261.6

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      114570591..114678250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427150.1 → XP_047283106.1  NXPE family member 4 isoform X1

      UniProtKB/Swiss-Prot
      Q6QDB4, Q6UWF7, Q9NXP5

    2. XM_047427148.1 → XP_047283104.1  NXPE family member 4 isoform X1

      UniProtKB/Swiss-Prot
      Q6QDB4, Q6UWF7, Q9NXP5

    3. XM_047427151.1 → XP_047283107.1  NXPE family member 4 isoform X1

      UniProtKB/Swiss-Prot
      Q6QDB4, Q6UWF7, Q9NXP5

    4. XM_047427149.1 → XP_047283105.1  NXPE family member 4 isoform X1

      UniProtKB/Swiss-Prot
      Q6QDB4, Q6UWF7, Q9NXP5

    5. XM_047427147.1 → XP_047283103.1  NXPE family member 4 isoform X1

      UniProtKB/Swiss-Prot
      Q6QDB4, Q6UWF7, Q9NXP5

    6. XM_047427152.1 → XP_047283108.1  NXPE family member 4 isoform X1

      UniProtKB/Swiss-Prot
      Q6QDB4, Q6UWF7, Q9NXP5

    7. XM_011542881.3 → XP_011541183.1  NXPE family member 4 isoform X1

      See identical proteins and their annotated locations for XP_011541183.1

      UniProtKB/Swiss-Prot
      Q6QDB4, Q6UWF7, Q9NXP5
      Conserved Domains (1) summary
      pfam06312
      Location:130 → 259
      Neurexophilin; Neurexophilin

    8. XM_011542882.3 → XP_011541184.1  NXPE family member 4 isoform X2

      Conserved Domains (1) summary
      pfam06312
      Location:130 → 259
      Neurexophilin; Neurexophilin

    9. XM_006718865.4 → XP_006718928.1  NXPE family member 4 isoform X4

      Conserved Domains (1) summary
      pfam06312
      Location:130 → 259
      Neurexophilin; Neurexophilin

    10. XM_011542883.3 → XP_011541185.1  NXPE family member 4 isoform X3

      Conserved Domains (1) summary
      pfam06312
      Location:130 → 259
      Neurexophilin; Neurexophilin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      114581003..114689550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369183.1 → XP_054225158.1  NXPE family member 4 isoform X1

      UniProtKB/Swiss-Prot
      Q6QDB4, Q6UWF7, Q9NXP5

    2. XM_054369184.1 → XP_054225159.1  NXPE family member 4 isoform X1

      UniProtKB/Swiss-Prot
      Q6QDB4, Q6UWF7, Q9NXP5

    3. XM_054369182.1 → XP_054225157.1  NXPE family member 4 isoform X1

      UniProtKB/Swiss-Prot
      Q6QDB4, Q6UWF7, Q9NXP5

    4. XM_054369181.1 → XP_054225156.1  NXPE family member 4 isoform X1

      UniProtKB/Swiss-Prot
      Q6QDB4, Q6UWF7, Q9NXP5

    5. XM_054369185.1 → XP_054225160.1  NXPE family member 4 isoform X1

      UniProtKB/Swiss-Prot
      Q6QDB4, Q6UWF7, Q9NXP5

    6. XM_054369186.1 → XP_054225161.1  NXPE family member 4 isoform X1

      UniProtKB/Swiss-Prot
      Q6QDB4, Q6UWF7, Q9NXP5

    7. XM_054369187.1 → XP_054225162.1  NXPE family member 4 isoform X2

    8. XM_054369189.1 → XP_054225164.1  NXPE family member 4 isoform X4

    9. XM_054369188.1 → XP_054225163.1  NXPE family member 4 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWF7.1 GenPept UniProtKB/Swiss-Prot:Q6UWF7

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