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

Gene ID: 54827, updated on 5-Mar-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, Apr 2022]
Expression
Biased expression in colon (RPKM 26.5), salivary gland (RPKM 10.3) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
11q23.2-q23.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (114570591..114678250, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (114581003..114689550, complement)
105.20220307 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)

Genotypes

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

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
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_2023_10

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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