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NXPE1 neurexophilin and PC-esterase domain family member 1 [ Homo sapiens (human) ]

Gene ID: 120400, updated on 5-Mar-2024

Summary

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Official Symbol
NXPE1provided by HGNC
Official Full Name
neurexophilin and PC-esterase domain family member 1provided by HGNC
Primary source
HGNC:HGNC:28527
See related
Ensembl:ENSG00000095110 AllianceGenome:HGNC:28527
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
FAM55A
Summary
Predicted to be located in extracellular region. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward colon (RPKM 27.8) See more
Orthologs
all
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Genomic context

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Location:
11q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (114518934..114559881, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (114529349..114570293, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (114389656..114430603, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene nocturnin pseudogene Neighboring gene MPRA-validated peak1476 silencer Neighboring gene neurexophilin and PC-esterase domain family member 2 Neighboring gene small nucleolar RNA U13 Neighboring gene neurexophilin and PC-esterase domain family member 2 pseudogene 1 Neighboring gene histone deacetylase 2 pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:114473708-114474907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3916 Neighboring gene neurexophilin and PC-esterase domain family member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3917 Neighboring gene uncharacterized LOC105369506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:114717517-114718016

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. The human gastrointestinal tract-specific transcriptome and proteome as defined by RNA sequencing and antibody-based profiling. Gremel G, et al. J Gastroenterol, 2015 Jan. PMID 24789573
  2. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Anderson CA, et al. Nat Genet, 2011 Mar. PMID 21297633, Free PMC Article
  3. 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
  4. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

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
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
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

General gene information

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Homology

Clone Names

  • MGC34290

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 extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
NXPE family member 1
Names
family with sequence similarity 55, member A
protein FAM55A

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_001367953.1 → NP_001354882.1  NXPE family member 1 isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC020549
    Consensus CDS
    CCDS91598.1
    UniProtKB/Swiss-Prot
    B0YJ13, Q8N323
    Related
    ENSP00000512373.1, ENST00000696071.1
    Conserved Domains (1) summary
    pfam06312
    Location:122 → 265
    Neurexophilin

  2. NM_001395504.1 → NP_001382433.1  NXPE family member 1 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC020549
    Consensus CDS
    CCDS91598.1
    UniProtKB/Swiss-Prot
    B0YJ13, Q8N323
    Related
    ENSP00000439503.2, ENST00000534921.3
    Conserved Domains (1) summary
    pfam06312
    Location:122 → 265
    Neurexophilin

  3. NM_152315.5 → NP_689528.2  NXPE family member 1 isoform 2

    See identical proteins and their annotated locations for NP_689528.2

    Status: VALIDATED

    Source sequence(s)
    AC020549, AW009077
    Consensus CDS
    CCDS8372.1
    UniProtKB/Swiss-Prot
    Q8N323
    Related
    ENSP00000251921.2, ENST00000251921.6
    Conserved Domains (1) summary
    pfam06312
    Location:3 → 123
    Neurexophilin; Neurexophilin

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
    114518934..114559881 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542598.4 → XP_011540900.1  NXPE family member 1 isoform X1

    See identical proteins and their annotated locations for XP_011540900.1

    UniProtKB/Swiss-Prot
    B0YJ13, Q8N323
    Conserved Domains (1) summary
    pfam06312
    Location:122 → 265
    Neurexophilin

  2. XM_047426372.1 → XP_047282328.1  NXPE family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B0YJ13, Q8N323

  3. XM_047426371.1 → XP_047282327.1  NXPE family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B0YJ13, Q8N323

  4. XM_011542599.4 → XP_011540901.1  NXPE family member 1 isoform X1

    See identical proteins and their annotated locations for XP_011540901.1

    UniProtKB/Swiss-Prot
    B0YJ13, Q8N323
    Conserved Domains (1) summary
    pfam06312
    Location:122 → 265
    Neurexophilin

  5. XM_011542597.4 → XP_011540899.1  NXPE family member 1 isoform X1

    See identical proteins and their annotated locations for XP_011540899.1

    UniProtKB/Swiss-Prot
    B0YJ13, Q8N323
    Conserved Domains (1) summary
    pfam06312
    Location:122 → 265
    Neurexophilin

  6. XM_011542596.4 → XP_011540898.1  NXPE family member 1 isoform X1

    See identical proteins and their annotated locations for XP_011540898.1

    UniProtKB/Swiss-Prot
    B0YJ13, Q8N323
    Conserved Domains (1) summary
    pfam06312
    Location:122 → 265
    Neurexophilin

  7. XM_047426373.1 → XP_047282329.1  NXPE family member 1 isoform X2

    UniProtKB/TrEMBL
    F5H6W7
    Related
    ENSP00000442984.1, ENST00000536312.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    114529349..114570293 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367675.1 → XP_054223650.1  NXPE family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B0YJ13, Q8N323

  2. XM_054367676.1 → XP_054223651.1  NXPE family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B0YJ13, Q8N323

  3. XM_054367674.1 → XP_054223649.1  NXPE family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B0YJ13, Q8N323

  4. XM_054367673.1 → XP_054223648.1  NXPE family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B0YJ13, Q8N323

  5. XM_054367677.1 → XP_054223652.1  NXPE family member 1 isoform X2

    UniProtKB/TrEMBL
    F5H6W7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N323.2 GenPept UniProtKB/Swiss-Prot:Q8N323

Gene LinkOut

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