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

Gene ID: 120400, updated on 13-May-2022

Summary

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
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Genomic context

See NXPE1 in Genome Data Viewer
Location:
11q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (114518934..114559881, complement)
110 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 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 neurexophilin and PC-esterase domain family member 4 Neighboring gene uncharacterized LOC105369506

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

Phenotypes

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

General gene information

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

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_001367953.1NP_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
    Related
    ENSP00000512373.1, ENST00000696071.1
    Conserved Domains (1) summary
    pfam06312
    Location:122265
    Neurexophilin
  2. NM_001395504.1NP_001382433.1  NXPE family member 1 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC020549
    Related
    ENSP00000439503.2, ENST00000534921.3
    Conserved Domains (1) summary
    pfam06312
    Location:122265
    Neurexophilin
  3. NM_152315.5NP_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:3123
    Neurexophilin; Neurexophilin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011542598.4XP_011540900.1  NXPE family member 1 isoform X1

    See identical proteins and their annotated locations for XP_011540900.1

    UniProtKB/Swiss-Prot
    Q8N323
    Conserved Domains (1) summary
    pfam06312
    Location:122265
    Neurexophilin
  2. XM_047426372.1XP_047282328.1  NXPE family member 1 isoform X1

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

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

    See identical proteins and their annotated locations for XP_011540901.1

    UniProtKB/Swiss-Prot
    Q8N323
    Conserved Domains (1) summary
    pfam06312
    Location:122265
    Neurexophilin
  5. XM_011542597.4XP_011540899.1  NXPE family member 1 isoform X1

    See identical proteins and their annotated locations for XP_011540899.1

    UniProtKB/Swiss-Prot
    Q8N323
    Conserved Domains (1) summary
    pfam06312
    Location:122265
    Neurexophilin
  6. XM_011542596.4XP_011540898.1  NXPE family member 1 isoform X1

    See identical proteins and their annotated locations for XP_011540898.1

    UniProtKB/Swiss-Prot
    Q8N323
    Conserved Domains (1) summary
    pfam06312
    Location:122265
    Neurexophilin
  7. XM_047426373.1XP_047282329.1  NXPE family member 1 isoform X2

    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)