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

    Gene ID: 120400, updated on 2-Nov-2024

    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 and membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward colon (RPKM 27.8) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NXPE1 in Genome Data Viewer
    Location:
    11q23.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (114518934..114559881, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (114529349..114570293, complement)
    RS_2024_09 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

    Expression

    • Project title: HPA RNA-seq normal tissues 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 protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      Consensus CDS
      CCDS91598.1
      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323
      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
      Consensus CDS
      CCDS91598.1
      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323
      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: 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
      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
      B0YJ13, Q8N323
      Conserved Domains (1) summary
      pfam06312
      Location:122265
      Neurexophilin
    2. XM_047426372.1XP_047282328.1  NXPE family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323
    3. XM_047426371.1XP_047282327.1  NXPE family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323
    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
      B0YJ13, 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
      B0YJ13, 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
      B0YJ13, Q8N323
      Conserved Domains (1) summary
      pfam06312
      Location:122265
      Neurexophilin
    7. XM_047426373.1XP_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_054367675.1XP_054223650.1  NXPE family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323
    2. XM_054367676.1XP_054223651.1  NXPE family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323
    3. XM_054367674.1XP_054223649.1  NXPE family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323
    4. XM_054367673.1XP_054223648.1  NXPE family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B0YJ13, Q8N323
    5. XM_054367677.1XP_054223652.1  NXPE family member 1 isoform X2

      UniProtKB/TrEMBL
      F5H6W7