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PCNX1 pecanex 1 [ Homo sapiens (human) ]

Gene ID: 22990, updated on 1-Jun-2020

Summary

Official Symbol
PCNX1provided by HGNC
Official Full Name
pecanex 1provided by HGNC
Primary source
HGNC:HGNC:19740
See related
Ensembl:ENSG00000100731 MIM:617655
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PCNX; PCNXL1; pecanex
Summary
This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]
Expression
Ubiquitous expression in testis (RPKM 10.7), adrenal (RPKM 10.7) and 25 other tissues See more
Orthologs

Genomic context

See PCNX1 in Genome Data Viewer
Location:
14q24.2
Exon count:
38
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (70907443..71115382)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (71374122..71582099)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11364/13366 Neighboring gene transmembrane protein 183A pseudogene Neighboring gene uncharacterized LOC105370557 Neighboring gene general transcription factor IIIA pseudogene 2 Neighboring gene pituitary tumor-transforming 4 pseudogene Neighboring gene uncharacterized LOC107984695 Neighboring gene uncharacterized LOC105370706

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
NHGRI GWA Catalog
Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.
NHGRI GWA Catalog
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23409, FLJ45663, KIAA0805, KIAA0995

Gene Ontology Provided by GOA

Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pecanex-like protein 1
Names
pecanex homolog 1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_051070.1 RefSeqGene

    Range
    5055..212978
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308160.2NP_001295089.1  pecanex-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001295089.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons and uses an alternate in-frame splice site compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AB023212, AC004817, AW976844, BC140784, BE503620, BI518749, BM973139, DB287279
    Consensus CDS
    CCDS76695.1
    UniProtKB/Swiss-Prot
    Q96RV3
    Related
    ENSP00000396617.3, ENST00000439984.7
    Conserved Domains (3) summary
    pfam05041
    Location:16711896
    Pecanex_C; Pecanex protein (C-terminus)
    pfam12730
    Location:9211168
    ABC2_membrane_4; ABC-2 family transporter protein
    cl11542
    Location:12881413
    EcsB; Bacterial ABC transporter protein EcsB
  2. NM_014982.3NP_055797.2  pecanex-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_055797.2

    Status: REVIEWED

    Description
    Transcript Variant: This transcript represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC004817, AC004825, AC005230, AF233450, AK027062, AW137672
    Consensus CDS
    CCDS9806.1
    UniProtKB/Swiss-Prot
    Q96RV3
    Related
    ENSP00000304192.2, ENST00000304743.7
    Conserved Domains (3) summary
    pfam05041
    Location:17822007
    Pecanex_C; Pecanex protein (C-terminus)
    pfam12730
    Location:10321279
    ABC2_membrane_4; ABC-2 family transporter protein
    cl11542
    Location:13991524
    EcsB; Bacterial ABC transporter protein EcsB

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    70907443..71115382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267420.4XP_005267477.1  pecanex-like protein 1 isoform X1

    Conserved Domains (3) summary
    pfam05041
    Location:17902015
    Pecanex_C; Pecanex protein (C-terminus)
    pfam12730
    Location:10321279
    ABC2_membrane_4; ABC-2 family transporter protein
    cl11542
    Location:14071532
    EcsB; Bacterial ABC transporter protein EcsB
  2. XM_005267422.4XP_005267479.1  pecanex-like protein 1 isoform X3

    Conserved Domains (3) summary
    pfam05041
    Location:17852010
    Pecanex_C; Pecanex protein (C-terminus)
    pfam12730
    Location:10271274
    ABC2_membrane_4; ABC-2 family transporter protein
    cl11542
    Location:14021527
    EcsB; Bacterial ABC transporter protein EcsB
  3. XM_005267423.4XP_005267480.1  pecanex-like protein 1 isoform X4

    Conserved Domains (3) summary
    pfam05041
    Location:17772002
    Pecanex_C; Pecanex protein (C-terminus)
    pfam12730
    Location:10271274
    ABC2_membrane_4; ABC-2 family transporter protein
    cl11542
    Location:13941519
    EcsB; Bacterial ABC transporter protein EcsB
  4. XM_005267421.4XP_005267478.1  pecanex-like protein 1 isoform X2

    Conserved Domains (3) summary
    pfam05041
    Location:17892014
    Pecanex_C; Pecanex protein (C-terminus)
    pfam12730
    Location:10311278
    ABC2_membrane_4; ABC-2 family transporter protein
    cl11542
    Location:14061531
    EcsB; Bacterial ABC transporter protein EcsB
  5. XM_005267425.4XP_005267482.1  pecanex-like protein 1 isoform X6

    Conserved Domains (3) summary
    pfam05041
    Location:16841909
    Pecanex_C; Pecanex protein (C-terminus)
    pfam12730
    Location:9261173
    ABC2_membrane_4; ABC-2 family transporter protein
    cl11542
    Location:13011426
    EcsB; Bacterial ABC transporter protein EcsB
  6. XM_017021096.1XP_016876585.1  pecanex-like protein 1 isoform X7

  7. XM_005267427.4XP_005267484.1  pecanex-like protein 1 isoform X8

    Conserved Domains (2) summary
    COG1266
    Location:9901226
    YdiL; Membrane protease YdiL, CAAX protease family [Posttranslational modification, protein turnover, chaperones]
    pfam12730
    Location:10321279
    ABC2_membrane_4; ABC-2 family transporter protein
  8. XM_005267424.3XP_005267481.2  pecanex-like protein 1 isoform X5

    Conserved Domains (3) summary
    pfam05041
    Location:17531978
    Pecanex_C; Pecanex protein (C-terminus)
    pfam12730
    Location:9951242
    ABC2_membrane_4; ABC-2 family transporter protein
    cl11542
    Location:13701495
    EcsB; Bacterial ABC transporter protein EcsB
  9. XM_024449513.1XP_024305281.1  pecanex-like protein 1 isoform X9

    Conserved Domains (1) summary
    pfam05041
    Location:9001125
    Pecanex_C; Pecanex protein (C-terminus)
  10. XM_017021097.1XP_016876586.1  pecanex-like protein 1 isoform X11

    Conserved Domains (1) summary
    pfam05041
    Location:8621087
    Pecanex_C; Pecanex protein (C-terminus)
  11. XM_006720082.3XP_006720145.1  pecanex-like protein 1 isoform X10

    Related
    ENSP00000451016.1, ENST00000554691.5
    Conserved Domains (1) summary
    pfam05041
    Location:8641089
    Pecanex_C; Pecanex protein (C-terminus)

RNA

  1. XR_245672.4 RNA Sequence

  2. XR_245673.4 RNA Sequence

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