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PMF1-BGLAP PMF1-BGLAP readthrough [ Homo sapiens (human) ]

Gene ID: 100527963, updated on 5-Jan-2022

Summary

Official Symbol
PMF1-BGLAPprovided by HGNC
Official Full Name
PMF1-BGLAP readthroughprovided by HGNC
Primary source
HGNC:HGNC:42953
See related
Ensembl:ENSG00000260238
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
PMF1; PMF-1
Summary
This locus represents naturally occurring read-through transcription between the neighboring PMF1 (polyamine-modulated factor 1) and BGLAP (bone gamma-carboxyglutamate Gla protein) genes on chromosome 1. Alternative splicing results in multiple transcript variants encoding isoforms that share sequence identity with the upstream gene product, but they contain distinct C-termini due to frameshifts versus the downstream gene coding sequence. [provided by RefSeq, Dec 2010]
Expression
Ubiquitous expression in thyroid (RPKM 18.8), bone marrow (RPKM 17.3) and 25 other tissues See more
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Genomic context

See PMF1-BGLAP in Genome Data Viewer
Location:
1q22
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (156212988..156243332)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156182779..156213123)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene semaphorin 4A Neighboring gene solute carrier family 25 member 44 Neighboring gene polyamine modulated factor 1 Neighboring gene BGLAP promoter region Neighboring gene Sharpr-MPRA regulatory region 3040 Neighboring gene bone gamma-carboxyglutamate protein Neighboring gene progestin and adipoQ receptor family member 6 Neighboring gene SMG5 nonsense mediated mRNA decay factor Neighboring gene Sharpr-MPRA regulatory regions 9834 and 13552 Neighboring gene transmembrane protein 79

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
Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough PMF1-BGLAP

Included genes: BGLAP, PMF1

Homology

Clone Names

  • FLJ12287

General protein information

Preferred Names
PMF1-BGLAP protein
Names
polyamine-modulated factor 1

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_001199661.1NP_001186590.1  PMF1-BGLAP protein isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL135927, CD388852
    UniProtKB/Swiss-Prot
    Q6P1K2
    Related
    ENSP00000357259.4, ENST00000368276.8
    Conserved Domains (1) summary
    pfam03980
    Location:71127
    Nnf1; Nnf1
  2. NM_001199662.1NP_001186591.1  PMF1-BGLAP protein isoform 2

    See identical proteins and their annotated locations for NP_001186591.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL135927, CD049192
    UniProtKB/TrEMBL
    U3KQ54
    Related
    ENSP00000475561.1, ENST00000490491.5
    Conserved Domains (1) summary
    pfam03980
    Location:71169
    Nnf1; Nnf1
  3. NM_001199663.1NP_001186592.1  PMF1-BGLAP protein isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
    Source sequence(s)
    AL135927, BC033656
    UniProtKB/Swiss-Prot
    Q6P1K2
    Related
    ENSP00000324909.5, ENST00000320139.5
    Conserved Domains (1) summary
    pfam03980
    Location:71128
    Nnf1; Nnf1
  4. NM_001199664.1NP_001186593.1  PMF1-BGLAP protein isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two exons in the central region and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL135927, FY213424
    UniProtKB/TrEMBL
    A0A087WT04
    Related
    ENSP00000458021.2, ENST00000567140.3
    Conserved Domains (1) summary
    pfam03980
    Location:59100
    Nnf1; Nnf1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    156212988..156243332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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