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PMF1 polyamine modulated factor 1 [ Homo sapiens (human) ]

Gene ID: 11243, updated on 17-Jun-2019

Summary

Official Symbol
PMF1provided by HGNC
Official Full Name
polyamine modulated factor 1provided by HGNC
Primary source
HGNC:HGNC:9112
See related
Ensembl:ENSG00000160783 MIM:609176
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
Expression
Ubiquitous expression in bone marrow (RPKM 21.9), thyroid (RPKM 21.3) and 25 other tissues See more
Orthologs

Genomic context

See PMF1 in Genome Data Viewer
Location:
1q22
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (156212988..156240077)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156182779..156209868)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene semaphorin 4A Neighboring gene solute carrier family 25 member 44 Neighboring gene PMF1-BGLAP readthrough Neighboring gene BGLAP promoter region Neighboring gene bone gamma-carboxyglutamate protein Neighboring gene progestin and adipoQ receptor family member 6

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough PMF1-BGLAP

Readthrough gene: PMF1-BGLAP, Included gene: BGLAP

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
leucine zipper domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
MIS12/MIND type complex IDA
Inferred from Direct Assay
more info
PubMed 
condensed chromosome kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear MIS12/MIND complex IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
transcription factor complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
polyamine-modulated factor 1
Names
Est1p-like protein B (EST1B)

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.

mRNA and Protein(s)

  1. NM_001199653.1NP_001186582.1  polyamine-modulated factor 1 isoform 3

    See identical proteins and their annotated locations for NP_001186582.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon but includes another in-frame exon in the 5' coding region, and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK124646, AK289490, AL135927, DC310420
    Consensus CDS
    CCDS55649.1
    UniProtKB/Swiss-Prot
    Q6P1K2
    Related
    ENSP00000357262.3, ENST00000368279.7
    Conserved Domains (1) summary
    pfam03980
    Location:71127
    Nnf1; Nnf1
  2. NM_001199654.1NP_001186583.1  polyamine-modulated factor 1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK289490, AL135927, DC310420, DT220098
    Consensus CDS
    CCDS55648.1
    UniProtKB/Swiss-Prot
    Q6P1K2
    Related
    ENSP00000357256.4, ENST00000368273.8
    Conserved Domains (1) summary
    pfam03980
    Location:91171
    Nnf1; Nnf1
  3. NM_007221.3NP_009152.2  polyamine-modulated factor 1 isoform 2

    See identical proteins and their annotated locations for NP_009152.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon but includes another in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AK289490, AK290260, AL135927, DC310420
    Consensus CDS
    CCDS30886.1
    UniProtKB/Swiss-Prot
    Q6P1K2
    Related
    ENSP00000357260.3, ENST00000368277.3
    Conserved Domains (1) summary
    pfam03980
    Location:71169
    Nnf1; Nnf1

RefSeqs of Annotated Genomes: Homo sapiens 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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    156212988..156240077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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