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PMFBP1 polyamine modulated factor 1 binding protein 1 [ Homo sapiens (human) ]

Gene ID: 83449, updated on 1-Jun-2020

Summary

Official Symbol
PMFBP1provided by HGNC
Official Full Name
polyamine modulated factor 1 binding protein 1provided by HGNC
Primary source
HGNC:HGNC:17728
See related
Ensembl:ENSG00000118557 MIM:618085
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
STAP; SPGF31
Expression
Biased expression in testis (RPKM 6.6), small intestine (RPKM 0.5) and 2 other tissues See more
Orthologs

Genomic context

See PMFBP1 in Genome Data Viewer
Location:
16q22.2
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (72116697..72173908, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (72152996..72206349, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene thioredoxin like 4B Neighboring gene haptoglobin-related protein Neighboring gene DEAH-box helicase 38 Neighboring gene uncharacterized LOC105371341 Neighboring gene VISTA enhancer hs22

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

Associated conditions

Description Tests
SPERMATOGENIC FAILURE 31
MedGen: C4748234 OMIM: 618112 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of polyamine modulated factor 1 binding protein 1 (PMFBP1) in peptide-treated PBMCs PubMed
Vif vif HIV-1 Vif downregulates the expression of polyamine modulated factor 1 binding protein 1 (PMFBP1) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40146, DKFZp434G131

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
spermatogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
sperm connecting piece IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
polyamine-modulated factor 1-binding protein 1
Names
PMF-1 binding protein

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_001160213.1NP_001153685.1  polyamine-modulated factor 1-binding protein 1 isoform b

    See identical proteins and their annotated locations for NP_001153685.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR, translation initiation at a downstream AUG codon, and an additional segment in the 3' coding region, compared to variant 1. The encoded protein (isoform b) is shorter than isoform a.
    Source sequence(s)
    AF239683, AK093285, AK122925, DB082449
    UniProtKB/Swiss-Prot
    Q8TBY8
    Related
    ENSP00000347854.6, ENST00000355636.10
    Conserved Domains (1) summary
    COG1196
    Location:91718
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  2. NM_031293.3NP_112583.2  polyamine-modulated factor 1-binding protein 1 isoform a

    See identical proteins and their annotated locations for NP_112583.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (a).
    Source sequence(s)
    AF239683, AK093285, AL136795, DB019901
    Consensus CDS
    CCDS32483.1
    UniProtKB/Swiss-Prot
    Q8TBY8
    Related
    ENSP00000237353.10, ENST00000237353.15
    Conserved Domains (1) summary
    COG1196
    Location:236863
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

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_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    72116697..72173908 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523361.3XP_011521663.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011521663.1

    Conserved Domains (3) summary
    COG1196
    Location:505805
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK05771
    Location:695930
    PRK05771; V-type ATP synthase subunit I; Validated
    TIGR02169
    Location:294648
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
  2. XM_011523358.3XP_011521660.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011521660.1

    Conserved Domains (3) summary
    COG1196
    Location:505805
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK05771
    Location:695930
    PRK05771; V-type ATP synthase subunit I; Validated
    TIGR02169
    Location:294648
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
  3. XM_011523357.3XP_011521659.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011521659.1

    Conserved Domains (3) summary
    COG1196
    Location:505805
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK05771
    Location:695930
    PRK05771; V-type ATP synthase subunit I; Validated
    TIGR02169
    Location:294648
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
  4. XM_011523360.3XP_011521662.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011521662.1

    Conserved Domains (3) summary
    COG1196
    Location:505805
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK05771
    Location:695930
    PRK05771; V-type ATP synthase subunit I; Validated
    TIGR02169
    Location:294648
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
  5. XM_011523362.3XP_011521664.1  polyamine-modulated factor 1-binding protein 1 isoform X2

    Conserved Domains (3) summary
    COG1196
    Location:502802
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    PRK05771
    Location:692927
    PRK05771; V-type ATP synthase subunit I; Validated
    TIGR02169
    Location:291645
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
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