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

Gene ID: 83449, updated on 18-Sep-2024

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; AllianceGenome:HGNC:17728
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
Summary
Involved in spermatogenesis. Located in sperm connecting piece. Implicated in spermatogenic failure 31. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 6.6), small intestine (RPKM 0.5) and 2 other tissues See more
Orthologs
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Genomic context

See PMFBP1 in Genome Data Viewer
Location:
16q22.2
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (72116657..72249949, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77931754..78066251, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (72152996..72206369, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:72132901-72133401 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:72141414-72142613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11093 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:72159455-72159956 Neighboring gene NANOG hESC enhancer GRCh37_chr16:72162293-72163093 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:72163923-72164424 Neighboring gene thioredoxin like 4B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:72171124-72171624 Neighboring gene haptoglobin-related protein Neighboring gene DEAH-box helicase 38 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11095 Neighboring gene uncharacterized LOC105371341 Neighboring gene VISTA enhancer hs22 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:72257113-72258312 Neighboring gene uncharacterized LOC124903720 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr16:72319061-72319706 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:72324412-72325611 Neighboring gene MYC binding protein pseudogene Neighboring gene long intergenic non-protein coding RNA 1572 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_44023 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_44041 Neighboring gene VISTA enhancer hs108 Neighboring gene uncharacterized LOC124903812

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spermatogenic failure 31
MedGen: C4748234 OMIM: 618112 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS 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

Clone Names

  • FLJ40146, DKFZp434G131

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization IEA
Inferred from Electronic Annotation
more info
 
involved_in protein-containing complex assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of protein localization IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatid development IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in spermatogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in sperm flagellum IEA
Inferred from Electronic Annotation
more info
 
located_in sperm head IEA
Inferred from Electronic Annotation
more info
 
is_active_in sperm head-tail coupling apparatus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in sperm head-tail coupling apparatus 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)

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_001160213.2NP_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)
    AC004682, AF239683, AK093285, AK122925, DB082449
    UniProtKB/TrEMBL
    B2RCA2
    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
    B3KVI9, G3V1Q7, H7BY07, Q8NA09, Q8TBY8, Q9BY16, Q9H0H4
    UniProtKB/TrEMBL
    B2RCA2
    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: 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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    72116657..72249949 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434734.1XP_047290690.1  polyamine-modulated factor 1-binding protein 1 isoform X3

    UniProtKB/TrEMBL
    B2RCA2
  2. XM_011523361.4XP_011521663.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011521663.1

    UniProtKB/TrEMBL
    B2RCA2
    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_011523358.4XP_011521660.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011521660.1

    UniProtKB/TrEMBL
    B2RCA2
    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_011523357.4XP_011521659.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011521659.1

    UniProtKB/TrEMBL
    B2RCA2
    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_011523360.4XP_011521662.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011521662.1

    UniProtKB/TrEMBL
    B2RCA2
    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
  6. XM_011523362.4XP_011521664.1  polyamine-modulated factor 1-binding protein 1 isoform X2

    UniProtKB/TrEMBL
    B2RCA2
    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
  7. XM_047434735.1XP_047290691.1  polyamine-modulated factor 1-binding protein 1 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    77931754..78066251 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314089.1XP_054170064.1  polyamine-modulated factor 1-binding protein 1 isoform X3

    UniProtKB/TrEMBL
    B2RCA2
  2. XM_054314087.1XP_054170062.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    UniProtKB/TrEMBL
    B2RCA2
  3. XM_054314085.1XP_054170060.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    UniProtKB/TrEMBL
    B2RCA2
  4. XM_054314084.1XP_054170059.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    UniProtKB/TrEMBL
    B2RCA2
  5. XM_054314086.1XP_054170061.1  polyamine-modulated factor 1-binding protein 1 isoform X1

    UniProtKB/TrEMBL
    B2RCA2
  6. XM_054314088.1XP_054170063.1  polyamine-modulated factor 1-binding protein 1 isoform X2

    UniProtKB/TrEMBL
    B2RCA2
  7. XM_054314090.1XP_054170065.1  polyamine-modulated factor 1-binding protein 1 isoform X4