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Entry version 120 (17 Jun 2020)
Sequence version 3 (08 May 2019)
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Protein

Polyamine-modulated factor 1-binding protein 1

Gene

PMFBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Required for normal spermatogenesis (PubMed:1770140, PubMed:30032984, PubMed:30298696). It functions as a scaffold protein that attaches the sperm head-tail connecting piece to the nuclear envelope, thus maintaining sperm head and tail integrity (PubMed:30032984). May also be involved in the general organization of cellular cytoskeleton (By similarity).By similarity3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Polyamine-modulated factor 1-binding protein 1
Short name:
PMF-1-binding protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PMFBP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000118557.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17728 PMFBP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
618085 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TBY8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell projection, Cilium, Flagellum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spermatogenic failure 31 (SPGF31)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligozoospermia with a high proportion of acephalic sperm.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081140109 – 1007Missing in SPGF31. 1 PublicationAdd BLAST899
Natural variantiVAR_081141488 – 1007Missing in SPGF31. 1 PublicationAdd BLAST520
Natural variantiVAR_081142802 – 1007Missing in SPGF31. 1 PublicationAdd BLAST206
Natural variantiVAR_081143909 – 1007Missing in SPGF31. 1 PublicationAdd BLAST99

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
83449

MalaCards human disease database

More...
MalaCardsi
PMFBP1
MIMi618112 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000118557

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
529970 Male infertility due to acephalic spermatozoa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38464

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TBY8 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PMFBP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74751395

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003046191 – 1007Polyamine-modulated factor 1-binding protein 1Add BLAST1007

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8TBY8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8TBY8

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8TBY8

PeptideAtlas

More...
PeptideAtlasi
Q8TBY8

PRoteomics IDEntifications database

More...
PRIDEi
Q8TBY8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
32408
43462
74048 [Q8TBY8-1]
74049 [Q8TBY8-2]
74050 [Q8TBY8-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TBY8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8TBY8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000118557 Expressed in sperm and 92 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8TBY8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8TBY8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000118557 Group enriched (epididymis, testis)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
123651, 3 interactors

Protein interaction database and analysis system

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IntActi
Q8TBY8, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000237353

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8TBY8 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8TBY8

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili76 – 103Sequence analysisAdd BLAST28
Coiled coili157 – 203Sequence analysisAdd BLAST47
Coiled coili322 – 717Sequence analysisAdd BLAST396
Coiled coili759 – 793Sequence analysisAdd BLAST35
Coiled coili829 – 863Sequence analysisAdd BLAST35
Coiled coili922 – 956Sequence analysisAdd BLAST35

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IV92 Eukaryota
ENOG4112C9M LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000012700

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_012841_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8TBY8

KEGG Orthology (KO)

More...
KOi
K23223

Identification of Orthologs from Complete Genome Data

More...
OMAi
ENKGDHP

Database of Orthologous Groups

More...
OrthoDBi
291625at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TBY8

TreeFam database of animal gene trees

More...
TreeFami
TF336266

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR037391 PMF1-bd

The PANTHER Classification System

More...
PANTHERi
PTHR18881 PTHR18881, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: Q8TBY8-2) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKDEAGERDR EVSSLNSKLL SLQLDIKNLH DVCKRQRKTL QDNQLCMEEA
60 70 80 90 100
MNSSHDKKQA QALAFEESEV EFGSSKQCHL RQLQQLKKKL LVLQQELEFH
110 120 130 140 150
TEELQTSYYS LRQYQSILEK QTSDLVLLHH HCKLKEDEVI LYEEEMGNHN
160 170 180 190 200
ENTGEKLHLA QEQLALAGDK IASLERSLNL YRDKYQSSLS NIELLECQVK
210 220 230 240 250
MLQGELGGIM GQEPENKGDH SKVRIYTSPC MIQEHQETQK RLSEVWQKVS
260 270 280 290 300
QQDDLIQELR NKLACSNALV LEREKALIKL QADFASCTAT HRYPPSSSEE
310 320 330 340 350
CEDIKKILKH LQEQKDSQCL HVEEYQNLVK DLRVELEAVS EQKRNIMKDM
360 370 380 390 400
MKLELDLHGL REETSAHIER KDKDITILQC RLQELQLEFT ETQKLTLKKD
410 420 430 440 450
KFLQEKDEML QELEKKLTQV QNSLLKKEKE LEKQQCMATE LEMTVKEAKQ
460 470 480 490 500
DKSKEAECKA LQAEVQKLKN SLEEAKQQER LAAQQAAQCK EEAALAGCHL
510 520 530 540 550
EDTQRKLQKG LLLDKQKADT IQELQRELQM LQKESSMAEK EQTSNRKRVE
560 570 580 590 600
ELSLELSEAL RKLENSDKEK RQLQKTVAEQ DMKMNDMLDR IKHQHREQGS
610 620 630 640 650
IKCKLEEDLQ EATKLLEDKR EQLKKSKEHE KLMEGELEAL RQEFKKKDKT
660 670 680 690 700
LKENSRKLEE ENENLRAELQ CCSTQLESSL NKYNTSQQVI QDLNKEIALQ
710 720 730 740 750
KESLMSLQAQ LDKALQKEKH YLQTTITKEA YDALSRKSAA CQDDLTQALE
760 770 780 790 800
KLNHVTSETK SLQQSLTQTQ EKKAQLEEEI IAYEERMKKL NTELRKLRGF
810 820 830 840 850
HQESELEVHA FDKKLEEMSC QVLQWQKQHQ NDLKMLAAKE EQLREFQEEM
860 870 880 890 900
AALKENLLED DKEPCCLPQW SVPKDTCRLY RGNDQIMTNL EQWAKQQKVA
910 920 930 940 950
NEKLGNQLRE QVKYIAKLSG EKDHLHSVMV HLQQENKKLK KEIEEKKMKA
960 970 980 990 1000
ENTRLCTKAL GPSRTESTQR EKVCGTLGWK GLPQDMGQRM DLTKYIGMPH

CPGSSYC
Length:1,007
Mass (Da):117,494
Last modified:May 8, 2019 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i98C51191F9C3252D
GO
Isoform 1 (identifier: Q8TBY8-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     481-481: L → LAGEAP
     1004-1007: SSYC → TSAICQKNKCDFFL

Show »
Length:1,022
Mass (Da):119,079
Checksum:iFCC3021294E55205
GO
Isoform 3 (identifier: Q8TBY8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     509-718: Missing.

Show »
Length:797
Mass (Da):92,730
Checksum:i424FB37CD93BE805
GO
Isoform 4 (identifier: Q8TBY8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-145: Missing.
     923-923: D → DREPTRASSPNTTRPSSPSHS

Show »
Length:882
Mass (Da):102,500
Checksum:i6100FF9DD7C854C4
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YFP6H0YFP6_HUMAN
Polyamine-modulated factor 1-bindin...
PMFBP1
502Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H4F8F5H4F8_HUMAN
Polyamine-modulated factor 1-bindin...
PMFBP1
156Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H5J2F5H5J2_HUMAN
Polyamine-modulated factor 1-bindin...
PMFBP1
116Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GXW3F5GXW3_HUMAN
Polyamine-modulated factor 1-bindin...
PMFBP1
110Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H0H9F5H0H9_HUMAN
Polyamine-modulated factor 1-bindin...
PMFBP1
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GYR2F5GYR2_HUMAN
Polyamine-modulated factor 1-bindin...
PMFBP1
47Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W771F8W771_HUMAN
Polyamine-modulated factor 1-bindin...
PMFBP1
101Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAK15456 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti238T → A in BAC04121 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081140109 – 1007Missing in SPGF31. 1 PublicationAdd BLAST899
Natural variantiVAR_035042172A → T. Corresponds to variant dbSNP:rs217180Ensembl.1
Natural variantiVAR_035043193E → K. Corresponds to variant dbSNP:rs35370634Ensembl.1
Natural variantiVAR_035044381R → L. Corresponds to variant dbSNP:rs35781168Ensembl.1
Natural variantiVAR_081141488 – 1007Missing in SPGF31. 1 PublicationAdd BLAST520
Natural variantiVAR_035045645K → T. Corresponds to variant dbSNP:rs34832584Ensembl.1
Natural variantiVAR_056974650T → K. Corresponds to variant dbSNP:rs34832584Ensembl.1
Natural variantiVAR_081142802 – 1007Missing in SPGF31. 1 PublicationAdd BLAST206
Natural variantiVAR_081143909 – 1007Missing in SPGF31. 1 PublicationAdd BLAST99
Natural variantiVAR_069056913K → N2 PublicationsCorresponds to variant dbSNP:rs16973716Ensembl.1
Isoform 1 (identifier: Q8TBY8-1)
Natural variantiVAR_0828861013C → GCuratedCorresponds to variant dbSNP:rs7513351Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0601041 – 145Missing in isoform 4. Add BLAST145
Alternative sequenceiVSP_060105481L → LAGEAP in isoform 1. 1
Alternative sequenceiVSP_060106509 – 718Missing in isoform 3. Add BLAST210
Alternative sequenceiVSP_060107923D → DREPTRASSPNTTRPSSPSH S in isoform 4. 1
Alternative sequenceiVSP_0601081004 – 1007SSYC → TSAICQKNKCDFFL in isoform 1. 4

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AL136795 mRNA Translation: CAB66729.1
AK093285 mRNA Translation: BAC04121.1
AK122925 mRNA Translation: BAG53801.1
AC004682 Genomic DNA No translation available.
AC009087 Genomic DNA No translation available.
CH471166 Genomic DNA Translation: EAW59178.1
CH471166 Genomic DNA Translation: EAW59176.1
BC028423 mRNA Translation: AAH28423.1
AF239683 mRNA Translation: AAK15456.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32483.1 [Q8TBY8-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001153685.1, NM_001160213.1 [Q8TBY8-4]
NP_112583.2, NM_031293.2 [Q8TBY8-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000237353; ENSP00000237353; ENSG00000118557 [Q8TBY8-2]
ENST00000355636; ENSP00000347854; ENSG00000118557 [Q8TBY8-4]
ENST00000537465; ENSP00000443817; ENSG00000118557 [Q8TBY8-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
83449

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:83449

UCSC genome browser

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UCSCi
uc002fcc.5 human
uc002fcd.4 human [Q8TBY8-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136795 mRNA Translation: CAB66729.1
AK093285 mRNA Translation: BAC04121.1
AK122925 mRNA Translation: BAG53801.1
AC004682 Genomic DNA No translation available.
AC009087 Genomic DNA No translation available.
CH471166 Genomic DNA Translation: EAW59178.1
CH471166 Genomic DNA Translation: EAW59176.1
BC028423 mRNA Translation: AAH28423.1
AF239683 mRNA Translation: AAK15456.1 Different initiation.
CCDSiCCDS32483.1 [Q8TBY8-2]
RefSeqiNP_001153685.1, NM_001160213.1 [Q8TBY8-4]
NP_112583.2, NM_031293.2 [Q8TBY8-2]

3D structure databases

SMRiQ8TBY8
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi123651, 3 interactors
IntActiQ8TBY8, 5 interactors
STRINGi9606.ENSP00000237353

PTM databases

iPTMnetiQ8TBY8
PhosphoSitePlusiQ8TBY8

Polymorphism and mutation databases

BioMutaiPMFBP1
DMDMi74751395

Proteomic databases

jPOSTiQ8TBY8
MassIVEiQ8TBY8
PaxDbiQ8TBY8
PeptideAtlasiQ8TBY8
PRIDEiQ8TBY8
ProteomicsDBi32408
43462
74048 [Q8TBY8-1]
74049 [Q8TBY8-2]
74050 [Q8TBY8-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
1776 87 antibodies

The DNASU plasmid repository

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DNASUi
83449

Genome annotation databases

EnsembliENST00000237353; ENSP00000237353; ENSG00000118557 [Q8TBY8-2]
ENST00000355636; ENSP00000347854; ENSG00000118557 [Q8TBY8-4]
ENST00000537465; ENSP00000443817; ENSG00000118557 [Q8TBY8-1]
GeneIDi83449
KEGGihsa:83449
UCSCiuc002fcc.5 human
uc002fcd.4 human [Q8TBY8-2]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
83449
DisGeNETi83449
EuPathDBiHostDB:ENSG00000118557.15

GeneCards: human genes, protein and diseases

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GeneCardsi
PMFBP1
HGNCiHGNC:17728 PMFBP1
HPAiENSG00000118557 Group enriched (epididymis, testis)
MalaCardsiPMFBP1
MIMi618085 gene
618112 phenotype
neXtProtiNX_Q8TBY8
OpenTargetsiENSG00000118557
Orphaneti529970 Male infertility due to acephalic spermatozoa
PharmGKBiPA38464

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IV92 Eukaryota
ENOG4112C9M LUCA
GeneTreeiENSGT00390000012700
HOGENOMiCLU_012841_0_0_1
InParanoidiQ8TBY8
KOiK23223
OMAiENKGDHP
OrthoDBi291625at2759
PhylomeDBiQ8TBY8
TreeFamiTF336266

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
83449 1 hit in 787 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PMFBP1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PMFBP1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
83449
PharosiQ8TBY8 Tdark

Protein Ontology

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PROi
PR:Q8TBY8
RNActiQ8TBY8 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000118557 Expressed in sperm and 92 other tissues
ExpressionAtlasiQ8TBY8 baseline and differential
GenevisibleiQ8TBY8 HS

Family and domain databases

InterProiView protein in InterPro
IPR037391 PMF1-bd
PANTHERiPTHR18881 PTHR18881, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPMFBP_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TBY8
Secondary accession number(s): B3KVI9
, G3V1Q7, H7BY07, Q8NA09, Q9BY16, Q9H0H4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 8, 2019
Last modified: June 17, 2020
This is version 120 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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