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Protein

Polyamine-modulated factor 1-binding protein 1

Gene

PMFBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

May play a role in sperm morphology especially the sperm tail and consequently affect fertility. May also be involved in the general organization of cellular cytoskeleton.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Polyamine-modulated factor 1-binding protein 1
Short name:
PMF-1-binding protein
Gene namesi
Name:PMFBP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000118557.15
HGNCiHGNC:17728 PMFBP1
MIMi618085 gene
neXtProtiNX_Q8TBY8

Subcellular locationi

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000118557
PharmGKBiPA38464

Polymorphism and mutation databases

BioMutaiPMFBP1
DMDMi74751395

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003046191 – 1022Polyamine-modulated factor 1-binding protein 1Add BLAST1022

Proteomic databases

PaxDbiQ8TBY8
PeptideAtlasiQ8TBY8
PRIDEiQ8TBY8
ProteomicsDBi74048
74049 [Q8TBY8-2]
74050 [Q8TBY8-3]

PTM databases

iPTMnetiQ8TBY8
PhosphoSitePlusiQ8TBY8

Expressioni

Gene expression databases

BgeeiENSG00000118557 Expressed in 93 organ(s), highest expression level in sperm
CleanExiHS_PMFBP1
ExpressionAtlasiQ8TBY8 baseline and differential
GenevisibleiQ8TBY8 HS

Organism-specific databases

HPAiHPA056716

Interactioni

Protein-protein interaction databases

BioGridi123651, 3 interactors
IntActiQ8TBY8, 3 interactors

Structurei

3D structure databases

ProteinModelPortaliQ8TBY8
SMRiQ8TBY8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili9 – 42Sequence analysisAdd BLAST34
Coiled coili75 – 107Sequence analysisAdd BLAST33
Coiled coili155 – 206Sequence analysisAdd BLAST52
Coiled coili296 – 485Sequence analysisAdd BLAST190
Coiled coili518 – 726Sequence analysisAdd BLAST209
Coiled coili761 – 868Sequence analysisAdd BLAST108
Coiled coili926 – 961Sequence analysisAdd BLAST36

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IV92 Eukaryota
ENOG4112C9M LUCA
GeneTreeiENSGT00390000012700
HOGENOMiHOG000060143
HOVERGENiHBG072641
InParanoidiQ8TBY8
OMAiQENQLCV
OrthoDBiEOG091G02GR
PhylomeDBiQ8TBY8
TreeFamiTF336266

Family and domain databases

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

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 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 1 (identifier: Q8TBY8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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 LAGEAPAAQQ AAQCKEEAAL
510 520 530 540 550
AGCHLEDTQR KLQKGLLLDK QKADTIQELQ RELQMLQKES SMAEKEQTSN
560 570 580 590 600
RKRVEELSLE LSEALRKLEN SDKEKRQLQK TVAEQDMKMN DMLDRIKHQH
610 620 630 640 650
REQGSIKCKL EEDLQEATKL LEDKREQLKK SKEHEKLMEG ELEALRQEFK
660 670 680 690 700
KKDKTLKENS RKLEEENENL RAELQCCSTQ LESSLNKYNT SQQVIQDLNK
710 720 730 740 750
EIALQKESLM SLQAQLDKAL QKEKHYLQTT ITKEAYDALS RKSAACQDDL
760 770 780 790 800
TQALEKLNHV TSETKSLQQS LTQTQEKKAQ LEEEIIAYEE RMKKLNTELR
810 820 830 840 850
KLRGFHQESE LEVHAFDKKL EEMSCQVLQW QKQHQNDLKM LAAKEEQLRE
860 870 880 890 900
FQEEMAALKE NLLEDDKEPC CLPQWSVPKD TCRLYRGNDQ IMTNLEQWAK
910 920 930 940 950
QQKVANEKLG NQLREQVKYI AKLSGEKDHL HSVMVHLQQE NKKLKKEIEE
960 970 980 990 1000
KKMKAENTRL CTKALGPSRT ESTQREKVCG TLGWKGLPQD MGQRMDLTKY
1010 1020
IGMPHCPGTS AICQKNKCDF FL
Length:1,022
Mass (Da):119,079
Last modified:March 28, 2018 - v2
Checksum:iFCC3021294E55205
GO
Isoform 2 (identifier: Q8TBY8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     483-487: Missing.
     1009-1022: TSAICQKNKCDFFL → SSYC

Note: No experimental confirmation available.
Show »
Length:1,007
Mass (Da):117,494
Checksum:i98C51191F9C3252D
GO
Isoform 3 (identifier: Q8TBY8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     483-487: Missing.
     515-724: Missing.
     1009-1022: TSAICQKNKCDFFL → SSYC

Note: No experimental confirmation available.
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.
     483-487: Missing.
     928-928: D → DREPTRASSPNTTRPSSPSHS
     1009-1022: TSAICQKNKCDFFL → SSYC

Note: No experimental confirmation available.
Show »
Length:882
Mass (Da):102,500
Checksum:i6100FF9DD7C854C4
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H5J2F5H5J2_HUMAN
Polyamine-modulated factor 1-bindin...
PMFBP1
116Annotation score:
F5H4F8F5H4F8_HUMAN
Polyamine-modulated factor 1-bindin...
PMFBP1
156Annotation score:
F5GXW3F5GXW3_HUMAN
Polyamine-modulated factor 1-bindin...
PMFBP1
110Annotation score:
H0YFP6H0YFP6_HUMAN
Polyamine-modulated factor 1-bindin...
PMFBP1
502Annotation score:
F8W771F8W771_HUMAN
Polyamine-modulated factor 1-bindin...
PMFBP1
101Annotation score:
F5GYR2F5GYR2_HUMAN
Polyamine-modulated factor 1-bindin...
PMFBP1
47Annotation score:
F5H0H9F5H0H9_HUMAN
Polyamine-modulated factor 1-bindin...
PMFBP1
68Annotation score:

Sequence cautioni

The sequence AAK15456 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti238T → A in BAC04121 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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_035045650K → T. Corresponds to variant dbSNP:rs34832584Ensembl.1
Natural variantiVAR_056974655T → K. Corresponds to variant dbSNP:rs34832584Ensembl.1
Natural variantiVAR_069056918K → N2 PublicationsCorresponds to variant dbSNP:rs16973716Ensembl.1
Natural variantiVAR_0802221013C → G1 PublicationCorresponds to variant dbSNP:rs17852563Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0453531 – 145Missing in isoform 4. 1 PublicationAdd BLAST145
Alternative sequenceiVSP_028043483 – 487Missing in isoform 2, isoform 3 and isoform 4. 3 Publications5
Alternative sequenceiVSP_028044515 – 724Missing in isoform 3. 1 PublicationAdd BLAST210
Alternative sequenceiVSP_045354928D → DREPTRASSPNTTRPSSPSH S in isoform 4. 1 Publication1
Alternative sequenceiVSP_0280451009 – 1022TSAIC…CDFFL → SSYC in isoform 2, isoform 3 and isoform 4. 3 PublicationsAdd BLAST14

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]
UniGeneiHs.714939

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 [Q8TBY8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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]
UniGeneiHs.714939

3D structure databases

ProteinModelPortaliQ8TBY8
SMRiQ8TBY8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123651, 3 interactors
IntActiQ8TBY8, 3 interactors

PTM databases

iPTMnetiQ8TBY8
PhosphoSitePlusiQ8TBY8

Polymorphism and mutation databases

BioMutaiPMFBP1
DMDMi74751395

Proteomic databases

PaxDbiQ8TBY8
PeptideAtlasiQ8TBY8
PRIDEiQ8TBY8
ProteomicsDBi74048
74049 [Q8TBY8-2]
74050 [Q8TBY8-3]

Protocols and materials databases

DNASUi83449
Structural Biology KnowledgebaseSearch...

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 [Q8TBY8-1]

Organism-specific databases

CTDi83449
EuPathDBiHostDB:ENSG00000118557.15
GeneCardsiPMFBP1
HGNCiHGNC:17728 PMFBP1
HPAiHPA056716
MIMi618085 gene
neXtProtiNX_Q8TBY8
OpenTargetsiENSG00000118557
PharmGKBiPA38464
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IV92 Eukaryota
ENOG4112C9M LUCA
GeneTreeiENSGT00390000012700
HOGENOMiHOG000060143
HOVERGENiHBG072641
InParanoidiQ8TBY8
OMAiQENQLCV
OrthoDBiEOG091G02GR
PhylomeDBiQ8TBY8
TreeFamiTF336266

Miscellaneous databases

GeneWikiiPMFBP1
GenomeRNAii83449
PROiPR:Q8TBY8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118557 Expressed in 93 organ(s), highest expression level in sperm
CleanExiHS_PMFBP1
ExpressionAtlasiQ8TBY8 baseline and differential
GenevisibleiQ8TBY8 HS

Family and domain databases

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

Entry informationi

Entry nameiPMFBP_HUMAN
AccessioniPrimary (citable) accession number: Q8TBY8
Secondary accession number(s): B3KVI9
, G3V1Q7, H7BY07, Q8NA09, Q9BY16, Q9H0H4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: March 28, 2018
Last modified: November 7, 2018
This is version 108 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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