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Protein

Protein POF1B

Gene

POF1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development.2 Publications

Keywords - Ligandi

Actin-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Protein POF1B
Alternative name(s):
Premature ovarian failure protein 1B
Gene namesi
Name:POF1B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:13711. POF1B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Tight junction

Pathology & Biotechi

Involvement in diseasei

Premature ovarian failure 2B (POF2B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
See also OMIM:300604
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti329 – 3291R → Q in POF2B; disrupts binding to nonmuscle actin filaments; abolishes tight junction localization; altered ciliogenesis and cystogenesis. 3 Publications
Corresponds to variant rs75398746 [ dbSNP | Ensembl ].
VAR_028757

Keywords - Diseasei

Disease mutation, Premature ovarian failure

Organism-specific databases

MalaCardsiPOF1B.
MIMi300604. phenotype.
Orphaneti619. Primary ovarian failure.
PharmGKBiPA134937695.

Polymorphism and mutation databases

BioMutaiPOF1B.
DMDMi332278224.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 589589Protein POF1BPRO_0000253911Add
BLAST

Proteomic databases

EPDiQ8WVV4.
MaxQBiQ8WVV4.
PaxDbiQ8WVV4.
PeptideAtlasiQ8WVV4.
PRIDEiQ8WVV4.

PTM databases

iPTMnetiQ8WVV4.
PhosphoSiteiQ8WVV4.

Expressioni

Gene expression databases

BgeeiENSG00000124429.
CleanExiHS_POF1B.
GenevisibleiQ8WVV4. HS.

Organism-specific databases

HPAiHPA002033.
HPA050027.

Interactioni

Subunit structurei

Interacts with nonmuscle actin.1 Publication

Protein-protein interaction databases

BioGridi123048. 38 interactions.
IntActiQ8WVV4. 3 interactions.
STRINGi9606.ENSP00000262753.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3BH9X-ray1.70C53-62[»]
ProteinModelPortaliQ8WVV4.
SMRiQ8WVV4. Positions 336-371.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8WVV4.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili334 – 443110Sequence analysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IER4. Eukaryota.
ENOG410YDPU. LUCA.
GeneTreeiENSGT00390000000141.
HOVERGENiHBG080408.
InParanoidiQ8WVV4.
OMAiLENDKMR.
OrthoDBiEOG091G0754.
TreeFamiTF331412.

Family and domain databases

InterProiIPR026186. POF1B.
[Graphical view]
PANTHERiPTHR22546. PTHR22546. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 2 (identifier: Q8WVV4-2) [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
MSSSYWSETS SSSCGTQQLP EVLQCQPQHY HCYHQSSQAQ QPPEKNVVYE
60 70 80 90 100
RVRTYSGPMN KVVQALDPFN SREVLSPLKT TSSYQNLVWS DHSQELHSPT
110 120 130 140 150
LKISTCAPST LHITQNTEQE LHSPTVKLTT YPQTTIRKYV VQNPEQEPLS
160 170 180 190 200
QFLRGSHFFP GNNVIYEKTI RKVEKLNTDQ GCHPQAQCHH HIIQQPQVIH
210 220 230 240 250
SAHWQQPDSS QQIQAITGNN PISTHIGNEL CHSGSSQICE QVIIQDDGPE
260 270 280 290 300
KLDPRYFGEL LADLSRKNTD LYHCLLEHLQ RIGGSKQDFE STDESEDIES
310 320 330 340 350
LIPKGLSEFT KQQIRYILQM RGMSDKSLRL VLSTFSNIRE ELGHLQNDMT
360 370 380 390 400
SLENDKMRLE KDLSFKDTQL KEYEELLASV RANNHQQQQG LQDSSSKCQA
410 420 430 440 450
LEENNLSLRH TLSDMEYRLK ELEYCKRNLE QENQNLRMQV SETCTGPMLQ
460 470 480 490 500
AKMDEIGNHY TEMVKNLRME KDREICRLRS QLNQYHKDVS KREGSCSDFQ
510 520 530 540 550
FKLHELTSLL EEKDSLIKRQ SEELSKLRQE IYSSHNQPST GGRTTITTKK
560 570 580
YRTQYPILGL LYDDYEYIPP GSETQTIVIE KTEDKYTCP
Length:589
Mass (Da):68,065
Last modified:May 3, 2011 - v3
Checksum:i6698CBE405364159
GO
Isoform 1 (identifier: Q8WVV4-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     589-589: P → VSSLGHF

Show »
Length:595
Mass (Da):68,696
Checksum:iD2152F2FF86E8338
GO
Isoform 3 (identifier: Q8WVV4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     284-306: GSKQDFESTDESEDIESLIPKGL → RKQSLSSTYTIRHGIQTKRTGIL
     307-589: Missing.

Note: No experimental confirmation available.
Show »
Length:306
Mass (Da):34,841
Checksum:iF94BE58D7A070CA8
GO

Sequence cautioni

The sequence BAB15061 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15485 differs from that shown. Reason: Frameshift at position 464. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti180 – 1801Q → E in AAM93270 (PubMed:15459172).Curated
Sequence conflicti503 – 5031L → F in BAB15485 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti207 – 2071P → S.
Corresponds to variant rs363766 [ dbSNP | Ensembl ].
VAR_028753
Natural varianti239 – 2391C → S.1 Publication
Corresponds to variant rs147563033 [ dbSNP | Ensembl ].
VAR_028754
Natural varianti296 – 2961E → A.
Corresponds to variant rs363751 [ dbSNP | Ensembl ].
VAR_028755
Natural varianti323 – 3231M → V.
Corresponds to variant rs363775 [ dbSNP | Ensembl ].
VAR_028756
Natural varianti329 – 3291R → Q in POF2B; disrupts binding to nonmuscle actin filaments; abolishes tight junction localization; altered ciliogenesis and cystogenesis. 3 Publications
Corresponds to variant rs75398746 [ dbSNP | Ensembl ].
VAR_028757
Natural varianti349 – 3491M → L.4 Publications
Corresponds to variant rs363774 [ dbSNP | Ensembl ].
VAR_028758
Natural varianti434 – 4341Q → K.1 Publication
Corresponds to variant rs139385491 [ dbSNP | Ensembl ].
VAR_028759
Natural varianti444 – 4441C → Y.1 Publication
Corresponds to variant rs768162591 [ dbSNP | Ensembl ].
VAR_028760

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei284 – 30623GSKQD…IPKGL → RKQSLSSTYTIRHGIQTKRT GIL in isoform 3. 1 PublicationVSP_021149Add
BLAST
Alternative sequencei307 – 589283Missing in isoform 3. 1 PublicationVSP_021150Add
BLAST
Alternative sequencei589 – 5891P → VSSLGHF in isoform 1. 1 PublicationVSP_021151

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF309774 mRNA. Translation: AAM93270.1.
AK025039 mRNA. Translation: BAB15055.1.
AK025080 mRNA. Translation: BAB15061.1. Different initiation.
AK026445 mRNA. Translation: BAB15485.1. Sequence problems.
AK290360 mRNA. Translation: BAF83049.1.
AK314295 mRNA. Translation: BAG36950.1.
AL117325, Z82216 Genomic DNA. Translation: CAI42100.1.
AL117325, Z82216 Genomic DNA. Translation: CAI42101.1.
Z82216, AL117325 Genomic DNA. Translation: CAI43050.1.
Z82216, AL117325 Genomic DNA. Translation: CAI43051.1.
CH471104 Genomic DNA. Translation: EAW98561.1.
BC017500 mRNA. Translation: AAH17500.1.
CCDSiCCDS14452.1. [Q8WVV4-2]
CCDS78497.1. [Q8WVV4-1]
RefSeqiNP_001294869.1. NM_001307940.1. [Q8WVV4-1]
NP_079197.3. NM_024921.3. [Q8WVV4-2]
UniGeneiHs.267038.

Genome annotation databases

EnsembliENST00000262753; ENSP00000262753; ENSG00000124429. [Q8WVV4-2]
ENST00000373145; ENSP00000362238; ENSG00000124429. [Q8WVV4-1]
GeneIDi79983.
KEGGihsa:79983.
UCSCiuc004eer.3. human. [Q8WVV4-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF309774 mRNA. Translation: AAM93270.1.
AK025039 mRNA. Translation: BAB15055.1.
AK025080 mRNA. Translation: BAB15061.1. Different initiation.
AK026445 mRNA. Translation: BAB15485.1. Sequence problems.
AK290360 mRNA. Translation: BAF83049.1.
AK314295 mRNA. Translation: BAG36950.1.
AL117325, Z82216 Genomic DNA. Translation: CAI42100.1.
AL117325, Z82216 Genomic DNA. Translation: CAI42101.1.
Z82216, AL117325 Genomic DNA. Translation: CAI43050.1.
Z82216, AL117325 Genomic DNA. Translation: CAI43051.1.
CH471104 Genomic DNA. Translation: EAW98561.1.
BC017500 mRNA. Translation: AAH17500.1.
CCDSiCCDS14452.1. [Q8WVV4-2]
CCDS78497.1. [Q8WVV4-1]
RefSeqiNP_001294869.1. NM_001307940.1. [Q8WVV4-1]
NP_079197.3. NM_024921.3. [Q8WVV4-2]
UniGeneiHs.267038.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3BH9X-ray1.70C53-62[»]
ProteinModelPortaliQ8WVV4.
SMRiQ8WVV4. Positions 336-371.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123048. 38 interactions.
IntActiQ8WVV4. 3 interactions.
STRINGi9606.ENSP00000262753.

PTM databases

iPTMnetiQ8WVV4.
PhosphoSiteiQ8WVV4.

Polymorphism and mutation databases

BioMutaiPOF1B.
DMDMi332278224.

Proteomic databases

EPDiQ8WVV4.
MaxQBiQ8WVV4.
PaxDbiQ8WVV4.
PeptideAtlasiQ8WVV4.
PRIDEiQ8WVV4.

Protocols and materials databases

DNASUi79983.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262753; ENSP00000262753; ENSG00000124429. [Q8WVV4-2]
ENST00000373145; ENSP00000362238; ENSG00000124429. [Q8WVV4-1]
GeneIDi79983.
KEGGihsa:79983.
UCSCiuc004eer.3. human. [Q8WVV4-2]

Organism-specific databases

CTDi79983.
GeneCardsiPOF1B.
H-InvDBHIX0021709.
HIX0176741.
HGNCiHGNC:13711. POF1B.
HPAiHPA002033.
HPA050027.
MalaCardsiPOF1B.
MIMi300603. gene.
300604. phenotype.
neXtProtiNX_Q8WVV4.
Orphaneti619. Primary ovarian failure.
PharmGKBiPA134937695.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IER4. Eukaryota.
ENOG410YDPU. LUCA.
GeneTreeiENSGT00390000000141.
HOVERGENiHBG080408.
InParanoidiQ8WVV4.
OMAiLENDKMR.
OrthoDBiEOG091G0754.
TreeFamiTF331412.

Miscellaneous databases

EvolutionaryTraceiQ8WVV4.
GeneWikiiPOF1B.
GenomeRNAii79983.
PROiQ8WVV4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000124429.
CleanExiHS_POF1B.
GenevisibleiQ8WVV4. HS.

Family and domain databases

InterProiIPR026186. POF1B.
[Graphical view]
PANTHERiPTHR22546. PTHR22546. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiPOF1B_HUMAN
AccessioniPrimary (citable) accession number: Q8WVV4
Secondary accession number(s): A8K2U5
, Q5H9E9, Q5H9F0, Q8NG12, Q9H5Y2, Q9H738, Q9H744
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: May 3, 2011
Last modified: September 7, 2016
This is version 107 of the entry and version 3 of the sequence. [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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.