Q8WVV4 (POF1B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein POF1B

Alternative name(s):
Premature ovarian failure protein 1B

Gene names

Name:

POF1B

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	589 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in ovary development. Ref.6
Subunit structure	Interacts with nonmuscle actin. Ref.6
Involvement in disease	Premature ovarian failure 2B (POF2B) [MIM:300604]: An 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6
Sequence caution	The sequence BAB15061.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB15485.1 differs from that shown. Reason: Frameshift at position 464.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Premature ovarian failure
Domain	Coiled coil
Ligand	Actin-binding
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 2 (identifier: Q8WVV4-2)

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.

Isoform 1 (identifier: Q8WVV4-1)

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

Isoform 3 (identifier: Q8WVV4-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 589	589	Protein POF1B		PRO_0000253911
Regions
	Coiled coil	334 – 443	110	Potential
Amino acid modifications
	Modified residue	413	1	Phosphoserine By similarity
	Modified residue	495	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	284 – 306	23	GSKQD…IPKGL → RKQSLSSTYTIRHGIQTKRT GIL in isoform 3.		VSP_021149
	Alternative sequence	307 – 589	283	Missing in isoform 3.		VSP_021150
	Alternative sequence	589	1	P → VSSLGHF in isoform 1.		VSP_021151
	Natural variant	207	1	P → S. Corresponds to variant rs363766 [ dbSNP | Ensembl ].		VAR_028753
	Natural variant	239	1	C → S. Ref.1		VAR_028754
	Natural variant	296	1	E → A. Corresponds to variant rs363751 [ dbSNP | Ensembl ].		VAR_028755
	Natural variant	323	1	M → V. Corresponds to variant rs363775 [ dbSNP | Ensembl ].		VAR_028756
	Natural variant	329	1	R → Q in POF2B; disrupts binding to nonmuscle actin filaments. Ref.1 Ref.6		VAR_028757
	Natural variant	349	1	M → L. Ref.1 Ref.2 Ref.4 Ref.5 Corresponds to variant rs363774 [ dbSNP | Ensembl ].		VAR_028758
	Natural variant	434	1	Q → K. Ref.1		VAR_028759
	Natural variant	444	1	C → Y. Ref.1		VAR_028760
Experimental info
	Sequence conflict	180	1	Q → E in AAM93270. Ref.1
	Sequence conflict	503	1	L → F in BAB15485. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 2 [UniParc]. Last modified May 3, 2011. Version 3. Checksum: 6698CBE405364159	FASTA	589	68,065
	10 20 30 40 50 60 MSSSYWSETS SSSCGTQQLP EVLQCQPQHY HCYHQSSQAQ QPPEKNVVYE RVRTYSGPMN 70 80 90 100 110 120 KVVQALDPFN SREVLSPLKT TSSYQNLVWS DHSQELHSPT LKISTCAPST LHITQNTEQE 130 140 150 160 170 180 LHSPTVKLTT YPQTTIRKYV VQNPEQEPLS QFLRGSHFFP GNNVIYEKTI RKVEKLNTDQ 190 200 210 220 230 240 GCHPQAQCHH HIIQQPQVIH SAHWQQPDSS QQIQAITGNN PISTHIGNEL CHSGSSQICE 250 260 270 280 290 300 QVIIQDDGPE KLDPRYFGEL LADLSRKNTD LYHCLLEHLQ RIGGSKQDFE STDESEDIES 310 320 330 340 350 360 LIPKGLSEFT KQQIRYILQM RGMSDKSLRL VLSTFSNIRE ELGHLQNDMT SLENDKMRLE 370 380 390 400 410 420 KDLSFKDTQL KEYEELLASV RANNHQQQQG LQDSSSKCQA LEENNLSLRH TLSDMEYRLK 430 440 450 460 470 480 ELEYCKRNLE QENQNLRMQV SETCTGPMLQ AKMDEIGNHY TEMVKNLRME KDREICRLRS 490 500 510 520 530 540 QLNQYHKDVS KREGSCSDFQ FKLHELTSLL EEKDSLIKRQ SEELSKLRQE IYSSHNQPST 550 560 570 580 GGRTTITTKK YRTQYPILGL LYDDYEYIPP GSETQTIVIE KTEDKYTCP
	Isoform 1 [UniParc]. Checksum: D2152F2FF86E8338	FASTA	595	68,696
	10 20 30 40 50 60 MSSSYWSETS SSSCGTQQLP EVLQCQPQHY HCYHQSSQAQ QPPEKNVVYE RVRTYSGPMN 70 80 90 100 110 120 KVVQALDPFN SREVLSPLKT TSSYQNLVWS DHSQELHSPT LKISTCAPST LHITQNTEQE 130 140 150 160 170 180 LHSPTVKLTT YPQTTIRKYV VQNPEQEPLS QFLRGSHFFP GNNVIYEKTI RKVEKLNTDQ 190 200 210 220 230 240 GCHPQAQCHH HIIQQPQVIH SAHWQQPDSS QQIQAITGNN PISTHIGNEL CHSGSSQICE 250 260 270 280 290 300 QVIIQDDGPE KLDPRYFGEL LADLSRKNTD LYHCLLEHLQ RIGGSKQDFE STDESEDIES 310 320 330 340 350 360 LIPKGLSEFT KQQIRYILQM RGMSDKSLRL VLSTFSNIRE ELGHLQNDMT SLENDKMRLE 370 380 390 400 410 420 KDLSFKDTQL KEYEELLASV RANNHQQQQG LQDSSSKCQA LEENNLSLRH TLSDMEYRLK 430 440 450 460 470 480 ELEYCKRNLE QENQNLRMQV SETCTGPMLQ AKMDEIGNHY TEMVKNLRME KDREICRLRS 490 500 510 520 530 540 QLNQYHKDVS KREGSCSDFQ FKLHELTSLL EEKDSLIKRQ SEELSKLRQE IYSSHNQPST 550 560 570 580 590 GGRTTITTKK YRTQYPILGL LYDDYEYIPP GSETQTIVIE KTEDKYTCVS SLGHF
	Isoform 3 [UniParc]. Checksum: F94BE58D7A070CA8	FASTA	306	34,841
	10 20 30 40 50 60 MSSSYWSETS SSSCGTQQLP EVLQCQPQHY HCYHQSSQAQ QPPEKNVVYE RVRTYSGPMN 70 80 90 100 110 120 KVVQALDPFN SREVLSPLKT TSSYQNLVWS DHSQELHSPT LKISTCAPST LHITQNTEQE 130 140 150 160 170 180 LHSPTVKLTT YPQTTIRKYV VQNPEQEPLS QFLRGSHFFP GNNVIYEKTI RKVEKLNTDQ 190 200 210 220 230 240 GCHPQAQCHH HIIQQPQVIH SAHWQQPDSS QQIQAITGNN PISTHIGNEL CHSGSSQICE 250 260 270 280 290 300 QVIIQDDGPE KLDPRYFGEL LADLSRKNTD LYHCLLEHLQ RIGRKQSLSS TYTIRHGIQT KRTGIL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B." Bione S., Rizzolio F., Sala C., Ricotti R., Goegan M., Manzini M.C., Battaglia R., Marozzi A., Vegetti W., Dalpra L., Crosignani P.G., Ginelli E., Nappi R., Bernabini S., Bruni V., Torricelli F., Zuffardi O., Toniolo D. Hum. Reprod. 19:2759-2766(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS SER-239; GLN-329; LEU-349; LYS-434 AND TYR-444.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANT LEU-349. Tissue: Colon, Ileal mucosa, Placenta and Tongue.
[3]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LEU-349.
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-349. Tissue: Muscle.
[6]	"Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure." Lacombe A., Lee H., Zahed L., Choucair M., Muller J.-M., Nelson S.F., Salameh W., Vilain E. Am. J. Hum. Genet. 79:113-119(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH ACTIN, VARIANT POF2B GLN-329, CHARACTERIZATION OF VARIANT POF2B GLN-329.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00103242.
IPI00646687.
IPI00794787.

RefSeq

NP_079197.3. NM_024921.3.

UniGene

Hs.267038.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3BH9	X-ray	1.70	C	53-62	[»]

ProteinModelPortal

Q8WVV4.

SMR

Q8WVV4. Positions 477-508.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q8WVV4. 2 interactions.

STRING

9606.ENSP00000262753.

Polymorphism databases

DMDM

116248583.

Proteomic databases

PaxDb

Q8WVV4.

PRIDE

Q8WVV4.

Protocols and materials databases

DNASU

79983.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000262753; ENSP00000262753; ENSG00000124429.
ENST00000373145; ENSP00000362238; ENSG00000124429.

GeneID

79983.

KEGG

hsa:79983.

UCSC

uc004eer.2. human.
uc004ees.3. human.

Organism-specific databases

CTD

79983.

GeneCards

GC0XM084532.

H-InvDB

HIX0021709.
HIX0176741.

HGNC

HGNC:13711. POF1B.

HPA

HPA002033.

MIM

300603. gene.
300604. phenotype.

neXtProt

NX_Q8WVV4.

Orphanet

619. Primary ovarian failure.

PharmGKB

PA134937695.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG28199.

HOVERGEN

HBG080408.

InParanoid

Q8WVV4.

OMA

EQVIIQD.

OrthoDB

EOG4MW85V.

PhylomeDB

Q8WVV4.

Gene expression databases

ArrayExpress

Q8WVV4.

Bgee

Q8WVV4.

CleanEx

HS_POF1B.

Genevestigator

Q8WVV4.

GermOnline

ENSG00000124429. Homo sapiens.

Family and domain databases

InterPro

IPR026186. POF1B.
[Graphical view]

PANTHER

PTHR22546. PTHR22546. 1 hit.

ProtoNet

Search...

Other

EvolutionaryTrace

Q8WVV4.

GenomeRNAi

79983.

NextBio

70027.

SOURCE

Search...

Entry information

Entry name

POF1B_HUMAN

Accession

Primary (citable) accession number: Q8WVV4
Secondary accession number(s): A8K2U5 , Q5H9E9, Q5H9F0, Q8NG12, Q9H5Y2, Q9H738, Q9H744

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 17, 2006
Last sequence update:	May 3, 2011
Last modified:	May 1, 2013
This is version 79 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.