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Reviewed, UniProtKB/Swiss-Prot P78424 (PO6F2_HUMAN)

Last modified November 25, 2008. Version 76. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    POU domain, class 6, transcription factor 2
Alternative name(s):
    Retina-derived POU domain factor 1
      Short name=RPF-1
Gene names
Name: POU6F2
Synonyms: RPF1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length683 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5'-ATGCAAAT-3'. Isoform 1 does not bind DNA.

Subcellular location

NucleusProbable.

Tissue specificity

Expressed only within the CNS, where its expression is restricted to the medical habenulla, to a dispersed population of neurons in the dorsal hypothalamus, and to subsets of ganglion and amacrine cells in the retina.

Involvement in disease

Defects in POU6F2 are a cause of hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583]. WT5 is a pediatric malignancy of kidney and one of the most common solid cancers in childhood.

Sequence similarities

Belongs to the POU transcription factor family. Class-6 subfamily.

Contains 1 homeobox DNA-binding domain.

Contains 1 POU-specific domain.

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Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P78424-1)

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.
Notes: Major isoform.
Isoform 2 (identifier: P78424-2)

The sequence of this isoform differs from the canonical sequence as follows:
     517-552: Missing.

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 683683POU domain, class 6, transcription factor 2
PRO_0000100762

Regions

Domain468 – 578111POU-specific
DNA binding599 – 65860Homeobox
Compositional bias159 – 438280Gln-rich
Compositional bias189 – 28597Pro-rich
Compositional bias427 – 45327Ser-rich

Natural variations

Alternative sequence517 – 55236Missing in isoform 2.
VSP_002336
Natural variant1841Q → H in WT5.
VAR_022419
Natural variant1911P → L: dbSNP rs2074936.
VAR_028410
Natural variant4921L → M: dbSNP rs4992268.
VAR_028411
Natural variant6311E → K: dbSNP rs7804851.
VAR_028412

Experimental info

Sequence conflict1881Q → QQ in AAB49727 and AAB49728. Ref.1
Sequence conflict2501Q → H in AAB49727 and AAB49728. Ref.1

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Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: 6F3B1EA04D8E2739

FASTA68372,409
        10         20         30         40         50         60 
MIAGQVSKPL LSVRSEMNAE LRGEDKAATS DSELNEPLLA PVESNDSEDT PSKLFGARGN 

        70         80         90        100        110        120 
PALSDPGTPD QHQASQTHPP FPVGPQPLLT AQQLASAVAG VMPGGPPALN QPILIPFNMA 

       130        140        150        160        170        180 
GQLGGQQGLV LTLPTANLTN IQGLVAAAAA GGIMTLPLQN LQATSSLNSQ LQQLQLQLQQ 

       190        200        210        220        230        240 
QQQQQQQQPP PSTNQHPQPA PQAPSQSQQQ PLQPTPPQQP PPASQQPPAP TSQLQQAPQP 

       250        260        270        280        290        300 
QQHQPHSHSQ NQNQPSPTQQ SSSPPQKPSQ SPGHGLPSPL TPPNPLQLVN NPLASQAAAA 

       310        320        330        340        350        360 
AAAMSSIASS QAFGNALSSL QGVTGQLVTN AQGQIIGTIP LMPNPGPSSQ AASGTQGLQV 

       370        380        390        400        410        420 
QPITPQLLTN AQGQIIATVI GNQILPVINT QGITLSPIKP GQQLHQPSQT SVGQAASQGN 

       430        440        450        460        470        480 
LLHLAHSQAS MSQSPVRQAS SSSSSSSSSS ALSVGQLVSN PQTAAGEVDG VNLEEIREFA 

       490        500        510        520        530        540 
KAFKIRRLSL GLTQTQVGQA LSATEGPAYS QSAICRHTIL RSHFFLPQEA QENTIASSLT 

       550        560        570        580        590        600 
AKLNPGLLYP ARFEKLDITP KSAQKIKPVL ERWMAEAEAR HRAGMQNLTE FIGSEPSKKR 

       610        620        630        640        650        660 
KRRTSFTPQA LEILNAHFEK NTHPSGQEMT EIAEKLNYDR EVVRVWFCNK RQALKNTIKR 

       670        680 
LKQHEPATAV PLEPLTDSLE ENS

« Hide

Isoform 2 [UniParc].

Checksum: CB4DC724EC6D9538
Show »

64768,392

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References

« Hide 'large scale' references
[1]"Retina-derived POU-domain factor-1: a complex POU-domain gene implicated in the development of retinal ganglion and amacrine cells."
Zhou H., Yoshioka T., Nathans J.
J. Neurosci. 16:2261-2274(1996) [PubMed: 8601806] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
Tissue: Retina.
[2]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed: 12853948] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours."
Perotti D., Testi M.A., Mondini P., Pilotti S., Green E.D., Pession A., Sozzi G., Pierotti M.A., Fossati-Bellani F., Radice P.
Genes Chromosomes Cancer 31:42-47(2001) [PubMed: 11284034] [Abstract]
Cited for: VARIANT WT5 HIS-184.
+Additional computationally mapped references.

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Cross-references

Sequence databases

U91934 Genomic DNA. Translation: AAB49727.1.
U91935 mRNA. Translation: AAB49728.1.
AC005483 Genomic DNA. Translation: AAC83404.2.
AC073345 Genomic DNA. Translation: AAS07475.1.
AC092174 Genomic DNA. Translation: AAP21873.1.
RefSeqNP_009183.3.
UniGeneHs.137106

3D structure databases

HSSPHSSP built from PDB template 1CQT based on UniProtKB P14859.
ModBaseSearch...

Genome annotation databases

EnsemblENSG00000106536. Homo sapiens. [Contig view]
GeneID11281.
KEGGhsa:11281.

Organism-specific databases

H-InvDBHIX0033738.
HGNCHGNC:21694. POU6F2.
HPAHPA008699.
MIM601583. phenotype.
609062. gene.
Orphanet3458. Wilms tumour - radial bilateral aplasia.
PharmGKBPA134969420.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMP78424.
HOVERGENP78424.

Gene expression databases

ArrayExpressP78424.
CleanExHS_POU6F2.
GermOnlineENSG00000106536. Homo sapiens.

Family and domain databases

InterProIPR001356. Homeobox.
IPR012287. Homeodomain-rel.
IPR013847. POU.
IPR000327. POU_specific.
[Graphical view]
Gene3DG3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
PfamPF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view]
PRINTSPR00028. POUDOMAIN.
ProDomPD000010. Homeobox. 1 hit.
PD000583. POU. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
PROSITEPS00027. HOMEOBOX_1. False negative.
PS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio42945.
SOURCESearch...

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Entry information

Entry namePO6F2_HUMAN
AccessionPrimary (citable) accession number: P78424
Secondary accession number(s): P78425 expand/collapse secondary AC list , Q75ME8, Q86UM6, Q9UDS7
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 2003
Last sequence update: October 17, 2006
Last modified: November 25, 2008
This is version 76 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents