Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P78424 (PO6F2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

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) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length691 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

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

Nucleus Probable.

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. Ref.1

Involvement in disease

Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583]: Pediatric malignancy of kidney and one of the most common solid cancers in childhood.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

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

Contains 1 homeobox DNA-binding domain.

Contains 1 POU-specific domain.

Sequence caution

The sequence AAB49727.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence AAB49728.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAS07475.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence EAL23992.1 differs from that shown. Reason: Erroneous gene model prediction.

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

The sequence of this isoform differs from the canonical sequence as follows:
     524-559: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 691691POU domain, class 6, transcription factor 2
PRO_0000100762

Regions

Domain476 – 586111POU-specific
DNA binding607 – 66660Homeobox By similarity
Compositional bias167 – 446280Gln-rich
Compositional bias197 – 29397Pro-rich
Compositional bias435 – 46127Ser-rich

Natural variations

Alternative sequence524 – 55936Missing in isoform 2.
VSP_002336
Natural variant1921Q → H in WT5. Ref.4
VAR_022419
Natural variant1991P → L.
Corresponds to variant rs2074936 [ dbSNP | Ensembl ].
VAR_028410
Natural variant5001L → M.
Corresponds to variant rs4992268 [ dbSNP | Ensembl ].
VAR_028411
Natural variant6391E → K.
Corresponds to variant rs7804851 [ dbSNP | Ensembl ].
VAR_028412

Experimental info

Sequence conflict1961Q → QQ in AAB49727. Ref.1
Sequence conflict1961Q → QQ in AAB49728. Ref.1
Sequence conflict2581Q → H in AAB49727. Ref.1
Sequence conflict2581Q → H in AAB49728. Ref.1

Sequences

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

Last modified April 5, 2011. Version 3.
Checksum: 3460C858ECBB5535

FASTA69173,265
        10         20         30         40         50         60 
MSALLQDPMI AGQVSKPLLS VRSEMNAELR GEDKAATSDS ELNEPLLAPV ESNDSEDTPS 

        70         80         90        100        110        120 
KLFGARGNPA LSDPGTPDQH QASQTHPPFP VGPQPLLTAQ QLASAVAGVM PGGPPALNQP 

       130        140        150        160        170        180 
ILIPFNMAGQ LGGQQGLVLT LPTANLTNIQ GLVAAAAAGG IMTLPLQNLQ ATSSLNSQLQ 

       190        200        210        220        230        240 
QLQLQLQQQQ QQQQQQPPPS TNQHPQPAPQ APSQSQQQPL QPTPPQQPPP ASQQPPAPTS 

       250        260        270        280        290        300 
QLQQAPQPQQ HQPHSHSQNQ NQPSPTQQSS SPPQKPSQSP GHGLPSPLTP PNPLQLVNNP 

       310        320        330        340        350        360 
LASQAAAAAA AMSSIASSQA FGNALSSLQG VTGQLVTNAQ GQIIGTIPLM PNPGPSSQAA 

       370        380        390        400        410        420 
SGTQGLQVQP ITPQLLTNAQ GQIIATVIGN QILPVINTQG ITLSPIKPGQ QLHQPSQTSV 

       430        440        450        460        470        480 
GQAASQGNLL HLAHSQASMS QSPVRQASSS SSSSSSSSAL SVGQLVSNPQ TAAGEVDGVN 

       490        500        510        520        530        540 
LEEIREFAKA FKIRRLSLGL TQTQVGQALS ATEGPAYSQS AICRHTILRS HFFLPQEAQE 

       550        560        570        580        590        600 
NTIASSLTAK LNPGLLYPAR FEKLDITPKS AQKIKPVLER WMAEAEARHR AGMQNLTEFI 

       610        620        630        640        650        660 
GSEPSKKRKR RTSFTPQALE ILNAHFEKNT HPSGQEMTEI AEKLNYDREV VRVWFCNKRQ 

       670        680        690 
ALKNTIKRLK QHEPATAVPL EPLTDSLEEN S 

« Hide

Isoform 2 [UniParc].

Checksum: AB9FFB1A958C3978
Show »

FASTA65569,248

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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] [Europe PMC] [Abstract]
Cited for: VARIANT WT5 HIS-192.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U91934 Genomic DNA. Translation: AAB49727.1. Sequence problems.
U91935 mRNA. Translation: AAB49728.1. Different initiation.
AC005483 Genomic DNA. Translation: AAC83404.2.
AC073345 Genomic DNA. Translation: AAS07475.1. Different initiation.
AC092174 Genomic DNA. Translation: AAP21873.1.
AC011292 Genomic DNA. No translation available.
CH236951 Genomic DNA. Translation: EAL23992.1. Sequence problems.
RefSeqNP_001159490.1. NM_001166018.1.
NP_009183.3. NM_007252.3.
UniGeneHs.137106.

3D structure databases

ProteinModelPortalP78424.
SMRP78424. Positions 480-664.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000395926.

PTM databases

PhosphoSiteP78424.

Polymorphism databases

DMDM327478564.

Proteomic databases

PaxDbP78424.
PRIDEP78424.

Protocols and materials databases

DNASU11281.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000403058; ENSP00000384004; ENSG00000106536. [P78424-1]
ENST00000518318; ENSP00000430514; ENSG00000106536. [P78424-2]
GeneID11281.
KEGGhsa:11281.
UCSCuc003thb.2. human. [P78424-1]
uc022acb.1. human. [P78424-2]

Organism-specific databases

CTD11281.
GeneCardsGC07P039012.
HGNCHGNC:21694. POU6F2.
HPAHPA008699.
MIM601583. phenotype.
609062. gene.
neXtProtNX_P78424.
Orphanet654. Nephroblastoma.
PharmGKBPA134969420.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG241882.
HOVERGENHBG008230.
InParanoidP78424.
KOK09368.
OMALKQHEPT.
OrthoDBEOG7353Z3.
PhylomeDBP78424.
TreeFamTF350705.

Gene expression databases

ArrayExpressP78424.
BgeeP78424.
CleanExHS_POU6F2.
GenevestigatorP78424.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
1.10.260.40. 2 hits.
InterProIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR015585. POU_dom_5/6.
IPR000327. POU_specific.
[Graphical view]
PANTHERPTHR11636:SF15. PTHR11636:SF15. 1 hit.
PfamPF00046. Homeobox. 1 hit.
PF00157. Pou. 2 hits.
[Graphical view]
PRINTSPR00028. POUDOMAIN.
SMARTSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 2 hits.
PROSITEPS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPOU6F2. human.
GenomeRNAi11281.
NextBio42945.
PROP78424.
SOURCESearch...

Entry information

Entry namePO6F2_HUMAN
AccessionPrimary (citable) accession number: P78424
Secondary accession number(s): A4D1W2 expand/collapse secondary AC list , C4AMB9, P78425, Q75ME8, Q86UM6, Q9UDS7
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 2003
Last sequence update: April 5, 2011
Last modified: April 16, 2014
This is version 130 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

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