P78424 (PO6F2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

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	691 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	Homeobox
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	central nervous system development Traceable author statement Ref.1. Source: ProtInc ganglion mother cell fate determination Traceable author statement Ref.1. Source: ProtInc transcription from RNA polymerase II promoter Traceable author statement Ref.1. Source: ProtInc visual perception Traceable author statement Ref.1. Source: ProtInc
Cellular_component	nucleus Inferred by curator Ref.1. Source: UniProtKB
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 691	691	POU domain, class 6, transcription factor 2		PRO_0000100762
Regions
	Domain	476 – 586	111	POU-specific
	DNA binding	607 – 666	60	Homeobox By similarity
	Compositional bias	167 – 446	280	Gln-rich
	Compositional bias	197 – 293	97	Pro-rich
	Compositional bias	435 – 461	27	Ser-rich
Natural variations
	Alternative sequence	524 – 559	36	Missing in isoform 2.		VSP_002336
	Natural variant	192	1	Q → H in WT5. Ref.4		VAR_022419
	Natural variant	199	1	P → L. Corresponds to variant rs2074936 [ dbSNP | Ensembl ].		VAR_028410
	Natural variant	500	1	L → M. Corresponds to variant rs4992268 [ dbSNP | Ensembl ].		VAR_028411
	Natural variant	639	1	E → K. Corresponds to variant rs7804851 [ dbSNP | Ensembl ].		VAR_028412
Experimental info
	Sequence conflict	196	1	Q → QQ in AAB49727. Ref.1
	Sequence conflict	196	1	Q → QQ in AAB49728. Ref.1
	Sequence conflict	258	1	Q → H in AAB49727. Ref.1
	Sequence conflict	258	1	Q → H in AAB49728. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 5, 2011. Version 3. Checksum: 3460C858ECBB5535	FASTA	691	73,265
	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
	Isoform 2 [UniParc]. Checksum: AB9FFB1A958C3978	FASTA	655	69,248
	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 AICRFEKLDI TPKSAQKIKP 550 560 570 580 590 600 VLERWMAEAE ARHRAGMQNL TEFIGSEPSK KRKRRTSFTP QALEILNAHF EKNTHPSGQE 610 620 630 640 650 MTEIAEKLNY DREVVRVWFC NKRQALKNTI KRLKQHEPAT AVPLEPLTDS LEENS

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.
IPI	IPI00220088. IPI00926929.
RefSeq	NP_001159490.1. NM_001166018.1. NP_009183.3. NM_007252.3.
UniGene	Hs.137106.
3D structure databases
ProteinModelPortal	P78424.
SMR	P78424. Positions 480-664.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000395926.
PTM databases
PhosphoSite	P78424.
Polymorphism databases
DMDM	116242721.
Proteomic databases
PaxDb	P78424.
PRIDE	P78424.
Protocols and materials databases
DNASU	11281.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000403058; ENSP00000384004; ENSG00000106536. ENST00000518318; ENSP00000430514; ENSG00000106536.
GeneID	11281.
KEGG	hsa:11281.
UCSC	uc003thb.2. human. uc022acb.1. human.
Organism-specific databases
CTD	11281.
GeneCards	GC07P039012.
HGNC	HGNC:21694. POU6F2.
HPA	HPA008699.
MIM	601583. phenotype. 609062. gene.
neXtProt	NX_P78424.
Orphanet	654. Nephroblastoma.
PharmGKB	PA134969420.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG241882.
HOVERGEN	HBG008230.
InParanoid	P78424.
KO	K09368.
OMA	LKQHEPT.
OrthoDB	EOG4FFD1X.
Gene expression databases
ArrayExpress	P78424.
Bgee	P78424.
CleanEx	HS_POU6F2.
Genevestigator	P78424.
GermOnline	ENSG00000106536. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit. 1.10.260.40. 2 hits.
InterPro	IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR010982. Lambda_DNA-bd_dom. IPR013847. POU. IPR000327. POU_specific. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. PF00157. Pou. 2 hits. [Graphical view]
PRINTS	PR00028. POUDOMAIN.
SMART	SM00389. HOX. 1 hit. SM00352. POU. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit. SSF47413. Lambda_like_DNA. 1 hit.
PROSITE	PS00027. 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]
ProtoNet	Search...
Other
ChiTaRS	POU6F2. human.
GenomeRNAi	11281.
NextBio	42945.
SOURCE	Search...

Entry information

Entry name

PO6F2_HUMAN

Accession

Primary (citable) accession number: P78424
Secondary accession number(s): A4D1W2 , C4AMB9, P78425, Q75ME8, Q86UM6, Q9UDS7

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 2003
Last sequence update:	April 5, 2011
Last modified:	May 1, 2013
This is version 122 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.