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P78424

- PO6F2_HUMAN

UniProt

P78424 - PO6F2_HUMAN

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Protein

POU domain, class 6, transcription factor 2

Gene

POU6F2

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

Functioni

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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi607 – 66660HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. sequence-specific DNA binding transcription factor activity Source: UniProtKB

GO - Biological processi

  1. central nervous system development Source: ProtInc
  2. ganglion mother cell fate determination Source: ProtInc
  3. regulation of transcription, DNA-templated Source: UniProtKB
  4. transcription from RNA polymerase II promoter Source: ProtInc
  5. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
POU domain, class 6, transcription factor 2
Alternative name(s):
Retina-derived POU domain factor 1
Short name:
RPF-1
Gene namesi
Name:POU6F2
Synonyms:RPF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:21694. POU6F2.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583]: Pediatric malignancy of kidney and one of the most common solid cancers in childhood.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti192 – 1921Q → H in WT5. 1 Publication
VAR_022419

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi601583. phenotype.
Orphaneti654. Nephroblastoma.
PharmGKBiPA134969420.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 691691POU domain, class 6, transcription factor 2PRO_0000100762Add
BLAST

Proteomic databases

PaxDbiP78424.
PRIDEiP78424.

PTM databases

PhosphoSiteiP78424.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiP78424.
CleanExiHS_POU6F2.
ExpressionAtlasiP78424. baseline.
GenevestigatoriP78424.

Organism-specific databases

HPAiHPA008699.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000395926.

Structurei

3D structure databases

ProteinModelPortaliP78424.
SMRiP78424. Positions 480-664.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini476 – 586111POU-specificPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi167 – 446280Gln-richAdd
BLAST
Compositional biasi197 – 29397Pro-richAdd
BLAST
Compositional biasi435 – 46127Ser-richAdd
BLAST

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
Contains 1 POU-specific domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG241882.
GeneTreeiENSGT00760000118935.
HOVERGENiHBG008230.
InParanoidiP78424.
KOiK09368.
OMAiFEARGNT.
OrthoDBiEOG7353Z3.
PhylomeDBiP78424.
TreeFamiTF350705.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 2 hits.
InterProiIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR000327. POU_specific.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF00157. Pou. 2 hits.
[Graphical view]
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 2 hits.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P78424-1) [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
MSALLQDPMI AGQVSKPLLS VRSEMNAELR GEDKAATSDS ELNEPLLAPV
60 70 80 90 100
ESNDSEDTPS KLFGARGNPA LSDPGTPDQH QASQTHPPFP VGPQPLLTAQ
110 120 130 140 150
QLASAVAGVM PGGPPALNQP ILIPFNMAGQ LGGQQGLVLT LPTANLTNIQ
160 170 180 190 200
GLVAAAAAGG IMTLPLQNLQ ATSSLNSQLQ QLQLQLQQQQ QQQQQQPPPS
210 220 230 240 250
TNQHPQPAPQ APSQSQQQPL QPTPPQQPPP ASQQPPAPTS QLQQAPQPQQ
260 270 280 290 300
HQPHSHSQNQ NQPSPTQQSS SPPQKPSQSP GHGLPSPLTP PNPLQLVNNP
310 320 330 340 350
LASQAAAAAA AMSSIASSQA FGNALSSLQG VTGQLVTNAQ GQIIGTIPLM
360 370 380 390 400
PNPGPSSQAA SGTQGLQVQP ITPQLLTNAQ GQIIATVIGN QILPVINTQG
410 420 430 440 450
ITLSPIKPGQ QLHQPSQTSV GQAASQGNLL HLAHSQASMS QSPVRQASSS
460 470 480 490 500
SSSSSSSSAL SVGQLVSNPQ TAAGEVDGVN LEEIREFAKA FKIRRLSLGL
510 520 530 540 550
TQTQVGQALS ATEGPAYSQS AICRHTILRS HFFLPQEAQE NTIASSLTAK
560 570 580 590 600
LNPGLLYPAR FEKLDITPKS AQKIKPVLER WMAEAEARHR AGMQNLTEFI
610 620 630 640 650
GSEPSKKRKR RTSFTPQALE ILNAHFEKNT HPSGQEMTEI AEKLNYDREV
660 670 680 690
VRVWFCNKRQ ALKNTIKRLK QHEPATAVPL EPLTDSLEEN S

Note: Major isoform.

Length:691
Mass (Da):73,265
Last modified:April 5, 2011 - v3
Checksum:i3460C858ECBB5535
GO
Isoform 2 (identifier: P78424-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:655
Mass (Da):69,248
Checksum:iAB9FFB1A958C3978
GO

Sequence cautioni

The sequence AAB49727.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence AAB49728.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAS07475.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence EAL23992.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti196 – 1961Q → QQ in AAB49727. (PubMed:8601806)Curated
Sequence conflicti196 – 1961Q → QQ in AAB49728. (PubMed:8601806)Curated
Sequence conflicti258 – 2581Q → H in AAB49727. (PubMed:8601806)Curated
Sequence conflicti258 – 2581Q → H in AAB49728. (PubMed:8601806)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti192 – 1921Q → H in WT5. 1 Publication
VAR_022419
Natural varianti199 – 1991P → L.
Corresponds to variant rs2074936 [ dbSNP | Ensembl ].
VAR_028410
Natural varianti500 – 5001L → M.
Corresponds to variant rs4992268 [ dbSNP | Ensembl ].
VAR_028411
Natural varianti639 – 6391E → K.
Corresponds to variant rs7804851 [ dbSNP | Ensembl ].
VAR_028412

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei524 – 55936Missing in isoform 2. 1 PublicationVSP_002336Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS34620.2. [P78424-1]
CCDS55103.1. [P78424-2]
RefSeqiNP_001159490.1. NM_001166018.1. [P78424-2]
NP_009183.3. NM_007252.3. [P78424-1]
UniGeneiHs.137106.

Genome annotation databases

EnsembliENST00000403058; ENSP00000384004; ENSG00000106536. [P78424-1]
ENST00000518318; ENSP00000430514; ENSG00000106536. [P78424-2]
GeneIDi11281.
KEGGihsa:11281.
UCSCiuc003thb.2. human. [P78424-1]
uc022acb.1. human. [P78424-2]

Polymorphism databases

DMDMi327478564.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSi CCDS34620.2. [P78424-1 ]
CCDS55103.1. [P78424-2 ]
RefSeqi NP_001159490.1. NM_001166018.1. [P78424-2 ]
NP_009183.3. NM_007252.3. [P78424-1 ]
UniGenei Hs.137106.

3D structure databases

ProteinModelPortali P78424.
SMRi P78424. Positions 480-664.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000395926.

PTM databases

PhosphoSitei P78424.

Polymorphism databases

DMDMi 327478564.

Proteomic databases

PaxDbi P78424.
PRIDEi P78424.

Protocols and materials databases

DNASUi 11281.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000403058 ; ENSP00000384004 ; ENSG00000106536 . [P78424-1 ]
ENST00000518318 ; ENSP00000430514 ; ENSG00000106536 . [P78424-2 ]
GeneIDi 11281.
KEGGi hsa:11281.
UCSCi uc003thb.2. human. [P78424-1 ]
uc022acb.1. human. [P78424-2 ]

Organism-specific databases

CTDi 11281.
GeneCardsi GC07P039012.
HGNCi HGNC:21694. POU6F2.
HPAi HPA008699.
MIMi 601583. phenotype.
609062. gene.
neXtProti NX_P78424.
Orphaneti 654. Nephroblastoma.
PharmGKBi PA134969420.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG241882.
GeneTreei ENSGT00760000118935.
HOVERGENi HBG008230.
InParanoidi P78424.
KOi K09368.
OMAi FEARGNT.
OrthoDBi EOG7353Z3.
PhylomeDBi P78424.
TreeFami TF350705.

Miscellaneous databases

ChiTaRSi POU6F2. human.
GenomeRNAii 11281.
NextBioi 42945.
PROi P78424.
SOURCEi Search...

Gene expression databases

Bgeei P78424.
CleanExi HS_POU6F2.
ExpressionAtlasi P78424. baseline.
Genevestigatori P78424.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
1.10.260.40. 2 hits.
InterProi IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR000327. POU_specific.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF00157. Pou. 2 hits.
[Graphical view ]
PRINTSi PR00028. POUDOMAIN.
SMARTi SM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 2 hits.
PROSITEi PS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiPO6F2_HUMAN
AccessioniPrimary (citable) accession number: P78424
Secondary accession number(s): A4D1W2
, C4AMB9, P78425, Q75ME8, Q86UM6, Q9UDS7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 2003
Last sequence update: April 5, 2011
Last modified: October 29, 2014
This is version 135 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3