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UniProtKB - 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: -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)DescriptionActionsGraphical viewLength
DNA bindingi607 – 666HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • central nervous system development Source: ProtInc
  • ganglion mother cell fate determination Source: ProtInc
  • regulation of transcription, DNA-templated Source: UniProtKB
  • transcription by RNA polymerase II Source: ProtInc
  • visual perception Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000106536.19
HGNCiHGNC:21694 POU6F2
MIMi609062 gene
neXtProtiNX_P78424

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Hereditary susceptibility to Wilms tumor 5 (WT5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionPediatric malignancy of kidney and one of the most common solid cancers in childhood.
See also OMIM:601583
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022419192Q → H in WT5. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi11281
MalaCardsiPOU6F2
MIMi601583 phenotype
OpenTargetsiENSG00000106536
Orphaneti654 Nephroblastoma
PharmGKBiPA134969420

Polymorphism and mutation databases

BioMutaiPOU6F2
DMDMi327478564

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001007621 – 691POU domain, class 6, transcription factor 2Add BLAST691

Proteomic databases

PaxDbiP78424
PeptideAtlasiP78424
PRIDEiP78424
ProteomicsDBi57623
57624 [P78424-2]

PTM databases

iPTMnetiP78424
PhosphoSitePlusiP78424

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

BgeeiENSG00000106536
CleanExiHS_POU6F2
ExpressionAtlasiP78424 baseline and differential
GenevisibleiP78424 HS

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi116437, 1 interactor
IntActiP78424, 141 interactors
STRINGi9606.ENSP00000384004

Structurei

3D structure databases

ProteinModelPortaliP78424
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini476 – 586POU-specificPROSITE-ProRule annotationAdd BLAST111

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi167 – 446Gln-richAdd BLAST280
Compositional biasi197 – 293Pro-richAdd BLAST97
Compositional biasi435 – 461Ser-richAdd BLAST27

Sequence similaritiesi

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG3802 Eukaryota
ENOG410XQ7X LUCA
GeneTreeiENSGT00920000149093
HOVERGENiHBG008230
InParanoidiP78424
KOiK09368
OMAiGTPDQHQ
OrthoDBiEOG091G04YJ
PhylomeDBiP78424
TreeFamiTF350705

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR010982 Lambda_DNA-bd_dom_sf
IPR013847 POU
IPR033056 POU6F2
IPR000327 POU_dom
PANTHERiPTHR11636:SF68 PTHR11636:SF68, 1 hit
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF00157 Pou, 2 hits
PRINTSiPR00028 POUDOMAIN
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00352 POU, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
SSF47413 SSF47413, 2 hits
PROSITEiView protein in PROSITE
PS50071 HOMEOBOX_2, 1 hit
PS00035 POU_1, 1 hit
PS00465 POU_2, 1 hit
PS51179 POU_3, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti196Q → QQ in AAB49727 (PubMed:8601806).Curated1
Sequence conflicti196Q → QQ in AAB49728 (PubMed:8601806).Curated1
Sequence conflicti258Q → H in AAB49727 (PubMed:8601806).Curated1
Sequence conflicti258Q → H in AAB49728 (PubMed:8601806).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022419192Q → H in WT5. 1 Publication1
Natural variantiVAR_028410199P → L. Corresponds to variant dbSNP:rs2074936Ensembl.1
Natural variantiVAR_028411500L → M. Corresponds to variant dbSNP:rs4992268Ensembl.1
Natural variantiVAR_028412639E → K. Corresponds to variant dbSNP:rs7804851Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002336524 – 559Missing in isoform 2. 1 PublicationAdd BLAST36

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.3 human [P78424-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiPO6F2_HUMAN
AccessioniPrimary (citable) accession number: P78424
Secondary accession number(s): A4D1W2
, C4AMB9, P78425, Q75ME8, Q86UM6, Q9UDS7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2003
Last sequence update: April 5, 2011
Last modified: July 18, 2018
This is version 166 of the entry and version 3 of the sequence. See 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

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