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Protein

POU domain, class 4, transcription factor 1

Gene

POU4F1

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

Functioni

Multifunctional transcription factor with different regions mediating its different effects. Acts by binding through its C-terminal domain to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of their target genes. Regulates the expression of specific genes involved in differentiation and survival within a subset of neuronal lineages. It has been shown that some of these genes require its N-terminal in order to be activated, maybe through a neuronal-specific cofactor. Ativates BCL2 expression and protect neuronal cells from apoptosis, through the N-terminal domain. Induces neuronal process outgrowth and the coordinate expression of genes encoding synaptic proteins. Exerts its major developmental effects in somatosensory neurons and in brainstem nuclei involved in motor control. May positively regulate POU4F2 and POU4F3. Regulates dorsal root ganglion sensory neuron specification and axonal projection into the spinal cord. Negatively regulates its own expression interacting directly with a highly conserved autoregulatory domain surrounding the transcription initiation site.By similarity
Isoform 2: Able to act as transcription factor, cannot regulate the expression of the same subset of genes than isoform 1. Does not have anitapoptotic effect on neuronal cells.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi356 – 415HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000152192-MONOMER.
ReactomeiR-HSA-6804759. Regulation of TP53 Activity through Association with Co-factors.
SIGNORiQ01851.

Names & Taxonomyi

Protein namesi
Recommended name:
POU domain, class 4, transcription factor 1Imported
Alternative name(s):
Brain-specific homeobox/POU domain protein 3A
Short name:
Brain-3A
Short name:
Brn-3A
Homeobox/POU domain protein RDC-1
Oct-T1
Gene namesi
Name:POU4F1Imported
Synonyms:BRN3A, RDC11 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:9218. POU4F1.

Subcellular locationi

  • Nucleus 1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi5457.
OpenTargetsiENSG00000152192.
PharmGKBiPA33542.

Polymorphism and mutation databases

BioMutaiPOU4F1.
DMDMi334302933.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001007361 – 419POU domain, class 4, transcription factor 1Add BLAST419

Proteomic databases

PaxDbiQ01851.
PeptideAtlasiQ01851.
PRIDEiQ01851.

PTM databases

iPTMnetiQ01851.
PhosphoSitePlusiQ01851.

Expressioni

Tissue specificityi

Expressed in the brain and the retina. Present in the developing brain, spinal cord and eye.2 Publications

Developmental stagei

Expression peaks early in embryogenesis (day 13.5) and is undetectable 14 days after birth.1 Publication

Gene expression databases

BgeeiENSG00000152192.
CleanExiHS_POU4F1.
GenevisibleiQ01851. HS.

Interactioni

Subunit structurei

Interacts (via N-terminus) with RIT2; the interation controls POU4F1 transactivation activity on some neuronal target genes.By similarity

Protein-protein interaction databases

BioGridi111453. 3 interactors.
STRINGi9606.ENSP00000366413.

Structurei

3D structure databases

ProteinModelPortaliQ01851.
SMRiQ01851.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini261 – 338POU-specificPROSITE-ProRule annotationAdd BLAST78

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi57 – 66POU-IV box10

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi100 – 108Poly-His9
Compositional biasi130 – 186Gly-richAdd BLAST57
Compositional biasi204 – 257Ala-richAdd BLAST54

Domaini

The C-terminal domain is able to act as both DNA-binding domain and a transcriptional activator. The N-terminal domain is also required for transactivation acitvitty on some target genes acting as a discrete activation domain. Neurite outgrowth and expression of genes required for synapse formation are primarily dependent on the C-terminal domain, however the N-terminal domain is required for maximal induction.By similarity

Sequence similaritiesi

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG1168. Eukaryota.
ENOG410XPNX. LUCA.
GeneTreeiENSGT00760000118935.
HOGENOMiHOG000116305.
HOVERGENiHBG031829.
InParanoidiQ01851.
KOiK09366.
OMAiKYTTLHS.
OrthoDBiEOG091G0WBK.
PhylomeDBiQ01851.
TreeFamiTF316413.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR000327. POU_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view]
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. 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. AlignAdd to basket

Isoform 1 (identifier: Q01851-1) [UniParc]FASTAAdd to basket
Also known as: Brn-3A-LongCurated

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
MMSMNSKQPH FAMHPTLPEH KYPSLHSSSE AIRRACLPTP PLQSNLFASL
60 70 80 90 100
DETLLARAEA LAAVDIAVSQ GKSHPFKPDA TYHTMNSVPC TSTSTVPLAH
110 120 130 140 150
HHHHHHHHQA LEPGDLLDHI SSPSLALMAG AGGAGAAAGG GGAHDGPGGG
160 170 180 190 200
GGPGGGGGPG GGPGGGGGGG PGGGGGGPGG GLLGGSAHPH PHMHSLGHLS
210 220 230 240 250
HPAAAAAMNM PSGLPHPGLV AAAAHHGAAA AAAAAAAGQV AAASAAAAVV
260 270 280 290 300
GAAGLASICD SDTDPRELEA FAERFKQRRI KLGVTQADVG SALANLKIPG
310 320 330 340 350
VGSLSQSTIC RFESLTLSHN NMIALKPILQ AWLEEAEGAQ REKMNKPELF
360 370 380 390 400
NGGEKKRKRT SIAAPEKRSL EAYFAVQPRP SSEKIAAIAE KLDLKKNVVR
410
VWFCNQRQKQ KRMKFSATY
Length:419
Mass (Da):42,697
Last modified:May 31, 2011 - v4
Checksum:i6EDC2A2082F95F23
GO
Isoform 2 (identifier: Q01851-2) [UniParc]FASTAAdd to basket
Also known as: Brn-3A-ShortCurated

The sequence of this isoform differs from the canonical sequence as follows:
     1-84: Missing.

Note: No experimental confirmation available.
Show »
Length:335
Mass (Da):33,491
Checksum:i55BFDC01E57E39FA
GO

Sequence cautioni

The sequence CAA45907 differs from that shown. Reason: Frameshift at several positions.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti91 – 92TS → H in CAA45907 (PubMed:1357630).Curated2
Sequence conflicti99A → R in AAA57161 (PubMed:7623109).Curated1
Sequence conflicti129A → AGAG in AAA57161 (PubMed:7623109).Curated1
Sequence conflicti146 – 147GP → AA in CAA45907 (PubMed:1357630).Curated2
Sequence conflicti152 – 153GP → PR in CAA45907 (PubMed:1357630).Curated2
Sequence conflicti159P → PG in AAA65605 (PubMed:8234287).Curated1
Sequence conflicti159P → PG in AAA57161 (PubMed:7623109).Curated1
Sequence conflicti159P → PG in CAA45907 (PubMed:1357630).Curated1
Sequence conflicti170 – 171GP → AA in CAA45907 (PubMed:1357630).Curated2
Sequence conflicti185G → A in CAA45907 (PubMed:1357630).Curated1
Sequence conflicti236A → S in AAA65605 (PubMed:8234287).Curated1
Sequence conflicti245Missing in CAA45907 (PubMed:1357630).Curated1
Sequence conflicti252A → R in CAA45907 (PubMed:1357630).Curated1
Sequence conflicti272 – 274AER → GS in CAA45907 (PubMed:1357630).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046449163Missing .1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0586361 – 84Missing in isoform 2. CuratedAdd BLAST84

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L20433 mRNA. Translation: AAA65605.1.
U10063, U10062 Genomic DNA. Translation: AAA57161.1.
AL445209 Genomic DNA. Translation: CAI15184.1.
CH471093 Genomic DNA. Translation: EAW80585.1.
X64624 mRNA. Translation: CAA45907.1. Frameshift.
CCDSiCCDS31996.1. [Q01851-1]
PIRiI59234.
S78452.
RefSeqiNP_006228.3. NM_006237.3.
UniGeneiHs.654522.

Genome annotation databases

EnsembliENST00000377208; ENSP00000366413; ENSG00000152192. [Q01851-1]
GeneIDi5457.
KEGGihsa:5457.
UCSCiuc001vkv.4. human. [Q01851-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L20433 mRNA. Translation: AAA65605.1.
U10063, U10062 Genomic DNA. Translation: AAA57161.1.
AL445209 Genomic DNA. Translation: CAI15184.1.
CH471093 Genomic DNA. Translation: EAW80585.1.
X64624 mRNA. Translation: CAA45907.1. Frameshift.
CCDSiCCDS31996.1. [Q01851-1]
PIRiI59234.
S78452.
RefSeqiNP_006228.3. NM_006237.3.
UniGeneiHs.654522.

3D structure databases

ProteinModelPortaliQ01851.
SMRiQ01851.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111453. 3 interactors.
STRINGi9606.ENSP00000366413.

PTM databases

iPTMnetiQ01851.
PhosphoSitePlusiQ01851.

Polymorphism and mutation databases

BioMutaiPOU4F1.
DMDMi334302933.

Proteomic databases

PaxDbiQ01851.
PeptideAtlasiQ01851.
PRIDEiQ01851.

Protocols and materials databases

DNASUi5457.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377208; ENSP00000366413; ENSG00000152192. [Q01851-1]
GeneIDi5457.
KEGGihsa:5457.
UCSCiuc001vkv.4. human. [Q01851-1]

Organism-specific databases

CTDi5457.
DisGeNETi5457.
GeneCardsiPOU4F1.
HGNCiHGNC:9218. POU4F1.
MIMi601632. gene.
neXtProtiNX_Q01851.
OpenTargetsiENSG00000152192.
PharmGKBiPA33542.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1168. Eukaryota.
ENOG410XPNX. LUCA.
GeneTreeiENSGT00760000118935.
HOGENOMiHOG000116305.
HOVERGENiHBG031829.
InParanoidiQ01851.
KOiK09366.
OMAiKYTTLHS.
OrthoDBiEOG091G0WBK.
PhylomeDBiQ01851.
TreeFamiTF316413.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000152192-MONOMER.
ReactomeiR-HSA-6804759. Regulation of TP53 Activity through Association with Co-factors.
SIGNORiQ01851.

Miscellaneous databases

GeneWikiiPOU4F1.
GenomeRNAii5457.
PROiQ01851.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152192.
CleanExiHS_POU4F1.
GenevisibleiQ01851. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR000327. POU_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view]
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPO4F1_HUMAN
AccessioniPrimary (citable) accession number: Q01851
Secondary accession number(s): Q14986, Q15318, Q5T227
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: May 31, 2011
Last modified: November 30, 2016
This is version 159 of the entry and version 4 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 13
    Human chromosome 13: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.