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P54821

- PRRX1_HUMAN

UniProt

P54821 - PRRX1_HUMAN

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Protein

Paired mesoderm homeobox protein 1

Gene

PRRX1

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

Functioni

Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi94 – 15360HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro
  2. transcription coactivator activity Source: ProtInc

GO - Biological processi

  1. artery morphogenesis Source: Ensembl
  2. cartilage development Source: Ensembl
  3. embryonic cranial skeleton morphogenesis Source: Ensembl
  4. embryonic limb morphogenesis Source: Ensembl
  5. inner ear morphogenesis Source: Ensembl
  6. middle ear morphogenesis Source: Ensembl
  7. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  8. palate development Source: Ensembl
  9. positive regulation of mesenchymal cell proliferation Source: Ensembl
  10. positive regulation of smoothened signaling pathway Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Paired mesoderm homeobox protein 1
Alternative name(s):
Homeobox protein PHOX1
Paired-related homeobox protein 1
Short name:
PRX-1
Gene namesi
Name:PRRX1
Synonyms:PMX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:9142. PRRX1.

Subcellular locationi

GO - Cellular componenti

  1. nucleolus Source: HPA
  2. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Agnathia-otocephaly complex (AGOTC) [MIM:202650]: A rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti113 – 1131F → S in AGOTC. 1 Publication
VAR_066414

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi202650. phenotype.
Orphaneti990. Agnathia - holoprosencephaly - situs inversus.
PharmGKBiPA33466.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 245245Paired mesoderm homeobox protein 1PRO_0000049251Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei160 – 1601N6-acetyllysineBy similarity
Modified residuei197 – 1971PhosphoserineSequence Analysis

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

PaxDbiP54821.
PRIDEiP54821.

PTM databases

PhosphoSiteiP54821.

Expressioni

Gene expression databases

BgeeiP54821.
CleanExiHS_PRRX1.
ExpressionAtlasiP54821. baseline and differential.
GenevestigatoriP54821.

Organism-specific databases

HPAiHPA051084.

Interactioni

Protein-protein interaction databases

BioGridi111405. 1 interaction.
STRINGi9606.ENSP00000356734.

Structurei

3D structure databases

ProteinModelPortaliP54821.
SMRiP54821. Positions 94-150.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi222 – 23514OARAdd
BLAST

Sequence similaritiesi

Belongs to the paired homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG267226.
GeneTreeiENSGT00760000118908.
HOGENOMiHOG000231518.
HOVERGENiHBG021349.
InParanoidiP54821.
KOiK09329.
OMAiWGSAAPY.
PhylomeDBiP54821.
TreeFamiTF351612.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P54821-1) [UniParc]FASTAAdd to Basket

Also known as: PMX1-B

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
MTSSYGHVLE RQPALGGRLD SPGNLDTLQA KKNFSVSHLL DLEEAGDMVA
60 70 80 90 100
AQADENVGEA GRSLLESPGL TSGSDTPQQD NDQLNSEEKK KRKQRRNRTT
110 120 130 140 150
FNSSQLQALE RVFERTHYPD AFVREDLARR VNLTEARVQV WFQNRRAKFR
160 170 180 190 200
RNERAMLANK NASLLKSYSG DVTAVEQPIV PRPAPRPTDY LSWGTASPYS
210 220 230 240
AMATYSATCA NNSPAQGINM ANSIANLRLK AKEYSLQRNQ VPTVN
Length:245
Mass (Da):27,296
Last modified:July 15, 1999 - v2
Checksum:i7CA4B7FD9492FC19
GO
Isoform 2 (identifier: P54821-2) [UniParc]FASTAAdd to Basket

Also known as: PMX1-A

The sequence of this isoform differs from the canonical sequence as follows:
     200-245: SAMATYSATCANNSPAQGINMANSIANLRLKAKEYSLQRNQVPTVN → RSSSLPRCCLHEGLHNGF

Show »
Length:217
Mass (Da):24,396
Checksum:i2EE22A9078821642
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti113 – 1131F → S in AGOTC. 1 Publication
VAR_066414

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei200 – 24546SAMAT…VPTVN → RSSSLPRCCLHEGLHNGF in isoform 2. 1 PublicationVSP_002278Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB451463 mRNA. Translation: BAG70277.1.
Z97200 Genomic DNA. No translation available.
BC074993 mRNA. Translation: AAH74993.1.
M95929 mRNA. Translation: AAA60085.1.
CCDSiCCDS1290.1. [P54821-1]
CCDS1291.1. [P54821-2]
RefSeqiNP_008833.1. NM_006902.4. [P54821-2]
NP_073207.1. NM_022716.3. [P54821-1]
UniGeneiHs.283416.

Genome annotation databases

EnsembliENST00000239461; ENSP00000239461; ENSG00000116132. [P54821-1]
ENST00000367760; ENSP00000356734; ENSG00000116132. [P54821-2]
GeneIDi5396.
KEGGihsa:5396.
UCSCiuc001ghe.3. human. [P54821-2]
uc001ghf.3. human. [P54821-1]

Polymorphism databases

DMDMi6174916.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB451463 mRNA. Translation: BAG70277.1 .
Z97200 Genomic DNA. No translation available.
BC074993 mRNA. Translation: AAH74993.1 .
M95929 mRNA. Translation: AAA60085.1 .
CCDSi CCDS1290.1. [P54821-1 ]
CCDS1291.1. [P54821-2 ]
RefSeqi NP_008833.1. NM_006902.4. [P54821-2 ]
NP_073207.1. NM_022716.3. [P54821-1 ]
UniGenei Hs.283416.

3D structure databases

ProteinModelPortali P54821.
SMRi P54821. Positions 94-150.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111405. 1 interaction.
STRINGi 9606.ENSP00000356734.

PTM databases

PhosphoSitei P54821.

Polymorphism databases

DMDMi 6174916.

Proteomic databases

PaxDbi P54821.
PRIDEi P54821.

Protocols and materials databases

DNASUi 5396.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000239461 ; ENSP00000239461 ; ENSG00000116132 . [P54821-1 ]
ENST00000367760 ; ENSP00000356734 ; ENSG00000116132 . [P54821-2 ]
GeneIDi 5396.
KEGGi hsa:5396.
UCSCi uc001ghe.3. human. [P54821-2 ]
uc001ghf.3. human. [P54821-1 ]

Organism-specific databases

CTDi 5396.
GeneCardsi GC01P170632.
HGNCi HGNC:9142. PRRX1.
HPAi HPA051084.
MIMi 167420. gene.
202650. phenotype.
neXtProti NX_P54821.
Orphaneti 990. Agnathia - holoprosencephaly - situs inversus.
PharmGKBi PA33466.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG267226.
GeneTreei ENSGT00760000118908.
HOGENOMi HOG000231518.
HOVERGENi HBG021349.
InParanoidi P54821.
KOi K09329.
OMAi WGSAAPY.
PhylomeDBi P54821.
TreeFami TF351612.

Miscellaneous databases

ChiTaRSi PRRX1. human.
GeneWikii PRRX1.
GenomeRNAii 5396.
NextBioi 20925.
PROi P54821.
SOURCEi Search...

Gene expression databases

Bgeei P54821.
CleanExi HS_PRRX1.
ExpressionAtlasi P54821. baseline and differential.
Genevestigatori P54821.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view ]
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human protein factory for converting the transcriptome into an in vitro-expressed proteome."
    Goshima N., Kawamura Y., Fukumoto A., Miura A., Honma R., Satoh R., Wakamatsu A., Yamamoto J., Kimura K., Nishikawa T., Andoh T., Iida Y., Ishikawa K., Ito E., Kagawa N., Kaminaga C., Kanehori K., Kawakami B.
    , Kenmochi K., Kimura R., Kobayashi M., Kuroita T., Kuwayama H., Maruyama Y., Matsuo K., Minami K., Mitsubori M., Mori M., Morishita R., Murase A., Nishikawa A., Nishikawa S., Okamoto T., Sakagami N., Sakamoto Y., Sasaki Y., Seki T., Sono S., Sugiyama A., Sumiya T., Takayama T., Takayama Y., Takeda H., Togashi T., Yahata K., Yamada H., Yanagisawa Y., Endo Y., Imamoto F., Kisu Y., Tanaka S., Isogai T., Imai J., Watanabe S., Nomura N.
    Nat. Methods 5:1011-1017(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "Human and Drosophila homeodomain proteins that enhance the DNA-binding activity of serum response factor."
    Grueneberg D.A., Natesan S., Alexandre C., Gilman M.Z.
    Science 257:1089-1095(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 19-197 (ISOFORM 2).
  5. "PRRX1 is mutated in a fetus with agnathia-otocephaly."
    Sergi C., Kamnasaran D.
    Clin. Genet. 79:293-295(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AGOTC SER-113.

Entry informationi

Entry nameiPRRX1_HUMAN
AccessioniPrimary (citable) accession number: P54821
Secondary accession number(s): B5BUM7, O60807
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 15, 1999
Last modified: October 29, 2014
This is version 133 of the entry and version 2 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 1
    Human chromosome 1: 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