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Protein

Paired mesoderm homeobox protein 1

Gene

PRRX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
DNA bindingi94 – 153HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000116132-MONOMER.
SIGNORiP54821.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:9142. PRRX1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Agnathia-otocephaly complex (AGOTC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:202650
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066414113F → S in AGOTC. 1 PublicationCorresponds to variant rs387906667dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5396.
MalaCardsiPRRX1.
MIMi202650. phenotype.
OpenTargetsiENSG00000116132.
Orphaneti990. Agnathia - holoprosencephaly - situs inversus.
PharmGKBiPA33466.

Polymorphism and mutation databases

BioMutaiPRRX1.
DMDMi6174916.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000492511 – 245Paired mesoderm homeobox protein 1Add BLAST245

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei21PhosphoserineBy similarity1
Modified residuei160N6-acetyllysineBy similarity1
Modified residuei197PhosphoserineSequence analysis1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

PaxDbiP54821.
PeptideAtlasiP54821.
PRIDEiP54821.

PTM databases

iPTMnetiP54821.
PhosphoSitePlusiP54821.

Expressioni

Gene expression databases

BgeeiENSG00000116132.
CleanExiHS_PRRX1.
ExpressionAtlasiP54821. baseline and differential.
GenevisibleiP54821. HS.

Organism-specific databases

HPAiHPA051084.

Interactioni

Protein-protein interaction databases

BioGridi111405. 1 interactor.
STRINGi9606.ENSP00000239461.

Structurei

3D structure databases

ProteinModelPortaliP54821.
SMRiP54821.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi222 – 235OARPROSITE-ProRule annotationAdd BLAST14

Sequence similaritiesi

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG021349.
InParanoidiP54821.
KOiK09329.
OMAiMATYPPT.
OrthoDBiEOG091G0B1L.
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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_066414113F → S in AGOTC. 1 PublicationCorresponds to variant rs387906667dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002278200 – 245SAMAT…VPTVN → RSSSLPRCCLHEGLHNGF in isoform 2. 1 PublicationAdd BLAST46

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human. [P54821-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliP54821.
SMRiP54821.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111405. 1 interactor.
STRINGi9606.ENSP00000239461.

PTM databases

iPTMnetiP54821.
PhosphoSitePlusiP54821.

Polymorphism and mutation databases

BioMutaiPRRX1.
DMDMi6174916.

Proteomic databases

PaxDbiP54821.
PeptideAtlasiP54821.
PRIDEiP54821.

Protocols and materials databases

DNASUi5396.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000239461; ENSP00000239461; ENSG00000116132. [P54821-1]
ENST00000367760; ENSP00000356734; ENSG00000116132. [P54821-2]
GeneIDi5396.
KEGGihsa:5396.
UCSCiuc001ghe.4. human. [P54821-1]

Organism-specific databases

CTDi5396.
DisGeNETi5396.
GeneCardsiPRRX1.
HGNCiHGNC:9142. PRRX1.
HPAiHPA051084.
MalaCardsiPRRX1.
MIMi167420. gene.
202650. phenotype.
neXtProtiNX_P54821.
OpenTargetsiENSG00000116132.
Orphaneti990. Agnathia - holoprosencephaly - situs inversus.
PharmGKBiPA33466.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG021349.
InParanoidiP54821.
KOiK09329.
OMAiMATYPPT.
OrthoDBiEOG091G0B1L.
PhylomeDBiP54821.
TreeFamiTF351612.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000116132-MONOMER.
SIGNORiP54821.

Miscellaneous databases

ChiTaRSiPRRX1. human.
GeneWikiiPRRX1.
GenomeRNAii5396.
PROiP54821.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116132.
CleanExiHS_PRRX1.
ExpressionAtlasiP54821. baseline and differential.
GenevisibleiP54821. HS.

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]
ProtoNetiSearch...

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: November 2, 2016
This is version 151 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

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.