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P54821 (PRRX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 107. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Paired mesoderm homeobox protein 1
Alternative name(s):
Homeobox protein PHOX1
Paired-related homeobox protein 1
Short name=PRX-1
Gene names
Name:PRRX1
Synonyms:PMX1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length245 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Nucleus.

Involvement in disease

Defects in PRRX1 are the cause of agnathia-otocephaly complex (AGOTC) [MIM:202650]. AGOTC is 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. Ref.5

Sequence similarities

Belongs to the paired homeobox family.

Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological processmulticellular organismal development

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionsequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

transcription coactivator activity

Traceable author statement. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform PMX1-B (identifier: P54821-1)

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.
Isoform PMX1-A (identifier: P54821-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 245245Paired mesoderm homeobox protein 1
PRO_0000049251

Regions

DNA binding94 – 15360Homeobox
Motif222 – 23514OAR

Amino acid modifications

Modified residue1971Phosphoserine Potential

Natural variations

Alternative sequence200 – 24546SAMAT…VPTVN → RSSSLPRCCLHEGLHNGF in isoform PMX1-A.
VSP_002278
Natural variant1131F → S in AGOTC. Ref.5
VAR_066414

Sequences

Sequence LengthMass (Da)Tools
Isoform PMX1-B [UniParc].

Last modified July 15, 1999. Version 2.
Checksum: 7CA4B7FD9492FC19

FASTA24527,296
        10         20         30         40         50         60 
MTSSYGHVLE RQPALGGRLD SPGNLDTLQA KKNFSVSHLL DLEEAGDMVA AQADENVGEA 

        70         80         90        100        110        120 
GRSLLESPGL TSGSDTPQQD NDQLNSEEKK KRKQRRNRTT FNSSQLQALE RVFERTHYPD 

       130        140        150        160        170        180 
AFVREDLARR VNLTEARVQV WFQNRRAKFR RNERAMLANK NASLLKSYSG DVTAVEQPIV 

       190        200        210        220        230        240 
PRPAPRPTDY LSWGTASPYS AMATYSATCA NNSPAQGINM ANSIANLRLK AKEYSLQRNQ 


VPTVN 

« Hide

Isoform PMX1-A [UniParc].

Checksum: 2EE22A9078821642
Show »

FASTA21724,396

References

« Hide 'large scale' references
[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. expand/collapse author list , 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: 19054851] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM PMX1-B).
[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. expand/collapse author list , 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: 16710414] [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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM PMX1-B).
[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: 1509260] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 19-197 (ISOFORM PMX1-A).
[5]"PRRX1 is mutated in a fetus with agnathia-otocephaly."
Sergi C., Kamnasaran D.
Clin. Genet. 79:293-295(2011) [PubMed: 21294718] [Abstract]
Cited for: VARIANT AGOTC SER-113.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB451463 mRNA. Translation: BAG70277.1.
Z97200 Genomic DNA. No translation available.
BC074993 mRNA. Translation: AAH74993.1.
M95929 mRNA. Translation: AAA60085.1.
IPIIPI00008822.
IPI00221036.
RefSeqNP_008833.1. NM_006902.3.
NP_073207.1. NM_022716.2.
UniGeneHs.283416.

3D structure databases

ProteinModelPortalP54821.
SMRP54821. Positions 94-150.
ModBaseSearch...

Protein-protein interaction databases

STRINGP54821.

Polymorphism databases

DMDM6174916.

Proteomic databases

PRIDEP54821.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000367760; ENSP00000356734; ENSG00000116132.
GeneID5396.
KEGGhsa:5396.
UCSCuc001ghe.1. human.
uc001ghf.1. human.

Organism-specific databases

CTD5396.
GeneCardsGC01P170632.
HGNCHGNC:9142. PRRX1.
MIM167420. gene.
202650. phenotype.
neXtProtNX_P54821.
Orphanet990. Agnathia - holoprosencephaly - situs inversus.
PharmGKBPA33466.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG11709.
GeneTreeENSGT00600000084045.
HOGENOMHBG717557.
HOVERGENHBG021349.
InParanoidP54821.
OMAMATYPPT.
OrthoDBEOG4RR6J8.
PhylomeDBP54821.

Gene expression databases

ArrayExpressP54821.
BgeeP54821.
CleanExHS_PRRX1.
GenevestigatorP54821.
GermOnlineENSG00000116132. Homo sapiens.

Family and domain databases

InterProIPR003654. Homeo_OAR.
IPR001356. Homeobox.
IPR017970. Homeobox_CS.
IPR009057. Homeodomain-like.
IPR012287. Homeodomain-rel.
[Graphical view]
Gene3DG3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
KOK09329.
PfamPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. Homeodomain_like. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio20925.
SOURCESearch...

Entry information

Entry namePRRX1_HUMAN
AccessionPrimary (citable) accession number: P54821
Secondary accession number(s): B5BUM7, O60807
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 15, 1999
Last modified: January 25, 2012
This is version 107 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families