Reviewed, UniProtKB/Swiss-Prot P54821 (PRRX1_HUMAN)

Names and origin

Protein names

Recommended name:
    Paired mesoderm homeobox protein 1
Alternative name(s):
    Paired-related homeobox protein 1
      Short name=PRX-1
    Homeobox protein PHOX1

Gene names

Name:	PRRX1
Synonyms:	PMX1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	245 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript 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.
Sequence similarities	Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain. Contains 1 OAR domain.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	multicellular organismal development Inferred from electronic annotation. Source: InterPro regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: InterPro
Cellular component	nucleus Inferred from electronic annotation. Source: InterPro
Molecular function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro transcription coactivator activity Ref.3 Traceable author statement. Source: ProtInc transcription factor activity Inferred from electronic annotation. Source: InterPro
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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 245	245	Paired mesoderm homeobox protein 1		PRO_0000049251
Regions
	DNA binding	94 – 153	60	Homeobox
	Motif	222 – 235	14	OAR
Amino acid modifications
	Modified residue	197	1	Phosphoserine Potential
Natural variations
	Alternative sequence	200 – 245	46	SAMAT…VPTVN → RSSSLPRCCLHEGLHNGF in isoform PMX1-A.		VSP_002278

Sequences

	Sequence		Length	Mass (Da)
	Isoform PMX1-B [UniParc]. Last modified July 15, 1999. Version 2. Checksum: 7CA4B7FD9492FC19	FASTA	245	27,296
	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
	Isoform PMX1-A [UniParc]. Checksum: 2EE22A9078821642		217	24,396
	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 PRPAPRPTDY LSWGTASPYR SSSLPRCCLH EGLHNGF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"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).
[3]	"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).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	Z97200 Genomic DNA. No translation available. BC074993 mRNA. Translation: AAH74993.1. M95929 mRNA. Translation: AAA60085.1.
RefSeq	NP_008833.1. NP_073207.1.
UniGene	Hs.702224
3D structure databases
HSSP	HSSP built from PDB template 1FJL based on UniProtKB P06601.
ModBase	Search...
PTM databases
PhosphoSite	P54821.
Genome annotation databases
Ensembl	ENSG00000116132. Homo sapiens. [Contig view]
GeneID	5396.
KEGG	hsa:5396.
Organism-specific databases
H-InvDB	HIX0028796.
HGNC	HGNC:9142. PRRX1.
MIM	167420. gene.
PharmGKB	PA33466.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	P54821.
HOVERGEN	P54821.
Gene expression databases
ArrayExpress	P54821.
CleanEx	HS_PRRX1.
GermOnline	ENSG00000116132. Homo sapiens.
Family and domain databases
InterPro	IPR003654. Homeo_OAR. IPR001356. Homeobox. IPR012287. Homeodomain-rel. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
Pfam	PF00046. Homeobox. 1 hit. PF03826. OAR. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX.
ProDom	PD000010. Homeobox. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00389. HOX. 1 hit. [Graphical view]
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. PS50803. OAR. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	20925.
SOURCE	Search...

Entry information

Entry name

PRRX1_HUMAN

Accession

Primary (citable) accession number: P54821
Secondary accession number(s): O60807

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	July 15, 1999
Last modified:	November 25, 2008
This is version 76 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)