P54821 (PRRX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

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.
Protein existence	Evidence 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 component	Nucleus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	sequence-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 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
	Natural variant	113	1	F → S in AGOTC. Ref.5		VAR_066414

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	FASTA	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]	"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: 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. , 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.
IPI	IPI00008822. IPI00221036.
RefSeq	NP_008833.1. NM_006902.3. NP_073207.1. NM_022716.2.
UniGene	Hs.283416.
3D structure databases
ProteinModelPortal	P54821.
SMR	P54821. Positions 94-150.
ModBase	Search...
Protein-protein interaction databases
STRING	P54821.
Polymorphism databases
DMDM	6174916.
Proteomic databases
PRIDE	P54821.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000367760; ENSP00000356734; ENSG00000116132.
GeneID	5396.
KEGG	hsa:5396.
UCSC	uc001ghe.1. human. uc001ghf.1. human.
Organism-specific databases
CTD	5396.
GeneCards	GC01P170632.
HGNC	HGNC:9142. PRRX1.
MIM	167420. gene. 202650. phenotype.
neXtProt	NX_P54821.
Orphanet	990. Agnathia - holoprosencephaly - situs inversus.
PharmGKB	PA33466.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG11709.
GeneTree	ENSGT00600000084045.
HOGENOM	HBG717557.
HOVERGEN	HBG021349.
InParanoid	P54821.
OMA	MATYPPT.
OrthoDB	EOG4RR6J8.
PhylomeDB	P54821.
Gene expression databases
ArrayExpress	P54821.
Bgee	P54821.
CleanEx	HS_PRRX1.
Genevestigator	P54821.
GermOnline	ENSG00000116132. Homo sapiens.
Family and domain databases
InterPro	IPR003654. Homeo_OAR. IPR001356. Homeobox. IPR017970. Homeobox_CS. IPR009057. Homeodomain-like. IPR012287. Homeodomain-rel. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
KO	K09329.
Pfam	PF00046. Homeobox. 1 hit. PF03826. OAR. 1 hit. [Graphical view]
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. PS50803. OAR. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	20925.
SOURCE	Search...

Entry information

Entry name

PRRX1_HUMAN

Accession

Primary (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 status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.