Reviewed, UniProtKB/Swiss-Prot P15863 (PAX1_HUMAN)

Names and origin

Protein names

Recommended name:
    Paired box protein Pax-1
Alternative name(s):
    HUP48

Gene names

Name:	PAX1
Synonyms:	HUP48

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	440 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column By similarity.
Subcellular location	Nucleus.
Sequence similarities	Contains 1 paired domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Paired box
Ligand	DNA-binding
Molecular function	Activator Developmental protein
Gene Ontology (GO)
Biological process	transcription from RNA polymerase II promoter Traceable author statement. Source: ProtInc
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P15863-1)

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 2 (identifier: P15863-2)

The sequence of this isoform differs from the canonical sequence as follows:
     330-361: PSREGSLPAPAARPRTPSVAYTDCPSRPRPPR → REGTDRKPPSSGSKAPDALSSLHGLPIPASTS
     362-440: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 440	440	Paired box protein Pax-1		PRO_0000050172
Regions
	Domain	4 – 130	127	Paired
Natural variations
	Alternative sequence	330 – 361	32	PSREG…PRPPR → REGTDRKPPSSGSKAPDALS SLHGLPIPASTS in isoform 2.		VSP_012986
	Alternative sequence	362 – 440	79	Missing in isoform 2.		VSP_012987
	Natural variant	45	1	Q → H in a patient with neural tube defects, but not clearly linked to the disease. Ref.5		VAR_003787
	Natural variant	345	1	T → R: dbSNP rs17861058.		VAR_055369
	Natural variant	359	1	P → L: dbSNP rs17861059.		VAR_055370
	Natural variant	410	1	P → L: dbSNP rs17861061.		VAR_055371
Experimental info
	Sequence conflict	1	1	M → A in CAA33146. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2005. Version 3. Checksum: 500B7155C81616F9	FASTA	440	46,295
	10 20 30 40 50 60 MEQTYGEVNQ LGGVFVNGRP LPNAIRLRIV ELAQLGIRPC DISRQLRVSH GCVSKILARY 70 80 90 100 110 120 NETGSILPGA IGGSKPRVTT PNVVKHIRDY KQGDPGIFAW EIRDRLLADG VCDKYNVPSV 130 140 150 160 170 180 SSISRILRNK IGSLAQPGPY EASKQPPSQP TLPYNHIYQY PYPSPVSPTG AKMGSHPGVP 190 200 210 220 230 240 GTAGHVSIPR SWPSAHSVSN ILGIRTFMEQ TGALAGSEGT AYSPKMEDWA GVNRTAFPAT 250 260 270 280 290 300 PAVNGLEKPA LEADIKYTQS ASTLSAVGGF LPACAYPASN QHGVYSAPGG GYLAPGPPWP 310 320 330 340 350 360 PAQGPPLAPP GAGVAVHGGE LAAAMTFKHP SREGSLPAPA ARPRTPSVAY TDCPSRPRPP 370 380 390 400 410 420 RGSSPRTRAR RERQADPGAQ VCAAAPAIGT GRIGGLAEEE ASAGPRGARP ASPQAQPCLW 430 440 PDPPHFLYWS GFLGFSELGF
	Isoform 2. Checksum: 03B85D83A00D86E1	FASTA	361	37,825
	10 20 30 40 50 60 MEQTYGEVNQ LGGVFVNGRP LPNAIRLRIV ELAQLGIRPC DISRQLRVSH GCVSKILARY 70 80 90 100 110 120 NETGSILPGA IGGSKPRVTT PNVVKHIRDY KQGDPGIFAW EIRDRLLADG VCDKYNVPSV 130 140 150 160 170 180 SSISRILRNK IGSLAQPGPY EASKQPPSQP TLPYNHIYQY PYPSPVSPTG AKMGSHPGVP 190 200 210 220 230 240 GTAGHVSIPR SWPSAHSVSN ILGIRTFMEQ TGALAGSEGT AYSPKMEDWA GVNRTAFPAT 250 260 270 280 290 300 PAVNGLEKPA LEADIKYTQS ASTLSAVGGF LPACAYPASN QHGVYSAPGG GYLAPGPPWP 310 320 330 340 350 360 PAQGPPLAPP GAGVAVHGGE LAAAMTFKHR EGTDRKPPSS GSKAPDALSS LHGLPIPAST S

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	NIEHS SNPs program Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-345; LEU-359 AND LEU-410.
[2]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [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 1).
[4]	"Conservation of the paired domain in metazoans and its structure in three isolated human genes." Burri M., Tromvoukis Y., Bopp D., Frigerio G., Noll M. EMBO J. 8:1183-1190(1989) [PubMed: 2501086] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-142.
[5]	"PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida." Hol F.A., Geurds M.P.A., Chatkupt S., Shugart Y.Y., Balling R., Schrander-Stumpel C.T.R.M., Johnson W.G., Hamel B.C.J., Mariman E.C.M. J. Med. Genet. 33:655-660(1996) [PubMed: 8863157] [Abstract] Cited for: VARIANT HIS-45.
+	Additional computationally mapped references.

Web resources

NIEHS-SNPs

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY740018 Genomic DNA. Translation: AAU21037.1. AL035562 Genomic DNA. Translation: CAB46996.1. BC069134 mRNA. Translation: AAH69134.1. X15044 Genomic DNA. Translation: CAA33146.1. Different initiation.
IPI	IPI00013473. IPI00419577.
PIR	S06961.
UniGene	Hs.349082
3D structure databases
HSSP	HSSP built from PDB template 1K78 based on UniProtKB Q02548.
SMR	P15863. Positions 8-130.
ModBase	Search...
Proteomic databases
PRIDE	P15863.
Genome annotation databases
Ensembl	ENSG00000125813. Homo sapiens. [Contig view]
Organism-specific databases
GeneCards	GC20P021634.
HGNC	HGNC:8615. PAX1.
MIM	167411. gene.
PharmGKB	PA32955.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P15863.
HOVERGEN	P15863.
Gene expression databases
ArrayExpress	P15863.
Bgee	P15863.
CleanEx	HS_PAX1.
GermOnline	ENSG00000125813. Homo sapiens.
Family and domain databases
InterPro	IPR001523. Paired_box_N. IPR011991. Wing_hlx_DNA_bd. [Graphical view]
Gene3D	G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 2 hits.
Pfam	PF00292. PAX. 1 hit. [Graphical view]
PRINTS	PR00027. PAIREDBOX.
SMART	SM00351. PAX. 1 hit. [Graphical view]
PROSITE	PS00034. PAIRED_1. 1 hit. PS51057. PAIRED_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	19556.
SOURCE	Search...

Entry information

Entry name

PAX1_HUMAN

Accession

Primary (citable) accession number: P15863
Secondary accession number(s): Q642X9, Q6NTC0, Q9Y558

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	March 1, 2005
Last modified:	June 16, 2009
This is version 87 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)