P15863 (PAX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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	534 AA.
Sequence status	Complete.
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.
Sequence caution	The sequence AAH69134.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAU21037.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

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
Technical term	Complete proteome Reference proteome
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 3 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:
     1-95: MKFTLGLGSR...ARQLAGPLAM → MRRAPLRGSS...SGSLLSGASA
     428-534: GSLPAPAARP...GFLGFSELGF → VADRKPPSSGSKAPDALSSLHGLPIPASTS

Isoform 3 (identifier: P15863-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: MKFTLGLGSR...ARQLAGPLAM → MRRAPLRGSS...SGSLLSGASA

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 534	534	Paired box protein Pax-1		PRO_0000050172
Regions
	Domain	98 – 224	127	Paired
Natural variations
	Alternative sequence	1 – 95	95	MKFTL…GPLAM → MRRAPLRGSSAPLPTPSQTQ AVCPWTPSCLGTHRSPLEVR LGAVPRSAWGPLANPPGVFS PSGSLLSGASA in isoform 2 and isoform 3.		VSP_039095
	Alternative sequence	428 – 534	107	GSLPA…SELGF → VADRKPPSSGSKAPDALSSL HGLPIPASTS in isoform 2.		VSP_039096
	Natural variant	139	1	Q → H in a patient with neural tube defects, but not clearly linked to the disease. Ref.6		VAR_003787
	Natural variant	439	1	T → R. Ref.2 Corresponds to variant rs17861058 [ dbSNP | Ensembl ].		VAR_055369
	Natural variant	453	1	P → L. Ref.2 Corresponds to variant rs17861059 [ dbSNP | Ensembl ].		VAR_055370
	Natural variant	504	1	P → L. Ref.2 Corresponds to variant rs17861061 [ dbSNP | Ensembl ].		VAR_055371

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 4. Checksum: 6B06A2AD302FDEEA	FASTA	534	55,499
	10 20 30 40 50 60 MKFTLGLGSR AWRVSWEGAA AAAAGPGAGG SALRCRAQRV SSPRLGRRGS RLSGALPLCL 70 80 90 100 110 120 SRGGGGAQAL PDCAGPSPGH PGHPGARQLA GPLAMEQTYG EVNQLGGVFV NGRPLPNAIR 130 140 150 160 170 180 LRIVELAQLG IRPCDISRQL RVSHGCVSKI LARYNETGSI LPGAIGGSKP RVTTPNVVKH 190 200 210 220 230 240 IRDYKQGDPG IFAWEIRDRL LADGVCDKYN VPSVSSISRI LRNKIGSLAQ PGPYEASKQP 250 260 270 280 290 300 PSQPTLPYNH IYQYPYPSPV SPTGAKMGSH PGVPGTAGHV SIPRSWPSAH SVSNILGIRT 310 320 330 340 350 360 FMEQTGALAG SEGTAYSPKM EDWAGVNRTA FPATPAVNGL EKPALEADIK YTQSASTLSA 370 380 390 400 410 420 VGGFLPACAY PASNQHGVYS APGGGYLAPG PPWPPAQGPP LAPPGAGVAV HGGELAAAMT 430 440 450 460 470 480 FKHPSREGSL PAPAARPRTP SVAYTDCPSR PRPPRGSSPR TRARRERQAD PGAQVCAAAP 490 500 510 520 530 AIGTGRIGGL AEEEASAGPR GARPASPQAQ PCLWPDPPHF LYWSGFLGFS ELGF
	Isoform 2 [UniParc]. Checksum: 0C7B15EABE3BC79E	FASTA	433	45,118
	10 20 30 40 50 60 MRRAPLRGSS APLPTPSQTQ AVCPWTPSCL GTHRSPLEVR LGAVPRSAWG PLANPPGVFS 70 80 90 100 110 120 PSGSLLSGAS AEQTYGEVNQ LGGVFVNGRP LPNAIRLRIV ELAQLGIRPC DISRQLRVSH 130 140 150 160 170 180 GCVSKILARY NETGSILPGA IGGSKPRVTT PNVVKHIRDY KQGDPGIFAW EIRDRLLADG 190 200 210 220 230 240 VCDKYNVPSV SSISRILRNK IGSLAQPGPY EASKQPPSQP TLPYNHIYQY PYPSPVSPTG 250 260 270 280 290 300 AKMGSHPGVP GTAGHVSIPR SWPSAHSVSN ILGIRTFMEQ TGALAGSEGT AYSPKMEDWA 310 320 330 340 350 360 GVNRTAFPAT PAVNGLEKPA LEADIKYTQS ASTLSAVGGF LPACAYPASN QHGVYSAPGG 370 380 390 400 410 420 GYLAPGPPWP PAQGPPLAPP GAGVAVHGGE LAAAMTFKHP SREVADRKPP SSGSKAPDAL 430 SSLHGLPIPA STS
	Isoform 3 [UniParc]. Checksum: 0EB46FE06D86D72E	FASTA	510	53,393
	10 20 30 40 50 60 MRRAPLRGSS APLPTPSQTQ AVCPWTPSCL GTHRSPLEVR LGAVPRSAWG PLANPPGVFS 70 80 90 100 110 120 PSGSLLSGAS AEQTYGEVNQ LGGVFVNGRP LPNAIRLRIV ELAQLGIRPC DISRQLRVSH 130 140 150 160 170 180 GCVSKILARY NETGSILPGA IGGSKPRVTT PNVVKHIRDY KQGDPGIFAW EIRDRLLADG 190 200 210 220 230 240 VCDKYNVPSV SSISRILRNK IGSLAQPGPY EASKQPPSQP TLPYNHIYQY PYPSPVSPTG 250 260 270 280 290 300 AKMGSHPGVP GTAGHVSIPR SWPSAHSVSN ILGIRTFMEQ TGALAGSEGT AYSPKMEDWA 310 320 330 340 350 360 GVNRTAFPAT PAVNGLEKPA LEADIKYTQS ASTLSAVGGF LPACAYPASN QHGVYSAPGG 370 380 390 400 410 420 GYLAPGPPWP PAQGPPLAPP GAGVAVHGGE LAAAMTFKHP SREGSLPAPA ARPRTPSVAY 430 440 450 460 470 480 TDCPSRPRPP RGSSPRTRAR RERQADPGAQ VCAAAPAIGT GRIGGLAEEE ASAGPRGARP 490 500 510 ASPQAQPCLW PDPPHFLYWS GFLGFSELGF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Thymus.
[2]	NIEHS SNPs program Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3), VARIANTS ARG-439; LEU-453 AND LEU-504.
[3]	"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].
[4]	"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] OF 95-534 (ISOFORM 1).
[5]	"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: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2/3).
[6]	"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-139.
+	Additional computationally mapped references.

Web resources

NIEHS-SNPs

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK303335 mRNA. Translation: BAG64398.1. AY740018 Genomic DNA. Translation: AAU21037.1. Different initiation. AL035562 Genomic DNA. Translation: CAX12115.1. AL035562 Genomic DNA. Translation: CAB46996.2. BC069134 mRNA. Translation: AAH69134.1. Different initiation. X15044 Genomic DNA. Translation: CAA33146.1.
IPI	IPI00013473. IPI00419577. IPI00963849.
PIR	S06961.
RefSeq	NP_006183.2. NM_006192.3.
UniGene	Hs.349082.
3D structure databases
ProteinModelPortal	P15863.
SMR	P15863. Positions 102-224.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-202824.
STRING	P15863.
Polymorphism databases
DMDM	296439493.
Proteomic databases
PRIDE	P15863.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000377123; ENSP00000366327; ENSG00000125813. ENST00000398485; ENSP00000381499; ENSG00000125813.
GeneID	5075.
KEGG	hsa:5075.
UCSC	uc002wsj.2. human.
Organism-specific databases
CTD	5075.
GeneCards	GC20P021634.
H-InvDB	HIX0040597.
HGNC	HGNC:8615. PAX1.
MIM	167411. gene.
neXtProt	NX_P15863.
PharmGKB	PA32955.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG05518.
GeneTree	ENSGT00600000084204.
HOGENOM	HBG716959.
HOVERGEN	HBG009115.
InParanoid	P15863.
OMA	AMAFKHP.
OrthoDB	EOG4W6NW9.
PhylomeDB	P15863.
Gene expression databases
ArrayExpress	P15863.
Bgee	P15863.
CleanEx	HS_PAX1.
Genevestigator	P15863.
GermOnline	ENSG00000125813. Homo sapiens.
Family and domain databases
InterPro	IPR009057. Homeodomain-like. IPR001523. Paired_box_N. IPR011991. WHTH_trsnscrt_rep_DNA-bd. [Graphical view]
Gene3D	G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 2 hits.
KO	K09382.
Pfam	PF00292. PAX. 1 hit. [Graphical view]
PRINTS	PR00027. PAIREDBOX.
SMART	SM00351. PAX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00034. PAIRED_1. 1 hit. PS51057. PAIRED_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	19556.
SOURCE	Search...

Entry information

Entry name

PAX1_HUMAN

Accession

Primary (citable) accession number: P15863
Secondary accession number(s): B4E0D6 , Q642X9, Q6NTC0, Q9Y558

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	May 18, 2010
Last modified:	December 14, 2011
This is version 112 of the entry and version 4 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.