Periaxin - Homo sapiens (Human)

Names and origin

Protein names

Recommended name:
Periaxin

Gene names

Name:	PRX
Synonyms:	KIAA1620

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

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Protein attributes

Sequence length	1461 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	Seems to be required for maintenance of peripheral nerve myelin sheath. May have a role in axon-glial interactions, possibly by interacting with the cytoplasmic domains of integral membrane proteins such as myelin-associated glycoprotein in the periaxonal regions of the Schwann cell plasma membrane. May have a role in the early phases of myelin deposition.
Subunit structure	Interacts with SCN10A. Found in a complex with SCN10A.
Subcellular location	Nucleus By similarity. Isoform 1: Cell membrane By similarity. Note: Associated with plasma membrane during myelination By similarity. Isoform 2: Cytoplasm By similarity.
Tissue specificity	Isoform 1 and isoform 2 are found in sciatic nerve and Schwann cells. Ref.4
Domain	Has a remarkable domain of repetitive pentameric units sometimes followed by a tripeptide spacer, it may separate two functional basic and acidic domains. The Arg/Lys-rich basic domain functions as a tripartite nuclear localization signal.
Involvement in disease	Defects in PRX are a cause of Dejerine-Sottas syndrome (DSS) [MIM:145900]; also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. DSS is characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. Ref.4
Sequence similarities	Belongs to the periaxin family. Contains 1 PDZ (DHR) domain.

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Ontologies

Keywords
Cellular component	Cell membrane Cytoplasm Membrane Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Charcot-Marie-Tooth disease Dejerine-Sottas syndrome Neuropathy
Domain	Repeat
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	axon ensheathment Ref.1 Non-traceable author statement. Source: UniProtKB
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

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Binary interactions

With	Entry	#Exp.	IntAct
ABL1	P00519	1	EBI-1753064,EBI-375543
CRK	P46108	1	EBI-1753064,EBI-886
FYN	P06241	1	EBI-1753064,EBI-515315
NCK1	P16333	1	EBI-1753064,EBI-389883

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Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BXM0-1) Also known as: L-periaxin; 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.
Note: Associated with plasma membrane during myelination (By similarity).

Isoform 2 (identifier: Q9BXM0-2) Also known as: S-periaxin; The sequence of this isoform differs from the canonical sequence as follows: 128-147: NIQSLSPVKKKKMVPGALGV → VRVLSPAPALDCPSDPVSAP 148-1461: Missing.

Isoform 3 (identifier: Q9BXM0-3) The sequence of this isoform differs from the canonical sequence as follows: 1063-1127: Missing.

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1461

1461

Periaxin

PRO_0000058563

Regions

Domain

16 – 99

84

PDZ

Repeat

431 – 435

5

1

Repeat

439 – 443

5

2

Repeat

447 – 451

5

3

Repeat

455 – 459

5

4

Repeat

463 – 467

5

Repeat

468 – 472

5

6

Repeat

473 – 477

5

7

Repeat

481 – 485

5

8

Repeat

486 – 490

5

9

Repeat

494 – 498

5

10

Repeat

499 – 503

5

11

Repeat

507 – 511

5

12

Repeat

512 – 516

5

13

Repeat

520 – 524

5

14

Repeat

525 – 529

5

15

Repeat

533 – 537

5

16

Repeat

538 – 542

5

17

Repeat

546 – 550

5

18

Repeat

551 – 555

5

19

Repeat

559 – 563

5

20

Repeat

564 – 568

5

21

Repeat

572 – 576

5

22

Repeat

577 – 581

5

23

Repeat

582 – 586

5

24

Repeat

590 – 594

5

25

Repeat

595 – 599

5

26

Repeat

600 – 604

5

27

Repeat

608 – 612

5

28

Repeat

613 – 617

5

29

Repeat

618 – 622

5

30

Repeat

626 – 630

5

31

Repeat

631 – 635

5

32

Repeat

636 – 640

5

33

Repeat

644 – 648

5

34

Repeat

649 – 653

5

35

Repeat

654 – 658

5

36

Repeat

662 – 666

5

37

Repeat

670 – 674

5

38

Repeat

675 – 679

5

39

Repeat

683 – 687

5

40

Repeat

688 – 692

5

41

Repeat

696 – 700

5

42

Repeat

701 – 705

5

43

Repeat

706 – 710

5

44

Repeat

714 – 718

5

45

Repeat

719 – 723

5

46

Repeat

724 – 728

5

47

Repeat

732 – 736

5

48

Repeat

737 – 741

5

49

Repeat

742 – 746

5

50

Repeat

750 – 754

5

51

Repeat

755 – 759

5

52

Repeat

760 – 764

5

53

Repeat

771 – 775

5

54

Repeat

779 – 783

5

55

Region

431 – 783

353

55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]-[AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]

Motif

118 – 196

79

Nuclear localization signal By similarity

Compositional bias

118 – 196

79

Arg/Lys-rich (basic)

Compositional bias

1098 – 1235

138

Glu-rich (acidic)

Compositional bias

1353 – 1361

9

Poly-Glu

Amino acid modifications

Modified residue

381

1

Phosphoserine By similarity

Modified residue

1082

1

Phosphoserine By similarity

Modified residue

1328

1

Phosphoserine Ref.5

Natural variations

Alternative sequence

128 – 147

20

NIQSL…GALGV → VRVLSPAPALDCPSDPVSAP in isoform 2.

VSP_004363

Alternative sequence

148 – 1461

1314

Missing in isoform 2.

VSP_004364

Alternative sequence

1063 – 1127

65

Missing in isoform 3.

VSP_004365

Natural variant

406

1

A → T

VAR_013056

Natural variant

495

1

E → Q

VAR_013057

Natural variant

882

1

V → A: dbSNP rs268671. Ref.1 Ref.2

VAR_013058

Natural variant

921

1

I → M: dbSNP rs268673. Ref.1

VAR_013059

Natural variant

935

1

K → E

VAR_013060

Natural variant

1083

1

P → R: dbSNP rs3745202. Ref.1

VAR_013061

Natural variant

1132

1

R → G: dbSNP rs268674. Ref.1 Ref.2

VAR_013062

Natural variant

1259

1

E → K

VAR_013063

Natural variant

1359

1

Missing

VAR_013064

Natural variant

1411

1

R → C

VAR_013065

Experimental info

Sequence conflict

1 – 9

9

MEARSRSAE → NATPRRPLQ in BAB13446. Ref.2

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Sequences

Sequence		Length	Mass (Da)
Isoform 1 (L-periaxin) [UniParc]. Last modified June 1, 2001. Version 1. Checksum: BBABFDB0F083228F Show »	FASTA	1,461	155,004
10 20 30 40 50 60 MEARSRSAEE LRRAELVEII VETEAQTGVS GINVAGGGKE GIFVRELRED SPAARSLSLQ 70 80 90 100 110 120 EGDQLLSARV FFENFKYEDA LRLLQCAEPY KVSFCLKRTV PTGDLALRPG TVSGYEIKGP 130 140 150 160 170 180 RAKVAKLNIQ SLSPVKKKKM VPGALGVPAD LAPVDVEFSF PKFSRLRRGL KAEAVKGPVP 190 200 210 220 230 240 AAPARRRLQL PRLRVREVAE EAQAARLAAA APPPRKAKVE AEVAAGARFT APQVELVGPR 250 260 270 280 290 300 LPGAEVGVPQ VSAPKAAPSA EAAGGFALHL PTLGLGAPAP PAVEAPAVGI QVPQVELPAL 310 320 330 340 350 360 PSLPTLPTLP CLETREGAVS VVVPTLDVAA PTVGVDLALP GAEVEARGEA PEVALKMPRL 370 380 390 400 410 420 SFPRFGARAK EVAEAKVAKV SPEARVKGPR LRMPTFGLSL LEPRPAAPEV VESKLKLPTI 430 440 450 460 470 480 KMPSLGIGVS GPEVKVPKGP EVKLPKAPEV KLPKVPEAAL PEVRLPEVEL PKVSEMKLPK 490 500 510 520 530 540 VPEMAVPEVR LPEVELPKVS EMKLPKVPEM AVPEVRLPEV QLLKVSEMKL PKVPEMAVPE 550 560 570 580 590 600 VRLPEVQLPK VSEMKLPEVS EVAVPEVRLP EVQLPKVPEM KVPEMKLPKV PEMKLPEMKL 610 620 630 640 650 660 PEVQLPKVPE MAVPDVHLPE VQLPKVPEMK LPEMKLPEVK LPKVPEMAVP DVHLPEVQLP 670 680 690 700 710 720 KVPEMKLPKM PEMAVPEVRL PEVQLPKVSE MKLPKVPEMA VPDVHLPEVQ LPKVCEMKVP 730 740 750 760 770 780 DMKLPEIKLP KVPEMAVPDV HLPEVQLPKV SEIRLPEMQV PKVPDVHLPK APEVKLPRAP 790 800 810 820 830 840 EVQLKATKAE QAEGMEFGFK MPKMTMPKLG RAESPSRGKP GEAGAEVSGK LVTLPCLQPE 850 860 870 880 890 900 VDGEAHVGVP SLTLPSVELD LPGALGLQGQ VPAAKMGKGE RVEGPEVAAG VREVGFRVPS 910 920 930 940 950 960 VEIVTPQLPA VEIEEGRLEM IETKVKPSSK FSLPKFGLSG PKVAKAEAEG AGRATKLKVS 970 980 990 1000 1010 1020 KFAISLPKAR VGAEAEAKGA GEAGLLPALD LSIPQLSLDA HLPSGKVEVA GADLKFKGPR 1030 1040 1050 1060 1070 1080 FALPKFGVRG RDTEAAELVP GVAELEGKGW GWDGRVKMPK LKMPSFGLAR GKEAEVQGDR 1090 1100 1110 1120 1130 1140 ASPGEKAEST AVQLKIPEVE LVTLGAQEEG RAEGAVAVSG MQLSGLKVST ARQVVTEGHD 1150 1160 1170 1180 1190 1200 AGLRMPPLGI SLPQVELTGF GEAGTPGQQA QSTVPSAEGT AGYRVQVPQV TLSLPGAQVA 1210 1220 1230 1240 1250 1260 GGELLVGEGV FKMPTVTVPQ LELDVGLSRE AQAGEAATGE GGLRLKLPTL GARARVGGEG 1270 1280 1290 1300 1310 1320 AEEQPPGAER TFCLSLPDVE LSPSGGNHAE YQVAEGEGEA GHKLKVRLPR FGLVRAKEGA 1330 1340 1350 1360 1370 1380 EEGEKAKSPK LRLPRVGFSQ SEMVTGEGSP SPEEEEEEEE EGSGEGASGR RGRVRVRLPR 1390 1400 1410 1420 1430 1440 VGLAAPSKAS RGQEGDAAPK SPVREKSPKF RFPRVSLSPK ARSGSGDQEE GGLRVRLPSV 1450 1460 GFSETGAPGP ARMEGAQAAA V « Hide
Isoform 2 (S-periaxin). Checksum: ED181EF6C33F9128 Show »	FASTA	147	15,931
10 20 30 40 50 60 MEARSRSAEE LRRAELVEII VETEAQTGVS GINVAGGGKE GIFVRELRED SPAARSLSLQ 70 80 90 100 110 120 EGDQLLSARV FFENFKYEDA LRLLQCAEPY KVSFCLKRTV PTGDLALRPG TVSGYEIKGP 130 140 RAKVAKLVRV LSPAPALDCP SDPVSAP « Hide
Isoform 3. Checksum: 26D419C24D3B5DED Show »	FASTA	1,396	148,354
10 20 30 40 50 60 MEARSRSAEE LRRAELVEII VETEAQTGVS GINVAGGGKE GIFVRELRED SPAARSLSLQ 70 80 90 100 110 120 EGDQLLSARV FFENFKYEDA LRLLQCAEPY KVSFCLKRTV PTGDLALRPG TVSGYEIKGP 130 140 150 160 170 180 RAKVAKLNIQ SLSPVKKKKM VPGALGVPAD LAPVDVEFSF PKFSRLRRGL KAEAVKGPVP 190 200 210 220 230 240 AAPARRRLQL PRLRVREVAE EAQAARLAAA APPPRKAKVE AEVAAGARFT APQVELVGPR 250 260 270 280 290 300 LPGAEVGVPQ VSAPKAAPSA EAAGGFALHL PTLGLGAPAP PAVEAPAVGI QVPQVELPAL 310 320 330 340 350 360 PSLPTLPTLP CLETREGAVS VVVPTLDVAA PTVGVDLALP GAEVEARGEA PEVALKMPRL 370 380 390 400 410 420 SFPRFGARAK EVAEAKVAKV SPEARVKGPR LRMPTFGLSL LEPRPAAPEV VESKLKLPTI 430 440 450 460 470 480 KMPSLGIGVS GPEVKVPKGP EVKLPKAPEV KLPKVPEAAL PEVRLPEVEL PKVSEMKLPK 490 500 510 520 530 540 VPEMAVPEVR LPEVELPKVS EMKLPKVPEM AVPEVRLPEV QLLKVSEMKL PKVPEMAVPE 550 560 570 580 590 600 VRLPEVQLPK VSEMKLPEVS EVAVPEVRLP EVQLPKVPEM KVPEMKLPKV PEMKLPEMKL 610 620 630 640 650 660 PEVQLPKVPE MAVPDVHLPE VQLPKVPEMK LPEMKLPEVK LPKVPEMAVP DVHLPEVQLP 670 680 690 700 710 720 KVPEMKLPKM PEMAVPEVRL PEVQLPKVSE MKLPKVPEMA VPDVHLPEVQ LPKVCEMKVP 730 740 750 760 770 780 DMKLPEIKLP KVPEMAVPDV HLPEVQLPKV SEIRLPEMQV PKVPDVHLPK APEVKLPRAP 790 800 810 820 830 840 EVQLKATKAE QAEGMEFGFK MPKMTMPKLG RAESPSRGKP GEAGAEVSGK LVTLPCLQPE 850 860 870 880 890 900 VDGEAHVGVP SLTLPSVELD LPGALGLQGQ VPAAKMGKGE RVEGPEVAAG VREVGFRVPS 910 920 930 940 950 960 VEIVTPQLPA VEIEEGRLEM IETKVKPSSK FSLPKFGLSG PKVAKAEAEG AGRATKLKVS 970 980 990 1000 1010 1020 KFAISLPKAR VGAEAEAKGA GEAGLLPALD LSIPQLSLDA HLPSGKVEVA GADLKFKGPR 1030 1040 1050 1060 1070 1080 FALPKFGVRG RDTEAAELVP GVAELEGKGW GWDGRVKMPK LKVSTARQVV TEGHDAGLRM 1090 1100 1110 1120 1130 1140 PPLGISLPQV ELTGFGEAGT PGQQAQSTVP SAEGTAGYRV QVPQVTLSLP GAQVAGGELL 1150 1160 1170 1180 1190 1200 VGEGVFKMPT VTVPQLELDV GLSREAQAGE AATGEGGLRL KLPTLGARAR VGGEGAEEQP 1210 1220 1230 1240 1250 1260 PGAERTFCLS LPDVELSPSG GNHAEYQVAE GEGEAGHKLK VRLPRFGLVR AKEGAEEGEK 1270 1280 1290 1300 1310 1320 AKSPKLRLPR VGFSQSEMVT GEGSPSPEEE EEEEEEGSGE GASGRRGRVR VRLPRVGLAA 1330 1340 1350 1360 1370 1380 PSKASRGQEG DAAPKSPVRE KSPKFRFPRV SLSPKARSGS GDQEEGGLRV RLPSVGFSET 1390 GAPGPARMEG AQAAAV « Hide

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Periaxin mutations cause recessive Dejerine-Sottas neuropathy." Boerkoel C.F., Takashima H., Stankiewicz P., Garcia C.A., Leber S.M., Rhee-Morris L., Lupski J.R. Am. J. Hum. Genet. 68:325-333(2001) [PubMed: 11133365] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANTS THR-406; GLN-495; ALA-882; MET-921; GLU-935; ARG-1083; GLY-1132; LYS-1259; GLU-1359 DEL AND CYS-1411.
[2]	"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed: 10997877] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANTS ALA-882 AND GLY-1132. Tissue: Brain.
[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). Tissue: PNS.
[4]	"A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease." Guilbot A., Williams A., Ravise N., Verny C., Brice A., Sherman D.L., Brophy P.J., LeGuern E., Delague V., Bareil C., Megarbane A., Claustres M. Hum. Mol. Genet. 10:415-421(2001) [PubMed: 11157804] [Abstract] Cited for: DISEASE, TISSUE SPECIFICITY.
[5]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1328, MASS SPECTROMETRY. Tissue: Epithelium.
+	Additional computationally mapped references.

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Web resources

Inherited peripheral neuropathies mutation db

GeneReviews

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Cross-references

Sequence databases
EMBL GenBank DDBJ	AF321191 mRNA. Translation: AAK19279.1. AF321192 mRNA. Translation: AAK19280.1. AB046840 mRNA. Translation: BAB13446.1. BC067266 mRNA. Translation: AAH67266.1.
IPI	IPI00024853. IPI00221068. IPI00221069.
RefSeq	NP_066007.1. NP_870998.2.
UniGene	Hs.205457
3D structure databases
SMR	Q9BXM0. Positions 4-114.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BXM0. 4 interactions.
STRING	Q9BXM0.
PTM databases
PhosphoSite	Q9BXM0.
Proteomic databases
PRIDE	Q9BXM0.
Genome annotation databases
Ensembl	ENST00000324001; ENSP00000326018; ENSG00000105227; Homo sapiens. [Genome view]
GeneID	57716.
KEGG	hsa:57716.
UCSC	uc002onq.1. human. uc002ons.1. human.
Organism-specific databases
CTD	57716.
GeneCards	GC19M045591.
H-InvDB	HIX0015135.
HGNC	HGNC:13797. PRX.
HPA	HPA001868.
MIM	145900. phenotype. 605725. gene.
Orphanet	99952. Charcot-Marie-Tooth disease, type 4F. 64748. Dejerine-Sottas syndrome.
PharmGKB	PA142671957.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG17691.
HOGENOM	HBG564646.
HOVERGEN	Q9BXM0.
InParanoid	Q9BXM0.
Gene expression databases
ArrayExpress	Q9BXM0.
Bgee	Q9BXM0.
CleanEx	HS_PRX.
Genevestigator	Q9BXM0.
GermOnline	ENSG00000105227. Homo sapiens.
Family and domain databases
InterPro	IPR001478. PDZ/DHR/GLGF. [Graphical view]
Pfam	PF00595. PDZ. 1 hit. [Graphical view]
SMART	SM00228. PDZ. 1 hit. [Graphical view]
PROSITE	PS50106. PDZ. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	64638.
SOURCE	Search...

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Entry information

Entry name

PRAX_HUMAN

Accession

Primary (citable) accession number: Q9BXM0
Secondary accession number(s): Q9BXL9, Q9HCF2

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 16, 2002
Last sequence update:	June 1, 2001
Last modified:	January 19, 2010
This is version 90 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.

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Relevant documents

Human chromosome 19

Human chromosome 19: 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

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Alternative products

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents