UniProtKB - Q9BXM0 (PRAX_HUMAN)

>sp|Q9BXM0|PRAX_HUMAN Periaxin OS=Homo sapiens OX=9606 GN=PRX PE=1 SV=2
MEARSRSAEELRRAELVEIIVETEAQTGVSGINVAGGGKEGIFVRELREDSPAARSLSLQ
EGDQLLSARVFFENFKYEDALRLLQCAEPYKVSFCLKRTVPTGDLALRPGTVSGYEIKGP
RAKVAKLNIQSLSPVKKKKMVPGALGVPADLAPVDVEFSFPKFSRLRRGLKAEAVKGPVP
AAPARRRLQLPRLRVREVAEEAQAARLAAAAPPPRKAKVEAEVAAGARFTAPQVELVGPR
LPGAEVGVPQVSAPKAAPSAEAAGGFALHLPTLGLGAPAPPAVEAPAVGIQVPQVELPAL
PSLPTLPTLPCLETREGAVSVVVPTLDVAAPTVGVDLALPGAEVEARGEAPEVALKMPRL
SFPRFGARAKEVAEAKVAKVSPEARVKGPRLRMPTFGLSLLEPRPAAPEVVESKLKLPTI
KMPSLGIGVSGPEVKVPKGPEVKLPKAPEVKLPKVPEAALPEVRLPEVELPKVSEMKLPK
VPEMAVPEVRLPEVELPKVSEMKLPKVPEMAVPEVRLPEVQLLKVSEMKLPKVPEMAVPE
VRLPEVQLPKVSEMKLPEVSEVAVPEVRLPEVQLPKVPEMKVPEMKLPKVPEMKLPEMKL
PEVQLPKVPEMAVPDVHLPEVQLPKVPEMKLPEMKLPEVKLPKVPEMAVPDVHLPEVQLP
KVPEMKLPKMPEMAVPEVRLPEVQLPKVSEMKLPKVPEMAVPDVHLPEVQLPKVCEMKVP
DMKLPEIKLPKVPEMAVPDVHLPEVQLPKVSEIRLPEMQVPKVPDVHLPKAPEVKLPRAP
EVQLKATKAEQAEGMEFGFKMPKMTMPKLGRAESPSRGKPGEAGAEVSGKLVTLPCLQPE
VDGEAHVGVPSLTLPSVELDLPGALGLQGQVPAAKMGKGERVEGPEVAAGVREVGFRVPS
VEIVTPQLPAVEIEEGRLEMIETKVKPSSKFSLPKFGLSGPKVAKAEAEGAGRATKLKVS
KFAISLPKARVGAEAEAKGAGEAGLLPALDLSIPQLSLDAHLPSGKVEVAGADLKFKGPR
FALPKFGVRGRDTEAAELVPGVAELEGKGWGWDGRVKMPKLKMPSFGLARGKEAEVQGDR
ASPGEKAESTAVQLKIPEVELVTLGAQEEGRAEGAVAVSGMQLSGLKVSTAGQVVTEGHD
AGLRMPPLGISLPQVELTGFGEAGTPGQQAQSTVPSAEGTAGYRVQVPQVTLSLPGAQVA
GGELLVGEGVFKMPTVTVPQLELDVGLSREAQAGEAATGEGGLRLKLPTLGARARVGGEG
AEEQPPGAERTFCLSLPDVELSPSGGNHAEYQVAEGEGEAGHKLKVRLPRFGLVRAKEGA
EEGEKAKSPKLRLPRVGFSQSEMVTGEGSPSPEEEEEEEEEGSGEGASGRRGRVRVRLPR
VGLAAPSKASRGQEGDAAPKSPVREKSPKFRFPRVSLSPKARSGSGDQEEGGLRVRLPSV
GFSETGAPGPARMEGAQAAAV

Entry version 176 (07 Oct 2020)
Sequence version 2 (11 Jan 2011)
Previous versions | rss

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Protein

Periaxin

Gene

PRX

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lanterman incisures that correspond to short, cytoplasm-filled regions on myelinated nerves. Recruits DRP2 to the Schwann cell plasma membrane. Required for normal protein composition of the eye lens fiber cell plasma membrane and normal eye lens fiber cell morphology.By similarity

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

PathwayCommonsⁱ	Q9BXM0
Reactomeⁱ	R-HSA-9619665, EGR2 and SOX10-mediated initiation of Schwann cell myelination [Q9BXM0-1]

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Periaxin
Gene namesⁱ	Name:PRX Synonyms:KIAA1620
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 19

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000105227.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:13797, PRX
MIMⁱ	605725, gene
neXtProtⁱ	NX_Q9BXM0

Keywords - Cellular componentⁱ

Cell junction, Cell membrane, Cytoplasm, Membrane, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Dejerine-Sottas syndrome (DSS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. 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.

Related information in OMIM

Charcot-Marie-Tooth disease 4F (CMT4F)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4F is characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_069093	651	D → N in CMT4F. 1 PublicationCorresponds to variant dbSNP:rs3814290Ensembl.		1

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	81 – 83	LRL → QRQ: Nearly abolishes export from the nucleus. 1 Publication		3

Keywords - Diseaseⁱ

Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET More...DisGeNETⁱ	57716
GeneReviewsⁱ	PRX
MalaCards human disease database More...MalaCardsⁱ	PRX
MIMⁱ	145900, phenotype 614895, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000105227
Orphanetⁱ	99952, Charcot-Marie-Tooth disease type 4F 64748, Dejerine-Sottas syndrome
PharmGKBⁱ	PA33843

Miscellaneous databases

Pharosⁱ	Q9BXM0, Tbio

Pharosⁱ

Q9BXM0, Tbio

Polymorphism and mutation databases

BioMutaⁱ	PRX
DMDMⁱ	317373270

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000058563	1 – 1461	PeriaxinAdd BLAST		1461

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	7	PhosphoserineBy similarity	1
Modified residueⁱ	133	PhosphoserineBy similarity	1
Modified residueⁱ	900	PhosphoserineBy similarity	1
Modified residueⁱ	1082	PhosphoserineBy similarity	1
Modified residueⁱ	1349	PhosphoserineBy similarity	1
Modified residueⁱ	1351	PhosphoserineBy similarity	1
Modified residueⁱ	1363	PhosphoserineBy similarity	1
Modified residueⁱ	1401	PhosphoserineBy similarity	1
Modified residueⁱ	1407	PhosphoserineBy similarity	1
Modified residueⁱ	1439	PhosphoserineBy similarity	1

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

jPOSTⁱ	Q9BXM0
MassIVEⁱ	Q9BXM0
PaxDbⁱ	Q9BXM0
PeptideAtlas More...PeptideAtlasⁱ	Q9BXM0
PRIDEⁱ	Q9BXM0
ProteomicsDBⁱ	79452 [Q9BXM0-1] 79453 [Q9BXM0-2] 79454 [Q9BXM0-3]

PTM databases

iPTMnetⁱ	Q9BXM0
PhosphoSitePlusⁱ	Q9BXM0

Expressionⁱ

Tissue specificityⁱ

Detected in spinal cord (PubMed:11133365). Isoform 1 and isoform 2 are found in sciatic nerve and Schwann cells (PubMed:11157804).2 Publications

Gene expression databases

Bgeeⁱ	ENSG00000105227, Expressed in trigeminal ganglion and 232 other tissues
Genevisibleⁱ	Q9BXM0, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000105227, Group enriched (brain, lung, retina)

HPAⁱ

ENSG00000105227, Group enriched (brain, lung, retina)

Interactionⁱ

Subunit structureⁱ

Homodimer (via PDZ domain) (PubMed:24675079).

Interacts with SCN10A.

Found in a complex with SCN10A (By similarity).

Interacts with DRP2.

Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1 (By similarity). Detected in a complex composed of at least EZR, AHNAK, PPL and PRX (By similarity).

Identified in a complex with EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, VIM and spectrin (By similarity).

By similarity1 Publication

Binary interactionsⁱ

Hide details

Q9BXM0

With	#Exp.	IntAct
NCK1 [P16333]	2	EBI-1753064,EBI-389883
TERF2IP [Q9NYB0]	2	EBI-1753064,EBI-750109

Protein-protein interaction databases

BioGRIDⁱ	121739, 7 interactors
IntActⁱ	Q9BXM0, 11 interactors
STRINGⁱ	9606.ENSP00000326018

Miscellaneous databases

RNActⁱ	Q9BXM0, protein

RNActⁱ

Q9BXM0, protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	18 – 22	Combined sources	5
Beta strandⁱ	26 – 28	Combined sources	3
Beta strandⁱ	32 – 38	Combined sources	7
Beta strandⁱ	41 – 47	Combined sources	7
Helixⁱ	52 – 56	Combined sources	5
Beta strandⁱ	64 – 71	Combined sources	8
Helixⁱ	77 – 87	Combined sources	11
Beta strandⁱ	90 – 99	Combined sources	10

Show more details

3D structure databases

SMRⁱ	Q9BXM0
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	16 – 99	PDZPROSITE-ProRule annotationAdd BLAST	84
Repeatⁱ	431 – 435	1	5
Repeatⁱ	439 – 443	2	5
Repeatⁱ	447 – 451	3	5
Repeatⁱ	455 – 459	4	5
Repeatⁱ	463 – 467	5	5
Repeatⁱ	468 – 472	6	5
Repeatⁱ	473 – 477	7	5
Repeatⁱ	481 – 485	8	5
Repeatⁱ	486 – 490	9	5
Repeatⁱ	494 – 498	10	5
Repeatⁱ	499 – 503	11	5
Repeatⁱ	507 – 511	12	5
Repeatⁱ	512 – 516	13	5
Repeatⁱ	520 – 524	14	5
Repeatⁱ	525 – 529	15	5
Repeatⁱ	533 – 537	16	5
Repeatⁱ	538 – 542	17	5
Repeatⁱ	546 – 550	18	5
Repeatⁱ	551 – 555	19	5
Repeatⁱ	559 – 563	20	5
Repeatⁱ	564 – 568	21	5
Repeatⁱ	572 – 576	22	5
Repeatⁱ	577 – 581	23	5
Repeatⁱ	582 – 586	24	5
Repeatⁱ	590 – 594	25	5
Repeatⁱ	595 – 599	26	5
Repeatⁱ	600 – 604	27	5
Repeatⁱ	608 – 612	28	5
Repeatⁱ	613 – 617	29	5
Repeatⁱ	618 – 622	30	5
Repeatⁱ	626 – 630	31	5
Repeatⁱ	631 – 635	32	5
Repeatⁱ	636 – 640	33	5
Repeatⁱ	644 – 648	34	5
Repeatⁱ	649 – 653	35	5
Repeatⁱ	654 – 658	36	5
Repeatⁱ	662 – 666	37	5
Repeatⁱ	670 – 674	38	5
Repeatⁱ	675 – 679	39	5
Repeatⁱ	683 – 687	40	5
Repeatⁱ	688 – 692	41	5
Repeatⁱ	696 – 700	42	5
Repeatⁱ	701 – 705	43	5
Repeatⁱ	706 – 710	44	5
Repeatⁱ	714 – 718	45	5
Repeatⁱ	719 – 723	46	5
Repeatⁱ	724 – 728	47	5
Repeatⁱ	732 – 736	48	5
Repeatⁱ	737 – 741	49	5
Repeatⁱ	742 – 746	50	5
Repeatⁱ	750 – 754	51	5
Repeatⁱ	755 – 759	52	5
Repeatⁱ	760 – 764	53	5
Repeatⁱ	771 – 775	54	5
Repeatⁱ	779 – 783	55	5

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	431 – 783	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]-[AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]Add BLAST		353

Motif

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Motifⁱ	70 – 84	Nuclear export signal1 PublicationAdd BLAST		15
Motifⁱ	118 – 196	Nuclear localization signalBy similarityAdd BLAST		79

Compositional bias

Feature key	Position(s)	DescriptionActions	Length
Compositional biasⁱ	118 – 196	Arg/Lys-rich (basic)Add BLAST	79
Compositional biasⁱ	1098 – 1235	Glu-rich (acidic)Add BLAST	138
Compositional biasⁱ	1353 – 1361	Poly-Glu	9

Domainⁱ

Has a remarkable domain of repetitive pentameric units sometimes followed by a tripeptide spacer, it may separate two functional basic and acidic domains.Curated

The Arg/Lys-rich basic domain functions as a tripartite nuclear localization signal.By similarity

The PDZ domain contains the signal for export from the nucleus (PubMed:24633211). The N-terminal region including the PDZ domain is required for the formation of Cajal bands on myelinated nerves.By similarity1 Publication

Sequence similaritiesⁱ

Belongs to the periaxin family.Curated

Keywords - Domainⁱ

Repeat

Phylogenomic databases

eggNOGⁱ	ENOG502QS7Y, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000160366
HOGENOMⁱ	CLU_1758219_0_0_1
InParanoidⁱ	Q9BXM0
OMAⁱ	GPDVEMK
Database of Orthologous Groups More...OrthoDBⁱ	1621899at2759
PhylomeDBⁱ	Q9BXM0
TreeFamⁱ	TF350595

Family and domain databases

Gene3Dⁱ	2.30.42.10, 1 hit
InterProⁱ	View protein in InterPro IPR001478, PDZ IPR036034, PDZ_sf
SMARTⁱ	View protein in SMART SM00228, PDZ, 1 hit
SUPFAMⁱ	SSF50156, SSF50156, 1 hit
PROSITEⁱ	View protein in PROSITE PS50106, PDZ, 1 hit

Sequences (3+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 3 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show all Align All

Isoform 1 (identifier: Q9BXM0-1) [UniParc]FASTA Add to basket

Also known as: L-periaxin

This isoform has been chosen as the canonicalⁱ sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        10         20         30         40         50
MEARSRSAEE LRRAELVEII VETEAQTGVS GINVAGGGKE GIFVRELRED 
        60         70         80         90        100
SPAARSLSLQ EGDQLLSARV FFENFKYEDA LRLLQCAEPY KVSFCLKRTV 
       110        120        130        140        150
PTGDLALRPG TVSGYEIKGP RAKVAKLNIQ SLSPVKKKKM VPGALGVPAD 
       160        170        180        190        200
LAPVDVEFSF PKFSRLRRGL KAEAVKGPVP AAPARRRLQL PRLRVREVAE 
       210        220        230        240        250
EAQAARLAAA APPPRKAKVE AEVAAGARFT APQVELVGPR LPGAEVGVPQ 
       260        270        280        290        300
VSAPKAAPSA EAAGGFALHL PTLGLGAPAP PAVEAPAVGI QVPQVELPAL 
       310        320        330        340        350
PSLPTLPTLP CLETREGAVS VVVPTLDVAA PTVGVDLALP GAEVEARGEA 
       360        370        380        390        400
PEVALKMPRL SFPRFGARAK EVAEAKVAKV SPEARVKGPR LRMPTFGLSL 
       410        420        430        440        450
LEPRPAAPEV VESKLKLPTI KMPSLGIGVS GPEVKVPKGP EVKLPKAPEV 
       460        470        480        490        500
KLPKVPEAAL PEVRLPEVEL PKVSEMKLPK VPEMAVPEVR LPEVELPKVS 
       510        520        530        540        550
EMKLPKVPEM AVPEVRLPEV QLLKVSEMKL PKVPEMAVPE VRLPEVQLPK 
       560        570        580        590        600
VSEMKLPEVS EVAVPEVRLP EVQLPKVPEM KVPEMKLPKV PEMKLPEMKL 
       610        620        630        640        650
PEVQLPKVPE MAVPDVHLPE VQLPKVPEMK LPEMKLPEVK LPKVPEMAVP 
       660        670        680        690        700
DVHLPEVQLP KVPEMKLPKM PEMAVPEVRL PEVQLPKVSE MKLPKVPEMA 
       710        720        730        740        750
VPDVHLPEVQ LPKVCEMKVP DMKLPEIKLP KVPEMAVPDV HLPEVQLPKV 
       760        770        780        790        800
SEIRLPEMQV PKVPDVHLPK APEVKLPRAP EVQLKATKAE QAEGMEFGFK 
       810        820        830        840        850
MPKMTMPKLG RAESPSRGKP GEAGAEVSGK LVTLPCLQPE VDGEAHVGVP 
       860        870        880        890        900
SLTLPSVELD LPGALGLQGQ VPAAKMGKGE RVEGPEVAAG VREVGFRVPS 
       910        920        930        940        950
VEIVTPQLPA VEIEEGRLEM IETKVKPSSK FSLPKFGLSG PKVAKAEAEG 
       960        970        980        990       1000
AGRATKLKVS KFAISLPKAR VGAEAEAKGA GEAGLLPALD LSIPQLSLDA 
      1010       1020       1030       1040       1050
HLPSGKVEVA GADLKFKGPR FALPKFGVRG RDTEAAELVP GVAELEGKGW 
      1060       1070       1080       1090       1100
GWDGRVKMPK LKMPSFGLAR GKEAEVQGDR ASPGEKAEST AVQLKIPEVE 
      1110       1120       1130       1140       1150
LVTLGAQEEG RAEGAVAVSG MQLSGLKVST AGQVVTEGHD AGLRMPPLGI 
      1160       1170       1180       1190       1200
SLPQVELTGF GEAGTPGQQA QSTVPSAEGT AGYRVQVPQV TLSLPGAQVA 
      1210       1220       1230       1240       1250
GGELLVGEGV FKMPTVTVPQ LELDVGLSRE AQAGEAATGE GGLRLKLPTL 
      1260       1270       1280       1290       1300
GARARVGGEG AEEQPPGAER TFCLSLPDVE LSPSGGNHAE YQVAEGEGEA 
      1310       1320       1330       1340       1350
GHKLKVRLPR FGLVRAKEGA EEGEKAKSPK LRLPRVGFSQ SEMVTGEGSP 
      1360       1370       1380       1390       1400
SPEEEEEEEE EGSGEGASGR RGRVRVRLPR VGLAAPSKAS RGQEGDAAPK 
      1410       1420       1430       1440       1450
SPVREKSPKF RFPRVSLSPK ARSGSGDQEE GGLRVRLPSV GFSETGAPGP 
      1460 
ARMEGAQAAA V

Length:1,461

Mass (Da):154,905

Last modified:January 11, 2011 - v2

Checksum:ⁱ41F00C50B1DC3C7A

Isoform 2 (identifier: Q9BXM0-2) [UniParc]FASTA Add to basket

Also known as: S-periaxin

The sequence of this isoform differs from the canonical sequence as follows:
128-147: NIQSLSPVKKKKMVPGALGV → VRVLSPAPALDCPSDPVSAP
148-1461: Missing.

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        10         20         30         40         50
MEARSRSAEE LRRAELVEII VETEAQTGVS GINVAGGGKE GIFVRELRED 
        60         70         80         90        100
SPAARSLSLQ EGDQLLSARV FFENFKYEDA LRLLQCAEPY KVSFCLKRTV 
       110        120        130        140 
PTGDLALRPG TVSGYEIKGP RAKVAKLVRV LSPAPALDCP SDPVSAP

Show »

Length:147

Mass (Da):15,931

Checksum:ⁱED181EF6C33F9128

Isoform 3 (identifier: Q9BXM0-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-139: Missing.

« Hide

        10         20         30         40         50
MVPGALGVPA DLAPVDVEFS FPKFSRLRRG LKAEAVKGPV PAAPARRRLQ 
        60         70         80         90        100
LPRLRVREVA EEAQAARLAA AAPPPRKAKV EAEVAAGARF TAPQVELVGP 
       110        120        130        140        150
RLPGAEVGVP QVSAPKAAPS AEAAGGFALH LPTLGLGAPA PPAVEAPAVG 
       160        170        180        190        200
IQVPQVELPA LPSLPTLPTL PCLETREGAV SVVVPTLDVA APTVGVDLAL 
       210        220        230        240        250
PGAEVEARGE APEVALKMPR LSFPRFGARA KEVAEAKVAK VSPEARVKGP 
       260        270        280        290        300
RLRMPTFGLS LLEPRPAAPE VVESKLKLPT IKMPSLGIGV SGPEVKVPKG 
       310        320        330        340        350
PEVKLPKAPE VKLPKVPEAA LPEVRLPEVE LPKVSEMKLP KVPEMAVPEV 
       360        370        380        390        400
RLPEVELPKV SEMKLPKVPE MAVPEVRLPE VQLLKVSEMK LPKVPEMAVP 
       410        420        430        440        450
EVRLPEVQLP KVSEMKLPEV SEVAVPEVRL PEVQLPKVPE MKVPEMKLPK 
       460        470        480        490        500
VPEMKLPEMK LPEVQLPKVP EMAVPDVHLP EVQLPKVPEM KLPEMKLPEV 
       510        520        530        540        550
KLPKVPEMAV PDVHLPEVQL PKVPEMKLPK MPEMAVPEVR LPEVQLPKVS 
       560        570        580        590        600
EMKLPKVPEM AVPDVHLPEV QLPKVCEMKV PDMKLPEIKL PKVPEMAVPD 
       610        620        630        640        650
VHLPEVQLPK VSEIRLPEMQ VPKVPDVHLP KAPEVKLPRA PEVQLKATKA 
       660        670        680        690        700
EQAEGMEFGF KMPKMTMPKL GRAESPSRGK PGEAGAEVSG KLVTLPCLQP 
       710        720        730        740        750
EVDGEAHVGV PSLTLPSVEL DLPGALGLQG QVPAAKMGKG ERVEGPEVAA 
       760        770        780        790        800
GVREVGFRVP SVEIVTPQLP AVEIEEGRLE MIETKVKPSS KFSLPKFGLS 
       810        820        830        840        850
GPKVAKAEAE GAGRATKLKV SKFAISLPKA RVGAEAEAKG AGEAGLLPAL 
       860        870        880        890        900
DLSIPQLSLD AHLPSGKVEV AGADLKFKGP RFALPKFGVR GRDTEAAELV 
       910        920        930        940        950
PGVAELEGKG WGWDGRVKMP KLKMPSFGLA RGKEAEVQGD RASPGEKAES 
       960        970        980        990       1000
TAVQLKIPEV ELVTLGAQEE GRAEGAVAVS GMQLSGLKVS TAGQVVTEGH 
      1010       1020       1030       1040       1050
DAGLRMPPLG ISLPQVELTG FGEAGTPGQQ AQSTVPSAEG TAGYRVQVPQ 
      1060       1070       1080       1090       1100
VTLSLPGAQV AGGELLVGEG VFKMPTVTVP QLELDVGLSR EAQAGEAATG 
      1110       1120       1130       1140       1150
EGGLRLKLPT LGARARVGGE GAEEQPPGAE RTFCLSLPDV ELSPSGGNHA 
      1160       1170       1180       1190       1200
EYQVAEGEGE AGHKLKVRLP RFGLVRAKEG AEEGEKAKSP KLRLPRVGFS 
      1210       1220       1230       1240       1250
QSEMVTGEGS PSPEEEEEEE EEGSGEGASG RRGRVRVRLP RVGLAAPSKA 
      1260       1270       1280       1290       1300
SRGQEGDAAP KSPVREKSPK FRFPRVSLSP KARSGSGDQE EGGLRVRLPS 
      1310       1320 
VGFSETGAPG PARMEGAQAA AV

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Length:1,322

Mass (Da):139,613

Checksum:ⁱ297EF1FBDE6B031F

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	A0A669KBF1	A0A669KBF1_HUMAN		Periaxin Periaxin	PRX	1,556	Annotation score:

Sequence cautionⁱ

The sequence BAB13446 differs from that shown. Aberrant splicing.Curated

The sequence BAB13446 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_013056	406	A → T1 PublicationCorresponds to variant dbSNP:rs117336941Ensembl.	1
Natural variantⁱVAR_013057	495	E → Q1 PublicationCorresponds to variant dbSNP:rs146789340Ensembl.	1
Natural variantⁱVAR_073295	525	V → A Rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs149715830Ensembl.	1
Natural variantⁱVAR_069093	651	D → N in CMT4F. 1 PublicationCorresponds to variant dbSNP:rs3814290Ensembl.	1
Natural variantⁱVAR_013058	882	V → A2 PublicationsCorresponds to variant dbSNP:rs268671Ensembl.	1
Natural variantⁱVAR_013059	921	I → M1 PublicationCorresponds to variant dbSNP:rs268673Ensembl.	1
Natural variantⁱVAR_013060	935	K → E1 Publication	1
Natural variantⁱVAR_013061	1083	P → R1 PublicationCorresponds to variant dbSNP:rs3745202Ensembl.	1
Natural variantⁱVAR_013062	1132	G → R2 PublicationsCorresponds to variant dbSNP:rs268674Ensembl.	1
Natural variantⁱVAR_013063	1259	E → K1 PublicationCorresponds to variant dbSNP:rs751742049Ensembl.	1
Natural variantⁱVAR_073296	1335	R → Q Found in a patient with a complex hereditary motor and sensory neuropathy form associated with dysarthria, joints hypermobility and cerebellar signs; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_013064	1359	Missing 1 Publication	1
Natural variantⁱVAR_013065	1411	R → C1 PublicationCorresponds to variant dbSNP:rs533966999Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_040352	1 – 139	Missing in isoform 3. 1 PublicationAdd BLAST	139
Alternative sequenceⁱVSP_004363	128 – 147	NIQSL…GALGV → VRVLSPAPALDCPSDPVSAP in isoform 2. 1 PublicationAdd BLAST	20
Alternative sequenceⁱVSP_004364	148 – 1461	Missing in isoform 2. 1 PublicationAdd BLAST	1314

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF321191 mRNA Translation: AAK19279.1 AF321192 mRNA Translation: AAK19280.1 AB046840 mRNA Translation: BAB13446.1 Sequence problems. AC010271 Genomic DNA No translation available. BC067266 mRNA Translation: AAH67266.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS12556.1 [Q9BXM0-2] CCDS33028.1 [Q9BXM0-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_066007.1, NM_020956.2 [Q9BXM0-2] NP_870998.2, NM_181882.2 [Q9BXM0-1] XP_011525473.1, XM_011527171.2 [Q9BXM0-1]

Genome annotation databases

Ensemblⁱ	ENST00000291825; ENSP00000291825; ENSG00000105227 [Q9BXM0-2] ENST00000324001; ENSP00000326018; ENSG00000105227 [Q9BXM0-1] ENST00000673881; ENSP00000501070; ENSG00000105227 [Q9BXM0-3]
GeneIDⁱ	57716
KEGGⁱ	hsa:57716
UCSC genome browser More...UCSCⁱ	uc002onr.4, human [Q9BXM0-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9BXM0	Periaxin		HUMAN		1556	UniRef100_Q9BXM0
Isoform 3 of Periaxin		HUMAN		1322
Q9BXM0-2	PRX isoform 1		PANTR		147	UniRef100_A0A6D2VZ59
Periaxin		PANTR		147

Protein	Similar proteins		Species	Score	Length	Source
Q9BXM0	Periaxin		HUMAN		1556	UniRef90_Q9BXM0
PDZ domain-containing protein		PONAB		1550
periaxin isoform X1		SAPAP		1502
PDZ domain-containing protein		PANPA		1459
Periaxin		GORGO		1459
+45
Q9BXM0-2	Isoform 2 of Periaxin		MOUSE		148	UniRef90_O55103-2
PDZ domain-containing protein		CAVPO		147
Isoform 2 of Periaxin		RAT		147
PDZ domain-containing protein		ICTTR		147
PDZ domain-containing protein		PIG		147
+7

Protein	Similar proteins		Species	Score	Length	Source
Q9BXM0	Periaxin		BOVIN		1349	UniRef50_Q9BXM0
Periaxin		MOUSE		1391
Periaxin		RAT		1383
Periaxin		HUMAN		1556
PDZ domain-containing protein		PONAB		1550
+225
Q9BXM0-2	Isoform 2 of Periaxin		MOUSE		148	UniRef50_O55103-2
Isoform 2 of Periaxin		RAT		147
PRX isoform 1		PANTR		147
PDZ domain-containing protein		CANLF		147
PDZ domain-containing protein		PIG		147
+30

Cross-referencesⁱ

Web resourcesⁱ

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF321191 mRNA Translation: AAK19279.1 AF321192 mRNA Translation: AAK19280.1 AB046840 mRNA Translation: BAB13446.1 Sequence problems. AC010271 Genomic DNA No translation available. BC067266 mRNA Translation: AAH67266.1
CCDSⁱ	CCDS12556.1 [Q9BXM0-2] CCDS33028.1 [Q9BXM0-1]
RefSeqⁱ	NP_066007.1, NM_020956.2 [Q9BXM0-2] NP_870998.2, NM_181882.2 [Q9BXM0-1] XP_011525473.1, XM_011527171.2 [Q9BXM0-1]

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	4CMZ	X-ray	2.70	A/B/C	14-104	[»]
SMRⁱ	Q9BXM0
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	121739, 7 interactors
IntActⁱ	Q9BXM0, 11 interactors
STRINGⁱ	9606.ENSP00000326018

PTM databases

iPTMnetⁱ	Q9BXM0
PhosphoSitePlusⁱ	Q9BXM0

Polymorphism and mutation databases

BioMutaⁱ	PRX
DMDMⁱ	317373270

Proteomic databases

jPOSTⁱ	Q9BXM0
MassIVEⁱ	Q9BXM0
PaxDbⁱ	Q9BXM0
PeptideAtlasⁱ	Q9BXM0
PRIDEⁱ	Q9BXM0
ProteomicsDBⁱ	79452 [Q9BXM0-1] 79453 [Q9BXM0-2] 79454 [Q9BXM0-3]

Protocols and materials databases

Antibodypediaⁱ	959, 65 antibodies

Antibodypediaⁱ

959, 65 antibodies

Genome annotation databases

Ensemblⁱ	ENST00000291825; ENSP00000291825; ENSG00000105227 [Q9BXM0-2] ENST00000324001; ENSP00000326018; ENSG00000105227 [Q9BXM0-1] ENST00000673881; ENSP00000501070; ENSG00000105227 [Q9BXM0-3]
GeneIDⁱ	57716
KEGGⁱ	hsa:57716
UCSCⁱ	uc002onr.4, human [Q9BXM0-1]

Organism-specific databases

CTDⁱ	57716
DisGeNETⁱ	57716
EuPathDBⁱ	HostDB:ENSG00000105227.14
GeneCardsⁱ	PRX
GeneReviewsⁱ	PRX
HGNCⁱ	HGNC:13797, PRX
HPAⁱ	ENSG00000105227, Group enriched (brain, lung, retina)
MalaCardsⁱ	PRX
MIMⁱ	145900, phenotype 605725, gene 614895, phenotype
neXtProtⁱ	NX_Q9BXM0
OpenTargetsⁱ	ENSG00000105227
Orphanetⁱ	99952, Charcot-Marie-Tooth disease type 4F 64748, Dejerine-Sottas syndrome
PharmGKBⁱ	PA33843
HUGEⁱ	Search...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG502QS7Y, Eukaryota
GeneTreeⁱ	ENSGT00940000160366
HOGENOMⁱ	CLU_1758219_0_0_1
InParanoidⁱ	Q9BXM0
OMAⁱ	GPDVEMK
OrthoDBⁱ	1621899at2759
PhylomeDBⁱ	Q9BXM0
TreeFamⁱ	TF350595

Enzyme and pathway databases

PathwayCommonsⁱ	Q9BXM0
Reactomeⁱ	R-HSA-9619665, EGR2 and SOX10-mediated initiation of Schwann cell myelination [Q9BXM0-1]

Miscellaneous databases

BioGRID-ORCSⁱ	57716, 9 hits in 872 CRISPR screens
ChiTaRSⁱ	PRX, human
GeneWikiⁱ	PRX_(gene)
GenomeRNAiⁱ	57716
Pharosⁱ	Q9BXM0, Tbio
Protein Ontology More...PROⁱ	PR:Q9BXM0
RNActⁱ	Q9BXM0, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000105227, Expressed in trigeminal ganglion and 232 other tissues
Genevisibleⁱ	Q9BXM0, HS

Family and domain databases

Gene3Dⁱ	2.30.42.10, 1 hit
InterProⁱ	View protein in InterPro IPR001478, PDZ IPR036034, PDZ_sf
SMARTⁱ	View protein in SMART SM00228, PDZ, 1 hit
SUPFAMⁱ	SSF50156, SSF50156, 1 hit
PROSITEⁱ	View protein in PROSITE PS50106, PDZ, 1 hit
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	PRAX_HUMAN
Accessionⁱ	Q9BXM0Primary (citable) accession number: Q9BXM0 Secondary accession number(s): Q9BXL9, Q9HCF2
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	April 16, 2002
	Last sequence update:	January 11, 2011
	Last modified:	October 7, 2020
	This is version 176 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Reference proteome

Documents

Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM
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
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations

UniProtKB

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UniRef

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Supporting data

UniProtKB - Q9BXM0 (PRAX_HUMAN)

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Periaxin

PRX

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma membrane

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Other locations

Plasma membrane

Other locations

Nucleus

Plasma Membrane

Other locations

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Q9BXM0

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

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Motif

Compositional bias

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ