Q9BXM0 (PRAX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Periaxin

Gene names

Name:	PRX
Synonyms:	KIAA1620

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

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

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.5
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	Dejerine-Sottas syndrome (DSS) [MIM:145900]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Charcot-Marie-Tooth disease 4F (CMT4F) [MIM:614895]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6
Sequence similarities	Belongs to the periaxin family. Contains 1 PDZ (DHR) domain.
Sequence caution	The sequence BAB13446.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAB13446.1 differs from that shown. Reason: Aberrant splicing.

Ontologies

Keywords
Cellular component	Cell membrane Cytoplasm Membrane Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Charcot-Marie-Tooth disease Dejerine-Sottas syndrome Disease mutation Neurodegeneration Neuropathy
Domain	Repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	axon ensheathment Non-traceable author statement Ref.1. Source: UniProtKB cell death Inferred from electronic annotation. Source: UniProtKB-KW
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
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
NCK1	P16333	2	EBI-1753064,EBI-389883

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.

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:
     1-139: Missing.

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	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
Natural variations
	Alternative sequence	1 – 139	139	Missing in isoform 3.		VSP_040352
	Alternative sequence	128 – 147	20	NIQSL…GALGV → VRVLSPAPALDCPSDPVSAP in isoform 2.		VSP_004363
	Alternative sequence	148 – 1461	1314	Missing in isoform 2.		VSP_004364
	Natural variant	406	1	A → T. Ref.1		VAR_013056
	Natural variant	495	1	E → Q. Ref.1		VAR_013057
	Natural variant	651	1	D → N in CMT4F. Ref.6		VAR_069093
	Natural variant	882	1	V → A. Ref.1 Ref.2 Corresponds to variant rs268671 [ dbSNP | Ensembl ].		VAR_013058
	Natural variant	921	1	I → M. Ref.1 Corresponds to variant rs268673 [ dbSNP | Ensembl ].		VAR_013059
	Natural variant	935	1	K → E. Ref.1		VAR_013060
	Natural variant	1083	1	P → R. Ref.1 Corresponds to variant rs3745202 [ dbSNP | Ensembl ].		VAR_013061
	Natural variant	1132	1	G → R. Ref.1 Ref.4 Corresponds to variant rs268674 [ dbSNP | Ensembl ].		VAR_013062
	Natural variant	1259	1	E → K. Ref.1		VAR_013063
	Natural variant	1359	1	Missing. Ref.1		VAR_013064
	Natural variant	1411	1	R → C. Ref.1		VAR_013065

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (L-periaxin) [UniParc]. Last modified January 11, 2011. Version 2. Checksum: 41F00C50B1DC3C7A	FASTA	1,461	154,905
	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 AGQVVTEGHD 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
	Isoform 2 (S-periaxin) [UniParc]. Checksum: ED181EF6C33F9128	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
	Isoform 3 [UniParc]. Checksum: 297EF1FBDE6B031F	FASTA	1,322	139,613
	10 20 30 40 50 60 MVPGALGVPA DLAPVDVEFS FPKFSRLRRG LKAEAVKGPV PAAPARRRLQ LPRLRVREVA 70 80 90 100 110 120 EEAQAARLAA AAPPPRKAKV EAEVAAGARF TAPQVELVGP RLPGAEVGVP QVSAPKAAPS 130 140 150 160 170 180 AEAAGGFALH LPTLGLGAPA PPAVEAPAVG IQVPQVELPA LPSLPTLPTL PCLETREGAV 190 200 210 220 230 240 SVVVPTLDVA APTVGVDLAL PGAEVEARGE APEVALKMPR LSFPRFGARA KEVAEAKVAK 250 260 270 280 290 300 VSPEARVKGP RLRMPTFGLS LLEPRPAAPE VVESKLKLPT IKMPSLGIGV SGPEVKVPKG 310 320 330 340 350 360 PEVKLPKAPE VKLPKVPEAA LPEVRLPEVE LPKVSEMKLP KVPEMAVPEV RLPEVELPKV 370 380 390 400 410 420 SEMKLPKVPE MAVPEVRLPE VQLLKVSEMK LPKVPEMAVP EVRLPEVQLP KVSEMKLPEV 430 440 450 460 470 480 SEVAVPEVRL PEVQLPKVPE MKVPEMKLPK VPEMKLPEMK LPEVQLPKVP EMAVPDVHLP 490 500 510 520 530 540 EVQLPKVPEM KLPEMKLPEV KLPKVPEMAV PDVHLPEVQL PKVPEMKLPK MPEMAVPEVR 550 560 570 580 590 600 LPEVQLPKVS EMKLPKVPEM AVPDVHLPEV QLPKVCEMKV PDMKLPEIKL PKVPEMAVPD 610 620 630 640 650 660 VHLPEVQLPK VSEIRLPEMQ VPKVPDVHLP KAPEVKLPRA PEVQLKATKA EQAEGMEFGF 670 680 690 700 710 720 KMPKMTMPKL GRAESPSRGK PGEAGAEVSG KLVTLPCLQP EVDGEAHVGV PSLTLPSVEL 730 740 750 760 770 780 DLPGALGLQG QVPAAKMGKG ERVEGPEVAA GVREVGFRVP SVEIVTPQLP AVEIEEGRLE 790 800 810 820 830 840 MIETKVKPSS KFSLPKFGLS GPKVAKAEAE GAGRATKLKV SKFAISLPKA RVGAEAEAKG 850 860 870 880 890 900 AGEAGLLPAL DLSIPQLSLD AHLPSGKVEV AGADLKFKGP RFALPKFGVR GRDTEAAELV 910 920 930 940 950 960 PGVAELEGKG WGWDGRVKMP KLKMPSFGLA RGKEAEVQGD RASPGEKAES TAVQLKIPEV 970 980 990 1000 1010 1020 ELVTLGAQEE GRAEGAVAVS GMQLSGLKVS TAGQVVTEGH DAGLRMPPLG ISLPQVELTG 1030 1040 1050 1060 1070 1080 FGEAGTPGQQ AQSTVPSAEG TAGYRVQVPQ VTLSLPGAQV AGGELLVGEG VFKMPTVTVP 1090 1100 1110 1120 1130 1140 QLELDVGLSR EAQAGEAATG EGGLRLKLPT LGARARVGGE GAEEQPPGAE RTFCLSLPDV 1150 1160 1170 1180 1190 1200 ELSPSGGNHA EYQVAEGEGE AGHKLKVRLP RFGLVRAKEG AEEGEKAKSP KLRLPRVGFS 1210 1220 1230 1240 1250 1260 QSEMVTGEGS PSPEEEEEEE EEGSGEGASG RRGRVRVRLP RVGLAAPSKA SRGQEGDAAP 1270 1280 1290 1300 1310 1320 KSPVREKSPK FRFPRVSLSP KARSGSGDQE EGGLRVRLPS VGFSETGAPG PARMEGAQAA AV

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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANTS THR-406; GLN-495; ALA-882; MET-921; GLU-935; ARG-1083; ARG-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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ALA-882. Tissue: Brain.
[3]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-1132. Tissue: PNS.
[5]	"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] [Europe PMC] [Abstract] Cited for: DISEASE, TISSUE SPECIFICITY.
[6]	"Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation." Tokunaga S., Hashiguchi A., Yoshimura A., Maeda K., Suzuki T., Haruki H., Nakamura T., Okamoto Y., Takashima H. Neurogenetics 13:359-365(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMT4F ASN-651.
+	Additional computationally mapped references.

Web resources

Inherited peripheral neuropathies mutation db

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00024853. IPI00221068. IPI00953550.
RefSeq	NP_066007.1. NM_020956.2. NP_870998.2. NM_181882.2.
UniGene	Hs.205457.
3D structure databases
ProteinModelPortal	Q9BXM0.
SMR	Q9BXM0. Positions 28-97.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BXM0. 5 interactions.
MINT	MINT-4538686.
STRING	9606.ENSP00000326018.
PTM databases
PhosphoSite	Q9BXM0.
Polymorphism databases
DMDM	20178033.
Proteomic databases
PaxDb	Q9BXM0.
PRIDE	Q9BXM0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000291825; ENSP00000291825; ENSG00000105227. ENST00000324001; ENSP00000326018; ENSG00000105227.
GeneID	57716.
KEGG	hsa:57716.
UCSC	uc002onq.3. human. uc002ons.3. human.
Organism-specific databases
CTD	57716.
GeneCards	GC19M040899.
H-InvDB	HIX0015135.
HGNC	HGNC:13797. PRX.
HPA	HPA001868.
MIM	145900. phenotype. 605725. gene. 614895. phenotype.
neXtProt	NX_Q9BXM0.
Orphanet	99952. Charcot-Marie-Tooth disease type 4F.
PharmGKB	PA33843.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG304081.
HOGENOM	HOG000168246.
HOVERGEN	HBG031836.
InParanoid	Q9BXM0.
OMA	LRMPTFG.
OrthoDB	EOG4BVRW4.
Gene expression databases
Bgee	Q9BXM0.
CleanEx	HS_PRX.
Genevestigator	Q9BXM0.
GermOnline	ENSG00000105227. Homo sapiens.
Family and domain databases
InterPro	IPR001478. PDZ. [Graphical view]
SMART	SM00228. PDZ. 1 hit. [Graphical view]
SUPFAM	SSF50156. PDZ. 1 hit.
PROSITE	PS50106. PDZ. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	57716.
NextBio	64638.
SOURCE	Search...

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:	January 11, 2011
Last modified:	May 1, 2013
This is version 118 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.