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Protein

Neuron navigator 3

Gene

NAV3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May regulate IL2 production by T-cells. May be involved in neuron regeneration.1 Publication

GO - Molecular functioni

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Neuron navigator 3
Alternative name(s):
Pore membrane and/or filament-interacting-like protein 1
Steerin-3
Unc-53 homolog 3
Short name:
unc53H3
Gene namesi
Name:NAV3
Synonyms:KIAA0938, POMFIL1, STEERIN3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:15998. NAV3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration disrupting NAV3 has been found in patients with Sezary syndrome (PubMed:16166283). Translocation t(12;18)(q21;q21.2) (PubMed:16166283).

Organism-specific databases

DisGeNETi89795.
OpenTargetsiENSG00000067798.
PharmGKBiPA31453.

Polymorphism and mutation databases

BioMutaiNAV3.
DMDMi313104213.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002869761 – 2385Neuron navigator 3Add BLAST2385

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1459PhosphoserineCombined sources1
Modified residuei1463PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8IVL0.
PaxDbiQ8IVL0.
PeptideAtlasiQ8IVL0.
PRIDEiQ8IVL0.

PTM databases

iPTMnetiQ8IVL0.
PhosphoSitePlusiQ8IVL0.
SwissPalmiQ8IVL0.

Expressioni

Tissue specificityi

Highly expressed in brain. Expressed at low levels in heart and placenta. Present in activated T-cells but not in resting T-cells (at protein level). Down-regulated in primary neuroblastoma.4 Publications

Developmental stagei

Expressed in fetal brain.1 Publication

Gene expression databases

BgeeiENSG00000067798.
CleanExiHS_NAV3.
ExpressionAtlasiQ8IVL0. baseline and differential.
GenevisibleiQ8IVL0. HS.

Organism-specific databases

HPAiCAB037063.
HPA032111.
HPA032112.

Interactioni

Protein-protein interaction databases

BioGridi124604. 5 interactors.
IntActiQ8IVL0. 3 interactors.
STRINGi9606.ENSP00000446132.

Structurei

3D structure databases

ProteinModelPortaliQ8IVL0.
SMRiQ8IVL0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini77 – 184CHPROSITE-ProRule annotationAdd BLAST108

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili679 – 707Sequence analysisAdd BLAST29
Coiled coili1562 – 1653Sequence analysisAdd BLAST92
Coiled coili1794 – 1861Sequence analysisAdd BLAST68

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi618 – 621Poly-Gln4
Compositional biasi1032 – 1560Ser-richAdd BLAST529
Compositional biasi1694 – 1699Poly-Lys6
Compositional biasi1867 – 1885Ser-richAdd BLAST19

Sequence similaritiesi

Belongs to the Nav/unc-53 family.Curated
Contains 1 CH (calponin-homology) domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGVF. Eukaryota.
ENOG410XRG8. LUCA.
GeneTreeiENSGT00530000063334.
HOGENOMiHOG000293189.
HOVERGENiHBG058814.
InParanoidiQ8IVL0.
OMAiSRICECT.
OrthoDBiEOG091G03NO.
PhylomeDBiQ8IVL0.
TreeFamiTF329881.

Family and domain databases

CDDicd00014. CH. 1 hit.
Gene3Di1.10.418.10. 1 hit.
3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR001715. CH-domain.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00004. AAA. 1 hit.
PF00307. CH. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
SM00033. CH. 1 hit.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.
SSF52540. SSF52540. 3 hits.
PROSITEiPS50021. CH. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8IVL0-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MPVLGVASKL RQPAVGSKPV HTALPIPNLG TTGSQHCSSR PLELTETESS
60 70 80 90 100
MLSCQLALKS TCEFGEKKPL QGKAKEKEDS KIYTDWANHY LAKSGHKRLI
110 120 130 140 150
KDLQQDIADG VLLAEIIQII ANEKVEDING CPRSQSQMIE NVDVCLSFLA
160 170 180 190 200
ARGVNVQGLS AEEIRNGNLK AILGLFFSLS RYKQQQHHQQ QYYQSLVELQ
210 220 230 240 250
QRVTHASPPS EASQAKTQQD MQSSLAARYA TQSNHSGIAT SQKKPTRLPG
260 270 280 290 300
PSRVPAAGSS SKVQGASNLN RRSQSFNSID KNKPPNYANG NEKDSSKGPQ
310 320 330 340 350
SSSGVNGNVQ PPSTAGQPPA SAIPSPSASK PWRSKSMNVK HSATSTMLTV
360 370 380 390 400
KQSSTATSPT PSSDRLKPPV SEGVKTAPSG QKSMLEKFKL VNARTALRPP
410 420 430 440 450
QPPSSGPSDG GKDDDAFSES GEMEGFNSGL NSGGSTNSSP KVSPKLAPPK
460 470 480 490 500
AGSKNLSNKK SLLQPKEKEE KNRDKNKVCT EKPVKEEKDQ VTEMAPKKTS
510 520 530 540 550
KIASLIPKGS KTTAAKKESL IPSSSGIPKP GSKVPTVKQT ISPGSTASKE
560 570 580 590 600
SEKFRTTKGS PSQSLSKPIT MEKASASSCP APLEGREAGQ ASPSGSCTMT
610 620 630 640 650
VAQSSGQSTG NGAVQLPQQQ QHSHPNTATV APFIYRAHSE NEGTALPSAD
660 670 680 690 700
SCTSPTKMDL SYSKTAKQCL EEISGEDPET RRMRTVKNIA DLRQNLEETM
710 720 730 740 750
SSLRGTQISH STLETTFDST VTTEVNGRTI PNLTSRPTPM TWRLGQACPR
760 770 780 790 800
LQAGDAPSLG AGYPRSGTSR FIHTDPSRFM YTTPLRRAAV SRLGNMSQID
810 820 830 840 850
MSEKASSDLD MSSEVDVGGY MSDGDILGKS LRTDDINSGY MTDGGLNLYT
860 870 880 890 900
RSLNRIPDTA TSRDIIQRGV HDVTVDADSW DDSSSVSSGL SDTLDNISTD
910 920 930 940 950
DLNTTSSVSS YSNITVPSRK NTQLRTDSEK RSTTDETWDS PEELKKPEED
960 970 980 990 1000
FDSHGDAGGK WKTVSSGLPE DPEKAGQKAS LSVSQTGSWR RGMSAQGGAP
1010 1020 1030 1040 1050
SRQKAGTSAL KTPGKTDDAK ASEKGKAPLK GSSLQRSPSD AGKSSGDEGK
1060 1070 1080 1090 1100
KPPSGIGRST ATSSFGFKKP SGVGSSAMIT SSGATITSGS ATLGKIPKSA
1110 1120 1130 1140 1150
AIGGKSNAGR KTSLDGSQNQ DDVVLHVSSK TTLQYRSLPR PSKSSTSGIP
1160 1170 1180 1190 1200
GRGGHRSSTS SIDSNVSSKS AGATTSKLRE PTKIGSGRSS PVTVNQTDKE
1210 1220 1230 1240 1250
KEKVAVSDSE SVSLSGSPKS SPTSASACGA QGLRQPGSKY PDIASPTFRR
1260 1270 1280 1290 1300
LFGAKAGGKS ASAPNTEGVK SSSVMPSPST TLARQGSLES PSSGTGSMGS
1310 1320 1330 1340 1350
AGGLSGSSSP LFNKPSDLTT DVISLSHSLA SSPASVHSFT SGGLVWAANM
1360 1370 1380 1390 1400
SSSSAGSKDT PSYQSMTSLH TSSESIDLPL SHHGSLSGLT TGTHEVQSLL
1410 1420 1430 1440 1450
MRTGSVRSTL SESMQLDRNT LPKKGLRYTP SSRQANQEEG KEWLRSHSTG
1460 1470 1480 1490 1500
GLQDTGNQSP LVSPSAMSSS AAGKYHFSNL VSPTNLSQFN LPGPSMMRSN
1510 1520 1530 1540 1550
SIPAQDSSFD LYDDSQLCGS ATSLEERPRA ISHSGSFRDS MEEVHGSSLS
1560 1570 1580 1590 1600
LVSSTSSLYS TAEEKAHSEQ IHKLRRELVA SQEKVATLTS QLSANAHLVA
1610 1620 1630 1640 1650
AFEKSLGNMT GRLQSLTMTA EQKESELIEL RETIEMLKAQ NSAAQAAIQG
1660 1670 1680 1690 1700
ALNGPDHPPK DLRIRRQHSS ESVSSINSAT SHSSIGSGND ADSKKKKKKN
1710 1720 1730 1740 1750
WVNSRGSELR SSFKQAFGKK KSTKPPSSHS DIEELTDSSL PASPKLPHNA
1760 1770 1780 1790 1800
GDCGSASMKP SQSASASPLV WPPKKRQNGP VIYKHRSRIC ECTEAEAEII
1810 1820 1830 1840 1850
LQLKSELREK ELKLTDIRLE ALSSAHHLDQ IREAMNRMQN EIEILKAEND
1860 1870 1880 1890 1900
RLKAETGNTA KPTRPPSESS SSTSSSSSRQ SLGLSLNNLN ITEAVSSDIL
1910 1920 1930 1940 1950
LDDAGDATGH KDGRSVKIIV SISKGYGRAK DQKSQAYLIG SIGVSGKTKW
1960 1970 1980 1990 2000
DVLDGVIRRL FKEYVFRIDT STSLGLSSDC IASYCIGDLI RSHNLEVPEL
2010 2020 2030 2040 2050
LPCGYLVGDN NIITVNLKGV EENSLDSFVF DTLIPKPITQ RYFNLLMEHH
2060 2070 2080 2090 2100
RIILSGPSGT GKTYLANKLA EYVITKSGRK KTEDAIATFN VDHKSSKELQ
2110 2120 2130 2140 2150
QYLANLAEQC SADNNGVELP VVIILDNLHH VGSLSDIFNG FLNCKYNKCP
2160 2170 2180 2190 2200
YIIGTMNQGV SSSPNLELHH NFRWVLCANH TEPVKGFLGR YLRRKLIEIE
2210 2220 2230 2240 2250
IERNIRNNDL VKIIDWIPKT WHHLNSFLET HSSSDVTIGP RLFLPCPMDV
2260 2270 2280 2290 2300
EGSRVWFMDL WNYSLVPYIL EAVREGLQMY GKRTPWEDPS KWVLDTYPWS
2310 2320 2330 2340 2350
SATLPQESPA LLQLRPEDVG YESCTSTKEA TTSKHIPQTD TEGDPLMNML
2360 2370 2380
MKLQEAANYS STQSCDSEST SHHEDILDSS LESTL
Length:2,385
Mass (Da):255,648
Last modified:November 30, 2010 - v3
Checksum:i23706AF34D2018FA
GO
Isoform 2 (identifier: Q8IVL0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1767-1788: Missing.

Show »
Length:2,363
Mass (Da):253,022
Checksum:iA0725B26F7F45B0F
GO
Isoform 3 (identifier: Q8IVL0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1250-1426: Missing.
     1767-1788: Missing.

Show »
Length:2,186
Mass (Da):235,196
Checksum:iED7A149D6337D84A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti677D → G in CAD32554 (PubMed:15158073).Curated1
Sequence conflicti924L → V in AAM73757 (PubMed:12079279).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03224945T → A.1 PublicationCorresponds to variant rs10735309dbSNPEnsembl.1
Natural variantiVAR_032250210S → W.Corresponds to variant rs34195711dbSNPEnsembl.1
Natural variantiVAR_0322512200E → K in a patient with Sezary syndrome. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0252681250 – 1426Missing in isoform 3. 1 PublicationAdd BLAST177
Alternative sequenceiVSP_0252691767 – 1788Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST22

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ488201 mRNA. Translation: CAD32554.1.
AC073571 Genomic DNA. No translation available.
AC073608 Genomic DNA. No translation available.
AC078822 Genomic DNA. No translation available.
AC090020 Genomic DNA. No translation available.
AC138331 Genomic DNA. No translation available.
AF397731 mRNA. Translation: AAM73757.1.
AB023155 mRNA. Translation: BAA76782.2.
CCDSiCCDS41815.1. [Q8IVL0-2]
CCDS66432.1. [Q8IVL0-1]
RefSeqiNP_001019554.1. NM_001024383.1. [Q8IVL0-1]
NP_055718.4. NM_014903.5. [Q8IVL0-2]
XP_011537246.1. XM_011538944.2. [Q8IVL0-3]
UniGeneiHs.655301.

Genome annotation databases

EnsembliENST00000397909; ENSP00000381007; ENSG00000067798. [Q8IVL0-1]
ENST00000536525; ENSP00000446132; ENSG00000067798. [Q8IVL0-2]
GeneIDi89795.
KEGGihsa:89795.
UCSCiuc001syo.5. human. [Q8IVL0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ488201 mRNA. Translation: CAD32554.1.
AC073571 Genomic DNA. No translation available.
AC073608 Genomic DNA. No translation available.
AC078822 Genomic DNA. No translation available.
AC090020 Genomic DNA. No translation available.
AC138331 Genomic DNA. No translation available.
AF397731 mRNA. Translation: AAM73757.1.
AB023155 mRNA. Translation: BAA76782.2.
CCDSiCCDS41815.1. [Q8IVL0-2]
CCDS66432.1. [Q8IVL0-1]
RefSeqiNP_001019554.1. NM_001024383.1. [Q8IVL0-1]
NP_055718.4. NM_014903.5. [Q8IVL0-2]
XP_011537246.1. XM_011538944.2. [Q8IVL0-3]
UniGeneiHs.655301.

3D structure databases

ProteinModelPortaliQ8IVL0.
SMRiQ8IVL0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124604. 5 interactors.
IntActiQ8IVL0. 3 interactors.
STRINGi9606.ENSP00000446132.

PTM databases

iPTMnetiQ8IVL0.
PhosphoSitePlusiQ8IVL0.
SwissPalmiQ8IVL0.

Polymorphism and mutation databases

BioMutaiNAV3.
DMDMi313104213.

Proteomic databases

MaxQBiQ8IVL0.
PaxDbiQ8IVL0.
PeptideAtlasiQ8IVL0.
PRIDEiQ8IVL0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000397909; ENSP00000381007; ENSG00000067798. [Q8IVL0-1]
ENST00000536525; ENSP00000446132; ENSG00000067798. [Q8IVL0-2]
GeneIDi89795.
KEGGihsa:89795.
UCSCiuc001syo.5. human. [Q8IVL0-1]

Organism-specific databases

CTDi89795.
DisGeNETi89795.
GeneCardsiNAV3.
HGNCiHGNC:15998. NAV3.
HPAiCAB037063.
HPA032111.
HPA032112.
MIMi611629. gene.
neXtProtiNX_Q8IVL0.
OpenTargetsiENSG00000067798.
PharmGKBiPA31453.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGVF. Eukaryota.
ENOG410XRG8. LUCA.
GeneTreeiENSGT00530000063334.
HOGENOMiHOG000293189.
HOVERGENiHBG058814.
InParanoidiQ8IVL0.
OMAiSRICECT.
OrthoDBiEOG091G03NO.
PhylomeDBiQ8IVL0.
TreeFamiTF329881.

Miscellaneous databases

ChiTaRSiNAV3. human.
GenomeRNAii89795.
PROiQ8IVL0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000067798.
CleanExiHS_NAV3.
ExpressionAtlasiQ8IVL0. baseline and differential.
GenevisibleiQ8IVL0. HS.

Family and domain databases

CDDicd00014. CH. 1 hit.
Gene3Di1.10.418.10. 1 hit.
3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR001715. CH-domain.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00004. AAA. 1 hit.
PF00307. CH. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
SM00033. CH. 1 hit.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.
SSF52540. SSF52540. 3 hits.
PROSITEiPS50021. CH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNAV3_HUMAN
AccessioniPrimary (citable) accession number: Q8IVL0
Secondary accession number(s): Q8NFW7, Q9Y2E7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: November 30, 2010
Last modified: November 30, 2016
This is version 111 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.