Q8NEY1 (NAV1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 81.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Neuron navigator 1 Alternative name(s): Pore membrane and/or filament-interacting-like protein 3 Steerin-1 Unc-53 homolog 1 Short name=unc53H1 | ||||
| Gene names |
| ||||
| 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 | 1877 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May be involved in neuronal migration By similarity. |
| Subunit structure | Interacts with tubulin By similarity. |
| Subcellular location | Cytoplasm › cytoskeleton By similarity. Note: Associates with a subset of microtubule plus ends. Enriched in neuronal growth cones By similarity. |
| Tissue specificity | Broadly expressed at low levels. Expressed at high levels in heart, skeletal muscle and placenta. Ref.1 Ref.2 |
| Developmental stage | Expressed in fetal brain and heart. Ref.1 |
| Sequence similarities | Belongs to the Nav/unc-53 family. |
| Sequence caution | The sequence AAH07523.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB14136.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB14142.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB14865.1 differs from that shown. Reason: Erroneous initiation. The sequence CAH71925.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI17010.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Differentiation Neurogenesis |
| Cellular component | Cytoplasm Cytoskeleton Microtubule |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| Molecular function | Developmental protein |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW microtubuleInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | nucleoside-triphosphatase activity Inferred from electronic annotation. Source: InterPro nucleotide bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NEY1-1) 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: Q8NEY1-2) The sequence of this isoform differs from the canonical sequence as follows: 1074-1081: Missing. | ||||||
| Isoform 3 (identifier: Q8NEY1-3) The sequence of this isoform differs from the canonical sequence as follows: 1214-1216: Missing. | ||||||
| Isoform 4 (identifier: Q8NEY1-4) The sequence of this isoform differs from the canonical sequence as follows: 999-1055: Missing. 1214-1216: Missing. | ||||||
| Isoform 5 (identifier: Q8NEY1-5) The sequence of this isoform differs from the canonical sequence as follows: 1-389: Missing. 390-409: MSDSDLMGKTMTEDDDITTG → MLHLPLPRSGRTVNFPRS 1214-1216: Missing. | ||||||
| Isoform 6 (identifier: Q8NEY1-6) The sequence of this isoform differs from the canonical sequence as follows: 1074-1081: Missing. 1173-1198: ELRIKRQNSSDSISSLNSITSHSSIG → GRTSSHRLRGNREQESKSITDFYLGP 1199-1877: Missing. | ||||||
| Isoform 7 (identifier: Q8NEY1-7) The sequence of this isoform differs from the canonical sequence as follows: 999-1055: Missing. 1074-1081: Missing. 1214-1216: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1877 | 1877 | Neuron navigator 1 | PRO_0000286974 | |||||
Regions | |||||||||
| Coiled coil | 255 – 280 | 26 | Potential | ||||||
| Coiled coil | 731 – 756 | 26 | Potential | ||||||
| Coiled coil | 1072 – 1163 | 92 | Potential | ||||||
| Coiled coil | 1303 – 1362 | 60 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 142 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 152 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 159 | 1 | Phosphothreonine Ref.9 | ||||||
| Modified residue | 199 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 296 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 308 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 311 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 391 | 1 | Phosphoserine Ref.9 Ref.10 | ||||||
| Modified residue | 452 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 534 | 1 | Phosphothreonine Ref.9 | ||||||
| Modified residue | 541 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 572 | 1 | Phosphothreonine Ref.9 | ||||||
| Modified residue | 726 | 1 | Phosphothreonine Ref.8 | ||||||
| Modified residue | 750 | 1 | Phosphoserine Ref.11 | ||||||
| Modified residue | 760 | 1 | Phosphoserine Ref.9 Ref.10 | ||||||
| Modified residue | 808 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 1000 | 1 | Phosphoserine Ref.10 | ||||||
| Modified residue | 1002 | 1 | Phosphothreonine Ref.10 | ||||||
| Modified residue | 1170 | 1 | Phosphothreonine Ref.9 | ||||||
| Modified residue | 1181 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 1253 | 1 | Phosphoserine Ref.10 | ||||||
| Modified residue | 1382 | 1 | Phosphoserine Ref.9 Ref.10 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 389 | 389 | Missing in isoform 5. | VSP_025253 | |||||
| Alternative sequence | 390 – 409 | 20 | MSDSD…DITTG → MLHLPLPRSGRTVNFPRS in isoform 5. | VSP_025254 | |||||
| Alternative sequence | 999 – 1055 | 57 | Missing in isoform 4 and isoform 7. | VSP_025255 | |||||
| Alternative sequence | 1074 – 1081 | 8 | Missing in isoform 2, isoform 6 and isoform 7. | VSP_025256 | |||||
| Alternative sequence | 1173 – 1198 | 26 | ELRIK…HSSIG → GRTSSHRLRGNREQESKSIT DFYLGP in isoform 6. | VSP_025257 | |||||
| Alternative sequence | 1199 – 1877 | 679 | Missing in isoform 6. | VSP_025258 | |||||
| Alternative sequence | 1214 – 1216 | 3 | Missing in isoform 3, isoform 4, isoform 5 and isoform 7. | VSP_025259 | |||||
| Natural variant | 937 | 1 | Q → H. Corresponds to variant rs16849342 [ dbSNP | Ensembl ]. | VAR_032245 | |||||
| Natural variant | 1273 | 1 | S → L. Ref.2 Corresponds to variant rs2820289 [ dbSNP | Ensembl ]. | VAR_032246 | |||||
| Natural variant | 1290 | 1 | H → D. Corresponds to variant rs2292822 [ dbSNP | Ensembl ]. | VAR_032247 | |||||
| Natural variant | 1527 | 1 | V → I. Corresponds to variant rs16849379 [ dbSNP | Ensembl ]. | VAR_032248 | |||||
Experimental info | |||||||||
| Sequence conflict | 267 – 269 | 3 | DLR → FLW in BAA86465. Ref.5 | ||||||
| Sequence conflict | 417 | 1 | S → R in AAL05591. Ref.2 | ||||||
| Sequence conflict | 508 | 1 | C → R in BAB14142. Ref.6 | ||||||
| Sequence conflict | 964 | 1 | S → P in BAB14142. Ref.6 | ||||||
| Sequence conflict | 1092 | 1 | S → L in BAB14142. Ref.6 | ||||||
| Sequence conflict | 1109 | 1 | N → S in BAB14142. Ref.6 | ||||||
| Sequence conflict | 1793 | 1 | E → K in BAB14865. Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Pore membrane and/or filament interacting like protein 1 (POMFIL1) is predominantly expressed in the nervous system and encodes different protein isoforms." Coy J.F., Wiemann S., Bechmann I., Baechner D., Nitsch R., Kretz O., Christiansen H., Poustka A. Gene 290:73-94(2002) [PubMed: 12062803] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE. |
| [2] | "Neuron navigator: a human gene family with homology to unc-53, a cell guidance gene from Caenorhabditis elegans." Maes T., Barcelo A., Buesa C. Genomics 80:21-30(2002) [PubMed: 12079279] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT LEU-1273, TISSUE SPECIFICITY. |
| [3] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "Sensory deficits in mice hypomorphic for a mammalian homologue of unc-53." Peeters P.J., Baker A., Goris I., Daneels G., Verhasselt P., Luyten W.H.M.L., Geysen J.J.G.H., Kass S.U., Moechars D.W.E. Brain Res. Dev. Brain Res. 150:89-101(2004) [PubMed: 15158073] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-409, NUCLEOTIDE SEQUENCE [MRNA] OF 42-1877 (ISOFORM 1). |
| [5] | "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain." Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O. DNA Res. 6:329-336(1999) [PubMed: 10574461] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 108-1877 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 707-1877 (ISOFORM 6). Tissue: Brain. |
| [6] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 445-1205 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1161-1877 (ISOFORM 3). |
| [7] | "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 1122-1877 (ISOFORM 3). Tissue: Skin. |
| [8] | "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis." Wang B., Malik R., Nigg E.A., Korner R. Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-726, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [9] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-152; THR-159; SER-199; SER-296; SER-308; SER-311; SER-391; SER-452; THR-534; SER-541; THR-572; SER-760; SER-808; THR-1170; SER-1181 AND SER-1382, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-391; SER-760; SER-1000; THR-1002; SER-1253 AND SER-1382, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [11] | "Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed: 19369195] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-750, MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY043013 mRNA. Translation: AAL05591.1. AL512788, AC092800, AL645504 Genomic DNA. Translation: CAH71925.1. Sequence problems. AL645504, AC092800, AL512788 Genomic DNA. Translation: CAI17010.1. Sequence problems. AL645504 Genomic DNA. Translation: CAI17011.1. AL645504 Genomic DNA. Translation: CAI17012.1. AL645504 Genomic DNA. Translation: CAI17013.1. AL645504, AC092800 Genomic DNA. Translation: CAI17014.1. AC096677 Genomic DNA. No translation available. AJ251973 Genomic DNA. Translation: CAB66088.1. AJ488101 mRNA. Translation: CAD32470.1. AB032977 mRNA. Translation: BAA86465.3. AB033039 mRNA. Translation: BAA86527.1. AK022622 mRNA. Translation: BAB14136.1. Different initiation. AK022631 mRNA. Translation: BAB14142.1. Different initiation. AK024265 mRNA. Translation: BAB14865.1. Different initiation. BC007523 mRNA. Translation: AAH07523.1. Different initiation. |
| IPI | IPI00171636. IPI00550839. IPI00641075. IPI00641137. IPI00845310. IPI00845401. IPI00845471. |
| RefSeq | NP_001161210.1. NM_001167738.1. NP_065176.3. NM_020443.4. |
| UniGene | Hs.585374. |
3D structure databases | |
| ProteinModelPortal | Q8NEY1. |
| SMR | Q8NEY1. Positions 1554-1646. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8NEY1. 2 interactions. |
| STRING | Q8NEY1. |
PTM databases | |
| PhosphoSite | Q8NEY1. |
Polymorphism databases | |
| DMDM | 147704557. |
Proteomic databases | |
| PRIDE | Q8NEY1. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000367296; ENSP00000356265; ENSG00000134369. |
| GeneID | 89796. |
| KEGG | hsa:89796. |
| UCSC | uc001gwu.2. human. uc001gwx.2. human. |
Organism-specific databases | |
| CTD | 89796. |
| GeneCards | GC01P201595. |
| H-InvDB | HIX0001462. |
| HGNC | HGNC:15989. NAV1. |
| HPA | CAB012302. HPA018127. HPA027887. |
| MIM | 611628. gene. |
| neXtProt | NX_Q8NEY1. |
| PharmGKB | PA31451. |
| HUGE | Search... Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00530000063334. |
| HOVERGEN | HBG058814. |
| InParanoid | Q8NEY1. |
| OMA | ETEELTW. |
| PhylomeDB | Q8NEY1. |
Gene expression databases | |
| ArrayExpress | Q8NEY1. |
| Bgee | Q8NEY1. |
| Genevestigator | Q8NEY1. |
Family and domain databases | |
| InterPro | IPR003593. ATPase_AAA+_core. [Graphical view] |
| SMART | SM00382. AAA. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 76289. |
| SOURCE | Search... |
Entry information
| Entry name | NAV1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NEY1 Secondary accession number(s): A8MS88 Q9ULR9 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: 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 |

Clusters with