Q6UXI9 (NPNT_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 77.
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: Nephronectin Alternative name(s): Preosteoblast EGF-like repeat protein with MAM domain Protein EGFL6-like | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 565 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Functional ligand of integrin alpha-8/beta-1 in kidney development. Regulates the expression of GDNF with integrin alpha-8/beta-1 which is essential for kidney development. May also play a role in the development and function of various tissues, regulating cell adhesion, spreading and survival through the binding of several integrins By similarity. |
| Subunit structure | Homodimer and homotrimer By similarity. |
| Subcellular location | Secreted › extracellular space › extracellular matrix By similarity. Note: Trapped on the cell surface or in the extracellular matrix By similarity. |
| Tissue specificity | Expressed in kidney and lung and to a lower extent in brain, pregnant uterus, placenta, thyroid gland and blood vessels. Ref.5 |
| Developmental stage | Expressed in fetal kidney, cochlea, eye, heart and lung. Ref.5 |
| Domain | The MAM domain is required for localization at the cell surface By similarity. |
| Sequence similarities | Belongs to the nephronectin family. Contains 5 EGF-like domains. Contains 1 MAM domain. |
Ontologies
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6UXI9-1) 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: Q6UXI9-2) The sequence of this isoform differs from the canonical sequence as follows: 387-416: IPRQPSNDLFEIFEIERGVSADDEAKDDPG → S 535-564: VVFKGEKRRGHTGEIGLDDVSLKKGHCSEE → ESQ | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q6UXI9-3) The sequence of this isoform differs from the canonical sequence as follows: 88-88: Q → QDEHIPAPLDQGSEQPLFQPLDHQATSLPSR | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q6UXI9-4) The sequence of this isoform differs from the canonical sequence as follows: 88-88: Q → QDEHIPAPLDQGSEQPLFQPLDHQATSLPSR 387-416: IPRQPSNDLFEIFEIERGVSADDEAKDDPG → S | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q6UXI9-5) The sequence of this isoform differs from the canonical sequence as follows: 387-416: IPRQPSNDLFEIFEIERGVSADDEAKDDPG → S | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: Q6UXI9-6) The sequence of this isoform differs from the canonical sequence as follows: 58-58: P → PFYVLRQRIARIRCQLKA | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 19 | 19 | Potential | ||||||||
| Chain | 20 – 565 | 546 | Nephronectin | PRO_0000295684 | |||||||
Regions | |||||||||||
| Domain | 52 – 87 | 36 | EGF-like 1 | ||||||||
| Domain | 89 – 128 | 40 | EGF-like 2; calcium-binding Potential | ||||||||
| Domain | 132 – 168 | 37 | EGF-like 3 | ||||||||
| Domain | 169 – 213 | 45 | EGF-like 4; calcium-binding Potential | ||||||||
| Domain | 214 – 254 | 41 | EGF-like 5; calcium-binding Potential | ||||||||
| Domain | 420 – 563 | 144 | MAM | ||||||||
| Motif | 382 – 384 | 3 | Integrin interaction | ||||||||
| Compositional bias | 296 – 365 | 70 | Pro-rich | ||||||||
Amino acid modifications | |||||||||||
| Disulfide bond | 56 ↔ 69 | By similarity | |||||||||
| Disulfide bond | 60 ↔ 75 | By similarity | |||||||||
| Disulfide bond | 77 ↔ 86 | By similarity | |||||||||
| Disulfide bond | 93 ↔ 104 | By similarity | |||||||||
| Disulfide bond | 100 ↔ 113 | By similarity | |||||||||
| Disulfide bond | 115 ↔ 127 | By similarity | |||||||||
| Disulfide bond | 173 ↔ 186 | By similarity | |||||||||
| Disulfide bond | 180 ↔ 195 | By similarity | |||||||||
| Disulfide bond | 197 ↔ 212 | By similarity | |||||||||
| Disulfide bond | 218 ↔ 231 | By similarity | |||||||||
| Disulfide bond | 225 ↔ 240 | By similarity | |||||||||
| Disulfide bond | 242 ↔ 253 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 58 | 1 | P → PFYVLRQRIARIRCQLKA in isoform 6. | VSP_046131 | |||||||
| Alternative sequence | 88 | 1 | Q → QDEHIPAPLDQGSEQPLFQP LDHQATSLPSR in isoform 3 and isoform 4. | VSP_045813 | |||||||
| Alternative sequence | 387 – 416 | 30 | IPRQP…KDDPG → S in isoform 2, isoform 4 and isoform 5. | VSP_026987 | |||||||
| Alternative sequence | 535 – 564 | 30 | VVFKG…HCSEE → ESQ in isoform 2. | VSP_026988 | |||||||
| Natural variant | 159 | 1 | Q → H. Ref.1 Corresponds to variant rs35132891 [ dbSNP | Ensembl ]. | VAR_033314 | |||||||
| Natural variant | 234 | 1 | I → V. Ref.1 Ref.2 Ref.4 Corresponds to variant rs4340795 [ dbSNP | Ensembl ]. | VAR_033315 | |||||||
| Natural variant | 473 | 1 | G → S. Corresponds to variant rs35613262 [ dbSNP | Ensembl ]. | VAR_033316 | |||||||
| Natural variant | 476 | 1 | M → T. Corresponds to variant rs35488797 [ dbSNP | Ensembl ]. | VAR_033317 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 20 | 1 | E → K in BAG63765. Ref.2 | ||||||||
| Sequence conflict | 340 | 1 | T → A in BAG65139. Ref.2 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS HIS-159 AND VAL-234. |
| [2] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3; 4; 5 AND 6), VARIANT VAL-234. Tissue: Hippocampus, Testis, Trachea and Uterus. |
| [3] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT VAL-234. |
| [5] | "Identification and characterization of a novel human nephronectin gene in silico." Huang J.T.-J., Lee V. Int. J. Mol. Med. 15:719-724(2005) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY358336 mRNA. Translation: AAQ88702.1. AK290029 mRNA. Translation: BAF82718.1. AK295772 mRNA. Translation: BAG58596.1. AK302477 mRNA. Translation: BAG63765.1. AK304279 mRNA. Translation: BAG65139.1. AK304721 mRNA. Translation: BAG65484.1. AC093782 Genomic DNA. No translation available. AC109361 Genomic DNA. No translation available. CH471057 Genomic DNA. Translation: EAX06196.1. |
| IPI | IPI00157556. IPI00748819. IPI00910097. IPI00910888. IPI00940626. IPI00967557. |
| RefSeq | NP_001028219.1. NM_001033047.2. NP_001171619.1. NM_001184690.1. NP_001171620.1. NM_001184691.1. NP_001171621.1. NM_001184692.1. NP_001171622.1. NM_001184693.1. |
| UniGene | Hs.518921. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1UZK based on UniProtKB P35555. |
| ProteinModelPortal | Q6UXI9. |
| SMR | Q6UXI9. Positions 30-254, 422-562. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000369323. |
PTM databases | |
| PhosphoSite | Q6UXI9. |
Polymorphism databases | |
| DMDM | 311033424. |
Proteomic databases | |
| PaxDb | Q6UXI9. |
| PRIDE | Q6UXI9. |
Protocols and materials databases | |
| DNASU | 255743. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000305572; ENSP00000302557; ENSG00000168743. ENST00000379987; ENSP00000369323; ENSG00000168743. ENST00000427316; ENSP00000389252; ENSG00000168743. ENST00000453617; ENSP00000402884; ENSG00000168743. ENST00000506666; ENSP00000422474; ENSG00000168743. ENST00000514622; ENSP00000422044; ENSG00000168743. |
| GeneID | 255743. |
| KEGG | hsa:255743. |
| UCSC | uc003hya.3. human. |
Organism-specific databases | |
| CTD | 255743. |
| GeneCards | GC04P106816. |
| H-InvDB | HIX0004424. |
| HGNC | HGNC:27405. NPNT. |
| HPA | HPA003711. |
| MIM | 610306. gene. |
| neXtProt | NX_Q6UXI9. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG254583. |
| HOGENOM | HOG000059638. |
| HOVERGEN | HBG108200. |
| InParanoid | Q6UXI9. |
| KO | K06824. |
| OrthoDB | EOG473PR5. |
Gene expression databases | |
| ArrayExpress | Q6UXI9. |
| Bgee | Q6UXI9. |
| CleanEx | HS_NPNT. |
| Genevestigator | Q6UXI9. |
Family and domain databases | |
| InterPro | IPR008985. ConA-like_lec_gl_sf. IPR000742. EG-like_dom. IPR001881. EGF-like_Ca-bd. IPR013032. EGF-like_CS. IPR000152. EGF-type_Asp/Asn_hydroxyl_site. IPR018097. EGF_Ca-bd_CS. IPR000998. MAM_dom. [Graphical view] |
| Pfam | PF07645. EGF_CA. 3 hits. PF00629. MAM. 1 hit. [Graphical view] |
| SMART | SM00181. EGF. 3 hits. SM00179. EGF_CA. 2 hits. [Graphical view] |
| SUPFAM | SSF49899. ConA_like_lec_gl. 1 hit. |
| PROSITE | PS00010. ASX_HYDROXYL. 3 hits. PS00022. EGF_1. 1 hit. PS01186. EGF_2. 3 hits. PS50026. EGF_3. 4 hits. PS01187. EGF_CA. 3 hits. PS00740. MAM_1. False negative. PS50060. MAM_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | NPNT. human. |
| GenomeRNAi | 255743. |
| NextBio | 92630. |
| SOURCE | Search... |
Entry information
| Entry name | NPNT_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6UXI9 Secondary accession number(s): A6NFT9 E9PF04 | ||||||||
| Entry history |
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| 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 4 Human chromosome 4: 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
