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Q6UXI9 (NPNT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nephronectin
Alternative name(s):
Preosteoblast EGF-like repeat protein with MAM domain
Protein EGFL6-like
Gene names
Name:NPNT
Synonyms:EGFL6L, POEM
ORF Names:UNQ295/PRO334
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length565 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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

Secretedextracellular spaceextracellular 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

Keywords
   Biological processCell adhesion
Differentiation
   Cellular componentExtracellular matrix
Secreted
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainEGF-like domain
Repeat
Signal
   LigandCalcium
   Molecular functionDevelopmental protein
   PTMDisulfide bond
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbranching involved in ureteric bud morphogenesis

Inferred from sequence or structural similarity Ref.5. Source: BHF-UCL

cell-cell adhesion mediated by integrin

Inferred from sequence or structural similarity Ref.5. Source: BHF-UCL

cell-matrix adhesion

Inferred from sequence or structural similarity Ref.5. Source: BHF-UCL

cellular response to tumor necrosis factor

Inferred from sequence or structural similarity Ref.5. Source: BHF-UCL

establishment of protein localization

Inferred from electronic annotation. Source: Ensembl

extracellular matrix organization

Inferred from sequence or structural similarity Ref.5. Source: BHF-UCL

pilomotor reflex

Inferred from electronic annotation. Source: Ensembl

positive regulation of ERK1 and ERK2 cascade

Inferred from sequence or structural similarity Ref.5. Source: BHF-UCL

positive regulation of alkaline phosphatase activity

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell-substrate adhesion

Inferred from sequence or structural similarity Ref.5. Source: BHF-UCL

positive regulation of osteoblast differentiation

Inferred from sequence or structural similarity Ref.5. Source: BHF-UCL

positive regulation of smooth muscle contraction

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of transforming growth factor beta receptor signaling pathway

Inferred from electronic annotation. Source: Ensembl

ureteric bud development

Inferred from sequence or structural similarity Ref.5. Source: BHF-UCL

   Cellular_componentalpha8-beta1 integrin complex

Inferred from electronic annotation. Source: Ensembl

basement membrane

Inferred from electronic annotation. Source: Ensembl

extracellular region

Inferred from sequence or structural similarity Ref.5. Source: BHF-UCL

extracellular vesicular exosome

Inferred from direct assay PubMed 19199708. Source: UniProt

proteinaceous extracellular matrix

Inferred from sequence or structural similarity. Source: BHF-UCL

smooth muscle contractile fiber

Inferred from electronic annotation. Source: Ensembl

   Molecular_functioncalcium ion binding

Inferred from electronic annotation. Source: InterPro

integrin binding

Inferred from sequence or structural similarity Ref.5. Source: BHF-UCL

Complete GO annotation...

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Potential
Chain20 – 565546Nephronectin
PRO_0000295684

Regions

Domain52 – 8736EGF-like 1
Domain89 – 12840EGF-like 2; calcium-binding Potential
Domain132 – 16837EGF-like 3
Domain169 – 21345EGF-like 4; calcium-binding Potential
Domain214 – 25441EGF-like 5; calcium-binding Potential
Domain420 – 563144MAM
Motif382 – 3843Integrin interaction
Compositional bias296 – 36570Pro-rich

Amino acid modifications

Disulfide bond56 ↔ 69 By similarity
Disulfide bond60 ↔ 75 By similarity
Disulfide bond77 ↔ 86 By similarity
Disulfide bond93 ↔ 104 By similarity
Disulfide bond100 ↔ 113 By similarity
Disulfide bond115 ↔ 127 By similarity
Disulfide bond173 ↔ 186 By similarity
Disulfide bond180 ↔ 195 By similarity
Disulfide bond197 ↔ 212 By similarity
Disulfide bond218 ↔ 231 By similarity
Disulfide bond225 ↔ 240 By similarity
Disulfide bond242 ↔ 253 By similarity

Natural variations

Alternative sequence581P → PFYVLRQRIARIRCQLKA in isoform 6.
VSP_046131
Alternative sequence881Q → QDEHIPAPLDQGSEQPLFQP LDHQATSLPSR in isoform 3 and isoform 4.
VSP_045813
Alternative sequence387 – 41630IPRQP…KDDPG → S in isoform 2, isoform 4 and isoform 5.
VSP_026987
Alternative sequence535 – 56430VVFKG…HCSEE → ESQ in isoform 2.
VSP_026988
Natural variant1591Q → H. Ref.1
Corresponds to variant rs35132891 [ dbSNP | Ensembl ].
VAR_033314
Natural variant2341I → V. Ref.1 Ref.2 Ref.4
Corresponds to variant rs4340795 [ dbSNP | Ensembl ].
VAR_033315
Natural variant4731G → S.
Corresponds to variant rs35613262 [ dbSNP | Ensembl ].
VAR_033316
Natural variant4761M → T.
Corresponds to variant rs35488797 [ dbSNP | Ensembl ].
VAR_033317

Experimental info

Sequence conflict201E → K in BAG63765. Ref.2
Sequence conflict3401T → A in BAG65139. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 2, 2010. Version 3.
Checksum: D4AB4C41B7D5A819

FASTA56561,907
        10         20         30         40         50         60 
MDFLLALVLV SSLYLQAAAE FDGRWPRQIV SSIGLCRYGG RIDCCWGWAR QSWGQCQPVC 

        70         80         90        100        110        120 
QPRCKHGECI GPNKCKCHPG YAGKTCNQDL NECGLKPRPC KHRCMNTYGS YKCYCLNGYM 

       130        140        150        160        170        180 
LMPDGSCSSA LTCSMANCQY GCDVVKGQIR CQCPSPGLQL APDGRTCVDV DECATGRASC 

       190        200        210        220        230        240 
PRFRQCVNTF GSYICKCHKG FDLMYIGGKY QCHDIDECSL GQYQCSSFAR CYNIRGSYKC 

       250        260        270        280        290        300 
KCKEGYQGDG LTCVYIPKVM IEPSGPIHVP KGNGTILKGD TGNNNWIPDV GSTWWPPKTP 

       310        320        330        340        350        360 
YIPPIITNRP TSKPTTRPTP KPTPIPTPPP PPPLPTELRT PLPPTTPERP TTGLTTIAPA 

       370        380        390        400        410        420 
ASTPPGGITV DNRVQTDPQK PRGDVFIPRQ PSNDLFEIFE IERGVSADDE AKDDPGVLVH 

       430        440        450        460        470        480 
SCNFDHGLCG WIREKDNDLH WEPIRDPAGG QYLTVSAAKA PGGKAARLVL PLGRLMHSGD 

       490        500        510        520        530        540 
LCLSFRHKVT GLHSGTLQVF VRKHGAHGAA LWGRNGGHGW RQTQITLRGA DIKSVVFKGE 

       550        560 
KRRGHTGEIG LDDVSLKKGH CSEER 

« Hide

Isoform 2 [UniParc].

Checksum: E3D7FB3650B7BA29
Show »

FASTA50955,702
Isoform 3 [UniParc].

Checksum: 2A44A7A18BEE77FC
Show »

FASTA59565,213
Isoform 4 [UniParc].

Checksum: B440DC01AB4FF573
Show »

FASTA56661,958
Isoform 5 [UniParc].

Checksum: 6DC363CBA70A8AA0
Show »

FASTA53658,651
Isoform 6 [UniParc].

Checksum: 256AD053250C578A
Show »

FASTA58264,023

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. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., 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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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.
RefSeqNP_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.
UniGeneHs.518921.

3D structure databases

ProteinModelPortalQ6UXI9.
SMRQ6UXI9. Positions 30-253, 422-562.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid129117. 1 interaction.
STRING9606.ENSP00000369323.

PTM databases

PhosphoSiteQ6UXI9.

Polymorphism databases

DMDM311033424.

Proteomic databases

PaxDbQ6UXI9.
PRIDEQ6UXI9.

Protocols and materials databases

DNASU255743.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000305572; ENSP00000302557; ENSG00000168743. [Q6UXI9-2]
ENST00000379987; ENSP00000369323; ENSG00000168743. [Q6UXI9-1]
ENST00000427316; ENSP00000389252; ENSG00000168743. [Q6UXI9-3]
ENST00000453617; ENSP00000402884; ENSG00000168743. [Q6UXI9-6]
ENST00000506666; ENSP00000422474; ENSG00000168743. [Q6UXI9-4]
ENST00000514622; ENSP00000422044; ENSG00000168743. [Q6UXI9-5]
GeneID255743.
KEGGhsa:255743.
UCSCuc003hya.3. human. [Q6UXI9-1]

Organism-specific databases

CTD255743.
GeneCardsGC04P106816.
H-InvDBHIX0004424.
HGNCHGNC:27405. NPNT.
HPAHPA003711.
MIM610306. gene.
neXtProtNX_Q6UXI9.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG254583.
HOGENOMHOG000059638.
HOVERGENHBG108200.
InParanoidQ6UXI9.
KOK06824.
OrthoDBEOG73RBB8.
PhylomeDBQ6UXI9.
TreeFamTF330819.

Gene expression databases

ArrayExpressQ6UXI9.
BgeeQ6UXI9.
CleanExHS_NPNT.
GenevestigatorQ6UXI9.

Family and domain databases

InterProIPR008985. ConA-like_lec_gl_sf.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
IPR000998. MAM_dom.
[Graphical view]
PfamPF07645. EGF_CA. 3 hits.
PF00629. MAM. 1 hit.
[Graphical view]
SMARTSM00181. EGF. 3 hits.
SM00179. EGF_CA. 2 hits.
[Graphical view]
SUPFAMSSF49899. SSF49899. 1 hit.
SSF57184. SSF57184. 2 hits.
PROSITEPS00010. ASX_HYDROXYL. 3 hits.
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 3 hits.
PS50026. EGF_3. 4 hits.
PS01187. EGF_CA. 3 hits.
PS50060. MAM_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNPNT. human.
GenomeRNAi255743.
NextBio92630.
PROQ6UXI9.
SOURCESearch...

Entry information

Entry nameNPNT_HUMAN
AccessionPrimary (citable) accession number: Q6UXI9
Secondary accession number(s): A6NFT9 expand/collapse secondary AC list , A8K1W4, B4DIT4, B4DYK3, B4E2H7, B4E3H2, D6RCA1, E9PCK8, E9PCQ1, E9PE64, E9PF04
Entry history
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: November 2, 2010
Last modified: April 16, 2014
This is version 86 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM