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Reviewed, UniProtKB/Swiss-Prot Q9NZQ3 (SPN90_HUMAN)

Last modified February 9, 2010. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    NCK-interacting protein with SH3 domain
Alternative name(s):
    SH3 adapter protein SPIN90
    90 kDa SH3 protein interacting with Nck
    54 kDa VacA-interacting protein
      Short name=VIP54
    AF3p21
    Diaphanous protein-interacting protein
    Dia-interacting protein 1
      Short name=DIP-1
Gene names
Name: NCKIPSD
Synonyms: AF3P21, SPIN90
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length722 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

Has an important role in stress fiber formation induced by active diaphanous protein homolog 1 (DRF1). Induces microspike formation, in vivo By similarity. In vitro, stimulates N-WASP-induced ARP2/3 complex activation in the absence of CDC42 By similarity. May play an important role in the maintenance of sarcomeres and/or in the assembly of myofibrils into sarcomeres. Implicated in regulation of actin polymerization and cell adhesion.

Subunit structure

Associates with the intermediate filaments, vimentin and desmin. Binds the first and third SH3 domains of NCK. Binds the proline-rich domains of N-WASP through its SH3 domain By similarity. Similarly, binds diaphanous protein homolog 1 (DRF1). Binds the SH3 domains of GRB2 through its proline-rich domains.

Subcellular location

Nucleus. Note: Colocalizes with DRF1 at membrane ruffles, and with Nck at Z-disks in mature cardiac myocytes.

Tissue specificity

Highest expression in heart, brain, skeletal muscle, kidney and liver. Lower levels in placenta, lung, small intestine and leukocytes. Weak expression in colon, thymus and spleen.

Involvement in disease

A chromosomal aberration involving NCKIPSD/AF3p21 is found in therapy-related leukemia. Translocation t(3;11)(p21;q23) with MLL.

Sequence similarities

Contains 1 SH3 domain.

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Binary interactions

With

Entry

#Exp.

IntAct

Notes

ABL1P005191EBI-957585,EBI-375543
ACTR3P611571EBI-957585,EBI-351419From a different organism.
FASLGP480231EBI-957585,EBI-495538
FYNP062411EBI-957585,EBI-515315

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Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NZQ3-1)

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: Q9NZQ3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     656-722: LRMEYLSLMH...EFLVLGEAPS → GPFGAGQRPW...IDSAFGGRSV

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 722722NCK-interacting protein with SH3 domain
PRO_0000072130

Regions

Domain1 – 5858SH3
Motif175 – 19218Nuclear localization signal Potential
Compositional bias171 – 275105Pro-rich
Compositional bias197 – 24044Ser/Thr-rich
Compositional bias442 – 48746Leu-rich
Compositional bias534 – 60168Leu-rich

Sites

Site57 – 582Breakpoint for translocation to form MLL-AF3P21 oncogene

Amino acid modifications

Modified residue1811Phosphothreonine Ref.7

Natural variations

Alternative sequence656 – 72267LRMEY…GEAPS → GPFGAGQRPWPGVPRLLEPG STPSREPHPVERSGVPALTS SWASGCPRPLHPALQLVIDS AFGGRSV in isoform 2.
VSP_003971
Natural variant3241T → S: dbSNP rs6785620.
VAR_051378

Experimental info

Sequence conflict165 – 1717Missing in BAB63204. Ref.4
Sequence conflict165 – 1717Missing in BAB63205. Ref.4

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Sequences

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

Last modified October 1, 2000. Version 1.
Checksum: 7683046B94647332

FASTA72278,960
        10         20         30         40         50         60 
MYRALYAFRS AEPNALAFAA GETFLVLERS SAHWWLAARA RSGETGYVPP AYLRRLQGLE 

        70         80         90        100        110        120 
QDVLQAIDRA IEAVHNTAMR DGGKYSLEQR GVLQKLIHHR KETLSRRGPS ASSVAVMTSS 

       130        140        150        160        170        180 
TSDHHLDAAA ARQPNGVCRA GFERQHSLPS SEHLGADGGL YQIPLPSSQI PPQPRRAAPT 

       190        200        210        220        230        240 
TPPPPVKRRD REALMASGSG GHNTMPSGGN SVSSGSSVSS TSLDTLYTSS SPSEPGSSCS 

       250        260        270        280        290        300 
PTPPPVPRRG THTTVSQVQP PPSKASAPEP PAEEEVATGT TSASDDLEAL GTLSLGTTEE 

       310        320        330        340        350        360 
KAAAEAAVPR TIGAELMELV RRNTGLSHEL CRVAIGIIVG HIQASVPASS PVMEQVLLSL 

       370        380        390        400        410        420 
VEGKDLSMAL PSGQVCHDQQ RLEVIFADLA RRKDDAQQRS WALYEDEGVI RCYLEELLHI 

       430        440        450        460        470        480 
LTDADPEVCK KMCKRNEFES VLALVAYYQM EHRASLRLLL LKCFGAMCSL DAAIISTLVS 

       490        500        510        520        530        540 
SVLPVELARD MQTDTQDHQK LCYSALILAM VFSMGEAVPY AHYEHLGTPF AQFLLNIVED 

       550        560        570        580        590        600 
GLPLDTTEQL PDLCVNLLLA LNLHLPAADQ NVIMAALSKH ANVKIFSEKL LLLLNRGDDP 

       610        620        630        640        650        660 
VRIFKHEPQP PHSVLKFLQD VFGSPATAAI FYHTDMMALI DITVRHIADL SPGDKLRMEY 

       670        680        690        700        710        720 
LSLMHAIVRT TPYLQHRHRL PDLQAILRRI LNEEETSPQC QMDRMIVREM CKEFLVLGEA 


PS

« Hide

Isoform 2.

Checksum: BFC8DE473D3C2A4B
Show »

FASTA72277,931

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References

« Hide 'large scale' references
[1]"Novel SH3 protein encoded by the AF3p21 gene is fused to the mixed lineage leukemia protein in a therapy-related leukemia with t(3;11)(p21;q23)."
Sano K., Hayakawa A., Piao J.-H., Kosaka Y., Nakamura H.
Blood 95:1066-1068(2000) [PubMed: 10648423] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION WITH MLL.
Tissue: Leukemia.
[2]"Genomic organization, tissue expression and cellular localization of AF3p21, a fusion partner of MLL in therapy-related leukemia."
Hayakawa A., Matsuda Y., Daibata M., Nakamura H., Sano K.
Genes Chromosomes Cancer 30:364-374(2001) [PubMed: 11241789] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
Tissue: Cervix carcinoma.
[3]"SPIN90 (SH3 protein interacting with Nck, 90 kDa), an adapter protein that is developmentally regulated during cardiac myocyte differentiation."
Lim C.S., Park E.S., Kim D.J., Song Y.H., Eom S.H., Chun J.-S., Kim J.H., Kim J.-K., Park D., Song W.K.
J. Biol. Chem. 276:12871-12878(2001) [PubMed: 11278500] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Heart.
[4]"mDia-interacting protein acts downstream of rho-mDia and modifies src activation and stress fiber formation."
Satoh S., Tominaga T.
J. Biol. Chem. 276:39290-39294(2001) [PubMed: 11509578] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORMS 1 AND 2).
Tissue: Brain and Placenta.
[5]de Bernard M.
Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), SEQUENCE REVISION TO 223 AND 229.
[6]"The VacA toxin of Helicobacter pylori identifies a new intermediate filament-interacting protein."
de Bernard M., Moschioni M., Napolitani G., Rappuoli R., Montecucco C.
EMBO J. 19:48-56(2000) [PubMed: 10619843] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 223-722 (ISOFORM 2).
Tissue: Cervix carcinoma.
[7]"Phosphoproteome of resting human platelets."
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.
J. Proteome Res. 7:526-534(2008) [PubMed: 18088087] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-181, MASS SPECTROMETRY.
Tissue: Platelet.
[8]Colinge J., Superti-Furga G., Bennett K.L.
Submitted (OCT-2008) to UniProtKB
Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+Additional computationally mapped references.

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Cross-references

Sequence databases

EMBL
GenBank
DDBJ		AF178432 mRNA. Translation: AAF35985.1.
AF303581 mRNA. Translation: AAK09094.1.
AB069981 Genomic DNA. Translation: BAB63204.1.
AB069982 Genomic DNA. Translation: BAB63205.1.
AJ242655 mRNA. Translation: CAB65089.2.
IPIIPI00009319.
IPI00218563.
RefSeqNP_057537.1.
NP_909119.1.
UniGeneHs.655006

3D structure databases

SMRQ9NZQ3. Positions 1-61.
ModBaseSearch...

Protein-protein interaction databases

IntActQ9NZQ3. 5 interactions.
STRINGQ9NZQ3.

PTM databases

PhosphoSiteQ9NZQ3.

Proteomic databases

PRIDEQ9NZQ3.

Genome annotation databases

EnsemblENST00000294129; ENSP00000294129; ENSG00000213672; Homo sapiens. [Genome view]
GeneID51517.
KEGGhsa:51517.
UCSCuc003cun.1. human.

Organism-specific databases

CTD51517.
GeneCardsGC03M048675.
HGNCHGNC:15486. NCKIPSD.
HPACAB019267.
MIM606671. gene.
PharmGKBPA134872724.
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ9NZQ3.
OMACQMDRMI.

Gene expression databases

ArrayExpressQ9NZQ3.
BgeeQ9NZQ3.
CleanExHS_NCKIPSD.
GenevestigatorQ9NZQ3.
GermOnlineENSG00000008300. Homo sapiens.

Family and domain databases

InterProIPR018556. DUF2013.
IPR001452. SH3_domain.
[Graphical view]
PfamPF09431. DUF2013. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
SMARTSM00326. SH3. 1 hit.
[Graphical view]
PROSITEPS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio55214.
SOURCESearch...

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Entry information

Entry nameSPN90_HUMAN
AccessionPrimary (citable) accession number: Q9NZQ3
Secondary accession number(s): Q9UGM8
Entry history
Integrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: October 1, 2000
Last modified: February 9, 2010
This is version 80 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

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Relevant documents

Human chromosome 3

Human chromosome 3: 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

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents