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Q92802 (N42L2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | 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:
NEDD4-binding protein 2-like 2
Alternative name(s):
Phosphonoformate immuno-associated protein 5
Gene names
Name:N4BP2L2
Synonyms:CG005, PFAAP5
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length583 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Post-translational modification

Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.9

Sequence caution

The sequence AAI31632.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin in the N-terminal part.

The sequence BP361938 differs from that shown. Reason: Frameshift at several positions.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q92802-1)

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: Q92802-2)

The sequence of this isoform differs from the canonical sequence as follows:
     567-583: WGGSLGSHNRVCVTNNH → FDRKLKRWEE...SVEKRQKKIG
Note: No experimental confirmation available.
Isoform 3 (identifier: Q92802-3)

The sequence of this isoform differs from the canonical sequence as follows:
     8-32: GKFLGPREEVTSEPRCKKLKSTTES → EFCLVRIVMALCSALMTIFTIKMGT
     33-461: Missing.
     566-583: RWGGSLGSHNRVCVTNNH → RERVLKKTGH...SVEKRQKKIG

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 583583NEDD4-binding protein 2-like 2
PRO_0000299026

Regions

Coiled coil162 – 19736 Potential
Compositional bias558 – 5614Poly-Pro

Amino acid modifications

Modified residue1991Phosphoserine Ref.9

Natural variations

Alternative sequence8 – 3225GKFLG…STTES → EFCLVRIVMALCSALMTIFT IKMGT in isoform 3.
VSP_041337
Alternative sequence33 – 461429Missing in isoform 3.
VSP_041338
Alternative sequence566 – 58318RWGGS…VTNNH → RERVLKKTGHRLSKTKQKRN RKRNKKQNSQNRIMEENSLE FLSDLTPGDQDPSQSEEEDI EKTRRESEYPFIDGLQNEVG DFVTGYKEKRWKNKDPKDSF QNVMSIVELDNTPKNYLSKE GDNLFVSLLLRPNEISVTCP ILTQNLSCVTTDDCSGMKVE KHIRNRHTIALDTQDLSAET SCLFMKKREIVDKNLSHEPI LCHQHGIRMSDKVLREEQVY TTKINHWAFFTTNLSDEDLQ LGSDRQPYFGSWPAGPHKFI CEQRPKKDRACKLAGPDSRG QWIQMIFTSVAASEPGNNPE ILTDKLLIGNEDFSPPPETM DSFIETNLFRSCLPQPDIPK NALESTKNKKRRKKRIFNLV PNFDLLGQSRIGVKEREKCD LLTKNHGLKITLGEEKDRIS ERNSEEENKQKLMTFDHHPL WFYLDIIKATPLNIDGQRYS HCLSFNRLRCSASLYKNYIP SFVLHNLSSIWKPSFTNKKL FLTFESQTRVGNKLNDAGFI SPEILHSHPDTSCSLGVTSD FHFLNERFDRKLKRWEEPKE LPAEDSQDLTSTDYRSLELP LSQGFAFQLVKLFGSPGVPM ESLLPDDYVVPLDWKTLKMI YLQWKMSVEKRQKKIG in isoform 3.
VSP_041339
Alternative sequence567 – 58317WGGSL…VTNNH → FDRKLKRWEEPKELPAEDSQ DLTSTDYRSLELPLSQGFAF QLVKLFGSPGVPMESLLPDD YVVPLDWKTLKMIYLQWKMS VEKRQKKIG in isoform 2.
VSP_027518
Natural variant2721Y → H.
Corresponds to variant rs34062461 [ dbSNP | Ensembl ].
VAR_034765

Sequences

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

Last modified February 1, 1997. Version 1.
Checksum: 318DC4D81CD0FF2A

FASTA58367,459
        10         20         30         40         50         60 
MSYGEIEGKF LGPREEVTSE PRCKKLKSTT ESYVFHNHSN ADFHRIQEKT GNDWVPVTII 

        70         80         90        100        110        120 
DVRGHSYLQE NKIKTTDLHR PLHDEMPGNR PDVIESIDSQ VLQEARPPLV SADDEIYSTS 

       130        140        150        160        170        180 
KAFIGPIYKP PEKKKRNEGR NEAHVLNGIN DRGGQKEKQK FNSEKSEIDN ELFQFYKEIE 

       190        200        210        220        230        240 
ELEKEKDGFE NSCKESEPSQ EQFVPFYEGH NNGLLKPDEE KKDLSNKAMP SHCDYQQNLG 

       250        260        270        280        290        300 
NEPDKYPCNG QVIPTFCDTS FTSFRPEWQS VYPFIVPYGP PLPSLNYHLN IQRFSGPPNP 

       310        320        330        340        350        360 
PSNIFQAQDD SQIQNGYYVN NCHVNWNCMT FDQNNEYTDC SENRSSVHPS GNGCSMQDRY 

       370        380        390        400        410        420 
VSNGFCEVRE RCWKDHCMDK HNGTDRFVNQ QFQEEKLNKL QKLLILLRGL PGSGKTTLSR 

       430        440        450        460        470        480 
ILLGQNRDGI VFSTDDYFHH QDGYRYNVNQ LGDAHDWNQN RAKQAIDQGR SPVIIDNTNI 

       490        500        510        520        530        540 
QAWEMKPYVE VAIGKGYRVE FHEPETWWKF DPEELEKRNK HGVSRKKIAQ MLDRYEYQMS 

       550        560        570        580 
ISIVMNSVEP SHKSTQRPPP PQGRQRWGGS LGSHNRVCVT NNH 

« Hide

Isoform 2 [UniParc].

Checksum: 6CD19BF77B1925BC
Show »

FASTA65576,082
Isoform 3 [UniParc].

Checksum: AA8CC83570FF4F1A
Show »

FASTA75287,169

References

« Hide 'large scale' references
[1]"Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13."
Couch F.J., Rommens J.M., Neuhausen S.L., Belanger C., Dumont M., Kenneth A., Bell R., Berry S., Bogden R., Cannon-Albright L., Farid L., Frye C., Hattier T., Janecki T., Jiang P., Kehrer R., Leblanc J.F., McArthur-Morrison J. expand/collapse author list , McSweeney D., Miki Y., Peng Y., Samson C., Schroeder M., Snyder S.C., Stringfellow M., Stroup C., Swedlund B., Swensen J., Teng D., Thakur S., Tran T., Tranchant M., Welver-Feldhaus J., Wong A.K.C., Shizuya H., Labrie F., Skolnick M.H., Goldgar D.E., Kamb A., Weber B.L., Tavtigian S.V., Simard J.
Genomics 36:86-99(1996) [PubMed: 8812419] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Screening and cloning of a new immuno-associated gene regulated by phosphonoformate."
Liu Y., Cheng J., Lu Y.
Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]Rhodes S.
Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]"The DNA sequence and analysis of human chromosome 13."
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed: 15057823] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]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 (DEC-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 434-583 (ISOFORM 2).
Tissue: Colon.
[8]"Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes."
Kimura K., Wakamatsu A., Suzuki Y., Ota T., Nishikawa T., Yamashita R., Yamamoto J., Sekine M., Tsuritani K., Wakaguri H., Ishii S., Sugiyama T., Saito K., Isono Y., Irie R., Kushida N., Yoneyama T., Otsuka R. expand/collapse author list , Kanda K., Yokoi T., Kondo H., Wagatsuma M., Murakawa K., Ishida S., Ishibashi T., Takahashi-Fujii A., Tanase T., Nagai K., Kikuchi H., Nakai K., Isogai T., Sugano S.
Genome Res. 16:55-65(2006) [PubMed: 16344560] [Abstract]
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[9]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-199, MASS SPECTROMETRY.
Tissue: Embryonic kidney.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U50532 mRNA. Translation: AAC50875.1.
AF530063 mRNA. Translation: AAQ09947.1.
AL049783 mRNA. Translation: CAB42441.1.
BT007172 mRNA. Translation: AAP35836.1.
AL353665 Genomic DNA. Translation: CAI11042.1.
CH471075 Genomic DNA. Translation: EAX08514.1.
BC010643 mRNA. Translation: AAH10643.1.
BC131631 mRNA. Translation: AAI31632.1. Sequence problems.
BP361938 mRNA. No translation available.
IPIIPI00007093.
IPI00011822.
IPI00856073.
RefSeqNP_055702.1. NM_014887.2.
UniGeneHs.507680.

3D structure databases

ProteinModelPortalQ92802.
SMRQ92802. Positions 402-541.
ModBaseSearch...

Protein-protein interaction databases

IntActQ92802. 17 interactions.
STRINGQ92802.

PTM databases

PhosphoSiteQ92802.

Polymorphism databases

DMDM74751659.

Proteomic databases

PRIDEQ92802.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000267068; ENSP00000267068; ENSG00000244754.
GeneID10443.
KEGGhsa:10443.
UCSCuc001uuk.2. human.

Organism-specific databases

CTD10443.
GeneCardsGC13M033007.
HGNCHGNC:26916. N4BP2L2.
HPAHPA039434.
neXtProtNX_Q92802.
PharmGKBPA162396632.
GenAtlasSearch...

Phylogenomic databases

GeneTreeENSGT00510000049402.
HOVERGENHBG059710.

Gene expression databases

ArrayExpressQ92802.
BgeeQ92802.
CleanExHS_N4BP2L2.
GenevestigatorQ92802.

Family and domain databases

ProtoNetSearch...

Other

NextBio39577.

Entry information

Entry nameN42L2_HUMAN
AccessionPrimary (citable) accession number: Q92802
Secondary accession number(s): A3KME8
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: February 1, 1997
Last modified: January 25, 2012
This is version 83 of the entry and version 1 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.

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Human chromosome 13: entries, gene names and cross-references to MIM

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List of human entries with polymorphisms or disease mutations

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Index of human polymorphisms and disease mutations