Q92802 (N42L2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 83.
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: NEDD4-binding protein 2-like 2 Alternative name(s): Phosphonoformate immuno-associated protein 5 | ||||
| Gene names |
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| 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 | 583 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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 diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| PTM | Phosphoprotein |
| Technical term | Complete 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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 583 | 583 | NEDD4-binding protein 2-like 2 | PRO_0000299026 | |||||
Regions | |||||||||
| Coiled coil | 162 – 197 | 36 | Potential | ||||||
| Compositional bias | 558 – 561 | 4 | Poly-Pro | ||||||
Amino acid modifications | |||||||||
| Modified residue | 199 | 1 | Phosphoserine Ref.9 | ||||||
Natural variations | |||||||||
| Alternative sequence | 8 – 32 | 25 | GKFLG…STTES → EFCLVRIVMALCSALMTIFT IKMGT in isoform 3. | VSP_041337 | |||||
| Alternative sequence | 33 – 461 | 429 | Missing in isoform 3. | VSP_041338 | |||||
| Alternative sequence | 566 – 583 | 18 | RWGGS…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 sequence | 567 – 583 | 17 | WGGSL…VTNNH → FDRKLKRWEEPKELPAEDSQ DLTSTDYRSLELPLSQGFAF QLVKLFGSPGVPMESLLPDD YVVPLDWKTLKMIYLQWKMS VEKRQKKIG in isoform 2. | VSP_027518 | |||||
| Natural variant | 272 | 1 | Y → H. Corresponds to variant rs34062461 [ dbSNP | Ensembl ]. | VAR_034765 | |||||
Sequences
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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. 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. 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. 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. 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. |
| IPI | IPI00007093. IPI00011822. IPI00856073. |
| RefSeq | NP_055702.1. NM_014887.2. |
| UniGene | Hs.507680. |
3D structure databases | |
| ProteinModelPortal | Q92802. |
| SMR | Q92802. Positions 402-541. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q92802. 17 interactions. |
| STRING | Q92802. |
PTM databases | |
| PhosphoSite | Q92802. |
Polymorphism databases | |
| DMDM | 74751659. |
Proteomic databases | |
| PRIDE | Q92802. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000267068; ENSP00000267068; ENSG00000244754. |
| GeneID | 10443. |
| KEGG | hsa:10443. |
| UCSC | uc001uuk.2. human. |
Organism-specific databases | |
| CTD | 10443. |
| GeneCards | GC13M033007. |
| HGNC | HGNC:26916. N4BP2L2. |
| HPA | HPA039434. |
| neXtProt | NX_Q92802. |
| PharmGKB | PA162396632. |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00510000049402. |
| HOVERGEN | HBG059710. |
Gene expression databases | |
| ArrayExpress | Q92802. |
| Bgee | Q92802. |
| CleanEx | HS_N4BP2L2. |
| Genevestigator | Q92802. |
Family and domain databases | |
| ProtoNet | Search... |
Other | |
| NextBio | 39577. |
Entry information
| Entry name | N42L2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q92802 Secondary accession number(s): A3KME8 | ||||||||
| 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 13 Human chromosome 13: 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 |

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