Reviewed,
UniProtKB/Swiss-Prot Q86XL3 (ANKL2_HUMAN)
Last modified
November 24, 2009.
Version 56.
History...
Clusters with 100%,
90%,
50% identity |
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: Ankyrin repeat and LEM domain-containing protein 2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete 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 | 938 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subcellular location | Membrane; Single-pass membrane protein Potential. |
| Sequence similarities | Contains 1 ANK repeat. Contains 1 LEM domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | ANK repeat Transmembrane |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell nuclear envelopeInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q86XL3-1) 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: Q86XL3-2) The sequence of this isoform differs from the canonical sequence as follows: 631-648: GSNSISVRAFLDEDDMSL → VEMRFHRIDQAGLELLTS 649-938: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 938 | 938 | Ankyrin repeat and LEM domain-containing protein 2 | PRO_0000280242 | |||||
Regions | |||||||||
| Transmembrane | 13 – 32 | 20 | Potential | ||||||
| Domain | 69 – 113 | 45 | LEM | ||||||
| Repeat | 411 – 440 | 30 | ANK | ||||||
Amino acid modifications | |||||||||
| Modified residue | 259 | 1 | Phosphoserine Ref.5 Ref.7 | ||||||
| Modified residue | 268 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 487 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 488 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 496 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 512 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 528 | 1 | Phosphoserine Ref.5 Ref.7 | ||||||
| Modified residue | 662 | 1 | Phosphoserine Ref.7 Ref.4 | ||||||
| Modified residue | 896 | 1 | Phosphoserine Ref.7 Ref.6 | ||||||
| Modified residue | 914 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 919 | 1 | Phosphoserine Ref.7 | ||||||
Natural variations | |||||||||
| Alternative sequence | 631 – 648 | 18 | GSNSI…DDMSL → VEMRFHRIDQAGLELLTS in isoform 2. | VSP_023574 | |||||
| Alternative sequence | 649 – 938 | 290 | Missing in isoform 2. | VSP_023575 | |||||
| Natural variant | 122 | 1 | H → Y: dbSNP rs1132375. | VAR_031097 | |||||
| Natural variant | 148 | 1 | Q → E: dbSNP rs7968520. | VAR_031098 | |||||
| Natural variant | 720 | 1 | R → H: dbSNP rs10781634. | VAR_031099 | |||||
Experimental info | |||||||||
| Sequence conflict | 266 | 1 | P → Q in AAH43157. Ref.2 | ||||||
| Sequence conflict | 481 | 1 | L → V in AAH43157. Ref.2 | ||||||
| Sequence conflict | 647 | 1 | S → N in AAH43157. Ref.2 | ||||||
Sequences
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References
| [1] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [PubMed: 16541075] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [2] | "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 208-938 (ISOFORM 2), VARIANTS TYR-122 AND HIS-720. Tissue: Brain and Skin. |
| [3] | "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:169-176(1998) [PubMed: 9734811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 156-938 (ISOFORM 1), VARIANT HIS-720. Tissue: Brain. |
| [4] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-662, MASS SPECTROMETRY. Tissue: Epithelium. |
| [5] | "A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-259 AND SER-528, MASS SPECTROMETRY. Tissue: Epithelium. |
| [6] | "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-896, MASS SPECTROMETRY. |
| [7] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-259; SER-268; SER-487; SER-488; SER-496; SER-512; SER-528; SER-662; SER-896; SER-914 AND SER-919, MASS SPECTROMETRY. |
| [8] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| AC135586 Genomic DNA. No translation available. AC136467 Genomic DNA. No translation available. BC001530 mRNA. Translation: AAH01530.2. BC025347 mRNA. Translation: AAH25347.1. BC043157 mRNA. Translation: AAH43157.2. BC062373 mRNA. Translation: AAH62373.1. BC082962 mRNA. Translation: AAH82962.1. AB014592 mRNA. Translation: BAA31667.1. | |
| IPI | IPI00329245. IPI00829741. |
| PIR | T00354. |
| RefSeq | NP_055929.1. |
| UniGene | Hs.654628 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q86XL3. 4 interactions. |
PTM databases | |
| PhosphoSite | Q86XL3. |
Genome annotation databases | |
| Ensembl | ENST00000357997; ENSP00000350686; ENSG00000176915; Homo sapiens. [Genome view] |
| GeneID | 23141. |
| KEGG | hsa:23141. |
| UCSC | uc001ukx.2. human. uc001uky.2. human. |
Organism-specific databases | |
| CTD | 23141. |
| GeneCards | GC12M131812. |
| HGNC | HGNC:29101. ANKLE2. |
| HPA | HPA003602. |
| PharmGKB | PA128394604. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q86XL3. |
Gene expression databases | |
| ArrayExpress | Q86XL3. |
| Bgee | Q86XL3. |
| CleanEx | HS_ANKLE2. |
| Genevestigator | Q86XL3. |
Family and domain databases | |
| InterPro | IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR003887. LEM. IPR011015. LEM-like_fold. [Graphical view] |
| Gene3D | G3DSA:1.25.40.20. ANK. 1 hit. G3DSA:1.10.720.40. LEM. 1 hit. |
| Pfam | PF03020. LEM. 1 hit. [Graphical view] |
| SMART | SM00248. ANK. 2 hits. [Graphical view] |
| PROSITE | PS50297. ANK_REP_REGION. False negative. PS50088. ANK_REPEAT. False negative. PS50954. LEM. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 44418. |
Entry information
| Entry name | ANKL2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q86XL3 Secondary accession number(s): O75176 Q96DH4 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 12 Human chromosome 12: 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 |
| SIMILARITY comments Index of protein domains and families |

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