Reviewed,
UniProtKB/Swiss-Prot Q8NAG6 (ANKL1_HUMAN)
Last modified
November 24, 2009.
Version 44.
History...
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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 1 Alternative name(s): Ankyrin repeat domain-containing protein 41 | ||||
| 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 | 575 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | ANK repeat Repeat |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| None. [Check GOA] | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NAG6-1) 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: Q8NAG6-2) The sequence of this isoform differs from the canonical sequence as follows: 360-360: G → GENPHPITPFTRQLYHQQLEEAQIAPG | ||||||
| Note: Contains a LEM domain. No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 575 | 575 | Ankyrin repeat and LEM domain-containing protein 1 | PRO_0000244370 | |||||
Regions | |||||||||
| Repeat | 25 – 57 | 33 | ANK 1 | ||||||
| Repeat | 61 – 90 | 30 | ANK 2 | ||||||
| Repeat | 94 – 123 | 30 | ANK 3 | ||||||
| Compositional bias | 542 – 545 | 4 | Poly-Arg | ||||||
Natural variations | |||||||||
| Alternative sequence | 360 | 1 | G → GENPHPITPFTRQLYHQQLE EAQIAPG in isoform 2. | VSP_019558 | |||||
| Natural variant | 80 | 1 | L → Q: dbSNP rs8108174. | VAR_033507 | |||||
| Natural variant | 170 | 1 | L → W: dbSNP rs2363956. | VAR_033508 | |||||
| Natural variant | 297 | 1 | P → T: dbSNP rs891017. Ref.1 | VAR_033509 | |||||
| Natural variant | 395 | 1 | R → Q: dbSNP rs11086065. Ref.1 | VAR_033510 | |||||
| Natural variant | 407 | 1 | V → M: dbSNP rs34112069. | VAR_033511 | |||||
Experimental info | |||||||||
| Sequence conflict | 404 | 1 | G → E in BAC04840. Ref.1 | ||||||
Sequences
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References
| [1] | "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.  Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 239-575 (ISOFORM 2), VARIANTS THR-297 AND GLN-395. |
Cross-references
Sequence databases | |
|---|---|
| AK092706 mRNA. Translation: BAC03953.1. AK096688 mRNA. Translation: BAC04840.1. Different initiation. | |
| IPI | IPI00329574. IPI00760920. |
| RefSeq | NP_689576.4. |
| UniGene | Hs.379097 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q8NAG6. |
Proteomic databases | |
| PRIDE | Q8NAG6. |
Genome annotation databases | |
| Ensembl | ENST00000291449; ENSP00000291449; ENSG00000160117; Homo sapiens. [Genome view] ENST00000404085; ENSP00000384008; ENSG00000160117; Homo sapiens. [Genome view] |
| GeneID | 126549. |
| KEGG | hsa:126549. |
| UCSC | uc002nfy.2. human. |
Organism-specific databases | |
| CTD | 126549. |
| GeneCards | GC19P017255. |
| HGNC | HGNC:26812. ANKLE1. |
| PharmGKB | PA142672608. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q8NAG6. |
Enzyme and pathway databases | |
| BioCyc | CATTLE:ENSBTAG00000012592-MON. |
Gene expression databases | |
| ArrayExpress | Q8NAG6. |
| Bgee | Q8NAG6. |
| Genevestigator | Q8NAG6. |
| GermOnline | ENSG00000160117. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. [Graphical view] |
| Gene3D | G3DSA:1.25.40.20. ANK. 1 hit. |
| Pfam | PF00023. Ank. 4 hits. [Graphical view] |
| SMART | SM00248. ANK. 3 hits. [Graphical view] |
| PROSITE | PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Entry information
| Entry name | ANKL1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NAG6 Secondary accession number(s): Q8N8J8 | ||||||||
| 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 19 Human chromosome 19: 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 |
