Q53TS8 (AL2SA_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 66.
History...
Names·Attributes·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference 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 | 623 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| None. [Check GOA] | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q53TS8-1) 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: Q53TS8-2) The sequence of this isoform differs from the canonical sequence as follows: 388-395: DIPLVNEE → GGFFTKRI 396-623: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q53TS8-3) The sequence of this isoform differs from the canonical sequence as follows: 504-550: AFSPKEYNSP...SFTHLKKVKS → NLRSICINPK...LVSTRLKIKR 551-623: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q53TS8-4) The sequence of this isoform differs from the canonical sequence as follows: 527-527: Q → QFQKFNKNGF...LHWTARRTIH | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 623 | 623 | Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein | PRO_0000076174 | |||||
Natural variations | |||||||||
| Alternative sequence | 388 – 395 | 8 | DIPLVNEE → GGFFTKRI in isoform 2. | VSP_016788 | |||||
| Alternative sequence | 396 – 623 | 228 | Missing in isoform 2. | VSP_016789 | |||||
| Alternative sequence | 504 – 550 | 47 | AFSPK…KKVKS → NLRSICINPKSRNLDSSPTE ISWQNNNLNLAERENTGLVS TRLKIKR in isoform 3. | VSP_045400 | |||||
| Alternative sequence | 527 | 1 | Q → QFQKFNKNGFDPFLRNINKM SVRKRKDQDIYKYRNILGAE VIEHEDQDPPYPAQSKTAGP ANTTWAHDPNIFTTKMLETE NKLAPDPTINTIKGLDTKNS LKENLPNVSLPSIKGESSRA GNVQANTCHLSKSLNFTPHI EYLKQSMILKSILSENLQDL SDKLFSKPEVSMNSEAREKS SSPLLSIHDKSSSSMEDNVL EKKQDLNNWLSEKDILNSKT TLSQIIKNIPADSFSEGSQI IENIPADSLLEGGQVIKNIP EYSLSEGGQIIKNIPADSFL ESGPGQSPEVEEHVSKKHFE ADERDFPIKKNSSTKKKHLI SEVPNSKSGSSGTVHDYIMR QIFTAPIFSELEIEVKEPSE TPMNLENQLPTPWKRSLSSH ILFHEENADEIELPQPRSAT SQIIQAFPIDTLLESGIIKV IELDKEHHKSSLLGTGITSP KGNLKDSQEYYSEIRSETEP LSEQSIPIIPKDTTSVSRAE FIQEDQNMFPQDSSYYSIAN KELYLPRNGQRLCKDKNDLS STLESLTNSLMDKLSESDEI MLKSFLKNIFNVFFKYNHSE RRGQPEKELERLIQPSFTSD TEHLEELQEDFDKADKLDRK PILSPKLRVFLEELSESEVK HLKSELSKQIQHYLVERLSE SGHITKEDLPKIYQNLYLMN EKAEQKGPNSFQGKYSETVK EIMSFVNNFNHHFIDKHLEI KLRSFLKEILQNYFLKNISE SSLFNETASETIYPNISSLR TKSVSISFHELEQDISKGSF GRRFEINMKYPLSKSLQNYL IALSENELLHLKADLSKHLQ SLFIEKLSKSGLMTKKQLEG INQHINLLNSSSIPLKYIKT HLPFRDDCHFVEKHSEKQNK YSRIVQQTTLQTVSEDKLRE AELIREKEKKYFPLQNLKGN SSLIKEQKSYYTKEEAKTPS LIKVQPSSNENIQASPLSKS SEILTDILLKKLRKEHVFTQ LPQAENSVHKTEIQDPYSWG GKSKITQSKAWCEKTLKMKS LDRKEHVNIYKWTVQEKPEA VLTSYPRIPNARMPREDEYL NRITFPSWQSSTLTHFNTET GEKSKLEDQYCQTLKGNNNN NKKHLVTFAQYKKEIQTLYI KPDEICSEKCAKFPEIQSFQ YKVVEDEKNLKPHLFPELFK IEDLKPKVRKERDRVAQPKK SFNKIVRILPTTLPTTRIHL KKSVPRTLLHWTARRTIH in isoform 4. | VSP_045401 | |||||
| Alternative sequence | 551 – 623 | 73 | Missing in isoform 3. | VSP_045402 | |||||
| Natural variant | 123 | 1 | K → M in a colorectal cancer sample; somatic mutation. Ref.5 | VAR_035787 | |||||
| Natural variant | 376 | 1 | H → Q. Ref.1 Ref.2 Ref.4 Corresponds to variant rs10804117 [ dbSNP | Ensembl ]. | VAR_024769 | |||||
Experimental info | |||||||||
| Isoform 4: | |||||||||
| Sequence conflict | 698 | 1 | M → T in BX648732. Ref.2 | ||||||
| Sequence conflict | 1039 | 1 | C → G in BX648732. Ref.2 | ||||||
| Sequence conflict | 1559 | 1 | M → I in BX648732. Ref.2 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK058080 mRNA. Translation: BAB71654.1. AL833429 mRNA. No translation available. BX648732 mRNA. No translation available. AC007282 Genomic DNA. Translation: AAY14693.1. BC030659 mRNA. Translation: AAH30659.1. |
| IPI | IPI00044667. IPI00301617. IPI00384662. IPI00927232. |
| RefSeq | NP_001161688.1. NM_001168216.1. NP_001161689.1. NM_001168217.1. NP_001161693.1. NM_001168221.1. NP_689738.3. NM_152525.5. |
| UniGene | Hs.335788. |
3D structure databases | |
| ProteinModelPortal | Q53TS8. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q53TS8. 5 interactions. |
PTM databases | |
| PhosphoSite | Q53TS8. |
Polymorphism databases | |
| DMDM | 74726955. |
Proteomic databases | |
| PaxDb | Q53TS8. |
| PRIDE | Q53TS8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000286195; ENSP00000286195; ENSG00000155754. ENST00000439140; ENSP00000409937; ENSG00000155754. ENST00000439802; ENSP00000400672; ENSG00000155754. ENST00000450242; ENSP00000399016; ENSG00000155754. |
| GeneID | 151254. |
| KEGG | hsa:151254. |
| UCSC | uc002uye.3. human. uc010fti.3. human. |
Organism-specific databases | |
| CTD | 151254. |
| GeneCards | GC02M202352. |
| H-InvDB | HIX0002740. |
| HGNC | HGNC:14438. ALS2CR11. |
| HPA | HPA045406. |
| neXtProt | NX_Q53TS8. |
| PharmGKB | PA24734. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG28642. |
| HOGENOM | HOG000033889. |
| HOVERGEN | HBG054167. |
| InParanoid | Q53TS8. |
| OrthoDB | EOG4KSPJ9. |
| PhylomeDB | Q53TS8. |
Gene expression databases | |
| ArrayExpress | Q53TS8. |
| Bgee | Q53TS8. |
| CleanEx | HS_ALS2CR11. |
| Genevestigator | Q53TS8. |
| GermOnline | ENSG00000155754. Homo sapiens. |
Family and domain databases | |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 151254. |
| NextBio | 86649. |
Entry information
| Entry name | AL2SA_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q53TS8 Secondary accession number(s): C9IZH7 Q96LN4 | ||||||||
| 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 2 Human chromosome 2: 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 |

Clusters with
