O75920 (SERF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified July 9, 2014. Version 105. History...
Names and origin
|Protein names||Recommended name:|
Small EDRK-rich factor 1
SMA modifier 1
|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|
|Sequence length||110 AA.|
|Protein existence||Evidence at transcript level|
General annotation (Comments)
|This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]|
|Isoform Long (identifier: O75920-1) |
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 Short (identifier: O75920-2) |
The sequence of this isoform differs from the canonical sequence as follows:
39-110: SSGGQKSESK...SFYEDFCCWI → RDSEIMQEKQKAANEKKSMQTREK
Sequence annotation (Features)
|||"Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics."|
Scharf J.M., Endrizzi M.G., Wetter A., Huang S., Thompson T.G., Zerres K., Dietrich W.F., Wirth B., Kunkel L.M.
Nat. Genet. 20:83-86(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT).
|||"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS SHORT AND LONG).
Tissue: Brain and Lung.
|+||Additional computationally mapped references.|
|Accession||Primary (citable) accession number: O75920|
Secondary accession number(s): B7ZKM2, O75919, Q52LK5
|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.|