O75920 (SERF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Small EDRK-rich factor 1

Alternative name(s):
Protein 4F5
Short name=h4F5
SMA modifier 1

Gene names

Name:	SERF1A
Synonyms:	FAM2A, SERF1, SMAM1
AND
Name:	SERF1B
Synonyms:	FAM2B, SERF1, SMAM1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	110 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Tissue specificity	Isoform Long is predominantly expressed in heart, brain and skeletal muscle. Isoform Short and Isoform Long are expressed throughout the central nervous system, including spinal cord.
Sequence similarities	Belongs to the SERF family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	nervous system development Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Alternative products

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)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 110	110	Small EDRK-rich factor 1		PRO_0000050710
Natural variations
	Alternative sequence	39 – 110	72	SSGGQ…FCCWI → RDSEIMQEKQKAANEKKSMQ TREK in isoform Short.		VSP_006057

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified November 1, 1998. Version 1. Checksum: ED9143455DB925AB	FASTA	110	12,349
	10 20 30 40 50 60 MARGNQRELA RQKNMKKTQE ISKGKRKEDS LTASQRKQSS GGQKSESKMS AGPHLPLKAP 70 80 90 100 110 RENPCFPLPA AGGSRYYLAY GSITPISAFV FVVFFSVFFP SFYEDFCCWI
	Isoform Short [UniParc]. Checksum: A8920C1B0C575F10	FASTA	62	7,336
	10 20 30 40 50 60 MARGNQRELA RQKNMKKTQE ISKGKRKEDS LTASQRKQRD SEIMQEKQKA ANEKKSMQTR EK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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).
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS SHORT AND LONG). Tissue: Brain and Lung.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF073518 mRNA. Translation: AAC63517.1. AF073519 mRNA. Translation: AAC63518.1. BC021174 mRNA. Translation: AAH21174.1. BC035932 mRNA. Translation: AAH35932.1. BC093880 mRNA. Translation: AAH93880.1. BC093882 mRNA. Translation: AAH93882.1. BC101970 mRNA. Translation: AAI01971.1. BC104738 mRNA. Translation: AAI04739.1. BC103687 mRNA. Translation: AAI03688.1. BC143255 mRNA. Translation: AAI43256.1. BC143260 mRNA. Translation: AAI43261.1. BC171749 mRNA. Translation: AAI71749.1.
IPI	IPI00010689. IPI00179265.
RefSeq	NP_001171558.1. NM_001178087.1. NP_068802.1. NM_021967.2. NP_075257.1. NM_022968.1. NP_075267.1. NM_022978.2.
UniGene	Hs.559428. Hs.726820.
3D structure databases
ProteinModelPortal	O75920.
ModBase	Search...
Protein-protein interaction databases
IntAct	O75920. 1 interaction.
STRING	9606.ENSP00000346892.
PTM databases
PhosphoSite	O75920.
Proteomic databases
PRIDE	O75920.
Protocols and materials databases
DNASU	8293.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000317633; ENSP00000321791; ENSG00000172058. ENST00000354833; ENSP00000346892; ENSG00000172058. ENST00000380750; ENSP00000370126; ENSG00000205572. ENST00000380751; ENSP00000370127; ENSG00000205572. ENST00000572521; ENSP00000458786; ENSG00000262305. ENST00000576191; ENSP00000461578; ENSG00000262305.
GeneID	728492. 8293.
KEGG	hsa:728492. hsa:8293.
UCSC	uc003jxz.3. human. uc003jyb.3. human.
Organism-specific databases
CTD	728492. 8293.
GeneCards	GC05P069322. GC05P070235.
HGNC	HGNC:10755. SERF1A. HGNC:10756. SERF1B.
MIM	603011. gene.
neXtProt	NX_O75920.
PharmGKB	PA35675.
GenAtlas	Search...
Phylogenomic databases
eggNOG	KOG4488.
HOGENOM	HOG000231842.
InParanoid	O75920.
OMA	IARQKNM.
Gene expression databases
ArrayExpress	O75920.
Bgee	O75920.
CleanEx	HS_SERF1A. HS_SERF1B.
Genevestigator	O75920.
GermOnline	ENSG00000172058. Homo sapiens. ENSG00000205572. Homo sapiens.
Family and domain databases
InterPro	IPR007513. Uncharacterised_SERF. [Graphical view]
Pfam	PF04419. 4F5. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	127355.
SOURCE	Search...

Entry information

Entry name

SERF1_HUMAN

Accession

Primary (citable) accession number: O75920
Secondary accession number(s): B7ZKM2, O75919, Q52LK5

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2002
Last sequence update:	November 1, 1998
Last modified:	May 1, 2013
This is version 95 of the entry and version 1 of the sequence. [Complete history]

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.