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Protein

Small EDRK-rich factor 1

Gene

SERF1A

more
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

  1. nervous system development Source: ProtInc
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Small EDRK-rich factor 1
Alternative name(s):
Protein 4F5
Short name:
h4F5
SMA modifier 1
Gene namesi
Name:SERF1A
Synonyms:FAM2A, SERF1, SMAM1
AND
Name:SERF1B
Synonyms:FAM2B, SERF1, SMAM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componentsi: Chromosome 5, Unplaced

Organism-specific databases

HGNCiHGNC:10755. SERF1A.
HGNC:10756. SERF1B.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA35675.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 110110Small EDRK-rich factor 1PRO_0000050710Add
BLAST

Proteomic databases

MaxQBiO75920.
PRIDEiO75920.

PTM databases

PhosphoSiteiO75920.

Expressioni

Tissue specificityi

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.

Gene expression databases

BgeeiO75920.
CleanExiHS_SERF1A.
HS_SERF1B.
ExpressionAtlasiO75920. baseline.
GenevestigatoriO75920.

Interactioni

Protein-protein interaction databases

BioGridi113898. 3 interactions.
608917. 1 interaction.
IntActiO75920. 3 interactions.
STRINGi9606.ENSP00000346892.

Structurei

3D structure databases

ProteinModelPortaliO75920.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SERF family.Curated

Phylogenomic databases

eggNOGiKOG4488.
GeneTreeiENSGT00600000084564.
HOGENOMiHOG000231842.
InParanoidiO75920.
OMAiNERKSMQ.
OrthoDBiEOG7W6WQB.
PhylomeDBiO75920.

Family and domain databases

InterProiIPR007513. Uncharacterised_SERF.
[Graphical view]
PfamiPF04419. 4F5. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Long (identifier: O75920-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MARGNQRELA RQKNMKKTQE ISKGKRKEDS LTASQRKQSS GGQKSESKMS
60 70 80 90 100
AGPHLPLKAP RENPCFPLPA AGGSRYYLAY GSITPISAFV FVVFFSVFFP
110
SFYEDFCCWI
Length:110
Mass (Da):12,349
Last modified:October 31, 1998 - v1
Checksum:iED9143455DB925AB
GO
Isoform Short (identifier: O75920-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     39-110: SSGGQKSESK...SFYEDFCCWI → RDSEIMQEKQKAANEKKSMQTREK

Show »
Length:62
Mass (Da):7,336
Checksum:iA8920C1B0C575F10
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei39 – 11072SSGGQ…FCCWI → RDSEIMQEKQKAANEKKSMQ TREK in isoform Short. 2 PublicationsVSP_006057Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS43326.1. [O75920-1]
CCDS47228.1. [O75920-1]
CCDS47229.1. [O75920-2]
CCDS54866.1. [O75920-2]
RefSeqiNP_001171558.1. NM_001178087.1. [O75920-2]
NP_068802.1. NM_021967.2. [O75920-1]
NP_075257.1. NM_022968.1. [O75920-2]
NP_075267.1. NM_022978.2. [O75920-1]
UniGeneiHs.559428.
Hs.726820.

Genome annotation databases

EnsembliENST00000317633; ENSP00000321791; ENSG00000172058. [O75920-2]
ENST00000354833; ENSP00000346892; ENSG00000172058. [O75920-1]
ENST00000380750; ENSP00000370126; ENSG00000205572. [O75920-1]
ENST00000380751; ENSP00000370127; ENSG00000205572. [O75920-2]
ENST00000611616; ENSP00000482392; ENSG00000278839. [O75920-2]
ENST00000613172; ENSP00000484795; ENSG00000277429. [O75920-1]
ENST00000614310; ENSP00000482995; ENSG00000275581. [O75920-2]
ENST00000614527; ENSP00000479724; ENSG00000275581. [O75920-1]
ENST00000621283; ENSP00000481118; ENSG00000277429. [O75920-2]
ENST00000622553; ENSP00000480543; ENSG00000278839. [O75920-1]
GeneIDi728492.
8293.
KEGGihsa:728492.
hsa:8293.
UCSCiuc003jxz.3. human. [O75920-2]
uc003jyb.3. human. [O75920-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS43326.1. [O75920-1]
CCDS47228.1. [O75920-1]
CCDS47229.1. [O75920-2]
CCDS54866.1. [O75920-2]
RefSeqiNP_001171558.1. NM_001178087.1. [O75920-2]
NP_068802.1. NM_021967.2. [O75920-1]
NP_075257.1. NM_022968.1. [O75920-2]
NP_075267.1. NM_022978.2. [O75920-1]
UniGeneiHs.559428.
Hs.726820.

3D structure databases

ProteinModelPortaliO75920.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113898. 3 interactions.
608917. 1 interaction.
IntActiO75920. 3 interactions.
STRINGi9606.ENSP00000346892.

PTM databases

PhosphoSiteiO75920.

Proteomic databases

MaxQBiO75920.
PRIDEiO75920.

Protocols and materials databases

DNASUi8293.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317633; ENSP00000321791; ENSG00000172058. [O75920-2]
ENST00000354833; ENSP00000346892; ENSG00000172058. [O75920-1]
ENST00000380750; ENSP00000370126; ENSG00000205572. [O75920-1]
ENST00000380751; ENSP00000370127; ENSG00000205572. [O75920-2]
ENST00000611616; ENSP00000482392; ENSG00000278839. [O75920-2]
ENST00000613172; ENSP00000484795; ENSG00000277429. [O75920-1]
ENST00000614310; ENSP00000482995; ENSG00000275581. [O75920-2]
ENST00000614527; ENSP00000479724; ENSG00000275581. [O75920-1]
ENST00000621283; ENSP00000481118; ENSG00000277429. [O75920-2]
ENST00000622553; ENSP00000480543; ENSG00000278839. [O75920-1]
GeneIDi728492.
8293.
KEGGihsa:728492.
hsa:8293.
UCSCiuc003jxz.3. human. [O75920-2]
uc003jyb.3. human. [O75920-1]

Organism-specific databases

CTDi728492.
8293.
GeneCardsiGC05P069322.
GC05P070198.
HGNCiHGNC:10755. SERF1A.
HGNC:10756. SERF1B.
MIMi603011. gene.
neXtProtiNX_O75920.
PharmGKBiPA35675.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4488.
GeneTreeiENSGT00600000084564.
HOGENOMiHOG000231842.
InParanoidiO75920.
OMAiNERKSMQ.
OrthoDBiEOG7W6WQB.
PhylomeDBiO75920.

Miscellaneous databases

NextBioi127355.
PROiO75920.
SOURCEiSearch...

Gene expression databases

BgeeiO75920.
CleanExiHS_SERF1A.
HS_SERF1B.
ExpressionAtlasiO75920. baseline.
GenevestigatoriO75920.

Family and domain databases

InterProiIPR007513. Uncharacterised_SERF.
[Graphical view]
PfamiPF04419. 4F5. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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(1997) [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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS SHORT AND LONG).
    Tissue: Brain and Lung.

Entry informationi

Entry nameiSERF1_HUMAN
AccessioniPrimary (citable) accession number: O75920
Secondary accession number(s): B7ZKM2, O75919, Q52LK5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 18, 2002
Last sequence update: October 31, 1998
Last modified: January 6, 2015
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.