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O75920

- SERF1_HUMAN

UniProt

O75920 - SERF1_HUMAN

Protein

Small EDRK-rich factor 1

Gene

SERF1A

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

    GO - Biological processi

    1. nervous system development Source: ProtInc

    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: Chromosome 5

    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.
    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.
    HOGENOMiHOG000231842.
    InParanoidiO75920.
    OMAiKTHSSIF.
    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. Align

    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

    MARGNQRELA RQKNMKKTQE ISKGKRKEDS LTASQRKQSS GGQKSESKMS    50
    AGPHLPLKAP RENPCFPLPA AGGSRYYLAY GSITPISAFV FVVFFSVFFP 100
    SFYEDFCCWI 110
    Length:110
    Mass (Da):12,349
    Last modified:November 1, 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:
    EMBL
    GenBank
    DDBJ
    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]
    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS43326.1. [O75920-1 ]
    CCDS47228.1. [O75920-1 ]
    CCDS47229.1. [O75920-2 ]
    CCDS54866.1. [O75920-2 ]
    RefSeqi NP_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 ]
    UniGenei Hs.559428.
    Hs.726820.

    3D structure databases

    ProteinModelPortali O75920.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113898. 3 interactions.
    608917. 1 interaction.
    IntActi O75920. 3 interactions.
    STRINGi 9606.ENSP00000346892.

    PTM databases

    PhosphoSitei O75920.

    Proteomic databases

    MaxQBi O75920.
    PRIDEi O75920.

    Protocols and materials databases

    DNASUi 8293.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000317633 ; ENSP00000321791 ; ENSG00000172058 . [O75920-2 ]
    ENST00000354833 ; ENSP00000346892 ; ENSG00000172058 . [O75920-1 ]
    ENST00000380750 ; ENSP00000370126 ; ENSG00000205572 . [O75920-1 ]
    ENST00000380751 ; ENSP00000370127 ; ENSG00000205572 . [O75920-2 ]
    GeneIDi 728492.
    8293.
    KEGGi hsa:728492.
    hsa:8293.
    UCSCi uc003jxz.3. human. [O75920-2 ]
    uc003jyb.3. human. [O75920-1 ]

    Organism-specific databases

    CTDi 728492.
    8293.
    GeneCardsi GC05P069322.
    GC05P070235.
    HGNCi HGNC:10755. SERF1A.
    HGNC:10756. SERF1B.
    MIMi 603011. gene.
    neXtProti NX_O75920.
    PharmGKBi PA35675.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi KOG4488.
    HOGENOMi HOG000231842.
    InParanoidi O75920.
    OMAi KTHSSIF.
    OrthoDBi EOG7W6WQB.
    PhylomeDBi O75920.

    Miscellaneous databases

    NextBioi 127355.
    PROi O75920.
    SOURCEi Search...

    Gene expression databases

    Bgeei O75920.
    CleanExi HS_SERF1A.
    HS_SERF1B.
    Genevestigatori O75920.

    Family and domain databases

    InterProi IPR007513. Uncharacterised_SERF.
    [Graphical view ]
    Pfami PF04419. 4F5. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.

    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 19, 2002
    Last sequence update: November 1, 1998
    Last modified: October 1, 2014
    This is version 106 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