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Q0P6D2

- FA69C_HUMAN

UniProt

Q0P6D2 - FA69C_HUMAN

Protein

Protein FAM69C

Gene

FAM69C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 70 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. transferase activity, transferring phosphorus-containing groups Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein FAM69C
    Gene namesi
    Name:FAM69C
    Synonyms:C18orf51
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:31729. FAM69C.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA165428999.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 419419Protein FAM69CPRO_0000286707Add
    BLAST

    Post-translational modificationi

    Among the many cysteines in the lumenal domain, most are probably involved in disulfide bonds.By similarity

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    PaxDbiQ0P6D2.
    PRIDEiQ0P6D2.

    Expressioni

    Gene expression databases

    BgeeiQ0P6D2.
    CleanExiHS_C18orf51.
    GenevestigatoriQ0P6D2.

    Organism-specific databases

    HPAiHPA048928.

    Structurei

    3D structure databases

    ProteinModelPortaliQ0P6D2.
    SMRiQ0P6D2. Positions 194-301.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2222CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini44 – 419376LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei23 – 4321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi16 – 172May mediate ER retentionBy similarity

    Sequence similaritiesi

    Belongs to the FAM69 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG71854.
    HOGENOMiHOG000111953.
    HOVERGENiHBG094879.
    InParanoidiQ0P6D2.
    OMAiCEDLCVA.
    OrthoDBiEOG779NZ7.
    PhylomeDBiQ0P6D2.
    TreeFamiTF313319.

    Family and domain databases

    InterProiIPR022049. FAM69_kinase_dom.
    IPR029244. FAM69_N.
    IPR011009. Kinase-like_dom.
    [Graphical view]
    PfamiPF12260. PIP49_C. 1 hit.
    PF14875. PIP49_N. 1 hit.
    [Graphical view]
    SUPFAMiSSF56112. SSF56112. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q0P6D2-1) [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

    MARAAGARGP AGWCRRRGRC GRGTLLAFAA WTAGWVLAAA LLLRAHPGVL    50
    SERCTDEKSR RILAALCQDY QGGTLAGDLC EDLCVAGELL FQRCLHYNRG 100
    KKVLQADWRG RPVVLKSKEE AFSSFPPLSL LEEEAGEGGQ DMPEAELLLM 150
    VAGEVKSALG LELSNSSLGP WWPGRRGPRW RGQLASLWAL LQQEEYVYFS 200
    LLQDLSPHVL PVLGSCGHFY AVEFLAAGSP HHRALFPLDR APGAPGGGQA 250
    KAISDIALSF LDMVNHFDSD FSHRLHLCDI KPENFAIRSD FTVVAIDVDM 300
    AFFEPKMREI LEQNCTGDED CNFFDCFSRC DLRVNKCGAQ RVNNNLQVIC 350
    DKIFRHWFSA PLKSSAVSFQ LQLQLQEAVQ ECADPGVPSG NTRRAASSVF 400
    WKLRQLLQAT LRELQEAEK 419
    Length:419
    Mass (Da):46,420
    Last modified:May 18, 2010 - v3
    Checksum:i320959B6D70EA7DF
    GO
    Isoform 2 (identifier: Q0P6D2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-299: Missing.

    Show »
    Length:120
    Mass (Da):13,791
    Checksum:i7723C3C9CAA09489
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 299299Missing in isoform 2. 1 PublicationVSP_025146Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC009704 Genomic DNA. No translation available.
    BC019628 mRNA. Translation: AAH19628.1.
    CCDSiCCDS42445.2. [Q0P6D2-1]
    RefSeqiNP_001037834.2. NM_001044369.2. [Q0P6D2-1]
    UniGeneiHs.371690.

    Genome annotation databases

    EnsembliENST00000343998; ENSP00000344331; ENSG00000187773. [Q0P6D2-1]
    ENST00000400291; ENSP00000383148; ENSG00000187773. [Q0P6D2-2]
    GeneIDi125704.
    KEGGihsa:125704.
    UCSCiuc002llk.3. human. [Q0P6D2-1]

    Polymorphism databases

    DMDMi296439351.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC009704 Genomic DNA. No translation available.
    BC019628 mRNA. Translation: AAH19628.1 .
    CCDSi CCDS42445.2. [Q0P6D2-1 ]
    RefSeqi NP_001037834.2. NM_001044369.2. [Q0P6D2-1 ]
    UniGenei Hs.371690.

    3D structure databases

    ProteinModelPortali Q0P6D2.
    SMRi Q0P6D2. Positions 194-301.
    ModBasei Search...
    MobiDBi Search...

    Polymorphism databases

    DMDMi 296439351.

    Proteomic databases

    PaxDbi Q0P6D2.
    PRIDEi Q0P6D2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000343998 ; ENSP00000344331 ; ENSG00000187773 . [Q0P6D2-1 ]
    ENST00000400291 ; ENSP00000383148 ; ENSG00000187773 . [Q0P6D2-2 ]
    GeneIDi 125704.
    KEGGi hsa:125704.
    UCSCi uc002llk.3. human. [Q0P6D2-1 ]

    Organism-specific databases

    CTDi 125704.
    GeneCardsi GC18M072102.
    HGNCi HGNC:31729. FAM69C.
    HPAi HPA048928.
    MIMi 614544. gene.
    neXtProti NX_Q0P6D2.
    PharmGKBi PA165428999.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG71854.
    HOGENOMi HOG000111953.
    HOVERGENi HBG094879.
    InParanoidi Q0P6D2.
    OMAi CEDLCVA.
    OrthoDBi EOG779NZ7.
    PhylomeDBi Q0P6D2.
    TreeFami TF313319.

    Miscellaneous databases

    GenomeRNAii 125704.
    NextBioi 81548.
    PROi Q0P6D2.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q0P6D2.
    CleanExi HS_C18orf51.
    Genevestigatori Q0P6D2.

    Family and domain databases

    InterProi IPR022049. FAM69_kinase_dom.
    IPR029244. FAM69_N.
    IPR011009. Kinase-like_dom.
    [Graphical view ]
    Pfami PF12260. PIP49_C. 1 hit.
    PF14875. PIP49_N. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56112. SSF56112. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORM 2).
      Tissue: Testis.

    Entry informationi

    Entry nameiFA69C_HUMAN
    AccessioniPrimary (citable) accession number: Q0P6D2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 15, 2007
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 70 of the entry and version 3 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 18
      Human chromosome 18: 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