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Q8N6K7

- SAMD3_HUMAN

UniProt

Q8N6K7 - SAMD3_HUMAN

Protein

Sterile alpha motif domain-containing protein 3

Gene

SAMD3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 2 (06 Mar 2007)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. protein binding Source: IntAct

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sterile alpha motif domain-containing protein 3
    Short name:
    SAM domain-containing protein 3
    Gene namesi
    Name:SAMD3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21574. SAMD3.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134880481.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 520520Sterile alpha motif domain-containing protein 3PRO_0000279496Add
    BLAST

    Proteomic databases

    PaxDbiQ8N6K7.
    PRIDEiQ8N6K7.

    PTM databases

    PhosphoSiteiQ8N6K7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N6K7.
    BgeeiQ8N6K7.
    CleanExiHS_SAMD3.
    GenevestigatoriQ8N6K7.

    Organism-specific databases

    HPAiHPA028992.
    HPA028993.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    KDM1AO603412EBI-748741,EBI-710124

    Protein-protein interaction databases

    BioGridi127533. 3 interactions.
    IntActiQ8N6K7. 3 interactions.
    MINTiMINT-1482339.
    STRINGi9606.ENSP00000296977.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N6K7.
    SMRiQ8N6K7. Positions 2-70.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini4 – 7168SAMPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 SAM (sterile alpha motif) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG128347.
    HOGENOMiHOG000154251.
    HOVERGENiHBG083919.
    InParanoidiQ8N6K7.
    OMAiTDIYKKT.
    OrthoDBiEOG7TF78M.
    PhylomeDBiQ8N6K7.
    TreeFamiTF336040.

    Family and domain databases

    Gene3Di1.10.150.50. 1 hit.
    InterProiIPR001660. SAM.
    IPR013761. SAM/pointed.
    IPR021129. SAM_type1.
    [Graphical view]
    PfamiPF00536. SAM_1. 1 hit.
    [Graphical view]
    SMARTiSM00454. SAM. 1 hit.
    [Graphical view]
    SUPFAMiSSF47769. SSF47769. 1 hit.
    PROSITEiPS50105. SAM_DOMAIN. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N6K7-1) [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

    METWSVEQVC SWLVEKNLGE LVHRFQEEEV SGAALLALND RMVQQLVKKI    50
    GHQAVLMDLI KKYKQNTQGL KSPENPKKAA LVMQTEAARD YRDEESSSPA 100
    RHGEQMPSFY PAENLDNGLI DQRVLKQRRN VKQILARSKA LQWTKSYVLP 150
    EFPYDVKCML AEQKCPDHSM RIRIIEFLQA DMTKYLEGSL YPSTQQYNDV 200
    VNALLQAHPF LDEDGCGFFL WKRALKDRFK YVRRPIEDDE QVIRNKCKFG 250
    HRRGQTRKSL ADIRFDEIKL VQIKEEAVCF DSELDEHIKW FQQEYVKTEK 300
    DWREIDKRMS QTLEIRRKMI GSRTPLKDIL KLFPFLKCPY QMFREFQLLT 350
    RTDIYKKTRH ILESYSENIL TSFSVVDNPI NIVLQEKMKH YTDEDMLKYM 400
    KMTATCLLLP DVFGDDPSLF VIMNEQVQVS TPVLEVKNPF NMEVCEFSLY 450
    LERERLTKVD DCVTALAALV AAFHVFRIEC PRRLSQTFNF LETLIFDMHS 500
    PYFPSLKEKE NEVGFQHPLT 520
    Length:520
    Mass (Da):61,237
    Last modified:March 6, 2007 - v2
    Checksum:i660A7C0CF9CC6261
    GO
    Isoform 2 (identifier: Q8N6K7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         219-221: FLW → AGV
         222-520: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:221
    Mass (Da):25,303
    Checksum:i8410F79CB4485F26
    GO
    Isoform 3 (identifier: Q8N6K7-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MRSSKLQSPSPSQEKQGVYLQETAM

    Show »
    Length:544
    Mass (Da):63,899
    Checksum:i5BB1EBB0E561D42A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti276 – 2761E → V in BAG63582. (PubMed:14702039)Curated
    Sequence conflicti472 – 4721A → G in BAC03765. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti94 – 941E → K.1 Publication
    Corresponds to variant rs17852709 [ dbSNP | Ensembl ].
    VAR_030910
    Natural varianti181 – 1811D → N.1 Publication
    VAR_069418

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MRSSKLQSPSPSQEKQGVYL QETAM in isoform 3. 1 PublicationVSP_055738
    Alternative sequencei219 – 2213FLW → AGV in isoform 2. 1 PublicationVSP_023459
    Alternative sequencei222 – 520299Missing in isoform 2. 1 PublicationVSP_023460Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK091351 mRNA. Translation: BAC03644.1.
    AK091882 mRNA. Translation: BAC03765.1.
    AK302228 mRNA. Translation: BAG63582.1.
    AL355581 Genomic DNA. Translation: CAI95328.1.
    AL121947 Genomic DNA. No translation available.
    CH471051 Genomic DNA. Translation: EAW48069.1.
    CH471051 Genomic DNA. Translation: EAW48070.1.
    BC029851 mRNA. Translation: AAH29851.1.
    BC119757 mRNA. Translation: AAI19758.1.
    BC119758 mRNA. Translation: AAI19759.1.
    CCDSiCCDS34539.1. [Q8N6K7-1]
    RefSeqiNP_001017373.2. NM_001017373.3. [Q8N6K7-1]
    NP_001245204.1. NM_001258275.2. [Q8N6K7-1]
    UniGeneiHs.440508.

    Genome annotation databases

    EnsembliENST00000324172; ENSP00000324874; ENSG00000164483. [Q8N6K7-2]
    ENST00000368134; ENSP00000357116; ENSG00000164483. [Q8N6K7-1]
    ENST00000437477; ENSP00000391163; ENSG00000164483. [Q8N6K7-1]
    ENST00000439090; ENSP00000403565; ENSG00000164483. [Q8N6K7-1]
    ENST00000457563; ENSP00000402092; ENSG00000164483. [Q8N6K7-3]
    GeneIDi154075.
    KEGGihsa:154075.
    UCSCiuc003qbw.4. human. [Q8N6K7-1]
    uc003qby.4. human. [Q8N6K7-2]

    Polymorphism databases

    DMDMi147668009.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK091351 mRNA. Translation: BAC03644.1 .
    AK091882 mRNA. Translation: BAC03765.1 .
    AK302228 mRNA. Translation: BAG63582.1 .
    AL355581 Genomic DNA. Translation: CAI95328.1 .
    AL121947 Genomic DNA. No translation available.
    CH471051 Genomic DNA. Translation: EAW48069.1 .
    CH471051 Genomic DNA. Translation: EAW48070.1 .
    BC029851 mRNA. Translation: AAH29851.1 .
    BC119757 mRNA. Translation: AAI19758.1 .
    BC119758 mRNA. Translation: AAI19759.1 .
    CCDSi CCDS34539.1. [Q8N6K7-1 ]
    RefSeqi NP_001017373.2. NM_001017373.3. [Q8N6K7-1 ]
    NP_001245204.1. NM_001258275.2. [Q8N6K7-1 ]
    UniGenei Hs.440508.

    3D structure databases

    ProteinModelPortali Q8N6K7.
    SMRi Q8N6K7. Positions 2-70.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127533. 3 interactions.
    IntActi Q8N6K7. 3 interactions.
    MINTi MINT-1482339.
    STRINGi 9606.ENSP00000296977.

    PTM databases

    PhosphoSitei Q8N6K7.

    Polymorphism databases

    DMDMi 147668009.

    Proteomic databases

    PaxDbi Q8N6K7.
    PRIDEi Q8N6K7.

    Protocols and materials databases

    DNASUi 154075.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000324172 ; ENSP00000324874 ; ENSG00000164483 . [Q8N6K7-2 ]
    ENST00000368134 ; ENSP00000357116 ; ENSG00000164483 . [Q8N6K7-1 ]
    ENST00000437477 ; ENSP00000391163 ; ENSG00000164483 . [Q8N6K7-1 ]
    ENST00000439090 ; ENSP00000403565 ; ENSG00000164483 . [Q8N6K7-1 ]
    ENST00000457563 ; ENSP00000402092 ; ENSG00000164483 . [Q8N6K7-3 ]
    GeneIDi 154075.
    KEGGi hsa:154075.
    UCSCi uc003qbw.4. human. [Q8N6K7-1 ]
    uc003qby.4. human. [Q8N6K7-2 ]

    Organism-specific databases

    CTDi 154075.
    GeneCardsi GC06M130465.
    HGNCi HGNC:21574. SAMD3.
    HPAi HPA028992.
    HPA028993.
    neXtProti NX_Q8N6K7.
    PharmGKBi PA134880481.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG128347.
    HOGENOMi HOG000154251.
    HOVERGENi HBG083919.
    InParanoidi Q8N6K7.
    OMAi TDIYKKT.
    OrthoDBi EOG7TF78M.
    PhylomeDBi Q8N6K7.
    TreeFami TF336040.

    Miscellaneous databases

    GenomeRNAii 154075.
    NextBioi 87224.
    PROi Q8N6K7.

    Gene expression databases

    ArrayExpressi Q8N6K7.
    Bgeei Q8N6K7.
    CleanExi HS_SAMD3.
    Genevestigatori Q8N6K7.

    Family and domain databases

    Gene3Di 1.10.150.50. 1 hit.
    InterProi IPR001660. SAM.
    IPR013761. SAM/pointed.
    IPR021129. SAM_type1.
    [Graphical view ]
    Pfami PF00536. SAM_1. 1 hit.
    [Graphical view ]
    SMARTi SM00454. SAM. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47769. SSF47769. 1 hit.
    PROSITEi PS50105. SAM_DOMAIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
      Tissue: Brain and Kidney.
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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), VARIANT LYS-94.
      Tissue: Brain.
    5. Cited for: VARIANT ASN-181.

    Entry informationi

    Entry nameiSAMD3_HUMAN
    AccessioniPrimary (citable) accession number: Q8N6K7
    Secondary accession number(s): B4DY20
    , E1P576, J3KQK4, Q4VXD8, Q8NAY1, Q8NB96
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 6, 2007
    Last sequence update: March 6, 2007
    Last modified: October 1, 2014
    This is version 87 of the entry and version 2 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 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3