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Q8NHQ8

- RASF8_HUMAN

UniProt

Q8NHQ8 - RASF8_HUMAN

Protein

Ras association domain-containing protein 8

Gene

RASSF8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 2 (21 Jun 2005)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. signal transduction Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ras association domain-containing protein 8
    Alternative name(s):
    Carcinoma-associated protein HOJ-1
    Gene namesi
    Name:RASSF8
    Synonyms:C12orf2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:13232. RASSF8.

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving RASSF8 is found in a complex type of synpolydactyly referred to as 3/3-prime/4 synpolydactyly associated with metacarpal and metatarsal synostoses. Reciprocal translocation t(12;22)(p11.2;q13.3) with FBLN1.

    Organism-specific databases

    MIMi608180. phenotype.
    PharmGKBiPA25502.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 419419Ras association domain-containing protein 8PRO_0000089840Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei105 – 1051Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8NHQ8.
    PaxDbiQ8NHQ8.
    PRIDEiQ8NHQ8.

    PTM databases

    PhosphoSiteiQ8NHQ8.

    Expressioni

    Tissue specificityi

    Widely expressed as a 6.2 kb transcript. A 2.2 kb alternatively spliced transcript is expressed exclusively in testis.1 Publication

    Gene expression databases

    ArrayExpressiQ8NHQ8.
    BgeeiQ8NHQ8.
    CleanExiHS_RASSF8.
    GenevestigatoriQ8NHQ8.

    Organism-specific databases

    HPAiHPA038164.

    Interactioni

    Protein-protein interaction databases

    BioGridi116395. 15 interactions.
    IntActiQ8NHQ8. 14 interactions.
    MINTiMINT-1445675.
    STRINGi9606.ENSP00000282884.

    Structurei

    Secondary structure

    1
    419
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi5 – 73
    Beta strandi10 – 123
    Beta strandi15 – 173
    Beta strandi19 – 213
    Helixi23 – 3412
    Beta strandi38 – 469
    Beta strandi49 – 524
    Beta strandi55 – 573
    Helixi59 – 646
    Helixi67 – 693
    Beta strandi74 – 818

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2CS4NMR-A1-82[»]
    ProteinModelPortaliQ8NHQ8.
    SMRiQ8NHQ8. Positions 1-83.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ8NHQ8.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 8282Ras-associatingPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi181 – 290110Glu-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 Ras-associating domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG306245.
    HOGENOMiHOG000013031.
    HOVERGENiHBG050971.
    InParanoidiQ8NHQ8.
    KOiK09855.
    OMAiMDIFGKS.
    OrthoDBiEOG70GMG6.
    PhylomeDBiQ8NHQ8.
    TreeFamiTF318385.

    Family and domain databases

    InterProiIPR000159. Ras-assoc.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view]
    PfamiPF00788. RA. 1 hit.
    [Graphical view]
    SMARTiSM00314. RA. 1 hit.
    [Graphical view]
    SUPFAMiSSF54236. SSF54236. 1 hit.
    PROSITEiPS50200. RA. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NHQ8-1) [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

    MELKVWVDGV QRIVCGVTEV TTCQEVVIAL AQAIGRTGRY TLIEKWRDTE    50
    RHLAPHENPI ISLNKWGQYA SDVQLILRRT GPSLSERPTS DSVARIPERT 100
    LYRQSLPPLA KLRPQIDKSI KRREPKRKSL TFTGGAKGLM DIFGKGKETE 150
    FKQKVLNNCK TTADELKKLI RLQTEKLQSI EKQLESNEIE IRFWEQKYNS 200
    NLEEEIVRLE QKIKRNDVEI EEEEFWENEL QIEQENEKQL KDQLQEIRQK 250
    ITECENKLKD YLAQIRTMES GLEAEKLQRE VQEAQVNEEE VKGKIGKVKG 300
    EIDIQGQQSL RLENGIKAVE RSLGQATKRL QDKEQELEQL TKELRQVNLQ 350
    QFIQQTGTKV TVLPAEPIEI EASHADIERE APFQSGSLKR PGSSRQLPSN 400
    LRILQNPISS GFNPEGIYV 419
    Length:419
    Mass (Da):48,327
    Last modified:June 21, 2005 - v2
    Checksum:i409223F6BE1C204A
    GO
    Isoform 2 (identifier: Q8NHQ8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         380-419: EAPFQSGSLKRPGSSRQLPSNLRILQNPISSGFNPEGIYV → GIIILSDKQECKD

    Show »
    Length:392
    Mass (Da):45,446
    Checksum:iADA799FFB41733AE
    GO

    Sequence cautioni

    The sequence AAC95425.1 differs from that shown. Reason: Frameshift at position 108.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti15 – 151C → Y in BAC98838. 1 PublicationCurated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei380 – 41940EAPFQ…EGIYV → GIIILSDKQECKD in isoform 2. 1 PublicationVSP_014248Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB093206 mRNA. Translation: BAC98838.1.
    AY665468 mRNA. Translation: AAV54603.1.
    AK290055 mRNA. Translation: BAF82744.1.
    CH471094 Genomic DNA. Translation: EAW96523.1.
    BC030021 mRNA. Translation: AAH30021.1.
    U82396 mRNA. Translation: AAC95425.1. Frameshift.
    CCDSiCCDS53765.1. [Q8NHQ8-1]
    CCDS8705.1. [Q8NHQ8-2]
    RefSeqiNP_001158218.1. NM_001164746.1. [Q8NHQ8-1]
    NP_001158219.1. NM_001164747.1. [Q8NHQ8-1]
    NP_001158220.1. NM_001164748.1. [Q8NHQ8-1]
    NP_009142.2. NM_007211.4. [Q8NHQ8-2]
    XP_006719090.1. XM_006719027.1. [Q8NHQ8-1]
    XP_006719091.1. XM_006719028.1. [Q8NHQ8-1]
    UniGeneiHs.696433.

    Genome annotation databases

    EnsembliENST00000282884; ENSP00000282884; ENSG00000123094. [Q8NHQ8-1]
    ENST00000381352; ENSP00000370756; ENSG00000123094. [Q8NHQ8-2]
    ENST00000405154; ENSP00000384491; ENSG00000123094. [Q8NHQ8-1]
    ENST00000541490; ENSP00000443096; ENSG00000123094. [Q8NHQ8-1]
    ENST00000542865; ENSP00000439839; ENSG00000123094. [Q8NHQ8-1]
    GeneIDi11228.
    KEGGihsa:11228.
    UCSCiuc001rgx.3. human. [Q8NHQ8-1]
    uc001rgz.3. human. [Q8NHQ8-2]

    Polymorphism databases

    DMDMi68068057.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB093206 mRNA. Translation: BAC98838.1 .
    AY665468 mRNA. Translation: AAV54603.1 .
    AK290055 mRNA. Translation: BAF82744.1 .
    CH471094 Genomic DNA. Translation: EAW96523.1 .
    BC030021 mRNA. Translation: AAH30021.1 .
    U82396 mRNA. Translation: AAC95425.1 . Frameshift.
    CCDSi CCDS53765.1. [Q8NHQ8-1 ]
    CCDS8705.1. [Q8NHQ8-2 ]
    RefSeqi NP_001158218.1. NM_001164746.1. [Q8NHQ8-1 ]
    NP_001158219.1. NM_001164747.1. [Q8NHQ8-1 ]
    NP_001158220.1. NM_001164748.1. [Q8NHQ8-1 ]
    NP_009142.2. NM_007211.4. [Q8NHQ8-2 ]
    XP_006719090.1. XM_006719027.1. [Q8NHQ8-1 ]
    XP_006719091.1. XM_006719028.1. [Q8NHQ8-1 ]
    UniGenei Hs.696433.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2CS4 NMR - A 1-82 [» ]
    ProteinModelPortali Q8NHQ8.
    SMRi Q8NHQ8. Positions 1-83.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116395. 15 interactions.
    IntActi Q8NHQ8. 14 interactions.
    MINTi MINT-1445675.
    STRINGi 9606.ENSP00000282884.

    PTM databases

    PhosphoSitei Q8NHQ8.

    Polymorphism databases

    DMDMi 68068057.

    Proteomic databases

    MaxQBi Q8NHQ8.
    PaxDbi Q8NHQ8.
    PRIDEi Q8NHQ8.

    Protocols and materials databases

    DNASUi 11228.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000282884 ; ENSP00000282884 ; ENSG00000123094 . [Q8NHQ8-1 ]
    ENST00000381352 ; ENSP00000370756 ; ENSG00000123094 . [Q8NHQ8-2 ]
    ENST00000405154 ; ENSP00000384491 ; ENSG00000123094 . [Q8NHQ8-1 ]
    ENST00000541490 ; ENSP00000443096 ; ENSG00000123094 . [Q8NHQ8-1 ]
    ENST00000542865 ; ENSP00000439839 ; ENSG00000123094 . [Q8NHQ8-1 ]
    GeneIDi 11228.
    KEGGi hsa:11228.
    UCSCi uc001rgx.3. human. [Q8NHQ8-1 ]
    uc001rgz.3. human. [Q8NHQ8-2 ]

    Organism-specific databases

    CTDi 11228.
    GeneCardsi GC12P026111.
    HGNCi HGNC:13232. RASSF8.
    HPAi HPA038164.
    MIMi 608180. phenotype.
    608231. gene.
    neXtProti NX_Q8NHQ8.
    PharmGKBi PA25502.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG306245.
    HOGENOMi HOG000013031.
    HOVERGENi HBG050971.
    InParanoidi Q8NHQ8.
    KOi K09855.
    OMAi MDIFGKS.
    OrthoDBi EOG70GMG6.
    PhylomeDBi Q8NHQ8.
    TreeFami TF318385.

    Miscellaneous databases

    EvolutionaryTracei Q8NHQ8.
    GeneWikii RASSF8.
    GenomeRNAii 11228.
    NextBioi 42734.
    PROi Q8NHQ8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NHQ8.
    Bgeei Q8NHQ8.
    CleanExi HS_RASSF8.
    Genevestigatori Q8NHQ8.

    Family and domain databases

    InterProi IPR000159. Ras-assoc.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view ]
    Pfami PF00788. RA. 1 hit.
    [Graphical view ]
    SMARTi SM00314. RA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF54236. SSF54236. 1 hit.
    PROSITEi PS50200. RA. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Search for genes at a human lung adenocarcinoma susceptibility locus, possibly syntenic to the mouse Pas1 locus."
      Yanagitani N., Kohno T., Yokota J.
      Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Population-based association study on two candidate lung adenocarcinoma modifier genes flanking the D12S1034 locus."
      Falvella F.S., Manenti G., Spinola M., Pignatiello C., Ravagnani F., Conti B., Pastorino U., Dragani T.A.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Lung.
    3. "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] (ISOFORM 1).
      Tissue: Hippocampus.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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.
    6. "HoJ-1 carcinoma associated gene."
      Hoon D.S.B., Yuzuki D.
      Submitted (DEC-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-185.
      Tissue: Testis.
    7. "Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint."
      Debeer P., Schoenmakers E.F.P.M., Thoelen R., Holvoet M., Kuittinen T., Fabry G., Fryns J.-P., Goodman F.R., Van de Ven W.J.M.
      Eur. J. Hum. Genet. 8:561-570(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    8. "The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly."
      Debeer P., Schoenmakers E.F.P.M., Twal W.O., Argraves W.S., De Smet L., Fryns J.-P., Van De Ven W.J.M.
      J. Med. Genet. 39:98-104(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION.
    9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-105, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. "Solution structure of N-terminal domain of chromosome 12 open reading frame 2."
      RIKEN structural genomics initiative (RSGI)
      Submitted (NOV-2005) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 1-83.

    Entry informationi

    Entry nameiRASF8_HUMAN
    AccessioniPrimary (citable) accession number: Q8NHQ8
    Secondary accession number(s): A8K1Z0
    , O95647, Q5SCI2, Q76KB6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 9, 2003
    Last sequence update: June 21, 2005
    Last modified: October 1, 2014
    This is version 108 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3