RASF8_HUMAN
ID RASF8_HUMAN Reviewed; 419 AA.
AC Q8NHQ8; A8K1Z0; O95647; Q5SCI2; Q76KB6;
DT 09-MAY-2003, integrated into UniProtKB/Swiss-Prot.
DT 21-JUN-2005, sequence version 2.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=Ras association domain-containing protein 8;
DE AltName: Full=Carcinoma-associated protein HOJ-1;
GN Name=RASSF8; Synonyms=C12orf2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Yanagitani N., Kohno T., Yokota J.;
RT "Search for genes at a human lung adenocarcinoma susceptibility locus,
RT possibly syntenic to the mouse Pas1 locus.";
RL Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Lung;
RA Falvella F.S., Manenti G., Spinola M., Pignatiello C., Ravagnani F.,
RA Conti B., Pastorino U., Dragani T.A.;
RT "Population-based association study on two candidate lung adenocarcinoma
RT modifier genes flanking the D12S1034 locus.";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Hippocampus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-185.
RC TISSUE=Testis;
RA Hoon D.S.B., Yuzuki D.;
RT "HoJ-1 carcinoma associated gene.";
RL Submitted (DEC-1996) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP TISSUE SPECIFICITY.
RX PubMed=10951517; DOI=10.1038/sj.ejhg.5200497;
RA Debeer P., Schoenmakers E.F.P.M., Thoelen R., Holvoet M., Kuittinen T.,
RA Fabry G., Fryns J.-P., Goodman F.R., Van de Ven W.J.M.;
RT "Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly
RT associated chromosomal breakpoint.";
RL Eur. J. Hum. Genet. 8:561-570(2000).
RN [8]
RP CHROMOSOMAL TRANSLOCATION.
RX PubMed=11836357; DOI=10.1136/jmg.39.2.98;
RA Debeer P., Schoenmakers E.F.P.M., Twal W.O., Argraves W.S., De Smet L.,
RA Fryns J.-P., Van De Ven W.J.M.;
RT "The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a
RT complex type of synpolydactyly.";
RL J. Med. Genet. 39:98-104(2002).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-105, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-129; THR-131 AND SER-387, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [11]
RP STRUCTURE BY NMR OF 1-83.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of N-terminal domain of chromosome 12 open reading
RT frame 2.";
RL Submitted (NOV-2005) to the PDB data bank.
CC -!- INTERACTION:
CC Q8NHQ8-2; P14136: GFAP; NbExp=3; IntAct=EBI-10976415, EBI-744302;
CC Q8NHQ8-2; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-10976415, EBI-1055254;
CC Q8NHQ8-2; Q8TCT1: PHOSPHO1; NbExp=3; IntAct=EBI-10976415, EBI-14017370;
CC Q8NHQ8-2; Q96KQ4: PPP1R13B; NbExp=6; IntAct=EBI-10976415, EBI-1105153;
CC Q8NHQ8-2; Q05BL1: TP53BP2; NbExp=3; IntAct=EBI-10976415, EBI-11952721;
CC Q8NHQ8-2; P40222: TXLNA; NbExp=3; IntAct=EBI-10976415, EBI-359793;
CC Q8NHQ8-2; Q8N680: ZBTB2; NbExp=4; IntAct=EBI-10976415, EBI-2515601;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NHQ8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NHQ8-2; Sequence=VSP_014248;
CC -!- TISSUE SPECIFICITY: Widely expressed as a 6.2 kb transcript. A 2.2 kb
CC alternatively spliced transcript is expressed exclusively in testis.
CC {ECO:0000269|PubMed:10951517}.
CC -!- DISEASE: Note=A chromosomal aberration involving RASSF8 is found in a
CC complex type of synpolydactyly referred to as 3/3-prime/4
CC synpolydactyly associated with metacarpal and metatarsal synostoses.
CC Reciprocal translocation t(12;22)(p11.2;q13.3) with FBLN1.
CC {ECO:0000269|PubMed:11836357}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC95425.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AB093206; BAC98838.1; -; mRNA.
DR EMBL; AY665468; AAV54603.1; -; mRNA.
DR EMBL; AK290055; BAF82744.1; -; mRNA.
DR EMBL; CH471094; EAW96523.1; -; Genomic_DNA.
DR EMBL; BC030021; AAH30021.1; -; mRNA.
DR EMBL; U82396; AAC95425.1; ALT_FRAME; mRNA.
DR CCDS; CCDS53765.1; -. [Q8NHQ8-1]
DR CCDS; CCDS8705.1; -. [Q8NHQ8-2]
DR RefSeq; NP_001158218.1; NM_001164746.1. [Q8NHQ8-1]
DR RefSeq; NP_001158219.1; NM_001164747.1. [Q8NHQ8-1]
DR RefSeq; NP_001158220.1; NM_001164748.1. [Q8NHQ8-1]
DR RefSeq; NP_009142.2; NM_007211.4. [Q8NHQ8-2]
DR RefSeq; XP_006719090.1; XM_006719027.2. [Q8NHQ8-1]
DR RefSeq; XP_006719091.1; XM_006719028.1. [Q8NHQ8-1]
DR RefSeq; XP_016874235.1; XM_017018746.1. [Q8NHQ8-1]
DR PDB; 2CS4; NMR; -; A=1-82.
DR PDBsum; 2CS4; -.
DR AlphaFoldDB; Q8NHQ8; -.
DR SMR; Q8NHQ8; -.
DR BioGRID; 116395; 89.
DR IntAct; Q8NHQ8; 53.
DR MINT; Q8NHQ8; -.
DR STRING; 9606.ENSP00000384491; -.
DR iPTMnet; Q8NHQ8; -.
DR PhosphoSitePlus; Q8NHQ8; -.
DR BioMuta; RASSF8; -.
DR DMDM; 68068057; -.
DR EPD; Q8NHQ8; -.
DR jPOST; Q8NHQ8; -.
DR MassIVE; Q8NHQ8; -.
DR MaxQB; Q8NHQ8; -.
DR PaxDb; Q8NHQ8; -.
DR PeptideAtlas; Q8NHQ8; -.
DR PRIDE; Q8NHQ8; -.
DR ProteomicsDB; 73739; -. [Q8NHQ8-1]
DR ProteomicsDB; 73740; -. [Q8NHQ8-2]
DR Antibodypedia; 24278; 367 antibodies from 32 providers.
DR DNASU; 11228; -.
DR Ensembl; ENST00000282884.13; ENSP00000282884.9; ENSG00000123094.16. [Q8NHQ8-1]
DR Ensembl; ENST00000381352.7; ENSP00000370756.3; ENSG00000123094.16. [Q8NHQ8-2]
DR Ensembl; ENST00000405154.6; ENSP00000384491.1; ENSG00000123094.16. [Q8NHQ8-1]
DR Ensembl; ENST00000541490.5; ENSP00000443096.1; ENSG00000123094.16. [Q8NHQ8-1]
DR Ensembl; ENST00000542865.5; ENSP00000439839.1; ENSG00000123094.16. [Q8NHQ8-1]
DR Ensembl; ENST00000615708.4; ENSP00000481417.1; ENSG00000123094.16. [Q8NHQ8-2]
DR Ensembl; ENST00000688511.1; ENSP00000509001.1; ENSG00000123094.16. [Q8NHQ8-1]
DR Ensembl; ENST00000689434.1; ENSP00000509645.1; ENSG00000123094.16. [Q8NHQ8-1]
DR Ensembl; ENST00000689635.1; ENSP00000510086.1; ENSG00000123094.16. [Q8NHQ8-1]
DR GeneID; 11228; -.
DR KEGG; hsa:11228; -.
DR MANE-Select; ENST00000689635.1; ENSP00000510086.1; NM_001394098.1; NP_001381027.1.
DR UCSC; uc001rgx.4; human. [Q8NHQ8-1]
DR CTD; 11228; -.
DR DisGeNET; 11228; -.
DR GeneCards; RASSF8; -.
DR HGNC; HGNC:13232; RASSF8.
DR HPA; ENSG00000123094; Tissue enhanced (testis).
DR MIM; 608180; phenotype.
DR MIM; 608231; gene.
DR neXtProt; NX_Q8NHQ8; -.
DR OpenTargets; ENSG00000123094; -.
DR PharmGKB; PA25502; -.
DR VEuPathDB; HostDB:ENSG00000123094; -.
DR eggNOG; KOG1574; Eukaryota.
DR GeneTree; ENSGT00950000182839; -.
DR HOGENOM; CLU_031151_0_0_1; -.
DR InParanoid; Q8NHQ8; -.
DR OMA; VEIRYWE; -.
DR PhylomeDB; Q8NHQ8; -.
DR TreeFam; TF318385; -.
DR PathwayCommons; Q8NHQ8; -.
DR SignaLink; Q8NHQ8; -.
DR BioGRID-ORCS; 11228; 15 hits in 1072 CRISPR screens.
DR ChiTaRS; RASSF8; human.
DR EvolutionaryTrace; Q8NHQ8; -.
DR GeneWiki; RASSF8; -.
DR GenomeRNAi; 11228; -.
DR Pharos; Q8NHQ8; Tbio.
DR PRO; PR:Q8NHQ8; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q8NHQ8; protein.
DR Bgee; ENSG00000123094; Expressed in sperm and 168 other tissues.
DR ExpressionAtlas; Q8NHQ8; baseline and differential.
DR Genevisible; Q8NHQ8; HS.
DR GO; GO:0007165; P:signal transduction; IEA:InterPro.
DR InterPro; IPR033593; N-RASSF.
DR InterPro; IPR000159; RA_dom.
DR InterPro; IPR029071; Ubiquitin-like_domsf.
DR PANTHER; PTHR15286; PTHR15286; 1.
DR Pfam; PF00788; RA; 1.
DR SMART; SM00314; RA; 1.
DR SUPFAM; SSF54236; SSF54236; 1.
DR PROSITE; PS50200; RA; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Chromosomal rearrangement;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..419
FT /note="Ras association domain-containing protein 8"
FT /id="PRO_0000089840"
FT DOMAIN 1..82
FT /note="Ras-associating"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00166"
FT MOD_RES 105
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 129
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 131
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 387
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 380..419
FT /note="EAPFQSGSLKRPGSSRQLPSNLRILQNPISSGFNPEGIYV -> GIIILSDK
FT QECKD (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014248"
FT CONFLICT 15
FT /note="C -> Y (in Ref. 1; BAC98838)"
FT /evidence="ECO:0000305"
FT STRAND 5..7
FT /evidence="ECO:0007829|PDB:2CS4"
FT STRAND 10..12
FT /evidence="ECO:0007829|PDB:2CS4"
FT STRAND 15..17
FT /evidence="ECO:0007829|PDB:2CS4"
FT STRAND 19..21
FT /evidence="ECO:0007829|PDB:2CS4"
FT HELIX 23..34
FT /evidence="ECO:0007829|PDB:2CS4"
FT STRAND 38..46
FT /evidence="ECO:0007829|PDB:2CS4"
FT STRAND 49..52
FT /evidence="ECO:0007829|PDB:2CS4"
FT STRAND 55..57
FT /evidence="ECO:0007829|PDB:2CS4"
FT HELIX 59..64
FT /evidence="ECO:0007829|PDB:2CS4"
FT HELIX 67..69
FT /evidence="ECO:0007829|PDB:2CS4"
FT STRAND 74..81
FT /evidence="ECO:0007829|PDB:2CS4"
SQ SEQUENCE 419 AA; 48327 MW; 409223F6BE1C204A CRC64;
MELKVWVDGV QRIVCGVTEV TTCQEVVIAL AQAIGRTGRY TLIEKWRDTE RHLAPHENPI
ISLNKWGQYA SDVQLILRRT GPSLSERPTS DSVARIPERT LYRQSLPPLA KLRPQIDKSI
KRREPKRKSL TFTGGAKGLM DIFGKGKETE FKQKVLNNCK TTADELKKLI RLQTEKLQSI
EKQLESNEIE IRFWEQKYNS NLEEEIVRLE QKIKRNDVEI EEEEFWENEL QIEQENEKQL
KDQLQEIRQK ITECENKLKD YLAQIRTMES GLEAEKLQRE VQEAQVNEEE VKGKIGKVKG
EIDIQGQQSL RLENGIKAVE RSLGQATKRL QDKEQELEQL TKELRQVNLQ QFIQQTGTKV
TVLPAEPIEI EASHADIERE APFQSGSLKR PGSSRQLPSN LRILQNPISS GFNPEGIYV
