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Q8NHQ8 (RASF8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 107. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ras association domain-containing protein 8
Alternative name(s):
Carcinoma-associated protein HOJ-1
Gene names
Name:RASSF8
Synonyms:C12orf2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length419 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Tissue specificity

Widely expressed as a 6.2 kb transcript. A 2.2 kb alternatively spliced transcript is expressed exclusively in testis. Ref.7

Involvement in disease

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.

Sequence similarities

Contains 1 Ras-associating domain.

Sequence caution

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

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processsignal transduction

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NHQ8-1)

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.
Isoform 2 (identifier: Q8NHQ8-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 419419Ras association domain-containing protein 8
PRO_0000089840

Regions

Domain1 – 8282Ras-associating
Compositional bias181 – 290110Glu-rich

Amino acid modifications

Modified residue1051Phosphoserine Ref.9

Natural variations

Alternative sequence380 – 41940EAPFQ…EGIYV → GIIILSDKQECKD in isoform 2.
VSP_014248

Experimental info

Sequence conflict151C → Y in BAC98838. Ref.1

Secondary structure

....................... 419
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 21, 2005. Version 2.
Checksum: 409223F6BE1C204A

FASTA41948,327
        10         20         30         40         50         60 
MELKVWVDGV QRIVCGVTEV TTCQEVVIAL AQAIGRTGRY TLIEKWRDTE RHLAPHENPI 

        70         80         90        100        110        120 
ISLNKWGQYA SDVQLILRRT GPSLSERPTS DSVARIPERT LYRQSLPPLA KLRPQIDKSI 

       130        140        150        160        170        180 
KRREPKRKSL TFTGGAKGLM DIFGKGKETE FKQKVLNNCK TTADELKKLI RLQTEKLQSI 

       190        200        210        220        230        240 
EKQLESNEIE IRFWEQKYNS NLEEEIVRLE QKIKRNDVEI EEEEFWENEL QIEQENEKQL 

       250        260        270        280        290        300 
KDQLQEIRQK ITECENKLKD YLAQIRTMES GLEAEKLQRE VQEAQVNEEE VKGKIGKVKG 

       310        320        330        340        350        360 
EIDIQGQQSL RLENGIKAVE RSLGQATKRL QDKEQELEQL TKELRQVNLQ QFIQQTGTKV 

       370        380        390        400        410 
TVLPAEPIEI EASHADIERE APFQSGSLKR PGSSRQLPSN LRILQNPISS GFNPEGIYV 

« Hide

Isoform 2 [UniParc].

Checksum: ADA799FFB41733AE
Show »

FASTA39245,446

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS53765.1. [Q8NHQ8-1]
CCDS8705.1. [Q8NHQ8-2]
RefSeqNP_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]
UniGeneHs.696433.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2CS4NMR-A1-82[»]
ProteinModelPortalQ8NHQ8.
SMRQ8NHQ8. Positions 1-83.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116395. 15 interactions.
IntActQ8NHQ8. 14 interactions.
MINTMINT-1445675.
STRING9606.ENSP00000282884.

PTM databases

PhosphoSiteQ8NHQ8.

Polymorphism databases

DMDM68068057.

Proteomic databases

MaxQBQ8NHQ8.
PaxDbQ8NHQ8.
PRIDEQ8NHQ8.

Protocols and materials databases

DNASU11228.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000282884; ENSP00000282884; ENSG00000123094. [Q8NHQ8-1]
ENST00000381352; ENSP00000370756; ENSG00000123094. [Q8NHQ8-2]
ENST00000405154; ENSP00000384491; ENSG00000123094. [Q8NHQ8-1]
ENST00000541490; ENSP00000443096; ENSG00000123094. [Q8NHQ8-1]
ENST00000542865; ENSP00000439839; ENSG00000123094. [Q8NHQ8-1]
GeneID11228.
KEGGhsa:11228.
UCSCuc001rgx.3. human. [Q8NHQ8-1]
uc001rgz.3. human. [Q8NHQ8-2]

Organism-specific databases

CTD11228.
GeneCardsGC12P026111.
HGNCHGNC:13232. RASSF8.
HPAHPA038164.
MIM608180. phenotype.
608231. gene.
neXtProtNX_Q8NHQ8.
PharmGKBPA25502.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG306245.
HOGENOMHOG000013031.
HOVERGENHBG050971.
InParanoidQ8NHQ8.
KOK09855.
OMAMDIFGKS.
OrthoDBEOG70GMG6.
PhylomeDBQ8NHQ8.
TreeFamTF318385.

Gene expression databases

ArrayExpressQ8NHQ8.
BgeeQ8NHQ8.
CleanExHS_RASSF8.
GenevestigatorQ8NHQ8.

Family and domain databases

InterProIPR000159. Ras-assoc.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamPF00788. RA. 1 hit.
[Graphical view]
SMARTSM00314. RA. 1 hit.
[Graphical view]
SUPFAMSSF54236. SSF54236. 1 hit.
PROSITEPS50200. RA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ8NHQ8.
GeneWikiRASSF8.
GenomeRNAi11228.
NextBio42734.
PROQ8NHQ8.
SOURCESearch...

Entry information

Entry nameRASF8_HUMAN
AccessionPrimary (citable) accession number: Q8NHQ8
Secondary accession number(s): A8K1Z0 expand/collapse secondary AC list , O95647, Q5SCI2, Q76KB6
Entry history
Integrated into UniProtKB/Swiss-Prot: May 9, 2003
Last sequence update: June 21, 2005
Last modified: July 9, 2014
This is version 107 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM