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Q8NHQ8

- RASF8_HUMAN

UniProt

Q8NHQ8 - RASF8_HUMAN

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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

Functioni

GO - Biological processi

  1. signal transduction Source: InterPro
Complete GO annotation...

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

BgeeiQ8NHQ8.
CleanExiHS_RASSF8.
ExpressionAtlasiQ8NHQ8. baseline and differential.
GenevestigatoriQ8NHQ8.

Organism-specific databases

HPAiHPA038164.

Interactioni

Protein-protein interaction databases

BioGridi116395. 29 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, 174-222.
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.
GeneTreeiENSGT00530000063648.
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

        10         20         30         40         50
MELKVWVDGV QRIVCGVTEV TTCQEVVIAL AQAIGRTGRY TLIEKWRDTE
60 70 80 90 100
RHLAPHENPI ISLNKWGQYA SDVQLILRRT GPSLSERPTS DSVARIPERT
110 120 130 140 150
LYRQSLPPLA KLRPQIDKSI KRREPKRKSL TFTGGAKGLM DIFGKGKETE
160 170 180 190 200
FKQKVLNNCK TTADELKKLI RLQTEKLQSI EKQLESNEIE IRFWEQKYNS
210 220 230 240 250
NLEEEIVRLE QKIKRNDVEI EEEEFWENEL QIEQENEKQL KDQLQEIRQK
260 270 280 290 300
ITECENKLKD YLAQIRTMES GLEAEKLQRE VQEAQVNEEE VKGKIGKVKG
310 320 330 340 350
EIDIQGQQSL RLENGIKAVE RSLGQATKRL QDKEQELEQL TKELRQVNLQ
360 370 380 390 400
QFIQQTGTKV TVLPAEPIEI EASHADIERE APFQSGSLKR PGSSRQLPSN
410
LRILQNPISS GFNPEGIYV
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]
ENST00000615708; ENSP00000481417; ENSG00000123094. [Q8NHQ8-2]
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, 174-222.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116395. 29 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 ]
ENST00000615708 ; ENSP00000481417 ; ENSG00000123094 . [Q8NHQ8-2 ]
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.
GeneTreei ENSGT00530000063648.
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

Bgeei Q8NHQ8.
CleanExi HS_RASSF8.
ExpressionAtlasi Q8NHQ8. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 109 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