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Protein

Ras association domain-containing protein 8

Gene

RASSF8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000123094.15.
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 FBLN1.1 Publication

Organism-specific databases

DisGeNETi11228.
MIMi608180. phenotype.
OpenTargetsiENSG00000123094.
PharmGKBiPA25502.

Polymorphism and mutation databases

BioMutaiRASSF8.
DMDMi68068057.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000898401 – 419Ras association domain-containing protein 8Add BLAST419

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei105PhosphoserineCombined sources1
Modified residuei129PhosphoserineCombined sources1
Modified residuei131PhosphothreonineCombined sources1
Modified residuei387PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NHQ8.
MaxQBiQ8NHQ8.
PaxDbiQ8NHQ8.
PeptideAtlasiQ8NHQ8.
PRIDEiQ8NHQ8.

PTM databases

iPTMnetiQ8NHQ8.
PhosphoSitePlusiQ8NHQ8.

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

BgeeiENSG00000123094.
CleanExiHS_RASSF8.
ExpressionAtlasiQ8NHQ8. baseline and differential.
GenevisibleiQ8NHQ8. HS.

Organism-specific databases

HPAiHPA038163.
HPA038164.

Interactioni

Protein-protein interaction databases

BioGridi116395. 51 interactors.
IntActiQ8NHQ8. 35 interactors.
MINTiMINT-1445675.
STRINGi9606.ENSP00000282884.

Structurei

Secondary structure

1419
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi5 – 7Combined sources3
Beta strandi10 – 12Combined sources3
Beta strandi15 – 17Combined sources3
Beta strandi19 – 21Combined sources3
Helixi23 – 34Combined sources12
Beta strandi38 – 46Combined sources9
Beta strandi49 – 52Combined sources4
Beta strandi55 – 57Combined sources3
Helixi59 – 64Combined sources6
Helixi67 – 69Combined sources3
Beta strandi74 – 81Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CS4NMR-A1-82[»]
ProteinModelPortaliQ8NHQ8.
SMRiQ8NHQ8.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8NHQ8.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 82Ras-associatingPROSITE-ProRule annotationAdd BLAST82

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi181 – 290Glu-richAdd BLAST110

Phylogenomic databases

eggNOGiKOG1574. Eukaryota.
ENOG410XPWB. LUCA.
GeneTreeiENSGT00530000063648.
HOGENOMiHOG000013031.
HOVERGENiHBG050971.
InParanoidiQ8NHQ8.
KOiK09855.
OMAiAQIQTME.
OrthoDBiEOG091G0RF3.
PhylomeDBiQ8NHQ8.
TreeFamiTF318385.

Family and domain databases

InterProiView protein in InterPro
IPR033593. N-RASSF.
IPR000159. RA_dom.
IPR033632. RASSF8.
IPR029071. Ubiquitin-like_domsf.
PANTHERiPTHR15286. PTHR15286. 1 hit.
PTHR15286:SF9. PTHR15286:SF9. 1 hit.
PfamiView protein in Pfam
PF00788. RA. 1 hit.
SMARTiView protein in SMART
SM00314. RA. 1 hit.
SUPFAMiSSF54236. SSF54236. 1 hit.
PROSITEiView protein in PROSITE
PS50200. RA. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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 differs from that shown. Reason: Frameshift at position 108.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti15C → Y in BAC98838 (Ref. 1) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_014248380 – 419EAPFQ…EGIYV → GIIILSDKQECKD in isoform 2. 1 PublicationAdd BLAST40

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_006719027.2. [Q8NHQ8-1]
XP_006719091.1. XM_006719028.1. [Q8NHQ8-1]
XP_016874235.1. XM_017018746.1. [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.4. human. [Q8NHQ8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiRASF8_HUMAN
AccessioniPrimary (citable) accession number: Q8NHQ8
Secondary accession number(s): A8K1Z0
, O95647, Q5SCI2, Q76KB6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 9, 2003
Last sequence update: June 21, 2005
Last modified: November 22, 2017
This is version 134 of the entry and version 2 of the sequence. See 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