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Protein

Ras association domain-containing protein 8

Gene

RASSF8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
MIMi608231 gene
neXtProtiNX_Q8NHQ8

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
ProteomicsDBi73739
73740 [Q8NHQ8-2]

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 Expressed in 198 organ(s), highest expression level in testis
CleanExiHS_RASSF8
ExpressionAtlasiQ8NHQ8 baseline and differential
GenevisibleiQ8NHQ8 HS

Organism-specific databases

HPAiHPA038163
HPA038164

Interactioni

Protein-protein interaction databases

BioGridi116395, 51 interactors
IntActiQ8NHQ8, 35 interactors
MINTiQ8NHQ8
STRINGi9606.ENSP00000282884

Structurei

Secondary structure

1419
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H7J1F5H7J1_HUMAN
Ras association domain-containing p...
RASSF8
219Annotation score:
F5H0S5F5H0S5_HUMAN
Ras association domain-containing p...
RASSF8
208Annotation score:
Q6IB99Q6IB99_HUMAN
C12orf2 protein
RASSF8 C12orf2
109Annotation score:
H0YG85H0YG85_HUMAN
Ras association domain-containing p...
RASSF8
208Annotation score:
F5H8B9F5H8B9_HUMAN
Ras association domain-containing p...
RASSF8
91Annotation score:
F5H8C5F5H8C5_HUMAN
Ras association domain-containing p...
RASSF8
159Annotation score:
F5GYP8F5GYP8_HUMAN
Ras association domain-containing p...
RASSF8
122Annotation score:
F5H343F5H343_HUMAN
Ras association domain-containing p...
RASSF8
29Annotation score:

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: September 12, 2018
This is version 140 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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