UniProtKB - Q8NHQ8 (RASF8_HUMAN)
Protein
Ras association domain-containing protein 8
Gene
RASSF8
Organism
Homo sapiens (Human)
Status
Functioni
GO - Biological processi
- adherens junction maintenance Source: InterPro
- signal transduction Source: InterPro
Enzyme and pathway databases
PathwayCommonsi | Q8NHQ8 |
Names & Taxonomyi
Protein namesi | Recommended name: Ras association domain-containing protein 8Alternative name(s): Carcinoma-associated protein HOJ-1 |
Gene namesi | Name:RASSF8 Synonyms:C12orf2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000123094.15 |
HGNCi | HGNC:13232, RASSF8 |
MIMi | 608231, gene |
neXtProti | NX_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
DisGeNETi | 11228 |
MIMi | 608180, phenotype |
OpenTargetsi | ENSG00000123094 |
PharmGKBi | PA25502 |
Miscellaneous databases
Pharosi | Q8NHQ8, Tbio |
Polymorphism and mutation databases
BioMutai | RASSF8 |
DMDMi | 68068057 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000089840 | 1 – 419 | Ras association domain-containing protein 8Add BLAST | 419 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 105 | PhosphoserineCombined sources | 1 | |
Modified residuei | 129 | PhosphoserineCombined sources | 1 | |
Modified residuei | 131 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 387 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8NHQ8 |
jPOSTi | Q8NHQ8 |
MassIVEi | Q8NHQ8 |
MaxQBi | Q8NHQ8 |
PaxDbi | Q8NHQ8 |
PeptideAtlasi | Q8NHQ8 |
PRIDEi | Q8NHQ8 |
ProteomicsDBi | 73739 [Q8NHQ8-1] 73740 [Q8NHQ8-2] |
PTM databases
iPTMneti | Q8NHQ8 |
PhosphoSitePlusi | Q8NHQ8 |
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
Bgeei | ENSG00000123094, Expressed in testis and 215 other tissues |
ExpressionAtlasi | Q8NHQ8, baseline and differential |
Genevisiblei | Q8NHQ8, HS |
Organism-specific databases
HPAi | ENSG00000123094, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsIsoform 2 [Q8NHQ8-2]
Protein-protein interaction databases
BioGRIDi | 116395, 55 interactors |
IntActi | Q8NHQ8, 50 interactors |
MINTi | Q8NHQ8 |
STRINGi | 9606.ENSP00000384491 |
Miscellaneous databases
RNActi | Q8NHQ8, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q8NHQ8 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q8NHQ8 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 1 – 82 | Ras-associatingPROSITE-ProRule annotationAdd BLAST | 82 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 181 – 290 | Glu-richAdd BLAST | 110 |
Phylogenomic databases
eggNOGi | KOG1574, Eukaryota |
GeneTreei | ENSGT00950000182839 |
HOGENOMi | CLU_031151_0_0_1 |
InParanoidi | Q8NHQ8 |
OMAi | LRPQNDK |
PhylomeDBi | Q8NHQ8 |
TreeFami | TF318385 |
Family and domain databases
InterProi | View protein in InterPro IPR033593, N-RASSF IPR000159, RA_dom IPR033632, RASSF8 IPR029071, Ubiquitin-like_domsf |
PANTHERi | PTHR15286, PTHR15286, 1 hit PTHR15286:SF12, PTHR15286:SF12, 1 hit |
Pfami | View protein in Pfam PF00788, RA, 1 hit |
SMARTi | View protein in SMART SM00314, RA, 1 hit |
SUPFAMi | SSF54236, SSF54236, 1 hit |
PROSITEi | View protein in PROSITE PS50200, RA, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8NHQ8-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H0S5 | F5H0S5_HUMAN | Ras association domain-containing p... | RASSF8 | 208 | Annotation score: | ||
F5H7J1 | F5H7J1_HUMAN | Ras association domain-containing p... | RASSF8 | 219 | Annotation score: | ||
H0YG85 | H0YG85_HUMAN | Ras association domain-containing p... | RASSF8 | 208 | Annotation score: | ||
Q6IB99 | Q6IB99_HUMAN | C12orf2 protein | RASSF8 C12orf2 | 109 | Annotation score: | ||
F5GYP8 | F5GYP8_HUMAN | Ras association domain-containing p... | RASSF8 | 122 | Annotation score: | ||
F5H8B9 | F5H8B9_HUMAN | Ras association domain-containing p... | RASSF8 | 91 | Annotation score: | ||
F5H8C5 | F5H8C5_HUMAN | Ras association domain-containing p... | RASSF8 | 159 | Annotation score: | ||
F5H343 | F5H343_HUMAN | Ras association domain-containing p... | RASSF8 | 29 | Annotation score: |
Sequence cautioni
The sequence AAC95425 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 15 | C → Y in BAC98838 (Ref. 1) Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_014248 | 380 – 419 | EAPFQ…EGIYV → GIIILSDKQECKD in isoform 2. 1 PublicationAdd BLAST | 40 |
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. |
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_006719027.2 [Q8NHQ8-1] XP_006719091.1, XM_006719028.1 [Q8NHQ8-1] XP_016874235.1, XM_017018746.1 [Q8NHQ8-1] |
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.4, human [Q8NHQ8-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangementSimilar proteinsi
Cross-referencesi
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. |
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_006719027.2 [Q8NHQ8-1] XP_006719091.1, XM_006719028.1 [Q8NHQ8-1] XP_016874235.1, XM_017018746.1 [Q8NHQ8-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2CS4 | NMR | - | A | 1-82 | [»] | |
SMRi | Q8NHQ8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 116395, 55 interactors |
IntActi | Q8NHQ8, 50 interactors |
MINTi | Q8NHQ8 |
STRINGi | 9606.ENSP00000384491 |
PTM databases
iPTMneti | Q8NHQ8 |
PhosphoSitePlusi | Q8NHQ8 |
Polymorphism and mutation databases
BioMutai | RASSF8 |
DMDMi | 68068057 |
Proteomic databases
EPDi | Q8NHQ8 |
jPOSTi | Q8NHQ8 |
MassIVEi | Q8NHQ8 |
MaxQBi | Q8NHQ8 |
PaxDbi | Q8NHQ8 |
PeptideAtlasi | Q8NHQ8 |
PRIDEi | Q8NHQ8 |
ProteomicsDBi | 73739 [Q8NHQ8-1] 73740 [Q8NHQ8-2] |
Protocols and materials databases
Antibodypediai | 24278, 348 antibodies |
DNASUi | 11228 |
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.4, human [Q8NHQ8-1] |
Organism-specific databases
CTDi | 11228 |
DisGeNETi | 11228 |
EuPathDBi | HostDB:ENSG00000123094.15 |
GeneCardsi | RASSF8 |
HGNCi | HGNC:13232, RASSF8 |
HPAi | ENSG00000123094, Low tissue specificity |
MIMi | 608180, phenotype 608231, gene |
neXtProti | NX_Q8NHQ8 |
OpenTargetsi | ENSG00000123094 |
PharmGKBi | PA25502 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1574, Eukaryota |
GeneTreei | ENSGT00950000182839 |
HOGENOMi | CLU_031151_0_0_1 |
InParanoidi | Q8NHQ8 |
OMAi | LRPQNDK |
PhylomeDBi | Q8NHQ8 |
TreeFami | TF318385 |
Enzyme and pathway databases
PathwayCommonsi | Q8NHQ8 |
Miscellaneous databases
BioGRID-ORCSi | 11228, 7 hits in 843 CRISPR screens |
ChiTaRSi | RASSF8, human |
EvolutionaryTracei | Q8NHQ8 |
GeneWikii | RASSF8 |
GenomeRNAii | 11228 |
Pharosi | Q8NHQ8, Tbio |
PROi | PR:Q8NHQ8 |
RNActi | Q8NHQ8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000123094, Expressed in testis and 215 other tissues |
ExpressionAtlasi | Q8NHQ8, baseline and differential |
Genevisiblei | Q8NHQ8, HS |
Family and domain databases
InterProi | View protein in InterPro IPR033593, N-RASSF IPR000159, RA_dom IPR033632, RASSF8 IPR029071, Ubiquitin-like_domsf |
PANTHERi | PTHR15286, PTHR15286, 1 hit PTHR15286:SF12, PTHR15286:SF12, 1 hit |
Pfami | View protein in Pfam PF00788, RA, 1 hit |
SMARTi | View protein in SMART SM00314, RA, 1 hit |
SUPFAMi | SSF54236, SSF54236, 1 hit |
PROSITEi | View protein in PROSITE PS50200, RA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RASF8_HUMAN | |
Accessioni | Q8NHQ8Primary (citable) accession number: Q8NHQ8 Secondary accession number(s): A8K1Z0 Q76KB6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 9, 2003 |
Last sequence update: | June 21, 2005 | |
Last modified: | December 2, 2020 | |
This is version 155 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM