Q8NHQ8 (RASF8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ras association domain-containing protein 8

Alternative name(s):
Carcinoma-associated protein HOJ-1

Gene names

Name:	RASSF8
Synonyms:	C12orf2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	419 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing Chromosomal rearrangement
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	signal 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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 419

419

Ras association domain-containing protein 8

PRO_0000089840

Regions

Domain

1 – 82

82

Ras-associating

Compositional bias

181 – 290

110

Glu-rich

Amino acid modifications

Modified residue

83

1

Phosphoserine By similarity

Modified residue

85

1

Phosphoserine By similarity

Modified residue

105

1

Phosphoserine Ref.9

Natural variations

Alternative sequence

380 – 419

40

EAPFQ…EGIYV → GIIILSDKQECKD in isoform 2.

VSP_014248

Experimental info

Sequence conflict

15

1

C → Y in BAC98838. Ref.1

Secondary structure

1

.

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419

Helix Strand Turn

Details...

Beta strand

5 – 7

3

Beta strand

10 – 12

3

Beta strand

15 – 17

3

Beta strand

19 – 21

3

Helix

23 – 34

12

Beta strand

38 – 46

9

Beta strand

49 – 52

4

Beta strand

55 – 57

3

Helix

59 – 64

6

Helix

67 – 69

3

Beta strand

74 – 81

8

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 21, 2005. Version 2. Checksum: 409223F6BE1C204A	FASTA	419	48,327
	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
	Isoform 2 [UniParc]. Checksum: ADA799FFB41733AE	FASTA	392	45,446
	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 TVLPAEPIEI EASHADIERG IIILSDKQEC KD

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, MASS SPECTROMETRY. 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.

IPI

IPI00169294.
IPI00607715.

RefSeq

NP_001158218.1. NM_001164746.1.
NP_001158219.1. NM_001164747.1.
NP_001158220.1. NM_001164748.1.
NP_009142.2. NM_007211.4.

UniGene

Hs.696433.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2CS4	NMR	-	A	1-82	[»]

ProteinModelPortal

Q8NHQ8.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q8NHQ8. 4 interactions.

MINT

MINT-1445675.

STRING

9606.ENSP00000282884.

PTM databases

PhosphoSite

Q8NHQ8.

Polymorphism databases

DMDM

68068057.

Proteomic databases

PaxDb

Q8NHQ8.

PRIDE

Q8NHQ8.

Protocols and materials databases

DNASU

11228.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000282884; ENSP00000282884; ENSG00000123094.
ENST00000381352; ENSP00000370756; ENSG00000123094.
ENST00000405154; ENSP00000384491; ENSG00000123094.
ENST00000541490; ENSP00000443096; ENSG00000123094.
ENST00000542865; ENSP00000439839; ENSG00000123094.

GeneID

11228.

KEGG

hsa:11228.

UCSC

uc001rgx.3. human.
uc001rgz.3. human.

Organism-specific databases

CTD

11228.

GeneCards

GC12P026111.

HGNC

HGNC:13232. RASSF8.

HPA

HPA038164.

MIM

608180. phenotype.
608231. gene.

neXtProt

NX_Q8NHQ8.

PharmGKB

PA25502.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG306245.

HOGENOM

HOG000013031.

HOVERGEN

HBG050971.

InParanoid

Q8NHQ8.

KO

K09855.

OMA

KLRPQND.

Gene expression databases

ArrayExpress

Q8NHQ8.

Bgee

Q8NHQ8.

CleanEx

HS_RASSF8.

Genevestigator

Q8NHQ8.

GermOnline

ENSG00000123094. Homo sapiens.

Family and domain databases

InterPro

IPR000159. Ras-assoc.
[Graphical view]

Pfam

PF00788. RA. 1 hit.
[Graphical view]

SMART

SM00314. RA. 1 hit.
[Graphical view]

PROSITE

PS50200. RA. 1 hit.
PS51070. SHD. False negative.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q8NHQ8.

GenomeRNAi

11228.

NextBio

42734.

SOURCE

Search...

Entry information

Entry name

RASF8_HUMAN

Accession

Primary (citable) accession number: Q8NHQ8
Secondary accession number(s): A8K1Z0 , O95647, Q5SCI2, Q76KB6

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 9, 2003
Last sequence update:	June 21, 2005
Last modified:	May 1, 2013
This is version 95 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.