Q8N0V3 (RBFA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Putative ribosome-binding factor A, mitochondrial

Gene names

Name:	RBFA
Synonyms:	C18orf22

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	343 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Mitochondrion Potential.
Sequence similarities	Belongs to the RbfA family.

Ontologies

Keywords
Biological process	rRNA processing
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transit peptide
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	rRNA processing Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N0V3-1)

Also known as: p38;

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: Q8N0V3-2)

Also known as: p27;

The sequence of this isoform differs from the canonical sequence as follows:
     164-242: RHLLMSQQTL...SSSLCGIDHE → SLISYWQSQT...AWCGRGRWLS
     243-343: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Transit peptide

1 – 41

41

Mitochondrion Potential

Chain

42 – 343

302

Putative ribosome-binding factor A, mitochondrial

PRO_0000030226

Natural variations

Alternative sequence

164 – 242

79

RHLLM…GIDHE → SLISYWQSQTLDPGMKETTL YKMISGTLMPHNPAAPQSRP QAPVCVGSIMRRSTSRLWST KGGKIKGSGAWCGRGRWLS in isoform 2.

VSP_015118

Alternative sequence

243 – 343

101

Missing in isoform 2.

VSP_015119

Natural variant

122

1

V → M.
Corresponds to variant rs748338 [ dbSNP | Ensembl ].

VAR_023233

Natural variant

245

1

N → H. Ref.3
Corresponds to variant rs3744872 [ dbSNP | Ensembl ].

VAR_023234

Natural variant

276

1

K → Q. Ref.2 Ref.3
Corresponds to variant rs3744873 [ dbSNP | Ensembl ].

VAR_023235

Experimental info

Sequence conflict

326

1

E → G in AAM20740. Ref.1

Secondary structure

1

.

.

.

.

.

.

.

.

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.

.

.

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.

.

.

.

343

Helix Strand Turn

Details...

Helix

88 – 107

20

Turn

111 – 113

3

Helix

115 – 120

6

Beta strand

124 – 129

6

Beta strand

136 – 140

5

Helix

146 – 158

13

Helix

160 – 168

9

Beta strand

179 – 183

5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (p38) [UniParc]. Last modified March 6, 2007. Version 3. Checksum: E8BE374855BEF403	FASTA	343	38,359
	10 20 30 40 50 60 MWAAAGGLWR SRAGLRALFR SRDAALFPGC ERGLHCSAVS CKNWLKKFAS KTKKKVWYES 70 80 90 100 110 120 PSLGSHSTYK PSKLEFLMRS TSKKTRKEDH ARLRALNGLL YKALTDLLCT PEVSQELYDL 130 140 150 160 170 180 NVELSKVSLT PDFSACRAYW KTTLSAEQNA HMEAVLQRSA AHMRHLLMSQ QTLRNVPPIV 190 200 210 220 230 240 FVQDKGNAAL AELDQLLAVA DFGPRDERDN FVQNDFRDPD APQPCGTTEP TTSSSLCGID 250 260 270 280 290 300 HEALNKQIME YKRRKDKGLG GLVWQGQVAE LTTQMKKGRK RAKPRLEQDS SLKSYLSGEE 310 320 330 340 VEDDLDLVGA PEYECYAPDT EELEAERGGG RTEDGHSCGA SRE
	Isoform 2 (p27) [UniParc]. Checksum: 4918C96F48B5CF45	FASTA	242	27,062
	10 20 30 40 50 60 MWAAAGGLWR SRAGLRALFR SRDAALFPGC ERGLHCSAVS CKNWLKKFAS KTKKKVWYES 70 80 90 100 110 120 PSLGSHSTYK PSKLEFLMRS TSKKTRKEDH ARLRALNGLL YKALTDLLCT PEVSQELYDL 130 140 150 160 170 180 NVELSKVSLT PDFSACRAYW KTTLSAEQNA HMEAVLQRSA AHMSLISYWQ SQTLDPGMKE 190 200 210 220 230 240 TTLYKMISGT LMPHNPAAPQ SRPQAPVCVG SIMRRSTSRL WSTKGGKIKG SGAWCGRGRW LS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel human gene that shares homology with the hypothetical protein FLJ21172." Wang C., Steiner M.S., Li Y., Frankel B.M. Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[2]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLN-276.
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS HIS-245 AND GLN-276. Tissue: Lung and Placenta.
[4]	"Solution structure of putative ribosome-binding factor A (RBFA) from human mitochondrial precursor." RIKEN structural genomics initiative (RSGI) Submitted (JUL-2007) to the PDB data bank Cited for: STRUCTURE BY NMR OF 80-163.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF261073 mRNA. Translation: AAM20740.1.
AF439745 mRNA. Translation: AAL32051.1.
AK024825 mRNA. Translation: BAB15022.1.
BC014195 mRNA. Translation: AAH14195.1.
BC057772 mRNA. Translation: AAH57772.1.

IPI

IPI00103853.
IPI00645897.

RefSeq

NP_001165438.1. NM_001171967.1.
NP_079081.2. NM_024805.2.

UniGene

Hs.728931.
Hs.729952.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2E7G	NMR	-	A	86-201	[»]

ProteinModelPortal

Q8N0V3.

SMR

Q8N0V3. Positions 80-204.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q8N0V3. 2 interactions.

PTM databases

PhosphoSite

Q8N0V3.

Polymorphism databases

DMDM

146334837.

Proteomic databases

PRIDE

Q8N0V3.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000306735; ENSP00000305696; ENSG00000101546.

GeneID

79863.

KEGG

hsa:79863.

NMPDR

fig|9606.3.peg.15192.

UCSC

uc002lns.1. human.
uc010drh.1. human.

Organism-specific databases

CTD

79863.

GeneCards

GC18P077795.

HGNC

HGNC:26120. RBFA.

HPA

HPA040485.
HPA041479.

neXtProt

NX_Q8N0V3.

PharmGKB

PA134885774.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG17156.

GeneTree

ENSGT00390000011362.

HOGENOM

HBG444454.

HOVERGEN

HBG059992.

InParanoid

Q8N0V3.

OMA

FGPRDER.

OrthoDB

EOG4V171S.

PhylomeDB

Q8N0V3.

Gene expression databases

ArrayExpress

Q8N0V3.

Bgee

Q8N0V3.

CleanEx

HS_C18orf22.

Genevestigator

Q8N0V3.

GermOnline

ENSG00000101546. Homo sapiens.

Family and domain databases

InterPro

IPR015946. KH_dom-like_a/b.
IPR000238. Ribosome-bd_facA.
IPR023799. Ribosome-bd_facA_dom.
IPR020053. Ribosome-bd_factorA_CS.
[Graphical view]

Gene3D

G3DSA:3.30.300.20. KH_prok. 1 hit.

Pfam

PF02033. RBFA. 1 hit.
[Graphical view]

SUPFAM

SSF89919. Rib_bd_factA. 1 hit.

PROSITE

PS01319. RBFA. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

69600.

Entry information

Entry name

RBFA_HUMAN

Accession

Primary (citable) accession number: Q8N0V3
Secondary accession number(s): Q6PF07, Q8WZ65, Q9H776

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2005
Last sequence update:	March 6, 2007
Last modified:	December 14, 2011
This is version 75 of the entry and version 3 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.