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Protein

Putative ribosome-binding factor A, mitochondrial

Gene

RBFA

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

Functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

rRNA processing

Names & Taxonomyi

Protein namesi
Recommended name:
Putative ribosome-binding factor A, mitochondrial
Gene namesi
Name:RBFA
Synonyms:C18orf22
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:26120. RBFA.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134885774.

Polymorphism and mutation databases

BioMutaiRBFA.
DMDMi146334837.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4141MitochondrionSequence analysisAdd
BLAST
Chaini42 – 343302Putative ribosome-binding factor A, mitochondrialPRO_0000030226Add
BLAST

Proteomic databases

EPDiQ8N0V3.
MaxQBiQ8N0V3.
PaxDbiQ8N0V3.
PeptideAtlasiQ8N0V3.
PRIDEiQ8N0V3.

PTM databases

iPTMnetiQ8N0V3.
PhosphoSiteiQ8N0V3.

Expressioni

Gene expression databases

BgeeiQ8N0V3.
CleanExiHS_C18orf22.
GenevisibleiQ8N0V3. HS.

Organism-specific databases

HPAiHPA040485.
HPA041479.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CMTM5Q96DZ93EBI-3232108,EBI-2548702

Protein-protein interaction databases

BioGridi122951. 14 interactions.
IntActiQ8N0V3. 5 interactions.
MINTiMINT-3038713.
STRINGi9606.ENSP00000305696.

Structurei

Secondary structure

1
343
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi88 – 10720Combined sources
Turni111 – 1133Combined sources
Helixi115 – 1206Combined sources
Beta strandi124 – 1296Combined sources
Beta strandi136 – 1405Combined sources
Helixi146 – 15813Combined sources
Helixi160 – 1689Combined sources
Beta strandi179 – 1835Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2E7GNMR-A86-201[»]
ProteinModelPortaliQ8N0V3.
SMRiQ8N0V3. Positions 80-204.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8N0V3.

Family & Domainsi

Sequence similaritiesi

Belongs to the RbfA family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG4700. Eukaryota.
ENOG4111QCT. LUCA.
GeneTreeiENSGT00390000011362.
HOVERGENiHBG059992.
InParanoidiQ8N0V3.
OMAiTTQMKKG.
OrthoDBiEOG700896.
PhylomeDBiQ8N0V3.
TreeFamiTF328637.

Family and domain databases

Gene3Di3.30.300.20. 1 hit.
InterProiIPR015946. KH_dom-like_a/b.
IPR000238. Ribosome-bd_facA.
IPR023799. Ribosome-bd_facA_dom.
IPR020053. Ribosome-bd_factorA_CS.
[Graphical view]
PfamiPF02033. RBFA. 1 hit.
[Graphical view]
SUPFAMiSSF89919. SSF89919. 1 hit.
PROSITEiPS01319. RBFA. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: Q8N0V3-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MWAAAGGLWR SRAGLRALFR SRDAALFPGC ERGLHCSAVS CKNWLKKFAS
60 70 80 90 100
KTKKKVWYES PSLGSHSTYK PSKLEFLMRS TSKKTRKEDH ARLRALNGLL
110 120 130 140 150
YKALTDLLCT PEVSQELYDL NVELSKVSLT PDFSACRAYW KTTLSAEQNA
160 170 180 190 200
HMEAVLQRSA AHMRHLLMSQ QTLRNVPPIV FVQDKGNAAL AELDQLLAVA
210 220 230 240 250
DFGPRDERDN FVQNDFRDPD APQPCGTTEP TTSSSLCGID HEALNKQIME
260 270 280 290 300
YKRRKDKGLG GLVWQGQVAE LTTQMKKGRK RAKPRLEQDS SLKSYLSGEE
310 320 330 340
VEDDLDLVGA PEYECYAPDT EELEAERGGG RTEDGHSCGA SRE
Length:343
Mass (Da):38,359
Last modified:March 6, 2007 - v3
Checksum:iE8BE374855BEF403
GO
Isoform 2 (identifier: Q8N0V3-2) [UniParc]FASTAAdd to basket

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.

Show »
Length:242
Mass (Da):27,062
Checksum:i4918C96F48B5CF45
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti326 – 3261E → G in AAM20740 (Ref. 1) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti122 – 1221V → M.
Corresponds to variant rs748338 [ dbSNP | Ensembl ].
VAR_023233
Natural varianti245 – 2451N → H.1 Publication
Corresponds to variant rs3744872 [ dbSNP | Ensembl ].
VAR_023234
Natural varianti276 – 2761K → Q.2 Publications
Corresponds to variant rs3744873 [ dbSNP | Ensembl ].
VAR_023235

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei164 – 24279RHLLM…GIDHE → SLISYWQSQTLDPGMKETTL YKMISGTLMPHNPAAPQSRP QAPVCVGSIMRRSTSRLWST KGGKIKGSGAWCGRGRWLS in isoform 2. 1 PublicationVSP_015118Add
BLAST
Alternative sequencei243 – 343101Missing in isoform 2. 1 PublicationVSP_015119Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS12021.1. [Q8N0V3-1]
CCDS54194.1. [Q8N0V3-2]
RefSeqiNP_001165438.1. NM_001171967.1. [Q8N0V3-2]
NP_079081.2. NM_024805.2. [Q8N0V3-1]
UniGeneiHs.728931.

Genome annotation databases

EnsembliENST00000262197; ENSP00000262197; ENSG00000101546. [Q8N0V3-2]
ENST00000306735; ENSP00000305696; ENSG00000101546. [Q8N0V3-1]
GeneIDi79863.
KEGGihsa:79863.
UCSCiuc002lns.4. human. [Q8N0V3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS12021.1. [Q8N0V3-1]
CCDS54194.1. [Q8N0V3-2]
RefSeqiNP_001165438.1. NM_001171967.1. [Q8N0V3-2]
NP_079081.2. NM_024805.2. [Q8N0V3-1]
UniGeneiHs.728931.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2E7GNMR-A86-201[»]
ProteinModelPortaliQ8N0V3.
SMRiQ8N0V3. Positions 80-204.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122951. 14 interactions.
IntActiQ8N0V3. 5 interactions.
MINTiMINT-3038713.
STRINGi9606.ENSP00000305696.

PTM databases

iPTMnetiQ8N0V3.
PhosphoSiteiQ8N0V3.

Polymorphism and mutation databases

BioMutaiRBFA.
DMDMi146334837.

Proteomic databases

EPDiQ8N0V3.
MaxQBiQ8N0V3.
PaxDbiQ8N0V3.
PeptideAtlasiQ8N0V3.
PRIDEiQ8N0V3.

Protocols and materials databases

DNASUi79863.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262197; ENSP00000262197; ENSG00000101546. [Q8N0V3-2]
ENST00000306735; ENSP00000305696; ENSG00000101546. [Q8N0V3-1]
GeneIDi79863.
KEGGihsa:79863.
UCSCiuc002lns.4. human. [Q8N0V3-1]

Organism-specific databases

CTDi79863.
GeneCardsiRBFA.
HGNCiHGNC:26120. RBFA.
HPAiHPA040485.
HPA041479.
neXtProtiNX_Q8N0V3.
PharmGKBiPA134885774.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4700. Eukaryota.
ENOG4111QCT. LUCA.
GeneTreeiENSGT00390000011362.
HOVERGENiHBG059992.
InParanoidiQ8N0V3.
OMAiTTQMKKG.
OrthoDBiEOG700896.
PhylomeDBiQ8N0V3.
TreeFamiTF328637.

Miscellaneous databases

ChiTaRSiRBFA. human.
EvolutionaryTraceiQ8N0V3.
GenomeRNAii79863.
PROiQ8N0V3.

Gene expression databases

BgeeiQ8N0V3.
CleanExiHS_C18orf22.
GenevisibleiQ8N0V3. HS.

Family and domain databases

Gene3Di3.30.300.20. 1 hit.
InterProiIPR015946. KH_dom-like_a/b.
IPR000238. Ribosome-bd_facA.
IPR023799. Ribosome-bd_facA_dom.
IPR020053. Ribosome-bd_factorA_CS.
[Graphical view]
PfamiPF02033. RBFA. 1 hit.
[Graphical view]
SUPFAMiSSF89919. SSF89919. 1 hit.
PROSITEiPS01319. RBFA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS HIS-245 AND GLN-276.
    Tissue: Lung and Placenta.
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. "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.

Entry informationi

Entry nameiRBFA_HUMAN
AccessioniPrimary (citable) accession number: Q8N0V3
Secondary accession number(s): Q6PF07, Q8WZ65, Q9H776
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: March 6, 2007
Last modified: July 6, 2016
This is version 110 of the entry and version 3 of the sequence. [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 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.