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Protein

RNA-binding protein 48

Gene

RBM48

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Caution

GO - Molecular functioni

Keywordsi

Molecular functionRNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
RNA-binding protein 48
Gene namesi
Name:RBM48
Synonyms:C7orf64
ORF Names:HSPC304
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000127993.14
HGNCiHGNC:21785 RBM48
neXtProtiNX_Q5RL73

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000127993
PharmGKBiPA164717383

Polymorphism and mutation databases

BioMutaiRBM48
DMDMi74736145

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003215141 – 367RNA-binding protein 48Add BLAST367

Proteomic databases

MaxQBiQ5RL73
PaxDbiQ5RL73
PeptideAtlasiQ5RL73
PRIDEiQ5RL73

PTM databases

iPTMnetiQ5RL73
PhosphoSitePlusiQ5RL73

Expressioni

Gene expression databases

BgeeiENSG00000127993
CleanExiHS_C7orf64
ExpressionAtlasiQ5RL73 baseline and differential
GenevisibleiQ5RL73 HS

Organism-specific databases

HPAiHPA021777
HPA025306

Interactioni

Protein-protein interaction databases

BioGridi12385550 interactors.
IntActiQ5RL73 49 interactors.
MINTiQ5RL73

Structurei

3D structure databases

ProteinModelPortaliQ5RL73
SMRiQ5RL73
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini46 – 124RRMAdd BLAST79

Sequence similaritiesi

Belongs to the RBM48 family.Curated

Phylogenomic databases

eggNOGiENOG410IFV3 Eukaryota
ENOG4111JBS LUCA
GeneTreeiENSGT00390000004541
HOGENOMiHOG000082399
HOVERGENiHBG054270
InParanoidiQ5RL73
OMAiYLIKFMN
OrthoDBiEOG091G0VIF
PhylomeDBiQ5RL73
TreeFamiTF328457

Family and domain databases

CDDicd12442 RRM_RBM48, 1 hit
InterProiView protein in InterPro
IPR035979 RBD_domain_sf
IPR034264 RBM48_RRM
SUPFAMiSSF54928 SSF54928, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q5RL73-1) [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
MASSGGELGS LFDHHVQRAV CDTRAKYREG RRPRAVKVYT INLESQYLLI
60 70 80 90 100
QGVPAVGVMK ELVERFALYG AIEQYNALDE YPAEDFTEVY LIKFMNLQSA
110 120 130 140 150
RTAKRKMDEQ SFFGGLLHVC YAPEFETVEE TRKKLQMRKA YVVKTTENKD
160 170 180 190 200
HYVTKKKLVT EHKDTEDFRQ DFHSEMSGFC KAALNTSAGN SNPYLPYSCE
210 220 230 240 250
LPLCYFSSKC MCSSGGPVDR APDSSKDGRN HHKTMGHYNH NDSLRKTQIN
260 270 280 290 300
SLKNSVACPG AQKAITSSEA VDRFMPRTTQ LQERKRRRED DRKLGTFLQT
310 320 330 340 350
NPTGNEIMIG PLLPDISKVD MHDDSLNTTA NLIRHKLKEV ISSVPKPPED
360
KPEDVHTSHP LKQRRRI
Length:367
Mass (Da):41,808
Last modified:December 21, 2004 - v1
Checksum:iBD42E7ACCDCE9B96
GO
Isoform 2 (identifier: Q5RL73-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     341-367: ISSVPKPPEDKPEDVHTSHPLKQRRRI → RLFLKNYSKTRFGYRIKWRIICGNNSTVIFFHFLVF

Note: No experimental confirmation available.
Show »
Length:376
Mass (Da):43,147
Checksum:iFE38159A4272BFCA
GO

Sequence cautioni

The sequence AAH33561 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB70806 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAB66554 differs from that shown. Reason: Frameshift at position 341.Curated
The sequence CAI45942 differs from that shown. Reason: Erroneous translation. The protein sequence does not correspond to the translation of the nucleic acid sequence.Curated
The sequence EAL24148 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti8L → P in CAB66554 (PubMed:11230166).Curated1
Sequence conflicti229R → K in BAB70806 (PubMed:14702039).Curated1
Sequence conflicti359H → R in BAB70806 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056683341 – 367ISSVP…QRRRI → RLFLKNYSKTRFGYRIKWRI ICGNNSTVIFFHFLVF in isoform 2. 1 PublicationAdd BLAST27

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136619 mRNA Translation: CAB66554.1 Frameshift.
CR933641 mRNA Translation: CAI45942.1 Sequence problems.
AK054777 mRNA Translation: BAB70806.1 Different initiation.
AK294812 mRNA Translation: BAH11891.1
AC005156 Genomic DNA No translation available.
AC007566 Genomic DNA No translation available.
CH471091 Genomic DNA Translation: EAW76839.1
CH236949 Genomic DNA Translation: EAL24148.1 Sequence problems.
BC033561 mRNA Translation: AAH33561.1 Different initiation.
BC044570 mRNA Translation: AAH44570.1
BC104865 mRNA Translation: AAI04866.1
BC104867 mRNA Translation: AAI04868.1
BC143576 mRNA Translation: AAI43577.1
CCDSiCCDS43615.1 [Q5RL73-1]
RefSeqiNP_115496.2, NM_032120.3 [Q5RL73-1]
XP_005250693.1, XM_005250636.4 [Q5RL73-2]
UniGeneiHs.147829
Hs.21590
Hs.711103

Genome annotation databases

EnsembliENST00000265732; ENSP00000265732; ENSG00000127993 [Q5RL73-1]
ENST00000481551; ENSP00000419242; ENSG00000127993 [Q5RL73-2]
GeneIDi84060
KEGGihsa:84060
UCSCiuc003ulz.4 human [Q5RL73-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiRBM48_HUMAN
AccessioniPrimary (citable) accession number: Q5RL73
Secondary accession number(s): B7Z2K5
, B7ZL51, Q5H9T2, Q8IYW7, Q96NS0, Q9H0V7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: December 21, 2004
Last modified: February 28, 2018
This is version 119 of the entry and version 1 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

Complete proteome, Reference proteome