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Q5RL73

- RBM48_HUMAN

UniProt

Q5RL73 - RBM48_HUMAN

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Protein

RNA-binding protein 48

Gene

RBM48

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. RNA binding Source: UniProtKB-KW
Complete GO annotation...

Keywords - Ligandi

RNA-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
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:21785. RBM48.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: HPA
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164717383.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 367367RNA-binding protein 48PRO_0000321514Add
BLAST

Proteomic databases

MaxQBiQ5RL73.
PaxDbiQ5RL73.
PRIDEiQ5RL73.

PTM databases

PhosphoSiteiQ5RL73.

Expressioni

Gene expression databases

BgeeiQ5RL73.
CleanExiHS_C7orf64.
ExpressionAtlasiQ5RL73. baseline and differential.
GenevestigatoriQ5RL73.

Organism-specific databases

HPAiHPA021777.
HPA025306.

Interactioni

Protein-protein interaction databases

BioGridi123855. 48 interactions.
IntActiQ5RL73. 48 interactions.
MINTiMINT-3979239.

Structurei

3D structure databases

ProteinModelPortaliQ5RL73.
SMRiQ5RL73. Positions 43-123.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini46 – 12479RRMAdd
BLAST

Sequence similaritiesi

Belongs to the RBM48 family.Curated

Phylogenomic databases

eggNOGiNOG150976.
GeneTreeiENSGT00390000004541.
HOGENOMiHOG000082399.
HOVERGENiHBG054270.
InParanoidiQ5RL73.
PhylomeDBiQ5RL73.
TreeFamiTF328457.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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 CAB66554.1 differs from that shown. Reason: Frameshift at position 341.
The sequence AAH33561.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence BAB70806.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence EAL24148.1 differs from that shown. Reason: Erroneous gene model prediction.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti8 – 81L → P in CAB66554. (PubMed:11230166)Curated
Sequence conflicti229 – 2291R → K in BAB70806. (PubMed:14702039)Curated
Sequence conflicti359 – 3591H → R in BAB70806. (PubMed:14702039)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei341 – 36727ISSVP…QRRRI → RLFLKNYSKTRFGYRIKWRI ICGNNSTVIFFHFLVF in isoform 2. 1 PublicationVSP_056683Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_032120.2.
XP_005250693.1. XM_005250636.2.
UniGeneiHs.21590.

Genome annotation databases

EnsembliENST00000265732; ENSP00000265732; ENSG00000127993. [Q5RL73-1]
ENST00000481551; ENSP00000419242; ENSG00000127993. [Q5RL73-2]
ENST00000617438; ENSP00000478040; ENSG00000127993.
GeneIDi84060.
KEGGihsa:84060.
UCSCiuc003ulz.3. human. [Q5RL73-1]

Polymorphism databases

DMDMi74736145.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS43615.1. [Q5RL73-1 ]
RefSeqi NP_115496.2. NM_032120.2.
XP_005250693.1. XM_005250636.2.
UniGenei Hs.21590.

3D structure databases

ProteinModelPortali Q5RL73.
SMRi Q5RL73. Positions 43-123.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123855. 48 interactions.
IntActi Q5RL73. 48 interactions.
MINTi MINT-3979239.

PTM databases

PhosphoSitei Q5RL73.

Polymorphism databases

DMDMi 74736145.

Proteomic databases

MaxQBi Q5RL73.
PaxDbi Q5RL73.
PRIDEi Q5RL73.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265732 ; ENSP00000265732 ; ENSG00000127993 . [Q5RL73-1 ]
ENST00000481551 ; ENSP00000419242 ; ENSG00000127993 . [Q5RL73-2 ]
ENST00000617438 ; ENSP00000478040 ; ENSG00000127993 .
GeneIDi 84060.
KEGGi hsa:84060.
UCSCi uc003ulz.3. human. [Q5RL73-1 ]

Organism-specific databases

CTDi 84060.
GeneCardsi GC07P092159.
HGNCi HGNC:21785. RBM48.
HPAi HPA021777.
HPA025306.
neXtProti NX_Q5RL73.
PharmGKBi PA164717383.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG150976.
GeneTreei ENSGT00390000004541.
HOGENOMi HOG000082399.
HOVERGENi HBG054270.
InParanoidi Q5RL73.
PhylomeDBi Q5RL73.
TreeFami TF328457.

Miscellaneous databases

ChiTaRSi RBM48. human.
GenomeRNAii 84060.
NextBioi 35479023.
PROi Q5RL73.

Gene expression databases

Bgeei Q5RL73.
CleanExi HS_C7orf64.
ExpressionAtlasi Q5RL73. baseline and differential.
Genevestigatori Q5RL73.

Family and domain databases

ProtoNeti Search...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain and Endometrial adenocarcinoma.
  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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 180-367 (ISOFORM 1).
    Tissue: Brain and Cerebellum.
  3. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. 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 1).
    Tissue: Brain, Lung and Testis.

Entry informationi

Entry nameiRBM48_HUMAN
AccessioniPrimary (citable) accession number: Q5RL73
Secondary accession number(s): B7Z2K5
, B7ZL51, Q5H9T2, Q8IYW7, Q96NS0, Q9H0V7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: December 21, 2004
Last modified: October 29, 2014
This is version 90 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

External Data

Dasty 3