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    RBM10 RNA binding motif protein 10 [ Homo sapiens (human) ]

    Gene ID: 8241, updated on 14-Nov-2024

    Summary

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    Official Symbol
    RBM10provided by HGNC
    Official Full Name
    RNA binding motif protein 10provided by HGNC
    Primary source
    HGNC:HGNC:9896
    See related
    Ensembl:ENSG00000182872 MIM:300080; AllianceGenome:HGNC:9896
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    S1-1; TARPS; GPATC9; ZRANB5; GPATCH9; DXS8237E; MINAS-60
    Summary
    This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]
    Expression
    Ubiquitous expression in ovary (RPKM 15.6), spleen (RPKM 12.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RBM10 in Genome Data Viewer
    Location:
    Xp11.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (47145221..47186813)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (46554946..46596509)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47004620..47046212)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373193 Neighboring gene uncharacterized LOC107985720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29581 Neighboring gene RNA, U12 small nuclear 2, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29582 Neighboring gene NADH:ubiquinone oxidoreductase subunit B11 Neighboring gene ITPK1 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:47037923-47039122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:47050393-47050933 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:47053068-47053256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20798 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:47057593-47058792 Neighboring gene ubiquitin like modifier activating enzyme 1 Neighboring gene uncharacterized LOC105373194 Neighboring gene inactivation escape 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29587 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:47078167-47078806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:47087788-47088288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:47088289-47088789 Neighboring gene cyclin dependent kinase 16

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. An RRM-ZnF RNA recognition module targets RBM10 to exonic sequences to promote exon exclusion. Collins KM, et al. Nucleic Acids Res, 2017 Jun 20. PMID 28379442, Free PMC Article
    2. Lycorine upregulates the expression of RMB10, promotes apoptosis and inhibits the proliferation and migration of cervical cancer cells. Li Z, et al. Int J Mol Med, 2022 Dec. PMID 36367172, Free PMC Article
    3. Sequestration of RBM10 in Nuclear Bodies: Targeting Sequences and Biological Significance. Wang LY, et al. Int J Mol Sci, 2021 Sep 29. PMID 34638866, Free PMC Article
    4. RBM10: Structure, functions, and associated diseases. Inoue A. Gene, 2021 May 30. PMID 33515724, Free PMC Article
    5. Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features. Kumps C, et al. Clin Genet, 2021 Mar. PMID 33340101

    See all (220) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RBM10 C761Y mutation induced oncogenic ASPM isoforms and regulated beta-catenin signaling in cholangiocarcinoma.
      Title: RBM10 C761Y mutation induced oncogenic ASPM isoforms and regulated β-catenin signaling in cholangiocarcinoma.
    2. RBM10 regulates the tumorigenic potential of human cancer cells by modulating PPM1B and YBX1 activities.
      Title: RBM10 regulates the tumorigenic potential of human cancer cells by modulating PPM1B and YBX1 activities.
    3. An RBM10 and NF-kappaB interacting host lncRNA promotes JEV replication and neuronal cell death.
      Title: An RBM10 and NF-κB interacting host lncRNA promotes JEV replication and neuronal cell death.
    4. RNA-binding motif protein 10 inactivates c-Myc by partnering with ribosomal proteins uL18 and uL5.
      Title: RNA-binding motif protein 10 inactivates c-Myc by partnering with ribosomal proteins uL18 and uL5.
    5. RBM10 recruits METTL3 to induce N6-methyladenosine-MALAT1-dependent modification, inhibiting the invasion and migration of NSCLC.
      Title: RBM10 recruits METTL3 to induce N6-methyladenosine-MALAT1-dependent modification, inhibiting the invasion and migration of NSCLC.
    6. Lycorine upregulates the expression of RMB10, promotes apoptosis and inhibits the proliferation and migration of cervical cancer cells.
      Title: Lycorine upregulates the expression of RMB10, promotes apoptosis and inhibits the proliferation and migration of cervical cancer cells.
    7. Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
      Title: Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
    8. The role of RBM10 mutations in the development, treatment, and prognosis of lung adenocarcinoma.
      Title: The role of RBM10 mutations in the development, treatment, and prognosis of lung adenocarcinoma.
    9. Sequestration of RBM10 in Nuclear Bodies: Targeting Sequences and Biological Significance.
      Title: Sequestration of RBM10 in Nuclear Bodies: Targeting Sequences and Biological Significance.
    10. Star-PAP RNA Binding Landscape Reveals Novel Role of Star-PAP in mRNA Metabolism That Requires RBM10-RNA Association.
      Title: Star-PAP RNA Binding Landscape Reveals Novel Role of Star-PAP in mRNA Metabolism That Requires RBM10-RNA Association.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    TARP syndrome
    MedGen: C1839463 OMIM: 311900 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of RNA binding motif protein 10 (RBM10) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC997, MGC1132, FLJ40796, KIAA0122

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables miRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 3'-UTR-mediated mRNA stabilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of mRNA splicing, via spliceosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of ribosomal large subunit export from nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of vascular associated smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of vascular associated smooth muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vascular associated smooth muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vascular associated smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    RNA-binding protein 10
    Names
    G-patch domain containing 9
    RNA-binding protein S1-1
    epididymis secretory sperm binding protein
    g patch domain-containing protein 9
    zinc finger RANBP2-type containing 5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012548.1 RefSeqGene

      Range
      4990..46582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001204466.2 → NP_001191395.1  RNA-binding protein 10 isoform 3

      See identical proteins and their annotated locations for NP_001191395.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AK292758, AL513366, AW248804, BX537969, DB183041
      Consensus CDS
      CCDS56600.1
      UniProtKB/TrEMBL
      Q7Z3D7
      Related
      ENSP00000329659.6, ENST00000345781.10
      Conserved Domains (6) summary
      smart00547
      Location:138 → 162
      ZnF_RBZ; Zinc finger domain
      sd00029
      Location:140 → 159
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      cd16167
      Location:487 → 550
      OCRE_RBM10; OCRE domain found in RNA-binding protein 10 (RBM10) and similar proteins
      pfam01585
      Location:781 → 825
      G-patch; G-patch domain
      cd12754
      Location:221 → 307
      RRM2_RBM10; RNA recognition motif 2 (RRM2) found in vertebrate RNA-binding protein 10 (RBM10)
      cl17169
      Location:67 → 134
      RRM_SF; RNA recognition motif (RRM) superfamily

    2. NM_001204467.2 → NP_001191396.1  RNA-binding protein 10 isoform 4

      See identical proteins and their annotated locations for NP_001191396.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses and alternate splice site in the coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AL513366, AW248804, D50912, DB183041
      UniProtKB/TrEMBL
      Q7Z3D7
      Conserved Domains (7) summary
      smart00547
      Location:215 → 239
      ZnF_RBZ; Zinc finger domain
      COG0724
      Location:21 → 232
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12753
      Location:127 → 211
      RRM1_RBM10; RNA recognition motif 1 in vertebrate RNA-binding protein 10 (RBM10)
      cd12754
      Location:298 → 383
      RRM2_RBM10; RNA recognition motif 2 in vertebrate RNA-binding protein 10 (RBM10)
      sd00029
      Location:217 → 236
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      cd16167
      Location:563 → 626
      OCRE_RBM10; OCRE domain found in RNA-binding protein 10 (RBM10) and similar proteins
      pfam01585
      Location:857 → 899
      G-patch; G-patch domain

    3. NM_001204468.2 → NP_001191397.1  RNA-binding protein 10 isoform 5

      See identical proteins and their annotated locations for NP_001191397.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' coding region and initiates translation at an upstream in-frame start codon, compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AL513366, AW248804, BX537969, DB183041
      Consensus CDS
      CCDS75969.1
      UniProtKB/TrEMBL
      Q7Z3D7
      Related
      ENSP00000328848.8, ENST00000329236.8
      Conserved Domains (8) summary
      smart00547
      Location:280 → 304
      ZnF_RBZ; Zinc finger domain
      COG0724
      Location:86 → 297
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12753
      Location:192 → 276
      RRM1_RBM10; RNA recognition motif 1 in vertebrate RNA-binding protein 10 (RBM10)
      cd12754
      Location:363 → 449
      RRM2_RBM10; RNA recognition motif 2 in vertebrate RNA-binding protein 10 (RBM10)
      TIGR01661
      Location:201 → 446
      ELAV_HUD_SF; ELAV/HuD family splicing factor
      sd00025
      Location:282 → 301
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam01585
      Location:923 → 967
      G-patch; G-patch domain
      cd16167
      Location:629 → 692
      OCRE_RBM10; OCRE domain found in RNA-binding protein 10 (RBM10) and similar proteins

    4. NM_005676.5 → NP_005667.2  RNA-binding protein 10 isoform 1

      See identical proteins and their annotated locations for NP_005667.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (1).
      Source sequence(s)
      AW248804, BC008733, DB183041
      Consensus CDS
      CCDS14274.1
      UniProtKB/Swiss-Prot
      A0A0A0MR66, C4AM81, P98175, Q14136, Q5JRR2, Q9BTE4, Q9BTX0, Q9NTB1
      UniProtKB/TrEMBL
      A0A0S2Z4W4, Q7Z3D7
      Related
      ENSP00000366829.3, ENST00000377604.8
      Conserved Domains (7) summary
      smart00547
      Location:215 → 239
      ZnF_RBZ; Zinc finger domain
      COG0724
      Location:21 → 232
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      sd00029
      Location:217 → 236
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      cd16167
      Location:564 → 627
      OCRE_RBM10; OCRE domain found in RNA-binding protein 10 (RBM10) and similar proteins
      pfam01585
      Location:858 → 902
      G-patch; G-patch domain
      cd12753
      Location:128 → 211
      RRM1_RBM10; RNA recognition motif 1 (RRM1) found in vertebrate RNA-binding protein 10 (RBM10)
      cd12754
      Location:298 → 384
      RRM2_RBM10; RNA recognition motif 2 (RRM2) found in vertebrate RNA-binding protein 10 (RBM10)

    5. NM_152856.3 → NP_690595.1  RNA-binding protein 10 isoform 2

      See identical proteins and their annotated locations for NP_690595.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon and uses and alternate splice site in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      BC003089, DB183041
      Consensus CDS
      CCDS78478.1
      UniProtKB/TrEMBL
      A0A0S2Z4X1, Q7Z3D7
      Related
      ENSP00000486115.1, ENST00000628161.2
      Conserved Domains (6) summary
      smart00547
      Location:138 → 162
      ZnF_RBZ; Zinc finger domain
      sd00029
      Location:140 → 159
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      cd16167
      Location:486 → 549
      OCRE_RBM10; OCRE domain found in RNA-binding protein 10 (RBM10) and similar proteins
      pfam01585
      Location:780 → 824
      G-patch; G-patch domain
      cd12754
      Location:221 → 306
      RRM2_RBM10; RNA recognition motif 2 (RRM2) found in vertebrate RNA-binding protein 10 (RBM10)
      cl17169
      Location:67 → 134
      RRM_SF; RNA recognition motif (RRM) superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      47145221..47186813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272677.5 → XP_005272734.1  RNA-binding protein 10 isoform X1

      UniProtKB/TrEMBL
      Q7Z3D7
      Conserved Domains (7) summary
      smart00547
      Location:280 → 304
      ZnF_RBZ; Zinc finger domain
      COG0724
      Location:86 → 297
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12753
      Location:192 → 276
      RRM1_RBM10; RNA recognition motif 1 in vertebrate RNA-binding protein 10 (RBM10)
      cd12754
      Location:363 → 448
      RRM2_RBM10; RNA recognition motif 2 in vertebrate RNA-binding protein 10 (RBM10)
      sd00025
      Location:282 → 301
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam01585
      Location:922 → 966
      G-patch; G-patch domain
      cd16167
      Location:628 → 691
      OCRE_RBM10; OCRE domain found in RNA-binding protein 10 (RBM10) and similar proteins

    2. XM_047442551.1 → XP_047298507.1  RNA-binding protein 10 isoform X4

    3. XM_005272678.5 → XP_005272735.1  RNA-binding protein 10 isoform X2

      UniProtKB/TrEMBL
      Q7Z3D7
      Conserved Domains (7) summary
      smart00547
      Location:203 → 227
      ZnF_RBZ; Zinc finger domain
      COG0724
      Location:276 → 381
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12754
      Location:286 → 372
      RRM2_RBM10; RNA recognition motif 2 in vertebrate RNA-binding protein 10 (RBM10)
      sd00025
      Location:205 → 224
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam01585
      Location:846 → 890
      G-patch; G-patch domain
      cd16167
      Location:552 → 615
      OCRE_RBM10; OCRE domain found in RNA-binding protein 10 (RBM10) and similar proteins
      cl17169
      Location:132 → 199
      RRM_SF; RNA recognition motif (RRM) superfamily

    4. XM_005272679.5 → XP_005272736.1  RNA-binding protein 10 isoform X3

      UniProtKB/TrEMBL
      Q7Z3D7
      Conserved Domains (7) summary
      smart00547
      Location:203 → 227
      ZnF_RBZ; Zinc finger domain
      COG0724
      Location:276 → 380
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12754
      Location:286 → 371
      RRM2_RBM10; RNA recognition motif 2 in vertebrate RNA-binding protein 10 (RBM10)
      sd00025
      Location:205 → 224
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam01585
      Location:845 → 889
      G-patch; G-patch domain
      cd16167
      Location:551 → 614
      OCRE_RBM10; OCRE domain found in RNA-binding protein 10 (RBM10) and similar proteins
      cl17169
      Location:132 → 199
      RRM_SF; RNA recognition motif (RRM) superfamily

    5. XM_047442554.1 → XP_047298510.1  RNA-binding protein 10 isoform X7

    6. XM_047442552.1 → XP_047298508.1  RNA-binding protein 10 isoform X5

    7. XM_047442555.1 → XP_047298511.1  RNA-binding protein 10 isoform X8

    8. XM_047442553.1 → XP_047298509.1  RNA-binding protein 10 isoform X6

    9. XM_047442556.1 → XP_047298512.1  RNA-binding protein 10 isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      46554946..46596509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327935.1 → XP_054183910.1  RNA-binding protein 10 isoform X1

    2. XM_054327938.1 → XP_054183913.1  RNA-binding protein 10 isoform X4

    3. XM_054327936.1 → XP_054183911.1  RNA-binding protein 10 isoform X2

    4. XM_054327937.1 → XP_054183912.1  RNA-binding protein 10 isoform X3

    5. XM_054327941.1 → XP_054183916.1  RNA-binding protein 10 isoform X7

    6. XM_054327939.1 → XP_054183914.1  RNA-binding protein 10 isoform X5

    7. XM_054327942.1 → XP_054183917.1  RNA-binding protein 10 isoform X8

    8. XM_054327940.1 → XP_054183915.1  RNA-binding protein 10 isoform X6

    9. XM_054327943.1 → XP_054183918.1  RNA-binding protein 10 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DW28.1 GenPept UniProtKB/Swiss-Prot:P0DW28
    P98175.3 GenPept UniProtKB/Swiss-Prot:P98175

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