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

Summary

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

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
Sequestration of RBM10 in Nuclear Bodies: Targeting Sequences and Biological Significance.
Title: Sequestration of RBM10 in Nuclear Bodies: Targeting Sequences and Biological Significance.
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

G26316 (e-PCR)
- UniSTS:16184

sWXD3383 (e-PCR)
- UniSTS:99193

AFM206zf2 (e-PCR)
- UniSTS:31633

D10Bir5 (e-PCR), detects polymorphism
- UniSTS:141485

DXS7015E (e-PCR)
- UniSTS:21974

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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

NG_012548.1 RefSeqGene

Range

4990..46582

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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)
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

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

47145221..47186813

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q7Z3D7
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
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
XM_047442554.1 → XP_047298510.1 RNA-binding protein 10 isoform X7
XM_047442552.1 → XP_047298508.1 RNA-binding protein 10 isoform X5
XM_047442555.1 → XP_047298511.1 RNA-binding protein 10 isoform X8
XM_047442553.1 → XP_047298509.1 RNA-binding protein 10 isoform X6
XM_047442556.1 → XP_047298512.1 RNA-binding protein 10 isoform X9

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

46554946..46596509

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q7Z3D7
XM_054327938.1 → XP_054183913.1 RNA-binding protein 10 isoform X4

UniProtKB/TrEMBL

Q7Z3D7
XM_054327936.1 → XP_054183911.1 RNA-binding protein 10 isoform X2

UniProtKB/TrEMBL

Q7Z3D7
XM_054327937.1 → XP_054183912.1 RNA-binding protein 10 isoform X3

UniProtKB/TrEMBL

Q7Z3D7
XM_054327941.1 → XP_054183916.1 RNA-binding protein 10 isoform X7
XM_054327939.1 → XP_054183914.1 RNA-binding protein 10 isoform X5
XM_054327942.1 → XP_054183917.1 RNA-binding protein 10 isoform X8
XM_054327940.1 → XP_054183915.1 RNA-binding protein 10 isoform X6
XM_054327943.1 → XP_054183918.1 RNA-binding protein 10 isoform X9