RBM28 - RNA binding motif protein 28 Gene

Homo sapiens

Also known as ANES

Gene ID: 55131 | Gene type: protein coding

About RBM28

Cytogenetic location: 7q32.1 Genomic coordinates (GRCh38): 7:128,297,685-128,343,908 (from NCBI)

This gene has 8 transcripts (splice variants), 201 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 3.5), skin (RPKM 3.3) and 25 other tissues.

Summary

The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

RBM28 Products(2)

mRNA	Protein	Name
NM_001166135.2	NP_001159607.1	RNA-binding protein 28 isoform 2
NM_018077.3	NP_060547.2	RNA-binding protein 28 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30021884	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RBM28 Protein Structure

RRM_1

0
200
400
600
759 a.a.

Protein Preferred Names

Protein Names

RNA-binding protein 28

2810480G15Rik

RBM28 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RBM28	Q9NW13	NOP2	Homo sapiens	P46087	Anti Tag CoIP	33961781
Intra	RBM28	Q9NW13	NOP2	Homo sapiens	P46087	Crosslink	30021884
Intra	RBM28	Q9NW13	RSL1D1	Homo sapiens	O76021	Crosslink	30021884
Intra	RBM28	Q9NW13	RSL1D1	Homo sapiens	O76021	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Alopecia, Neurologic Defects, And Endocrinopathy Syndrome

Ane Syndrome	ANES
Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome	Alopecia-Progressive Neurological Defect-Endocrinopathy
Endocrine System Diseases

Alopecia

Hypotrichosis 11

HYPT11

Hypotrichosis, Type 11

Bone Leiomyosarcoma

Woodhouse-Sakati Syndrome

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome	Woodhouse Sakati Syndrome
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome	WDSKS
Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia	Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia	Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
Neuroectodermal Endocrine Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
Wss

Tarp Syndrome

TARPS	Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot
Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome	Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome
Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome	Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava
Pierre Robin Sequence - Congenital Heart Defect - Talipes	Pierre Robin Syndrome - Congenital Heart Defect - Talipes
Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava	Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava

Hypotrichosis 8

HYPT8	Lah3
Hypotrichosis, Localized, Autosomal Recessive 3	Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis
Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis	Hypotrichosis Localized Autosomal Recessive 3
Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis	ARWH1
Hypotrichosis, Type 8

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11746	RBM28 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RBM28	RGD	RGD:1311336
Felis catus	RBM28	VGNC	VGNC:80669
Mus musculus	RBM28	MGD	MGI:2655711
Macaca mulatta	RBM28	VGNC	VGNC:76519
Canis familiaris	RBM28	VGNC	VGNC:45417
Bos taurus	RBM28	VGNC	VGNC:33796

Name
Email *

	Sorry, but the email address you supplied was invalid.