RBM28 - RNA binding motif protein 28 Gene

Also Known as ANES

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55131

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	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS11746	RBM28 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	RBM28	NCBI