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NUP188 - nucleoporin 188 Gene

Also Known as hNup188; KIAA0169; SANDSTEF

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23511

About NUP188

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:128,947,699-129,007,096 (from NCBI)

This gene has 11 transcripts (splice variants), 201 orthologues and is associated with 1 phenotype. Broad expression in testis (RPKM 47.7), skin (RPKM 10.9) and 23 other tissues.

Summary

The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]

NUP188 Products (1)

mRNA	Protein	Name
NM_015354.3	NP_056169.1	nucleoporin NUP188

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in protein import into nucleus	IMP IMP: Inferred from mutant phenotype	32275884	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nuclear envelope	IDA IDA: Inferred from direct assay	24315095	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

NUP188 Protein Structure

Nup188

0
300
600
900
1200
1500
1749 a.a.

Protein Preferred Names	Protein Names
nucleoporin NUP188	nucleoporin 188kDa

Related Diseases

Diseases	Alias
Sandestig-Stefanova Syndrome	SANDSTEF
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Renpenning Syndrome 1	Renpenning Syndrome Golabi-Ito-Hall Syndrome Mrxs3 Mrxs8 X-Linked Intellectual Disability Due To Pqbp1 Mutations RENS1 Sutherland-Haan X-Linked Mental Retardation Syndrome Shs Mrx55 X-Linked Intellectual Disability, Renpenning Type Sutherland-Haan Syndrome Mental Retardation, X-Linked, Renpenning Type Mental Retardation, X-Linked, With Spastic Diplegia Mental Retardation, X-Linked, Syndromic 3 Mental Retardation, X-Linked, Syndromic 8 Mental Retardation, X-Linked 55 Syndromic X-Linked Mental Retardation 8 X-Linked Mental Retardation Renpenning Type X-Linked Mental Retardation With Spastic Diplegia Sutherland-Haan X-Linked Intellectual Disability Syndrome X-Linked Intellectual Disability With Spastic Diplegia Hamel Cerebropalatocardiac Syndrome Porteous Syndrome X-Linked Intellectual Deficit Due To Pqbp1 Mutations X-Linked Intellectual Deficit, Renpenning Type X-Linked Intellectual Disability, Sutherland-Haan Type Hamel Cerebro-Palato-Cardiac Syndrome Renpenning Syndrome, Type 1
Achalasia-Addisonianism-Alacrima Syndrome	Allgrove Syndrome Triple-A Syndrome Achalasia-Addisonianism-Alacrimia Syndrome Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder Triple A Syndrome Aaa Syndrome AAAS Glucocorticoid Deficiency With Achalasia Glucocorticoid Deficiency And Achalasia Addisonian-Achalasia Syndrome Hypoadrenalism With Achalasia Alacrima-Achalasia-Addisonianism Aaa Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima Achalasia Addisonianism Alacrimia Syndrome Achalasia Alacrima Syndrome Addisonian Achalasia Syndrome Achalasia-Addisonian Syndrome Achalasia-Alacrima Syndrome 2a Syndrome 3a Syndrome 4a Syndrome Adrenal Insufficiency-Achalasia-Alacrima Syndrome Double A Syndrome Quaternary A Syndrome Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima Allgrove'S Syndrome Adrenal Gland Hypofunction Adrenal Cortical Hypofunction
Right Atrial Isomerism	Ivemark Syndrome Asplenia With Cardiovascular Anomalies RAI Asplenia Syndrome Asplenia Right Isomerism Splenic Agenesis Syndrome Bilateral Right-Sidedness Sequence Right Sided Atrial Isomerism Isomerism Of Right Atrial Appendage Heterotaxy, Visceroatrial, Autosomal Recessive Polyasplenia Vah, Autosomal Recessive Atrial Isomerism, Right Congenital Absence Of Spleen Bilateral Right-Sidedness
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09688	NUP188 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NUP188	VGNC	VGNC:97798
Bos taurus	NUP188	VGNC	VGNC:32354
Canis familiaris	NUP188	VGNC	VGNC:44048
Mus musculus	NUP188	MGD	MGI:2446190
Felis catus	NUP188	VGNC	VGNC:97542
Rattus norvegicus	NUP188	RGD	RGD:1306022
Others	NUP188	NCBI