NUP188 - nucleoporin 188 Gene

Homo sapiens

Also known as hNup188; KIAA0169; SANDSTEF

Gene ID: 23511 | Gene type: protein coding

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	Reference	Source
involved in protein import into nucleus	IMP IMP: Inferred from mutant phenotype	32275884	GOA

Cellular Component GO Annotation	Evidence	Reference	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

Bioactive Molecules (1)

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

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