IER3IP1 - immediate early response 3 interacting protein 1 Gene

Also Known as MEDS; HSPC039; PRO2309

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51124

About IER3IP1

Cytogenetic location: 18q21.1 Genomic coordinates (GRCh38): 18:47,152,834-47,176,364 (from NCBI)

This gene has 2 transcripts (splice variants), 236 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 41.1), thyroid (RPKM 27.9) and 25 other tissues.

Summary

This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and Apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011]

IER3IP1 Products (1)

mRNA	Protein	Name
NM_016097.5	NP_057181.1	immediate early response 3-interacting protein 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in brain development	IDA IDA: Inferred from direct assay	33122427	GOA
involved in organ growth	IDA IDA: Inferred from direct assay	33122427	GOA
involved in positive regulation of extracellular matrix constituent secretion	IMP IMP: Inferred from mutant phenotype	33122427	GOA
involved in positive regulation of protein secretion	IMP IMP: Inferred from mutant phenotype	33122427	GOA
involved in regulation of fibroblast apoptotic process	IMP IMP: Inferred from mutant phenotype	21835305	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15276200	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

IER3IP1 Protein Structure

Yos1

0
82 a.a.

Protein Preferred Names	Protein Names
immediate early response 3-interacting protein 1

IER3IP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	IER3IP1	Q9Y5U9	JAGN1	Homo sapiens	Q8N5M9	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	JAGN1	Homo sapiens	Q8N5M9	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	CERS2	Homo sapiens	Q96G23	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	CERS2	Homo sapiens	Q96G23	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	DPM3	Homo sapiens	Q9P2X0-2	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	DPM3	Homo sapiens	Q9P2X0-2	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	TMEM237	Homo sapiens	Q96Q45-2	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	TMEM237	Homo sapiens	Q96Q45-2	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	POMK	Homo sapiens	Q9H5K3	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	POMK	Homo sapiens	Q9H5K3	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	TMEM80	Homo sapiens	Q96HE8	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	TMEM80	Homo sapiens	Q96HE8	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	TMEM258	Homo sapiens	P61165	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	TMEM258	Homo sapiens	P61165	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	PLP1	Homo sapiens	P60201-2	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	PLP1	Homo sapiens	P60201-2	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	TM4SF18	Homo sapiens	Q96CE8	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	TM4SF18	Homo sapiens	Q96CE8	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	SLC30A4	Homo sapiens	O14863	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	SLC30A4	Homo sapiens	O14863	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	SCN3B	Homo sapiens	Q9NY72	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	SCN3B	Homo sapiens	Q9NY72	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	GJB1	Homo sapiens	P08034	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	GJB1	Homo sapiens	P08034	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	PIGP	Homo sapiens	P57054	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	PIGP	Homo sapiens	P57054	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	TRHR	Homo sapiens	P34981	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	TRHR	Homo sapiens	P34981	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	GPR42	Homo sapiens	O15529	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	GPR42	Homo sapiens	O15529	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	C19orf18	Homo sapiens	Q8NEA5	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	C19orf18	Homo sapiens	Q8NEA5	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	ELOVL4	Homo sapiens	Q9GZR5	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	ELOVL4	Homo sapiens	Q9GZR5	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	FAM210B	Homo sapiens	Q96KR6	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	FAM210B	Homo sapiens	Q96KR6	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	TMEM86B	Homo sapiens	Q8N661	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	TMEM86B	Homo sapiens	Q8N661	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	CERS4	Homo sapiens	Q9HA82	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	CERS4	Homo sapiens	Q9HA82	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	TMEM14A	Homo sapiens	Q9Y6G1	Validated Y2H	32296183
Intra	IER3IP1	Q9Y5U9	HERPUD2	Homo sapiens	Q9BSE4	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	HERPUD2	Homo sapiens	Q9BSE4	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	ZFYVE27	Homo sapiens	Q5T4F4	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	ZFYVE27	Homo sapiens	Q5T4F4	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	EBP	Homo sapiens	Q15125	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	EBP	Homo sapiens	Q15125	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	PEX12	Homo sapiens	O00623	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	PEX12	Homo sapiens	O00623	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	TMX2	Homo sapiens	Q9Y320	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	TMX2	Homo sapiens	Q9Y320	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	UBQLN1	Homo sapiens	Q9UMX0	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	UBQLN1	Homo sapiens	Q9UMX0	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	KCNA1	Homo sapiens	Q09470	Y2H Array	32296183
Intra	IER3IP1	Q9Y5U9	KCNA1	Homo sapiens	Q09470	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
Intra	IER3IP1	Q9Y5U9	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Microcephaly, Epilepsy, And Diabetes Syndrome MEDS1 Meds Microcephaly, Epilepsy, Diabetes Syndrome
Primary Microcephaly-Epilepsy-Permanent Neonatal Diabetes Syndrome
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Wolcott-Rallison Syndrome Med-Iddm Syndrome Iddm-Med Syndrome Wolcott Rallison Syndrome WRS Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus
Mehmo Syndrome	Mental Retardation, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity MEHMO Mrxs20 Mrxs25 X-Linked Intellectual Disability-Epileptic Seizures-Hypogenitalism-Microcephaly-Obesity Syndrome Mrxsbrk Mental Retardation, X-Linked, Syndromic 20 Mental Retardation, X-Linked, Syndromic 25 Mental Retardation, X-Linked, Syndromic, Borck Type Syndromic X-Linked Mental Retardation 20 Syndromic X-Linked Mental Retardation 25 Intellectual Disability, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity X-Linked Mehmo Syndrome
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Thiamine-Responsive Megaloblastic Anemia Syndrome	TRMA Rogers Syndrome Thiamine-Responsive Myelodysplasia Thiamine-Responsive Anemia Syndrome Thiamine Metabolism Dysfunction Syndrome 1 Thmd1 Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness Thiamine Responsive Megaloblastic Anemia Syndrome Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia Thiamine-Responsive Anaemia Syndrome Thiamine-Responsive Megaloblastic Anaemia Syndrome Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss
Permanent Neonatal Diabetes Mellitus	Pndm Permanent Diabetes Mellitus Of Infancy Pdmi Neonatal Diabetes Mellitus, Permanent
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Neonatal Diabetes Mellitus With Congenital Hypothyroidism Ndh Syndrome NDH Neonatal Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome
Neonatal Diabetes	Neonatal Diabetes Mellitus Diabetes Mellitus Syndrome In Newborn Infant Ndm
Caspase 8 Deficiency	Autoimmune Lymphoproliferative Syndrome Type 2b Caspase-8 Deficiency Ceds Alps2b Autoimmune Lymphoproliferative Syndrome, Type Iib Alps With Recurrent Viral Infections Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections Caspase 8 Deficiency Syndrome Caspase 8 Lymphadenopathy Syndrome Autoimmune Lymphoproliferative Syndrome Type Iib Caspase Eight Deficiency State CASP8D
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Wolfram Syndrome 2	WFS2
Intestinal Atresia
Megaloblastic Anemia	Imerslund-Grasbeck Syndrome Igs Defect Of Enterocyte Intrinsic Factor Receptor Enterocyte Cobalamin Malabsorption Familial Megaloblastic Anemia Megaloblastic Anemia 1 Selective Cobalamin Malabsorption With Proteinuria Imerslund-Gräsbeck Syndrome Anemia, Megaloblastic Grasbeck-Imerslund Syndrome Megaloblastic Anaemia Mga1 Norwegian Type Recessive Hereditary Megaloblastic Anaemia 1 Recessive Hereditary Megaloblastic Anemia 1 Rh-Mga1 Gräsbeck-Imerslund Disease Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12 Anemia Megaloblastic Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3-@Methylglutaconic Aciduria, Type I
Wolfram Syndrome	Didmoad Syndrome Didmoad Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Wfs Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness Didmoadud Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome
Leukoencephalopathy With Vanishing White Matter	Cree Leukoencephalopathy Vanishing White Matter Disease Ovarioleukodystrophy Vanishing White Matter Leukodystrophy Childhood Ataxia With Central Nervous System Hypomyelinization Cach Cach Syndrome Myelinosis Centralis Diffusa VWM Cle Childhood Ataxia With Central Nervous System Hypomyelination Childhood Ataxia With Diffuse Central Nervous System Hypomyelination Cach/Vwm Cach/Vwm Syndrome Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter Cree Leukoencehalopathy Late Infantile Cach Syndrome Juvenile Or Adult Cach Syndrome Congenital Or Early Infantile Cach Syndrome Leukodystrophy With Vanishing White Matter
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06549	IER3IP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28110	Hdhd2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	IER3IP1	RGD	RGD:1561565
Mus musculus	IER3IP1	MGD	MGI:1913441
Others	IER3IP1	NCBI