ERGIC3 - ERGIC and golgi 3 Gene

Also Known as Erv46; CGI-54; C2orf47; PRO0989; C20orf47; NY-BR-84; SDBCAG84; dJ477O4.2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51614

About ERGIC3

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:35,542,078-35,557,634 (from NCBI)

This gene has 19 transcripts (splice variants), 215 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 113.7), testis (RPKM 112.2) and 25 other tissues.

Summary

Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

ERGIC3 Products (2)

mRNA Protein Name
NM_015966.3 NP_057050.1 endoplasmic reticulum-Golgi intermediate compartment protein 3 isoform b
NM_198398.2 NP_938408.1 endoplasmic reticulum-Golgi intermediate compartment protein 3 isoform a
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15308636 GOA
Biological Process GO Annotation Evidence References Source
involved in endoplasmic reticulum to Golgi vesicle-mediated transport IDA
IDA: Inferred from direct assay
31142615 GOA
involved in positive regulation of intracellular protein transport IMP
IMP: Inferred from mutant phenotype
31142615 GOA
Cellular Component GO Annotation Evidence References Source
part of retrograde transporter complex, Golgi to ER IPI
IPI: Inferred from physical interaction
31142615 GOA
part of transporter complex IPI
IPI: Inferred from physical interaction
31142615 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

ERGIC3 Protein Structure

ERGIC_N

ERGIC_N: Endoplasmic Reticulum-Golgi Intermediate Compartment (ERGIC) (6 - 101)

COPIIcoated_ERV

COPIIcoated_ERV: Endoplasmic reticulum vesicle transporter (145 - 363)

  • 0
  • 100
  • 200
  • 300
  • 383 a.a.
Protein Preferred Names Protein Names

endoplasmic reticulum-Golgi intermediate compartment protein 3

  • endoplasmic reticulum-localized protein ERp43

ERGIC3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ERGIC3 Q9Y282 MARCHF2 Homo sapiens Q9P0N8 31142615
Intra
ERGIC3 Q9Y282 HP Homo sapiens P00738 31142615
Intra
ERGIC3 Q9Y282 SFXN5 Homo sapiens Q8TD22 33961781
Intra
ERGIC3 Q9Y282 VMP1 Homo sapiens Q96GC9 33961781
Intra
ERGIC3 Q9Y282 TMEM14A Homo sapiens Q9Y6G1 32296183
Intra
ERGIC3 Q9Y282 UBIAD1 Homo sapiens Q9Y5Z9 32296183
Intra
ERGIC3 Q9Y282 FIS1 Homo sapiens Q9Y3D6 32296183
Intra
ERGIC3 Q9Y282 TMEM222 Homo sapiens Q9H0R3 32296183
Intra
ERGIC3 Q9Y282 PLLP Homo sapiens Q9Y342 32296183
Intra
ERGIC3 Q9Y282 ERGIC2 Homo sapiens Q96RQ1 31142615
Intra
ERGIC3 Q9Y282 ERGIC2 Homo sapiens Q96RQ1 33961781
Intra
ERGIC3 Q9Y282 UNC50 Homo sapiens Q53HI1 32296183
Intra
ERGIC3 Q9Y282 ERGIC1 Homo sapiens Q969X5 31142615
Intra
ERGIC3 Q9Y282 ERGIC1 Homo sapiens Q969X5
IF
15308636
Intra
ERGIC3 Q9Y282 YIPF1 Homo sapiens Q9Y548 32296183
Intra
ERGIC3 Q9Y282 SELENOK Homo sapiens Q9Y6D0 32296183
Intra
ERGIC3 Q9Y282 PEX16 Homo sapiens Q9Y5Y5 32296183
Intra
ERGIC3 Q9Y282 SERPINA1 Homo sapiens P01009 31142615
Intra
ERGIC3 Q9Y282 UBE2J1 Homo sapiens Q9Y385 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Immunodeficiency 33
  • IMD33

  • X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Ikbkg Deficiency

  • X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Nemo Deficiency

  • X-Linked Msmd Due To Ikbkg Deficiency

  • X-Linked Msmd Due To Nemo Deficiency

  • Invasive Pneumococcal Disease, Recurrent Isolated, 2

  • Invasive Pneumococcal Disease, Recurrent Isolated, 2, Formerly

  • Ipd2, Formerly

  • Nf-Kappa B Essential Modulator Deficiency

  • Familial X-Linked 1 Atypical Mycobacteriosis

  • Nemo Deficiency Syndrome

  • Amcbx1

  • Familial, X-Linked, Atypical Mycobacteriosis 1

  • Ipd2

  • Recurrent Isolated Invasive Pneumococcal Disease 2

  • X-Linked Disseminated Atypical Mycobacterial Infection Type 1

  • X-Linked Immunodeficiency 33, Mycobacteriosis

  • X-Linked Susceptibility To Mycobacterial Disease Type 1

  • Invasive Pneumococcal Disease, Recurrent Isolated, Type 2

  • Atypical Mycobacteriosis, Familial, X-Linked 1

Alpha Thalassemia-Intellectual Disability Syndrome Type 1
  • Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type

  • Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16

  • Atr Syndrome Linked To Chromosome 16

  • Atr Syndrome, Deletion Type

  • Atr-16 Syndrome

  • Alpha Thalassemia-Retardation Syndrome

  • Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type

  • Alpha-Thalassemia/Mental Retardation Syndrome, Type 1

  • Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Familial Adult Myoclonic Epilepsy
  • Benign Adult Familial Myoclonus Epilepsy

  • Bafme

  • Benign Adult Familial Myoclonic Epilepsy

  • Fame

  • Familial Cortical Myoclonic Tremor And Epilepsy

  • Fcmte

  • Adcme

  • Autosomal Dominant Cortical Myoclonus And Epilepsy

  • Fam

  • Epilepsy, Myoclonic, Familial Adult

  • Epilepsy, Myoclonic, Benign Adult Familial, Type 2

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta ERGIC3 VGNC VGNC:72274
Rattus norvegicus ERGIC3 RGD RGD:1308144
Mus musculus ERGIC3 MGD MGI:1913616
Bos taurus ERGIC3 VGNC VGNC:28580
Canis familiaris ERGIC3 VGNC VGNC:40452
Felis catus ERGIC3 VGNC VGNC:61941
Others ERGIC3 NCBI