1. Gene
  2. SNRPE - small nuclear ribonucleoprotein polypeptide E Gene

SNRPE - small nuclear ribonucleoprotein polypeptide E Gene

Homo sapiens

Also known as SME; Sm-E; HYPT11; snRNP-E

Gene ID: 6635 | Gene type: protein coding

About SNRPE

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:203,861,599-203,871,152 (from NCBI)

This gene has 6 transcripts (splice variants), 178 orthologues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 16.8), ovary (RPKM 16.5) and 25 other tissues.

Summary

The protein encoded by this gene is a core component of U small nuclear ribonucleoproteins, which are key components of the pre-mRNA processing spliceosome. The encoded protein plays a role in the 3' end processing of histone transcripts. This protein is one of the targets in the autoimmune disease systemic lupus erythematosus, and mutations in this gene have been associated with hypotrichosis. Several pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2016]

SNRPE Products(4)

mRNA Protein Name
NM_001304464.2 NP_001291393.1 small nuclear ribonucleoprotein E isoform 2
NM_001328637.2 NP_001315566.1 small nuclear ribonucleoprotein E isoform 3
NM_001328638.2 NP_001315567.1 small nuclear ribonucleoprotein E isoform 4
NM_003094.4 NP_003085.1 small nuclear ribonucleoprotein E isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
9417867 GOA
Biological Process GO Annotation Evidence Reference Source
involved in mRNA splicing, via spliceosome IDA
IDA: Inferred from direct assay
28076346 GOA
involved in spliceosomal snRNP assembly IDA
IDA: Inferred from direct assay
18984161 GOA
Cellular Component GO Annotation Evidence Reference Source
part of SMN-Sm protein complex IDA
IDA: Inferred from direct assay
18984161 GOA
part of U1 snRNP IDA
IDA: Inferred from direct assay
21113136 GOA
part of U1 snRNP IPI
IPI: Inferred from physical interaction
33677607 GOA
part of U12-type spliceosomal complex IDA
IDA: Inferred from direct assay
15146077 GOA
part of U2-type catalytic step 2 spliceosome IDA
IDA: Inferred from direct assay
28076346 GOA
part of U2-type precatalytic spliceosome IDA
IDA: Inferred from direct assay
28781166 GOA
part of U2-type spliceosomal complex IDA
IDA: Inferred from direct assay
32494006 GOA
part of U4 snRNP IDA
IDA: Inferred from direct assay
21516107 GOA
part of U4/U6 x U5 tri-snRNP complex IDA
IDA: Inferred from direct assay
26912367 GOA
part of U4/U6 x U5 tri-snRNP complex IPI
IPI: Inferred from physical interaction
30975767 GOA
part of U7 snRNP IDA
IDA: Inferred from direct assay
11574479 GOA
part of catalytic step 2 spliceosome IDA
IDA: Inferred from direct assay
11991638 GOA
located in cytosol IDA
IDA: Inferred from direct assay
18984161 GOA
part of methylosome IDA
IDA: Inferred from direct assay
18984161 GOA
located in nucleus IDA
IDA: Inferred from direct assay
23246290 GOA
part of pICln-Sm protein complex IDA
IDA: Inferred from direct assay
18984161 GOA
part of spliceosomal complex IPI
IPI: Inferred from physical interaction
33677607 GOA
part of telomerase holoenzyme complex IDA
IDA: Inferred from direct assay
18082603 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

SNRPE Protein Structure

LSM

LSM: LSM domain (24 - 87)

  • 0
  • 92 a.a.
Protein Preferred Names Protein Names

small nuclear ribonucleoprotein E

sm protein E

SNRPE Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SNRPE P62304 SF3A2 Homo sapiens Q15428 33961781
Intra
SNRPE P62304 SF3A2 Homo sapiens Q15428 28514442
Intra
SNRPE P62304 LSM2 Homo sapiens Q9Y333 28514442
Intra
SNRPE P62304 LSM2 Homo sapiens Q9Y333 33961781
Intra
SNRPE P62304 SNRPF Homo sapiens P62306 32296183
Intra
SNRPE P62304 SNRPF Homo sapiens P62306 33961781
Intra
SNRPE P62304 SNRPF Homo sapiens P62306 32296183
Intra
SNRPE P62304 SNRPF Homo sapiens P62306 28514442
Intra
SNRPE P62304 SNRPF Homo sapiens P62306 18984161
Intra
SNRPE P62304 SNRPF Homo sapiens P62306
Y2H
9417867
Intra
SNRPE P62304 SNRPF Homo sapiens P62306 32296183
Intra
SNRPE P62304 SNRPF Homo sapiens P62306
Y2H
22365833
Intra
SNRPE P62304 SNRPF Homo sapiens P62306
GMS
18984161
Intra
SNRPE P62304 LSM5 Homo sapiens Q9Y4Y9 32296183
Intra
SNRPE P62304 LSM5 Homo sapiens Q9Y4Y9 33961781
Intra
SNRPE P62304 GEMIN5 Homo sapiens Q8TEQ6 28514442
Intra
SNRPE P62304 GEMIN5 Homo sapiens Q8TEQ6 33961781
Intra
SNRPE P62304 SNRPG Homo sapiens P62308 33961781
Intra
SNRPE P62304 SNRPG Homo sapiens P62308 32296183
Intra
SNRPE P62304 SNRPG Homo sapiens P62308
GMS
18984161
Intra
SNRPE P62304 SNRPG Homo sapiens P62308 18984161
Intra
SNRPE P62304 SNRPG Homo sapiens P62308
Y2H
9417867
Intra
SNRPE P62304 GEMIN6 Homo sapiens Q8WXD5 33961781
Intra
SNRPE P62304 GEMIN6 Homo sapiens Q8WXD5 28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hypotrichosis 11

HYPT11

Hypotrichosis, Type 11

Hypotrichosis Simplex

Hereditary Hypotrichosis Simplex

Hhs

Hypotrichosis
Hypotrichosis 7

Woolly Hair, Autosomal Recessive 2, With Or Without Hypotrichosis

HYPT7

Hypotrichosis, Localized, Autosomal Recessive 2

Lah2

Ah

Total Hypotrichosis, Mari Type

Wh/Ht

Hypotrichosis, Autosomal Recessive

Hypotrichosis, Total, Mari Type

Woolly Hair, Autosomal Recessive 2 With Or Without Hypotrichosis

Total Mari Type Hypotrichosis

Alopecia Universalis Congenita, Mari Type

Mari Type Alopecia Universalis Congenita

Autosomal Recessive Hypotrichosis

Autosomal Recessive Localized Hypotrichosis

Autosomal Recessive Woolly Hair With Or Without Hypotrichosis

Htl

Hypotrichoses

Hypotrichosis

Lah

Alopecia Universalis Congenita Mari Type

Hypotrichosis Autosomal Recessive

Hypotrichosis Localized Autosomal Recessive 2

Total Hypotrichosis Mari Type

Woolly Hair Autosomal Recessive 2

ARWH2

Woolly Hair Autosomal Recessive 2 With Or Without Hypotrichosis

Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

Hypotrichosis 4

HYPT4

Marie Unna Hereditary Hypotrichosis 1

Muhh1

Hypotrichosis, Marie Unna Type, 1

Hypotrichosis Marie Unna 1

Marie Unna Hereditary Hypotrichosis Type 1

Hypotrichosis, Hereditary, Marie Unna Type, 1

Hypotrichosis, Type 4

Hypotrichosis 6

HYPT6

Lah1

Hypotrichosis, Localized, Autosomal Recessive

Monilethrix-Like Hypotrichosis

Hypotrichosis, Localized, Autosomal Recessive 1

Lah

Htl

Autosomal Recessive Localized Hypotrichosis

Hypotrichosis Localized Autosomal Recessive

Hypotrichosis Localized Autosomal Recessive 1

Hypotrichosis, Type 6

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

Hypotrichosis 13

HYPT13

Hypotrichosis With Woolly Hair

Hypotrichosis, Type 13

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

Alopecia, Neurologic Defects, And Endocrinopathy Syndrome

Ane Syndrome

ANES

Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome

Alopecia-Progressive Neurological Defect-Endocrinopathy

Endocrine System Diseases

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

Orthologs Information

Species Symbol Source ID
Mus musculus SNRPE MGD MGI:98346
Rattus norvegicus SNRPE RGD RGD:2321675
Macaca mulatta SNRPE VGNC VGNC:100145