Tissue expression of SMNDC1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	SMNDC1
Gene description	Survival motor neuron domain containing 1
Protein class	Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	SMNDC1 (HGNC Symbol)
Synonyms	SMNR, SPF30, TDRD16C
Description	Survival motor neuron domain containing 1 (HGNC Symbol)
Entrez gene summary	This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]
Chromosome	10
Cytoband	q25.2
Chromosome location (bp)	110290730 - 110304951
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000119953 (version 83.38)
Entrez gene	10285
UniProt	O75940 (UniProt - Evidence at protein level)
neXtProt	NX_O75940
Antibodypedia	SMNDC1 antibodies

PROTEIN BROWSER

SMNDC1-001	SMNDC1-002

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SMNDC1-001 ENSP00000358616 ENST00000369603	O75940 [Direct mapping] Survival of motor neuron-related-splicing factor 30 Show all	Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000245 [spliceosomal complex assembly] GO:0000375 [RNA splicing, via transesterification reactions] GO:0003723 [RNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005681 [spliceosomal complex] GO:0005737 [cytoplasm] GO:0006397 [mRNA processing] GO:0006915 [apoptotic process] GO:0015030 [Cajal body] GO:0016607 [nuclear speck] GO:0044822 [poly(A) RNA binding] GO:0045111 [intermediate filament cytoskeleton] Show all	238 aa 26.7 kDa	No	0
SMNDC1-002 ENSP00000358605 ENST00000369592	O75940 [Direct mapping] Survival of motor neuron-related-splicing factor 30 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0000245 [spliceosomal complex assembly] GO:0000375 [RNA splicing, via transesterification reactions] GO:0003723 [RNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005681 [spliceosomal complex] GO:0005737 [cytoplasm] GO:0006397 [mRNA processing] GO:0006915 [apoptotic process] GO:0015030 [Cajal body] GO:0016607 [nuclear speck] GO:0044822 [poly(A) RNA binding] GO:0045111 [intermediate filament cytoskeleton] Show all	238 aa 26.7 kDa	No	0