SERF1A (small EDRK-rich factor 1A)

2014-11-01 Affiliation

Identity

HGNC

SERF1A

LOCATION

5q13.2

LOCUSID

8293

ALIAS

4F5,FAM2A,H4F5,SERF1,SMAM1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 8293
MIM: 603011
HGNC: 10755
Ensembl: ENSG00000172058

Variants:

dbSNP: 8293
ClinVar: 8293
TCGA: ENSG00000172058
COSMIC: SERF1A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000172058	ENST00000317633	O75920
ENSG00000172058	ENST00000354833	O75920
ENSG00000172058	ENST00000504458	D6RC42
ENSG00000172058	ENST00000507348	E5RIQ9
ENSG00000172058	ENST00000511162	E5RIX6
ENSG00000172058	ENST00000512649	D6RCL9
ENSG00000172058	ENST00000512868	E5RHJ0
ENSG00000172058	ENST00000513436	D6RC90

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
20723760	2010	Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity.	40
19154529	2009	A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy.	16
22854022	2012	SERF protein is a direct modifier of amyloid fiber assembly.	13
21821450	2012	Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.	10
26311540	2015	Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients.	3

Citation

Dessen P

SERF1A (small EDRK-rich factor 1A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73131/serf1a