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FLASH GENE

Symbol

SERF1A

contributors: - updated : 05-01-2007

HGNC name	small EDRK-rich factor 1A (telomeric)
HGNC id	10755

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5q13.1      Physical location : 69.321.071 - 70.214.356
Synonym name	SMA modifier 1
Synonym symbol(s)	H4F5, H4F5T, SERF1T, FAM2A, SMAM1, SERF1, SEF1

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	marker D5F149S2 (C212) embedded in intron 4 (between exons 3a and 3b)
STRUCTURE	17.00 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see TFNR

regionally located

tightly linked and centromeric to SMN1

RNA

TRANSCRIPTS	type	messenger

text	also minor forms using exon 1b

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed H4F5TL - - 1912 - 110 testis, heart, brain,skeletal muscle Scharf exons 1a, 2, 3b H4F5TS - - 700 - 61 brain,spinal cord Scharf exons 1a, 2, 3a

EXPRESSION

Type

constitutive of

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive salivary gland           stomach         Endocrine neuroendocrine pituitary         pancreas         Hearing/Equilibrium ear inner cochlea   predominantly Nervous brain diencephalon amygdala       nerve cranial nerve     highly   spinal cord         Reproductive female system breast mammary gland       male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum skeletal     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous optic nerve

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text

tissue

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to murine Serf1

intraspecies

homolog to SERF1B

Homologene

FAMILY

SERF family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION

intracellular

basic FUNCTION

bearing low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS