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FLASH GENE

Symbol

SPAG1

contributors: mct/npt - updated : 23-11-2013

HGNC name	sperm associated antigen 1
HGNC id	11212

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ICS29 immotile cilia syndrome 29
Location	8q22.2      Physical location : 101.170.262 - 101.254.130
Synonym name	TPR-containing protein involved in spermatogenesis
	infertility-related sperm protein Spag-1
	tetratricopeptide repeat-containing protein
	infertility-related sperm protein Spag-1
Synonym symbol(s)	SP75,TPIS, HSD3.8, FLJ32920

DNA

TYPE	functioning gene
STRUCTURE	83.87 kb     19 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	variants 1 and 2 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003114 19 - 3958 NP_003105 103.51 926 lung, with the strongest expression in brain, colon, kidney, and testis 2013 24055112 NM_172218 19 - 3760 NP_757367 103.51 926 - 2013 24055112

EXPRESSION

Type

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 Digestive intestine large intestine colon   highly Homo sapiens Nervous brain       highly Homo sapiens Reproductive male system testis     predominantly Homo sapiens Respiratory lung         Homo sapiens Urinary kidney       highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive sperm cell Reproductive spermatocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	nine TPR domains
	nine tetratricopeptide repeat motifs (TPRs) that form scaffolds to mediate protein-protein interactions and are often involved in the assembly of multiprotein complexes
	an ATP/GTP-binding site
	multiple putative phosphorylation sites (Neesse 2007)

HOMOLOGY

interspecies	homolog to murine Spag1
	ortholog to D. rerio spag1

Homologene

FAMILY

CATEGORY

regulatory , antigen

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
text	membrane of the germ cells
	colocalization of SPAG1 with microtubules

basic FUNCTION	regulating GTP signal transduction pathway involved inspermatogenesis and fertilization
	could contribute to the early spread and poor prognosis of pancreatic adenocarcinoma
	potential role of SPAG1 in cancer cell motility
	probably plays a role in the cytoplasmic assembly and/or trafficking of the axonemal dynein arms
	probably not an integral axonemal protein but plays a role in the cytoplasmic assembly of the ciliary dynein arms

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ICS29

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in a large proportion of pancreatic ductal adenocarcinomas (PDAC)

Susceptibility

Variant & Polymorphism

Candidate gene	marker of PDAC progression
Marker
Therapy target

ANIMAL & CELL MODELS