Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	29901
Gene name	SAC3 domain containing 1
Gene symbol	SAC3D1
Synonyms (NCBI Gene)	HSU79266SHD1
Chromosome	11
Chromosome location	11q13.1

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001337	hsa-miR-1-3p	pSILAC	18668040
MIRT001337	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT042620	hsa-miR-423-3p	CLASH	23622248

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16239144
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IBA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0051225	Process	Spindle assembly	IBA
GO:0051298	Process	Centrosome duplication	IBA
GO:0051301	Process	Cell division	IEA

MIM	HGNC	e!Ensembl
618796	30179	ENSG00000168061

A6NKF1

Protein name

SAC3 domain-containing protein 1 (SAC3 homology domain-containing protein 1)

Protein function

Involved in centrosome duplication and mitotic progression.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03399	SAC3_GANP	55 → 349	SAC3/GANP family	Family

Sequence

MAGRRAQTGSAPPRPAAPHPRPASRAFPQHCRPRDAERPPSPRSPLMPGCELPVGTCPDM
CPAAERAQREREHRLHRLEVVPGCRQDPPRADPQRAVKEYSRPAAGKPRPPPSQLRPPSV
LLATVRYLAGEVAESADIARAEVASFVADRLRAVLLDLALQGAGDAEAAVVLEAALATLL
TVVARLGPDAARGPADPVLLQAQVQEGFGSLRRCYARGAGPHPRQPAFQGLFLLYNLGSV
EALHEVLQLPAALRACPPLRKALAVDAAFREGNAARLFRLLQTLPYLPSCAVQCHVGHAR
REALARFARAFSTPKGQTLPLGFMVNLLALDGLREARDLCQAHGLPLDGEERVVFLRGRY
VEEGLPPASTCKVLVESKLRGRTLEEVVMAEEEDEGTDRPGSPA

Sequence length

404

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
MELANOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	30353105	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	30353105	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	32319600, 40461549	★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome X Linked	Stimulate	40461549	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	40461549	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	32319600	★★★★★ ★☆☆☆☆ Found in Text Mining only

SAC3D1 (SAC3 domain containing 1)