SFI1 (SFI1 centrin binding protein)

Gene

• Entrez ID: 9814
• Gene name: SFI1 centrin binding protein
• Gene symbol: SFI1
• Synonyms (NCBI Gene): PISD, PPP1R139, hSfi1p
• Chromosome: 22
• Chromosome location: 22q12.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023645	hsa-miR-1-3p	Microarray	18668037
MIRT1341588	hsa-miR-1343	CLIP-seq
MIRT1341589	hsa-miR-3689d	CLIP-seq
MIRT1341590	hsa-miR-3690	CLIP-seq
MIRT1341591	hsa-miR-4254	CLIP-seq
MIRT1341592	hsa-miR-4326	CLIP-seq
MIRT1341593	hsa-miR-4649-3p	CLIP-seq
MIRT1341594	hsa-miR-4652-3p	CLIP-seq
MIRT1341595	hsa-miR-544b	CLIP-seq
MIRT1341596	hsa-miR-548a-3p	CLIP-seq
MIRT1341597	hsa-miR-548e	CLIP-seq
MIRT1341598	hsa-miR-548f	CLIP-seq
MIRT1341599	hsa-miR-548g	CLIP-seq
MIRT1341600	hsa-miR-892a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16956364, 19389623, 25416956, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005814	Component	Centriole	IDA	37934472
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0019902	Function	Phosphatase binding	IBA
GO:0019902	Function	Phosphatase binding	IDA	19389623

Other IDs

• MIM: 612765
• HGNC: 29064
• e!Ensembl: ENSG00000198089

Protein

• UniProt ID: A8K8P3
• Protein name: Protein SFI1 homolog (hSFI1)
• Protein function: Plays a role in the dynamic structure of centrosome-associated contractile fibers via its interaction with CETN2.
• PDB: 2K2I
• Sequence:

  MKNLLTEKCISSHNFHQKVIKQRMEKKVDSRYFKDGAVKKPYSAKTLSNKKSSASFGIRR
  ELPSTSHLVQYRGTHTCTRQGRLRELRIRCVARKFLYLWIRMTFGRVFPSKARFYYEQRL
  LRKVFEEWKEEWWVFQHEWKLCVRADCHYRYYLYNLMFQTWKTYVRQQQEMRNKYIRAEV
  HDAKQKMRQAWKSWLIYVVVRRTKLQMQTTALEFRQRIILRVWWSTWRQRLGQVRVSRAL
  HASALKHRALSLQVQAWSQWREQLLYVQKEKQKVVSAVKHHQHWQKRRFLKAWLEYLQVR
  RVKRQQNEMAERFHHVTVLQIYFCDWQQAWERRESLYAHHAQVEKLARKMALRRAFTHWK
  HYMLLCAEEAAQFEMAEEHHRHSQLYFCFRALKDNVTHAHLQQIRRNLAHQQHGVTLLHR
  FWNLWRSQIEQKKERELLPLLHAAWDHYRIALLCKCIELWLQYTQKRRYKQLLQARADGH
  FQQRALPAAFHTWNRLWRWRHQENVLSARATRFHRETLEKQVFSLWRQKMFQHRENRLAE
  RMAILHAERQLLYRSWFMWHQQAAARHQEQEWQTVACAHHRHGRLKKAFCLWRESAQGLR
  TERTGRVRAAEFHMAQLLRWAWSQWRECLALRGAERQKLMRADLHHQHSVLHRALQAWVT
  YQGRVRSILREVAARESQHNRQLLRGALRRWKENTMARVDEAKKTFQASTHYRRTICSKV
  LVQWREAVSVQMYYRQQEDCAIWEAQKVLDRGCLRTWFQRWWDCSRRSAQQRLQLERAVQ
  HHHRQLLLEGLARWKTHHLQCVRKRLLHRQSTQLLAQRLSRTCFRQWRQQLAARRQEQRA
  TVRALWFWAFSLQAKVWATWLAFVLERRRKKARLQWALQAYQGQLLQEGATRLLRFAASM
  KASRQQLQAQQQVQAAHSLHRAVRRCATLWKQKVLGRGGKPQPLAAIAPSRKVTFEGPLL
  NRIAAGAGDGTLETKRPQASRPLGALGRLAAEEPHALELNTAHSARKQPRRPHFLLEPAQ
  SQRPQKPQEHGLGMAQPAAPSLTRPFLAEAPTALVPHSPLPGALSSAPGPKQPPTASTGP
  ELLLLPLSSFMPCGAAAPARVSAQRATPRDKPPVPSSLASVPDPHLLLPGDFSATRAGPG
  LSTAGSLDLEAELEEIQQQLLHYQTTKQNLWSCRRQASSLRRWLELNREEPGPEDQEVEQ
  QVQKELEQVEMQIQLLAEELQAQRQPIGACVARIQALRQALC

• Sequence length: 1242

Pathways

Reactome:

Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Chronic kidney disease stage 5	Kidney Disease	BEFREE	21150874		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26634513	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	31118516		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	21150874	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21150874		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	GWASDB_DG	21150874		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31197030		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31197030	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	24551085	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	21150874	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	21150874		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	31197030		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	31197030	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11818159		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29391571		★☆☆☆☆ Found in Text Mining only