SFI1 - SFI1 centrin binding protein Gene

Homo sapiens

Also known as PISD; hSfi1p; PPP1R139

Gene ID: 9814 | Gene type: protein coding

About SFI1

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:31,496,139-31,618,588 (from NCBI)

This gene has 29 transcripts (splice variants), 154 orthologues and 1 paralogue. Broad expression in lymph node (RPKM 6.7), spleen (RPKM 6.6) and 25 other tissues.

Summary

Enables Phosphatase binding activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

SFI1 Products(5)

mRNA	Protein	Name
NM_001007467.3	NP_001007468.1	protein SFI1 homolog isoform a
NM_001258325.1	NP_001245254.1	protein SFI1 homolog isoform c
NM_001258326.2	NP_001245255.1	protein SFI1 homolog isoform d
NM_001258327.2	NP_001245256.1	protein SFI1 homolog isoform e
NM_014775.4	NP_055590.2	protein SFI1 homolog isoform b

Protein Preferred Names

Protein Names

protein SFI1 homolog

Sfi1 homolog, spindle assembly associated

Related Diseases

Diseases

Alias

Female-Restricted Syndromic X-Linked Intellectual Disability 99

X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Intellectual Disability, X-Linked 99, Syndromic, Female-Restricted
Female-Restricted Syndromic X-Linked Mental Retardation 99	Mrxs99f
X-Linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited To Females

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12766	SFI1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SFI1	RGD	RGD:1560636
Bos taurus	SFI1	VGNC	VGNC:34514
Canis familiaris	SFI1	VGNC	VGNC:46075
Felis catus	SFI1	VGNC	VGNC:65060
Macaca mulatta	SFI1	VGNC	VGNC:77328
Mus musculus	SFI1	MGD	MGI:1926137