PHF5A - PHD finger protein 5A Gene

Homo sapiens

Also known as INI; Rds3; SF3B7; SAP14b; SF3b14b; bK223H9.2

Gene ID: 84844 | Gene type: protein coding

About PHF5A

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:41,459,717-41,468,692 (from NCBI)

This gene has 3 transcripts (splice variants) and 223 orthologues. Ubiquitous expression in bone marrow (RPKM 19.5), lymph node (RPKM 15.5) and 25 other tissues.

Summary

This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. [provided by RefSeq, Jul 2008]

PHF5A Products(1)

mRNA	Protein	Name
NM_032758.4	NP_116147.1	PHD finger-like domain-containing protein 5A

PHF5A Protein Structure

PHF5

0
100
110 a.a.

Protein Preferred Names

Protein Names

PHD finger-like domain-containing protein 5A

PHD finger-like domain protein 5A

Related Diseases

Diseases

Alias

Epiphyseal Chondrodysplasia, Miura Type

ECDM	Tall Stature-Scoliosis-Macrodactyly Of The Great Toes Syndrome
Miura Type Epiphyseal Chondrodysplasia	Tall Stature-Scoliosis-Macrodactyly Of The Halluces Syndrome
Tall Stature-Long Halluces-Multiple Extra-Epiphyses Syndrome	Chondrodysplasia, Epiphyseal, Miura Type

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10428	PHF5A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PHF5A	MGD	MGI:2156864
Bos taurus	PHF5A	VGNC	VGNC:32826
Canis familiaris	PHF5A	VGNC	VGNC:44491
Macaca mulatta	PHF5A	VGNC	VGNC:107913
Felis catus	PHF5A	VGNC	VGNC:64145
Rattus norvegicus	PHF5A	RGD	RGD:621555

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