SPRING1 - SREBF pathway regulator in golgi 1 Gene

Homo sapiens

Also known as LUR1; POST1; SPRING; C12orf49

Gene ID: 79794 | Gene type: protein coding

About SPRING1

This gene has 4 transcripts (splice variants) and 204 orthologues. Broad expression in thyroid (RPKM 43.0), lung (RPKM 18.5) and 21 other tissues.

Involved in positive regulation of SREBP signaling pathway. Located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]

mRNA	Protein	Name
NM_001353623.2	NP_001340552.1	SREBP regulating gene protein isoform 2
NM_001353624.2	NP_001340553.1	SREBP regulating gene protein isoform 3
NM_001353625.2	NP_001340554.1	SREBP regulating gene protein isoform 4
NM_024738.4	NP_079014.1	SREBP regulating gene protein isoform 1

DUF2054

Protein Preferred Names

Protein Names

SREBP regulating gene protein

UPF0454 protein C12orf49

Diseases

Alias

Ritscher-Schinzel Syndrome 1

3c Syndrome	Craniocerebellocardiac Dysplasia
RTSC1	Dandy-Walker-Like Malformation With Atrioventricular Septal Defect
Dandy-Walker Like Malformation With Atrioventricular Septal Defect	Cranio-Cerebello-Cardiac Dysplasia
Dandy-Walker-Like Malformation With Asd	Ritscher Schinzel Syndrome
Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome	Ritscher-Schinzel Syndrome
3c

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13711	SPRING1 Human Pre-designed siRNA Set A		/	Unkown

Species	Symbol	Source	ID
Macaca mulatta	SPRING1	VGNC	VGNC:70394
Felis catus	SPRING1	VGNC	VGNC:60619
Mus musculus	SPRING1	MGD	MGI:1924042
Bos taurus	SPRING1	VGNC	VGNC:52645
Rattus norvegicus	SPRING1	RGD	RGD:1562310

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