1. Gene
  2. SPRING1 - SREBF pathway regulator in golgi 1 Gene

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.

Summary

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

SPRING1 Products(4)

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

SPRING1 Protein Structure

DUF2054

DUF2054: Uncharacterized conserved protein (DUF2054) (68 - 195)

  • 0
  • 100
  • 205 a.a.
Protein Preferred Names Protein Names

SREBP regulating gene protein

UPF0454 protein C12orf49

Related Diseases

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

Orthologs Information

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