SPRING1 - SREBF pathway regulator in golgi 1 Gene

Also Known as LUR1; POST1; SPRING; C12orf49

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79794

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of SREBP signaling pathway IMP
IMP: Inferred from mutant phenotype
32111832 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi membrane IDA
IDA: Inferred from direct assay
32111832 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

SPRING1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SPRING1 Q9H741 TRIM54 Homo sapiens Q9BYV2 25416956
Intra
SPRING1 Q9H741 KRT31 Homo sapiens Q15323 25416956
Intra
SPRING1 Q9H741 KRT31 Homo sapiens Q15323 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others SPRING1 NCBI