SRI (sorcin)

Gene Basic Information

Gene Basic Information

symbol:
SRI
locus group:
protein-coding gene
location:
7q21.12
gene_family:
EF-hand domain containing
alias symbol:
None
alias name:
None
entrez id:
6717
ensembl gene id:
ENSG00000075142
ucsc gene id:
uc003ujq.3
refseq accession:
NM_003130
hgnc_id:
HGNC:11292
approved reserved:
1989-03-09

Chromosome Location

Chromosome Location

7q21.12

Gene Summary

Gene Summary

SRI基因（也称为Sorcin）编码一种钙结合蛋白，属于penta-EF-hand（PEF）蛋白家族。该家族成员通常具有EF-hand结构域（一种钙离子结合模体），参与钙信号传导和细胞过程调控。SRI蛋白的主要功能是通过结合钙离子调节细胞内钙稳态，影响多种生理活动，如肌肉收缩、神经传递和分泌过程。其表达产物在心脏、骨骼肌和脑组织中较为丰富，作用位点包括内质网和细胞膜等钙储存或释放相关区域。SRI通过与ryanodine受体（RyR，一种钙释放通道）等靶蛋白相互作用，抑制过度钙释放，从而防止钙超载导致的心律失常或细胞凋亡。突变可能导致SRI钙结合能力异常，例如错义突变D150G会削弱其抑制RyR的能力，与家族性心室颤动和心肌病相关。在癌症中，SRI过表达常见于多药耐药肿瘤细胞，它通过结合并稳定抗凋亡蛋白（如Bcl-2）促进细胞存活；而敲低SRI可增强化疗敏感性。该基因还参与阿尔茨海默病病理，其表达降低会加剧β-淀粉样蛋白毒性引起的钙失调。基因家族共性方面，PEF家族成员（如ALG-2、Peflin）均含5个EF-hand结构域，但第5个常不结合钙离子，它们多参与膜 trafficking（膜运输）、细胞凋亡和蛋白酶体调控。过表达SRI可能通过抑制calpain（钙依赖性蛋白酶）减轻缺血再灌注损伤，但也会因过度抑制钙信号导致肌肉收缩功能障碍；表达不足则可能引发线粒体钙超载和氧化应激。在与其他基因的互作中，SRI可调控ANXA7（膜修复蛋白）的定位，并受miR-1/miR-206调控，这些microRNA的异常表达会间接影响SRI在心血管疾病中的作用。

ChineseEnglish

This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012]

OMIM entry for SRI     Wikipedia entry for SRI

Gene Sequence

Gene Sequence

Nucleotide sequence of SRI:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MAYPGHPGAG GGYYPGGYGG APGGPAFPGQ TQDPLYGYFA
41AVAGQDGQID ADELQRCLTQ SGIAGGYKPF NLETCRLMVS
81 MLDRDMSGT MGFNEFKELW AVLNGWRQHF ISFDTDRSGT
121VDPQELQKAL TTMGFRLSPQ AVNSIAKRYS TNGKITFDDY
161I ACCVKLRA LTDSFRRRDT AQQGVVNFPY DDFIQCVMSV
结构预测来自 AlphaFold DB（UniProt: P30626），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of SRI:           Showing partial SNPs
rs17057       rs43097       rs43098       rs43099       rs43100       rs43101       rs43102       rs43103       rs43104       rs43105       rs43106       rs43107       rs43108       rs43109       rs43110       rs43111       rs43112      

Gene Expression

Gene Expression

Tissue expression of SRI:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
TGCTGGATAGAGATATGTCTGG
59
GTTGTCTCCAGCCATTCAG
59
CTGACAACAATGGGATTTAGG
57
AGGTGATCTTTCCATTGGTG
58
CTTCAACTCAAGATGCAGTATGG
60
GTAACCATACAGCGGATCCT
59
TTGCTGGAGGATACAAACCT
59
TTGTGCCAGACATATCTCTATCC
59
TGCTGGATAGAGATATGTCTGG
59
GTTGTCTCCAGCCATTCAG
59
GGCTTATGGTTTCAATGCTG
58
TTGAATTCACAGCCCAGAG
58
TGCTGGATAGAGATATGTCTGG
59
GTTGTCTCCAGCCATTCAG
59
TACTTTGCTGCTGTAGCTG
58
GACGAACAAGTTTGTATCCTC
57
CTGTAGCTGGACAGGATGG
60
ATTGAAACCATAAGCCGGC
59
CTGTAGCTGGACAGGATGG
59
ATTGAAACCATAAGCCGGC
58

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of SRI (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for SRI:

GO ID
Protein
Source DB
GO:0005509
B4DHQ6 (UniProtKB)
IEA
GO:0005654
B4DHQ6 (UniProtKB)
IDA
GO:0005737
B4DHQ6 (UniProtKB)
IDA
GO:0005509
C9J0K6 (UniProtKB)
IEA
GO:0001508
P30626 (UniProtKB)
TAS
GO:0002020
P30626 (UniProtKB)
IPI
GO:0004198
P30626 (UniProtKB)
IBA
GO:0005102
P30626 (UniProtKB)
TAS
GO:0005246
P30626 (UniProtKB)
TAS
GO:0005509
P30626 (UniProtKB)
IDA
GO:0005515
P30626 (UniProtKB)
IPI
GO:0005515
P30626 (UniProtKB)
IPI
GO:0005515
P30626 (UniProtKB)
IPI
GO:0005515
P30626 (UniProtKB)
IPI
GO:0005515
P30626 (UniProtKB)
IPI
GO:0005515
P30626 (UniProtKB)
IPI
GO:0005515
P30626 (UniProtKB)
IPI
GO:0005515
P30626 (UniProtKB)
IPI
GO:0005515
P30626 (UniProtKB)
IPI
GO:0005654
P30626 (UniProtKB)
IDA
GO:0005737
P30626 (UniProtKB)
IDA
GO:0005737
P30626 (UniProtKB)
TAS
GO:0005739
P30626 (UniProtKB)
IEA
GO:0005789
P30626 (UniProtKB)
IDA
GO:0005790
P30626 (UniProtKB)
IEA
GO:0005829
P30626 (UniProtKB)
IDA
GO:0006508
P30626 (UniProtKB)
IBA
GO:0006810
P30626 (UniProtKB)
TAS
GO:0006816
P30626 (UniProtKB)
IEA
GO:0006880
P30626 (UniProtKB)
TAS
GO:0006942
P30626 (UniProtKB)
TAS
GO:0007165
P30626 (UniProtKB)
TAS
GO:0007507
P30626 (UniProtKB)
IEA
GO:0007517
P30626 (UniProtKB)
TAS
GO:0008016
P30626 (UniProtKB)
TAS
GO:0010459
P30626 (UniProtKB)
IMP
GO:0010649
P30626 (UniProtKB)
TAS
GO:0010880
P30626 (UniProtKB)
TAS
GO:0016020
P30626 (UniProtKB)
IDA
GO:0016020
P30626 (UniProtKB)
IDA
GO:0016529
P30626 (UniProtKB)
TAS
GO:0030018
P30626 (UniProtKB)
IDA
GO:0030315
P30626 (UniProtKB)
TAS
GO:0033017
P30626 (UniProtKB)
IEA
GO:0035774
P30626 (UniProtKB)
IEA
GO:0042802
P30626 (UniProtKB)
IPI
GO:0042994
P30626 (UniProtKB)
IEA
GO:0043679
P30626 (UniProtKB)
IEA
GO:0044325
P30626 (UniProtKB)
TAS
GO:0044326
P30626 (UniProtKB)
IEA
GO:0046982
P30626 (UniProtKB)
IPI
GO:0051281
P30626 (UniProtKB)
IEA
GO:0051924
P30626 (UniProtKB)
IMP
GO:0051924
P30626 (UniProtKB)
IMP
GO:0060315
P30626 (UniProtKB)
IDA
GO:0070062
P30626 (UniProtKB)
IDA
GO:0070062
P30626 (UniProtKB)
IDA
GO:0070062
P30626 (UniProtKB)
IDA
GO:0070062
P30626 (UniProtKB)
IDA
GO:0070062
P30626 (UniProtKB)
IDA
GO:0070491
P30626 (UniProtKB)
IEA
GO:0086004
P30626 (UniProtKB)
IMP
GO:0086004
P30626 (UniProtKB)
IMP
GO:1901077
P30626 (UniProtKB)
IMP
GO:1901841
P30626 (UniProtKB)
IMP
GO:1901844
P30626 (UniProtKB)
IMP
GO:2000678
P30626 (UniProtKB)
IEA
GO:0042584
P30626 (UniProtKB)
IDA

Related microRNA

Related microRNA

microRNAs potentially regulating SRI:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Heart failure 0.080271442 3 0 BeFree_RGD
Leukemia, Myelocytic, Acute 0.006534468 4 0 BeFree_LHGDN
leukemia 0.003538676 4 0 BeFree_LHGDN
Severe congenital neutropenia 0.001085767 4 0 BeFree
Congenital neutropenia 0.001085767 4 0 BeFree
Osteochondritis Dissecans 0.000542884 2 0 BeFree
Obsessive-Compulsive Disorder 0.000542884 2 0 BeFree
Cardiomyopathies 0.000542884 2 0 BeFree
Inherited neuropathies 0.000271442 1 0 BeFree
Acute Erythroblastic Leukemia 0.000271442 1 0 BeFree

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