SPTA1 (spectrin alpha, erythrocytic 1)

基因基本信息

基因基本信息

symbol:
SPTA1
locus group:
protein-coding gene
location:
1q23.1
gene_family:
EF-hand domain containing
alias symbol:
EL2
alias name:
elliptocytosis 2
entrez id:
6708
ensembl gene id:
ENSG00000163554
ucsc gene id:
uc001fst.2
refseq accession:
NM_003126
hgnc_id:
HGNC:11272
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

1q23.1

基因简述

基因简述

SPTA1（Spectrin Alpha 1）是编码血影蛋白α链的基因，属于血影蛋白（Spectrin）基因家族。该家族成员（如SPTA1、SPTB等）主要参与细胞骨架的形成，维持细胞形态和机械稳定性，尤其在红细胞中与膜蛋白（如锚蛋白、带3蛋白）结合形成网状结构，保障红细胞的柔韧性和抗剪切能力。SPTA1的表达产物α-血影蛋白与β-血影蛋白结合形成异源二聚体，进一步组装为四聚体，构成红细胞膜骨架的核心框架。其作用位点集中在细胞膜内侧，通过连接肌动蛋白和跨膜蛋白，稳定细胞膜并调节膜流动性。若SPTA1发生突变（如HE（Hereditary Elliptocytosis）或HS（Hereditary Spherocytosis）相关突变），会导致α-血影蛋白结构异常或结合能力下降，引发红细胞形态改变（椭圆形或球形）、脆性增加，最终导致溶血性贫血。此外，SPTA1突变还与神经发育障碍（如智力障碍或共济失调）相关，因血影蛋白在神经元中同样参与细胞骨架调控。若SPTA1过表达，可能干扰红细胞骨架平衡，影响变形能力；而表达降低则直接削弱膜稳定性，加剧溶血风险。该基因家族共性为编码α或β亚基，形成柔性链状结构，通过钙离子依赖的自我关联实现动态组装，广泛参与细胞形态维持、膜域组织及信号传导。目前中文术语“血影蛋白”为Spectrin的通用译名，无显著争议。

中文English

血影是一种肌动蛋白交联和分子支架蛋白的质膜链接到肌动蛋白细胞骨架，和功能在细胞形状，跨膜蛋白的结构，以及细胞器组织的确定。它是在一个头 - 头装置相连的α-β二聚体组成的四聚体。该基因是一个家庭的阿尔法 - 血影的基因中的一员。所编码的蛋白质主要是由所涉及在二聚体形成22血影重复。它形成比非红细胞血影阿尔法弱四聚体的相互作用，这可能会增加红血细胞的质膜的弹性和可变形性。突变在该基因的结果在各种遗传性红细胞疾病，包括elliptocytosis 2型，pyropoikilocytosis和球形红细胞溶血性贫血。 [由RefSeq的，2008年7月提供]

OMIM数据库中对SPTA1基因的介绍     Wikipedia数据库中对SPTA1基因的介绍

基因序列

基因序列

SPTA1基因的碱基序列：[NCBI]
Loading Gene Browser...

编码蛋白质

编码蛋白质

蛋白质序列
1MEQFPKETVV ESSGPKVLET AEEIQERRQE VLTRYQSFKE
41RVAERGQKLE DSYHLQVFKR DADDLGKWIM EKVNILTDKS
81 YEDPTNIQG KYQKHQSLEA EVQTKSRLMS ELEKTREERF
121TMGHSAHEET KAHIEELRHL WDLLLELTLE KGDQLLRALK
161F QQYVQECA DILEWIGDKE AIATSVELGE DWERTEVLHK
201KFEDFQVELV AKEGRVVEVN QYANECAEEN HPDLPLIQSK
241QN EVNAAWE RLRGLALQRQ KALSNAANLQ RFKRDVTEAI
281QWIKEKEPVL TSEDYGKDLV ASEGLFHSHK GLERNLAVMS
321DKV KELCAK AEKLTLSHPS DAPQIQEMKE DLVSSWEHIR
361ALATSRYEKL QATYWYHRFS SDFDELSGWM NEKTAAINAD
401ELPT DVAGG EVLLDRHQQH KHEIDSYDDR FQSADETGQD
441LVNANHEASD EVREKMEILD NNWTALLELW DERHRQYEQC
481LDFHL FYRD SEQVDSWMSR QEAFLENEDL GNSLGSAEAL
521LQKHEDFEEA FTAQEEKIIT VDKTATKLIG DDHYDSENIK
561AIRDGL LAR RDALREKAAT RRRLLKESLL LQKLYEDSDD
601LKNWINKKKK LADDEDYKDI QNLKSRVQKQ QVFEKELAVN
641KTQLENI QK TGQEMIEGGH YASDNVTTRL SEVASLWEEL
681LEATKQKGTQ LHEANQQLQF ENNAEDLQRW LEDVEWQVTS
721EDYGKGLA E VQNRLRKHGL LESAVAARQD QVDILTDLAA
761YFEEIGHPDS KDIRARQESL VCRFEALKEP LATRKKKLLD
801LLHLQLICR DTEDEEAWIQ ETEPSATSTY LGKDLIASKK
841LLNRHRVILE NIASHEPRIQ EITERGNKMV EEGHFAAEDV
881ASRVKSLNQN MESLRARAA RRQNDLEANV QFQQYLADLH
921EAETWIREKE PIVDNTNYGA DEEAAGALLK KHEAFLLDLN
961SFGDSMKALR N QANACQQQ QAAPVEGVAG EQRVMALYDF
1001QARSPREVTM KKGDVLTLLS SINKDWWKVE AADHQGIVPA
1041VYVRRLAHDE FP MLPQRRR EEPGNITQRQ EQIENQYRSL
1081LDRAEERRRR LLQRYNEFLL AYEAGDMLEW IQEKKAENTG
1121VELDDVWELQ KKF DEFQKD LNTNEPRLRD INKVADDLLF
1161EGLLTPEGAQ IRQELNSRWG SLQRLADEQR QLLGSAHAVE
1201VFHREADDTK EQIE KKCQA LSAADPGSDL FSVQALQRRH
1241EGFERDLVPL GDKVTILGET AERLSESHPD ATEDLQRQKM
1281ELNEAWEDLQ GRTKD RKES LNEAQKFYLF LSKARDLQNW
1321ISSIGGMVSS QELAEDLTGI EILLERHQEH RADMEAEAPT
1361FQALEDFSAE LIDSGH HAS PEIEKKLQAV KLERDDLEKA
1401WEKRKKILDQ CLELQMFQGN CDQVESWMVA RENSLRSDDK
1441SSLDSLEALM KKRDDLD KA ITAQEGKITD LEHFAESLIA
1481DEHYAKEEIA TRLQRVLDRW KALKAQLIDE RTKLGDYANL
1521KQFYRDLEEL EEWISEML P TACDESYKDA TNIQRKYLKH
1561QTFAHEVDGR SEQVHGVINL GNSLIECSAC DGNEEAMKEQ
1601LEQLKEHWDH LLERTNDKG KKLNEASRQQ RFNTSIRDFE
1641FWLSEAETLL AMKDQARDLA SAGNLLKKHQ LLEREMLARE
1681DALKDLNTLA EDLLSSGTFN VDQIVKKKD NVNKRFLNVQ
1721ELAAAHHEKL KEAYALFQFF QDLDDEESWI EEKLIRVSSQ
1761DYGRDLQGVQ NLLKKHKRLE G ELVAHEPA IQNVLDMAEK
1801LKDKAAVGQE EIQLRLAQFV EHWEKLKELA KARGLKLEES
1841LEYLQFMQNA EEEEAWINEK NA LAVRGDC GDTLAATQSL
1881LMKHEALEND FAVHETRVQN VCAQGEDILN KVLQEESQNK
1921EISSKIEALN EKTPSLAKAI AAW KLQLED DYAFQEFNWK
1961ADVVEAWIAD KETSLKTNGN GADLGDFLTL LAKQDTLDAS
2001LQSFQQERLP EITDLKDKLI SAQH NQSKA IEERYAALLK
2041RWEQLLEASA VHRQKLLEKQ LPLQKAEDLF VEFAHKASAL
2081NNWCEKMEEN LSEPVHCVSL NEIRQ LQKD HEDFLASLAR
2121AQADFKCLLE LDQQIKALGV PSSPYTWLTV EVLERTWKHL
2161SDIIEEREQE LQKEEARQVK NFEMCQ EFE QNASTFLQWI
2201LETRAYFLDG SLLKETGTLE SQLEANKRKQ KEIQAMKRQL
2241TKIVDLGDNL EDALILDIKY STIGLAQ QW DQLYQLGLRM
2281QHNLEQQIQA KDIKGVSEET LKEFSTIYKH FDENLTGRLT
2321HKEFRSCLRG LNYYLPMVEE DEHEPKFE K FLDAVDPGRK
2361GYVSLEDYTA FLIDKESENI KSSDEIENAF QALAEGKSYI
2401TKEDMKQALT PEQVSFCATH MQQYMDPRG RSHLSGYDYV
2441GFTNSYFGN
结构预测来自 AlphaFold DB（UniProt: P02549），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

SPTA1基因的碱基突变：           仅显示部分snp
rs1616       rs1619       rs12601       rs90078       rs167818       rs226774       rs325993       rs325994       rs325995       rs325996       rs325997       rs325998       rs365037       rs366221       rs368029       rs378557       rs378794      

基因表达

基因表达

SPTA1基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
TACTACTTGCCCATGGTGG
59
TGAGACATAGCCCTTCCTC
58
CACCATTGGATTGGCTCAG
59
CTTTGATGTCCTTGGCCTG
59
CAAAGGAAACCGTTGTGGA
59
GAGTCAACACTTCCTGACG
58
AGCTCTACCACTTTCTGGC
59
CAGAATGACACTTGCTCTGG
59
AAGAGGATCATAGGTTCAAGTC
57
TAAGGGCCAGTGGTTACAC
59
AATGACTTTGCTGTCCATGAG
59
CTCCTGCAACACCTTATTTAGG
59
CTTTCTGGATGGATCATTGCT
59
TTAGTTGACGCTTCATCGC
59
AGAGACACAGAGGATGAGGA
59
AATCAGGTCCTTTCCAAGGT
59
TACTACTTGCCCATGGTGG
59
TGAGACATAGCCCTTCCTC
58
GAAGAAGCTCAATGAGGCC
59
ATGTCTCTGCCTCTGAGAG
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

SPTA1基因（以及对应的蛋白质）的细胞分布位置：

[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
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

SPTA1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005509
A0A087WZE4 (UniProtKB)
IEA
GO:0000165
P02549 (UniProtKB)
TAS
GO:0002260
P02549 (UniProtKB)
IEA
GO:0005088
P02549 (UniProtKB)
TAS
GO:0005200
P02549 (UniProtKB)
TAS
GO:0005509
P02549 (UniProtKB)
IEA
GO:0005515
P02549 (UniProtKB)
IPI
GO:0005515
P02549 (UniProtKB)
IPI
GO:0005515
P02549 (UniProtKB)
IPI
GO:0005515
P02549 (UniProtKB)
IPI
GO:0005829
P02549 (UniProtKB)
TAS
GO:0005829
P02549 (UniProtKB)
TAS
GO:0005829
P02549 (UniProtKB)
TAS
GO:0005829
P02549 (UniProtKB)
TAS
GO:0005829
P02549 (UniProtKB)
TAS
GO:0005829
P02549 (UniProtKB)
TAS
GO:0005829
P02549 (UniProtKB)
TAS
GO:0005829
P02549 (UniProtKB)
TAS
GO:0005829
P02549 (UniProtKB)
TAS
GO:0005829
P02549 (UniProtKB)
TAS
GO:0005829
P02549 (UniProtKB)
TAS
GO:0005829
P02549 (UniProtKB)
TAS
GO:0005829
P02549 (UniProtKB)
TAS
GO:0006779
P02549 (UniProtKB)
IEA
GO:0006888
P02549 (UniProtKB)
TAS
GO:0007009
P02549 (UniProtKB)
IEA
GO:0007015
P02549 (UniProtKB)
TAS
GO:0007411
P02549 (UniProtKB)
TAS
GO:0008091
P02549 (UniProtKB)
IEA
GO:0008360
P02549 (UniProtKB)
IEA
GO:0014731
P02549 (UniProtKB)
IDA
GO:0015629
P02549 (UniProtKB)
TAS
GO:0030097
P02549 (UniProtKB)
IEA
GO:0031235
P02549 (UniProtKB)
TAS
GO:0032092
P02549 (UniProtKB)
IEA
GO:0032437
P02549 (UniProtKB)
IEA
GO:0042102
P02549 (UniProtKB)
IEA
GO:0043547
P02549 (UniProtKB)
IEA
GO:0046982
P02549 (UniProtKB)
IEA
GO:0051015
P02549 (UniProtKB)
TAS
GO:0051693
P02549 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 SPTA1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

BioGrid
IntAct
mentha
MINT
Reactome
加载中…
关联基因 作用方式 资源库来源/分值

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
ELLIPTOCYTOSIS 2 (disorder) 0.36 11 15 CLINVAR_CTD_human_UNIPROT
Hereditary pyropoikilocytosis 0.36 2 6 CLINVAR_CTD_human_UNIPROT
SPHEROCYTOSIS, TYPE 3 (disorder) 0.32 0 0 CLINVAR_CTD_human_MGD
Elliptocytosis, Hereditary 0.121357209 5 0 BeFree_ORPHANET
Hereditary spherocytosis 0.120542884 2 0 BeFree_ORPHANET
Anemia, hereditary spherocytic hemolytic 0.12 0 0 ORPHANET
SPHEROCYTOSIS, TYPE 1 (disorder) 0.080542884 2 0 BeFree_MGD
Anemia, Sickle Cell 0.08 0 0 MGD
Anemia, Hemolytic 0.0054487 2 0 LHGDN
beta Thalassemia 0.00272435 1 0 LHGDN

基因相关文献

基因相关文献

In-depth analysis of osmotic gradient ektacytometry parameters across different genotypes in hereditary spherocytosis.
de Wilde JRA, Kuppens GZL, Boesveld ME, van Vuren AJ, van Solinge WW, Waanders E, van Beers EJ, Rab MAE, Bartels M, van Wijk R Br J Haematol IF: 3.6 2026-05-00
Molecular characteristics of proximal and distal esophagogastric junction adenocarcinoma.
Qin X, Xu L, Wang X, Qi Y, Zhong W, Shang B, Wang Z, Chen G J Thorac Dis IF: 2.3 2026-03-31
Integrated Liquid Biopsy and Tumor Tissue Genomic Profiling of Appendiceal Cancer: cfDNA Burden, Mutation Landscapes, and Clinical Outcomes.
Patel S, Petrosko P, Gallo PH, Myers M, Gil L, Nolan EJ, Hosseiny SH, Blodgett R, Omstead A, Park H, Dalton E, Sherry C, Goel A, Allen CJ, Zaidi A, Schwartz R, Bartlett DL, Wagner PL, LaFramboise WA Ann Surg Oncol IF: 3.8 2026-07-00
Hereditary Anemias as a Monogenic Etiology for Nonimmune Hydrops Fetalis.
Makhamreh MM, Rice SM, Shivashankar K, Brewer CJ, McLaren RA, Berger SI, Al-Kouatly HB Clin Ther IF: 3.7 2026-07-00
Clinicohematological and Genetic Profile of Hereditary Spherocytosis in Children: An Experience From a North Indian Center.
Chakraborty A, Kalra M, Sachdeva A, Kotwal J, Langer S, Saraf A, Rana P, Dahiya S, Arya V, Aggarwal S, Prasad A J Pediatr Hematol Oncol 2026-07-01
Statistical association of complete PYHIN gene family loss with flight and inverted roosting in bats.
Ziemann C, Streicher M, Sicks A, Zhang C, Zhang L Front Immunol IF: 7.0 None
Hereditary Spherocytosis: A Case Series Spanning Prenatal Detection to Neonatal Care.
Smith CM, Dinu AM, Hintz SR, Minor KC, Foley K, Weigel N, Glader BE, Blumenfeld YJ Prenat Diagn IF: 3.1 2026-05-23
Severe Hemolytic Phenotype in Children With Sickle Cell Anemia and Co-Inherited Red Blood Cell Variants.
Srinivas M, Jaspersen S, Wilson DB, Hulbert ML Pediatr Blood Cancer IF: 2.4 2025-10-00

基因相关服务

基因相关服务

基因相关评论

基因相关评论

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