ASTN1 (astrotactin 1)

基因基本信息

基因基本信息

symbol:
ASTN1
locus group:
protein-coding gene
location:
1q25.2
gene_family:
alias symbol:
None
alias name:
None
entrez id:
460
ensembl gene id:
ENSG00000152092
ucsc gene id:
uc001glc.5
refseq accession:
NM_004319
hgnc_id:
HGNC:773
approved reserved:
1996-08-12

基因染色体位置

基因染色体位置

1q25.2

基因简述

基因简述

ASTN1（astrotactin 1）是一个编码跨膜蛋白的基因，主要在中枢神经系统的发育过程中发挥关键作用。它属于astrotactin基因家族，该家族成员（如ASTN1和ASTN2）的共同特点是参与神经元迁移和突触形成，尤其在脑发育期间调控神经细胞的精确定位。ASTN1蛋白通过与神经元表面的受体和细胞外基质相互作用，帮助引导神经元沿着放射状胶质细胞的纤维迁移到正确位置。该基因的突变或功能异常可能导致神经元迁移障碍，与多种神经发育疾病相关，如自闭症谱系障碍（ASD）、智力障碍和精神分裂症。研究发现，ASTN1的突变可能破坏神经元迁移路径，导致大脑皮层结构异常，进而影响认知和行为功能。当ASTN1过表达时，可能引起神经元迁移过度或错位，扰乱神经环路形成；而降低表达则可能导致迁移停滞或方向错误，同样影响大脑的正常发育。ASTN1还与其他神经发育相关基因（如RELN和DCX）存在功能协同，共同调控皮层分层。此外，ASTN1在成年大脑中仍有表达，可能参与突触可塑性和神经修复过程。该基因的异常表达或突变已被多个全基因组关联研究（GWAS）列为神经精神疾病的潜在风险因素，尤其在儿童期发病的神经发育障碍中表现突出。astrotactin家族蛋白通常含有多个保守的功能域，如EGF样重复序列和跨膜区，这些结构域对细胞黏附和信号传导至关重要。

中文English

None

OMIM数据库中对ASTN1基因的介绍     Wikipedia数据库中对ASTN1基因的介绍

基因序列

基因序列

ASTN1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
1MALAGLCALL ACCWGPAAVL ATAAGDVDPS KELECKLKSI
41TVSALPFLRE NDLSIMHSPS ASEPKLLFSV RNDFPGEMVV
81 VDDLENTEL PYFVLEISGN TEDIPLVRWR QQWLENGTLL
121FHIHHQDGAP SLPGQDPTEE PQHESAEEEL RILHISVMGG
161M IALLLSIL CLVMILYTRR RWCKRRRVPQ PQKSASAEAA
201NEIHYIPSVL IGGHGRESLR NARVQGHNSS GTLSIRETPI
241LD GYEYDIT DLRHHLQREC MNGGEDFASQ VTRTLDSLQG
281CNEKSGMDLT PGSDNAKLSL MNKYKDNIIA TSPVDSNHQQ
321ATL LSHTSS SQRKRINNKA RAGSAFLNPE GDSGTEAEND
361PQLTFYTDPS RSRRRSRVGS PRSPVNKTTL TLISITSCVI
401GLVC SSHVN CPLVVKITLH VPEHLIADGS RFILLEGSQL
441DASDWLNPAQ VVLFSQQNSS GPWAMDLCAR RLLDPCEHQC
481DPETG RREH RAAGECLCYE GYMKDPVHKH LCIRNEWGTN
521QGPWPYTIFQ RGFDLVLGEQ PSDKIFRFTY TLGEGMWLPL
561SKSFVI PPA ELAINPSAKC KTDMTVMEDA VEVREELMTS
601SSFDSLEVLL DSFGPVRDCS KDNGGCSKNF RCISDRKLDS
641TGCVCPS GL SPMKDSSGCY DRHIGVDCSD GFNGGCEQLC
681LQQMAPFPDD PTLYNILMFC GCIEDYKLGV DGRSCQLITE
721TCPEGSDC G ESRELPMNQT LFGEMFFGYN NHSKEVAAGQ
761VLKGTFRQNN FARGLDQQLP DGLVVATVPL ENQCLEEISE
801PTPDPDFLT GMVNFSEVSG YPVLQHWKVR SVMYHIKLNQ
841VAISQALSNA LHSLDGATSR ADFVALLDQF GNHYIQEAIY
881GFEESCSIWY PNKQVQRRL WLEYEDISKG NSPSDESEER
921ERDPKVLTFP EYITSLSDSG TKHMAAGVRM ECHSKGRCPS
961SCPLCHVTSS P DTPAEPVL LEVTKAAPIY ELVTNNQTQR
1001LLQEATMSSL WCSGTGDVIE DWCRCDSTAF GADGLPTCAP
1041LPQPVLRLST VH EPSSTLV VLEWEHSEPP IGVQIVDYLL
1081RQEKVTDRMD HSKVETETVL SFVDDIISGA KSPCAMPSQV
1121PDKQLTTISL IIR CLEPDT IYMFTLWGVD NTGRRSRPSD
1161VIVKTPCPVV DDVKAQEIAD KIYNLFNGYT SGKEQQTAYN
1201TLLDLGSPTL HRVL YHYNQ HYESFGEFTW RCEDELGPRK
1241AGLILSQLGD LSSWCNGLLQ EPKISLRRSS LKYLGCRYSE
1281IKPYGLDWAE LSRDL RKTC EEQTLSIPYN DYGDSKEI
结构预测来自 AlphaFold DB（UniProt: O14525），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

ASTN1基因的碱基突变：           仅显示部分snp
rs21257       rs170570       rs170592       rs172901       rs172917       rs186618       rs189005       rs227501       rs227502       rs227503       rs227504       rs227505       rs227506       rs227507       rs227508       rs227509       rs227510      

基因表达

基因表达

ASTN1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
CAGATTGTAGATTACCTCCTCC
58
CAGCACTGTTTCTGTCTCC
59
CACTATAACCAGCACTATGAGAG
58
GATGAGACCAGCTTTCCTG
58
TTCGTGCTGGAGATCTCAG
59
GCAAAGTGCCATTCTCCAG
60
CAGATTGTAGATTACCTCCTCC
58
CAGCACTGTTTCTGTCTCC
59
GATTGCTGATGAACTCCAGC
59
CACATTGGTGTTCACAGGG
59
ACAACAAAGCAAGAGCTGG
59
CCTGCTCCTTGAAGGATCC
60
AGGCTACATGAAGGATCCAG
59
ATTCAGTTCACTGTGCCCT
59
CTTCCTGACTGGGATGGTG
60
GTACATCACAGACCGGACC
60
TTAGGTCCCAGGAAAGCTG
59
TTGGGTTCCTGAAGGAGTC
59
CAACAAAGCAAGAGCTGGT
59
CCTGCTCCTTGAAGGATCC
60

转录因子

转录因子

      尚未收录相关数据

基因本体信息

ASTN1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

ASTN1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0016021
B1AJS1 (UniProtKB)
IEA
GO:0001764
O14525 (UniProtKB)
IEA
GO:0005575
O14525 (UniProtKB)
ND
GO:0005768
O14525 (UniProtKB)
IEA
GO:0007158
O14525 (UniProtKB)
IEA
GO:0007626
O14525 (UniProtKB)
IEA
GO:0009897
O14525 (UniProtKB)
IEA
GO:0016021
O14525 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 ASTN1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
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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
Tobacco Use Disorder 0.004734064 2 0 GAD
Schizophrenia 0.002638474 2 0 BeFree_GAD
Alcoholic Intoxication, Chronic 0.000271442 1 0 BeFree
Substance abuse problem 0.000271442 1 0 BeFree

基因相关文献

基因相关文献

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.
Levine JM, Calame DG, Sangermano R, Du H, Saad A, Lisfeld J, Bierhals T, Denecke J, Uctepe E, Celik MY, Yesilyurt A, Yildiz Er H, Yilmaz Gulec E, Mushiba A, Almontashiri N, Gawlinski P, Wiszniewski W, Karaca E, Alabdi L, Pehlivan D, Marafi D, Zaki MS, Alkuraya FS, Gleeson JG, Jhangiani SN, Gibbs RA, Posey JE, Bujakowska KM, Lupski JR Am J Hum Genet IF: 7.7 2026-02-05
Long-Term Follow-Up of a Patient with a Novel Homozygous ASTN1 Variant: A Case Report.
Kasap B, Uludağ Alkaya D, Güneş N, Türk S, Korkmaz B, Tüysüz B Neurol Int IF: nan 2026-04-19
Genetic variants associated with chronic postsurgical pain: evidence from the China Surgery and Anaesthesia Cohort study.
Song J, Zhang Y, Zeng H, Dong Y, Chen W, Yang L, Zeng Y, Yang H, Liu L, Wen S, Luo J, Gong Y, Hou C, Ke B, Song H, Li Q Br J Anaesth IF: 10.3 2025-11-00
Towards unraveling the human tooth transcriptome: the dentome.
Hu Shijia, Parker Joel, Wright John Timothy PLoS One IF: 2.6 2016-04-05
Pappa2 is linked to salt-sensitive hypertension in Dahl S rats.
Cowley Allen W, Yang Chun, Kumar Vikash, Lazar Jozef, Jacob Howard, Geurts Aron M, Liu Pengyuan, Dayton Alex, Kurth Theresa, Liang Mingyu Physiol Genomics IF: 2.5 2016-10-05
Long noncoding RNA HOTAIR is relevant to cellular proliferation, invasiveness, and clinical relapse in small-cell lung cancer.
Ono Hiroshi, Motoi Noriko, Nagano Hiroko, Miyauchi Eisaku, Ushijima Masaru, Matsuura Masaaki, Okumura Sakae, Nishio Makoto, Hirose Tetsuro, Inase Naohiko, Ishikawa Yuichi Cancer Med IF: 3.5 2015-02-12
Expression and clinical significance of genes frequently mutated in small cell lung cancers defined by whole exome/RNA sequencing.
Iwakawa Reika, Kohno Takashi, Totoki Yasushi, Shibata Tatsuhiro, Tsuchihara Katsuya, Mimaki Sachiyo, Tsuta Koji, Narita Yoshitaka, Nishikawa Ryo, Noguchi Masayuki, Harris Curtis C, Robles Ana I, Yamaguchi Rui, Imoto Seiya, Miyano Satoru, Totsuka Hirohiko, Yoshida Teruhiko, Yokota Jun Carcinogenesis IF: 3.8 2015-08-24
Characterization of biological pathways associated with a 1.37 Mbp genomic region protective of hypertension in Dahl S rats.
Cowley Allen W, Moreno Carol, Jacob Howard J, Peterson Christine B, Stingo Francesco C, Ahn Kwang Woo, Liu Pengyuan, Vannucci Marina, Laud Purushottam W, Reddy Prajwal, Lazar Jozef, Evans Louise, Yang Chun, Kurth Theresa, Liang Mingyu Physiol Genomics IF: 2.5 2015-01-13
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Lionel Anath C, Tammimies Kristiina, Vaags Andrea K, Rosenfeld Jill A, Ahn Joo Wook, Merico Daniele, Noor Abdul, Runke Cassandra K, Pillalamarri Vamsee K, Carter Melissa T, Gazzellone Matthew J, Thiruvahindrapuram Bhooma, Fagerberg Christina, Laulund Lone W, Pellecchia Giovanna, Lamoureux Sylvia, Deshpande Charu, Clayton-Smith Jill, White Ann C, Leather Susan, Trounce John, Melanie Bedford H, Hatchwell Eli, Eis Peggy S, Yuen Ryan K C, Walker Susan, Uddin Mohammed, Geraghty Michael T, Nikkel Sarah M, Tomiak Eva M, Fernandez Bridget A, Soreni Noam, Crosbie Jennifer, Arnold Paul D, Schachar Russell J, Roberts Wendy, Paterson Andrew D, So Joyce, Szatmari Peter, Chrysler Christina, Woodbury-Smith Marc, Brian Lowry R, Zwaigenbaum Lonnie, Mandyam Divya, Wei John, Macdonald Jeffrey R, Howe Jennifer L, Nalpathamkalam Thomas, Wang Zhuozhi, Tolson Daniel, Cobb David S, Wilks Timothy M, Sorensen Mark J, Bader Patricia I, An Yu, Wu Bai-Lin, Musumeci Sebastiano Antonino, Romano Corrado, Postorivo Diana, Nardone Anna M, Monica Matteo Della, Scarano Gioacchino, Zoccante Leonardo, Novara Francesca, Zuffardi Orsetta, Ciccone Roberto, Antona Vincenzo, Carella Massimo, Zelante Leopoldo, Cavalli Pietro, Poggiani Carlo, Cavallari Ugo, Argiropoulos Bob, Chernos Judy, Brasch-Andersen Charlotte, Speevak Marsha, Fichera Marco, Ogilvie Caroline Mackie, Shen Yiping, Hodge Jennelle C, Talkowski Michael E, Stavropoulos Dimitri J, Marshall Christian R, Scherer Stephen W Hum Mol Genet IF: 3.1 2014-12-03

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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