HBS1L基因详情-基因数据库-基因云馆

HBS1L (HBS1 like translational GTPase)

symbol:: HBS1L
locus group:: protein-coding gene
location:: 6q23.3
gene_family:
alias symbol:: ERFS|HBS1|HSPC276|KIAA1038|DKFZp434g247|EF-1a|eRF3c
alias name:: eRF3 family member
entrez id:: 10767
ensembl gene id:: ENSG00000112339
ucsc gene id:: uc003qez.4
refseq accession:: NM_001145158
hgnc_id:: HGNC:4834
approved reserved:: 2000-02-18

6q23.3

HBS1L（HBS1 Like Translational GTPase）基因属于HBS1基因家族，该家族成员在进化上高度保守，主要参与蛋白质翻译调控和mRNA质量控制。HBS1L编码一种GTP结合蛋白，与真核生物释放因子eRF3结构相似，在核糖体相关功能中起重要作用。该基因在哺乳动物中广泛表达，尤其在造血组织中表达较高。HBS1L蛋白通过与伴侣蛋白PELO（DOM34）形成复合物，参与无义介导的mRNA降解（NMD）途径，负责识别和清除含有提前终止密码子的异常mRNA，防止产生截短的有害蛋白。此外，HBS1L-PELO复合物还在核糖体拯救途径中发挥作用，当翻译停滞时帮助释放核糖体。HBS1L基因的突变或表达异常与多种疾病相关，特别是与胎儿血红蛋白（HbF）水平的遗传调控密切相关。全基因组关联研究发现HBS1L-MYB基因间区的多态性与HbF水平显著相关，这些遗传变异通过影响HBS1L和MYB基因的表达来调节γ-珠蛋白基因的表达，从而影响HbF水平。在β-血红蛋白病如镰状细胞贫血和β-地中海贫血患者中，HBS1L相关变异导致的HbF水平升高可减轻疾病症状。HBS1L过表达可能增强NMD途径效率，但过度激活可能导致正常mRNA被错误降解；而表达降低则可能损害mRNA质量控制，导致异常蛋白积累。HBS1L还与癌症发展相关，在某些肿瘤中表达异常。HBS1L基因家族成员均含有GTPase结构域，具有GTP结合和水解活性，在翻译调控和mRNA监控中发挥核心作用。该家族蛋白通常与其他因子形成复合物发挥作用，在进化上从酵母到人类都高度保守，表明其功能的重要性。

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OMIM数据库中对HBS1L基因的介绍 Wikipedia数据库中对HBS1L基因的介绍

HBS1L基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MARHRNVRGY NYDEDFEDDD LYGQSVEDDY CISPSTAAQF
41IYSRRDKPSV EPVEEYDYED LKESSNSVSN HQLSGFDQAR
81
LYSCLDHMR EVLGDAVPDE ILIEAVLKNK FDVQKALSGV
121LEQDRVQSLK DKNEATVSTG KIAKGKPVDS QTSRSESEIV
161P
KVAKMTVS GKKQTMGFEV PGVSSEENGH SFHTPQKGPP
201IEDAIASSDV LETASKSANP PHTIQASEEQ SSTPAPVKKS
241GK
LRQQIDV KAELEKRQGG KQLLNLVVIG HVDAGKSTLM
281GHMLYLLGNI NKRTMHKYEQ ESKKAGKASF AYAWVLDETG
321EER
ERGVTM DVGMTKFETT TKVITLMDAP GHKDFIPNMI
361TGAAQADVAV LVVDASRGEF EAGFETGGQT REHGLLVRSL
401GVTQ
LAVAV NKMDQVNWQQ ERFQEITGKL GHFLKQAGFK
441ESDVGFIPTS GLSGENLITR SQSSELTKWY KGLCLLEQID
481SFKPP
QRSI DKPFRLCVSD VFKDQGSGFC ITGKIEAGYI
521QTGDRLLAMP PNETCTVKGI TLHDEPVDWA AAGDHVSLTL
561VGMDII
KIN VGCIFCGPKV PIKACTRFRA RILIFNIEIP
601ITKGFPVLLH YQTVSEPAVI KRLISVLNKS TGEVTKKKPK
641FLTKGQN
AL VELQTQRPIA LELYKDFKEL GRFMLRYGGS
681TIAAGVVTEI KE

结构预测来自 AlphaFold DB（UniProt: Q9Y450），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

HBS1L基因的碱基突变：仅显示部分snp

rs13064 rs949547 rs952674 rs978036 rs987690 rs997524 rs1014020 rs1014021 rs1023179 rs1041480 rs1041481 rs1135205 rs1135206 rs1139174 rs1590975 rs1854865 rs2150680

HBS1L基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

AGTGCCTGGAGTATCTTCTG

59

CATCGGAAGAAGCAATGGC

60

GCTTGCACTCGTTTCAGAG

60

GTGTAACAGCACAGGAAATCC

60

TGGATTTGATCAAGCTCGT

57

ACTTGTTCTTCAGAACTGCT

57

TCAGTGACCTTTCTCCCAG

58

TAAACTGAGCAGCTGTTGAC

58

TGGATTTGATCAAGCTCGT

57

ACTTGTTCTTCAGAACTGCT

57

GCAAATAGATGTGAAGGCG

57

TCAACATGACCAATGACCA

57

AGTGCCTGGAGTATCTTCTG

59

CATCGGAAGAAGCAATGGC

60

GTATTTCGCCGTCAACAGG

59

TCAGAAGATACTCCAGGCAC

59

TGGATTTGATCAAGCTCGT

57

ACTTGTTCTTCAGAACTGCT

57

TGTTCGAGGCTATAACTACGA

58

TAAACTGAGCAGCTGTTGAC

58

尚未收录相关数据

HBS1L基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

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

HBS1L基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0003924

B7Z524 (UniProtKB)

IEA

GO:0005525

B7Z524 (UniProtKB)

IEA

GO:0003924

E9PHZ9 (UniProtKB)

IEA

GO:0005525

E9PHZ9 (UniProtKB)

IEA

GO:0016021

E9PJ90 (UniProtKB)

IEA

GO:0003924

H0YDX7 (UniProtKB)

IEA

GO:0005525

H0YDX7 (UniProtKB)

IEA

GO:0003924

J3QT46 (UniProtKB)

IEA

GO:0005525

J3QT46 (UniProtKB)

IEA

GO:0003746

Q9Y450 (UniProtKB)

IEA

GO:0003924

Q9Y450 (UniProtKB)

IBA

GO:0005525

Q9Y450 (UniProtKB)

IEA

GO:0005622

Q9Y450 (UniProtKB)

IBA

GO:0006412

Q9Y450 (UniProtKB)

TAS

GO:0006414

Q9Y450 (UniProtKB)

IEA

GO:0007165

Q9Y450 (UniProtKB)

TAS

GO:0016020

Q9Y450 (UniProtKB)

IDA

GO:0032790

Q9Y450 (UniProtKB)

IBA

GO:0070062

Q9Y450 (UniProtKB)

IDA

可能调控 HBS1L基因的相关microRNA：

hsa-miR-32 hsa-miR-125b hsa-miR-130b* hsa-miR-218

String

BioGrid

IntAct

mentha

MINT

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关联基因	作用方式	资源库来源/分值

KEGG

名称
3015 mRNA surveillance pathway [PATH:hsa03015]
5134 Legionellosis [PATH:hsa05134]

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
Anemia, Sickle Cell	0.010282454	5	0	BeFree_GAD
beta Thalassemia	0.00764398	5	0	BeFree_GAD
alpha-Thalassemia	0.002638474	2	6	BeFree_GAD
Multiple Sclerosis	0.002367032	1	1	GAD
Hypertensive disease	0.002367032	1	0	GAD
Thalassemia	0.002367032	1	0	GAD
Finding of Mean Corpuscular Hemoglobin	0.002367032	1	1	GAD
Pain	0.002367032	1	0	GAD
Non-alcoholic Fatty Liver Disease	0.002367032	1	1	GAD
Hematocrit level	0.002367032	1	1	GAD

A genetic risk score based on BCL11A and HBS1L-MYB variants predicts clinical severity in Brazilian sickle cell anaemia patients.

Arcanjo GS, Silva AP, Diniz MV, Domingos IF, Pereira-Martins DA, Araújo AB, França TSS, Anjos AC, Araujo AS, Belini-Junior E, Saad STO, Costa FF, Lucena-Araujo AR, Bezerra MAC Br J Haematol IF: 3.6 2026-06-00

TNG961 is a selective oral HBS1L molecular glue degrader for the treatment of FOCAD-deleted cancers.

Nicholson HE, Whittington DA, Bruzzese FJ, Lazarides K, Martires LCM, Tonini MR, Jenkins HN, Zhang M, Shahagadkar P, Pratt CB, Briggs KJ, McCarren P, Tsai A, Bandi M, Min C, Huang A, Zhang H, Meier SR, Shen B, Yu Y, Liang C, Liu Y, Teng T, Zhang J, Crystal A, Mallender WD, Wu XE, Maxwell JP, Andersen JN Cancer Discov IF: 29.5 2026-04-19

Global genetic modifiers of fetal hemoglobin in sickle cell disease: Systematic review and meta-analysis.

Shende N, Athalye S, Kamath S, Rani P, Madkaikar M, Banerjee A, Khargekar N iScience 2026-09-18

Genetic dissection of clinical heterogeneity in hemoglobin H patients by targeted long-read sequencing.

Ye Y, Niu C, Mao A, Chen L, Qin L, Chen W, Liu Z, Xie T, Long Y, Shang X, Huang Y, Zhang Q, Chen L, Luo H, Li Y, Lu Y, Liu Y, Liao L, Cai J, Liu R, Zhang X, Zeng L, Li Y, Chen J, Zhong Z, Fang J, Li X, Yang X, Lin B, Li K, Hua X, Huang B, Qin H, Huang Y, Huang Z, Lao J, Qu X, Chen J, Feng X, Liu Q, Lin W, Zhou X, Liang Y, Long X, Qin J, Yan L, Zhu W, Yu L, Fan C, Tang D, Zhong T, Tan J, Ren Z, Gao Y, Xu X J Genet Genomics IF: 7.9 2026-04-24

Fetal Hemoglobin Modulation in Sickle Cell Disease: βs Haplotypes, Key Polymorphisms Identified by GWAS, and Advances in γ-Globin Editing: An Updated Overview.

Márquez-Benitez Y, Osorio-Garzón VI, Bernal-Villegas JE, Briceño-Balcázar I Genes (Basel) IF: 3.600 2026-01-27

Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.

Al-Subaie AM, Borgio JF J Clin Med 2026-02-09

Molecular genetics analysis of genes BCL11A, HBS1L-MYB, and HBG2 variants association in thalassemic children.

Lu R, Bashir K, Tayyaba Manzoor H, Imran A, Kashif M, Tabasum U, Saqim Nadeem I, Umar M, Alamin AA Per Med IF: 1.2 2026-09-08

Integrative analysis of the roles and prognostic value of RNA-binding proteins in papillary renal cell carcinoma.

Niu T, Li Q, Zhang A Discov Oncol 2026-06-19

BCL11A and HBS1L-MYB polymorphisms, in association with hydroxyurea and sex, modulate fetal hemoglobin levels in individuals with sickle cell anemia in the western region of Bahia, Brazil.

de Magalhães Filho MF, Santana ILR, da Silva PLP, Venancio LPR Mol Biol Rep IF: 3.2 2026-06-23

Genomic basis of developmental defects of enamel and sex-specific effects.

Shrestha P, Graff M, Gu Y, Wang Y, Ahn HS, Nguyen KN, Khanna A, Avery CL, Highland HM, Ginnis J, Simancas-Pallares MA, Ferreira Zandoná AG, Alotaibi RN, Lin DY, Preisser JS, Slade GD, Marazita ML, North KE, Divaris K medRxiv 2026-07-10

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HBS1L (HBS1 like translational GTPase)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

编码蛋白质

编码蛋白质

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

尚未收录相关数据

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

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