SPOUT1 (SPOUT domain containing methyltransferase 1)

Gene Basic Information

Gene Basic Information

symbol:
SPOUT1
locus group:
protein-coding gene
location:
9q34.11
gene_family:
alias symbol:
HSPC109|CENP-32
alias name:
centromere protein 32
entrez id:
51490
ensembl gene id:
ENSG00000198917
ucsc gene id:
uc004bwd.3
refseq accession:
NM_016390
hgnc_id:
HGNC:26933
approved reserved:
2004-03-25

Chromosome Location

Chromosome Location

9q34.11

Gene Summary

Gene Summary

SPOUT1（也称为SPOUT domain-containing protein 1）是一个属于SPOUT甲基转移酶超家族的基因，该家族成员通常含有保守的SPOUT结构域，负责催化RNA或其他分子的甲基化修饰。SPOUT家族基因的共同特点是参与RNA代谢调控，包括tRNA、rRNA或mRNA的甲基化，从而影响RNA的稳定性、翻译效率或功能。SPOUT1的具体功能尚未完全明确，但研究表明它可能在RNA修饰或代谢中发挥作用，类似于家族其他成员。该基因的表达产物可能通过甲基化修饰RNA分子，调节基因表达或细胞功能。目前关于SPOUT1突变的研究较少，但SPOUT家族基因的突变通常会导致RNA加工异常，可能影响细胞增殖、分化或导致发育缺陷。如果SPOUT1过表达，可能干扰正常的RNA甲基化平衡，影响RNA功能或细胞代谢；而降低表达可能导致RNA修饰不足，影响翻译或信号传导。SPOUT1与某些疾病的关联尚不明确，但SPOUT家族基因的异常表达或突变已被报道与癌症、神经退行性疾病或发育障碍相关。由于研究有限，SPOUT1的具体作用机制和临床意义仍需进一步探索。

ChineseEnglish

None

OMIM entry for SPOUT1     Wikipedia entry for SPOUT1

Gene Sequence

Gene Sequence

Nucleotide sequence of SPOUT1:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MAERGRKRPC GPGEHGQRIE WRKWKQQKKE EKKKWKDLKL
41MKKLERQRAQ EEQAKRLEEE EAAAEKEDRG RPYTLSVALP
81 GSILDNAQS PELRTYLAGQ IARACAIFCV DEIVVFDEEG
121QDAKTVEGEF TGVGKKGQAC VQLARILQYL ECPQYLRKAF
161F PKHQDLQF AGLLNPLDSP HHMRQDEESE FREGIVVDRP
201TRPGHGSFVN CGMKKEVKID KNLEPGLRVT VRLNQQQHPD
241CK TYHGKVV SSQDPRTKAG LYWGYTVRLA SCLSAVFAEA
281PFQDGYDLTI GTSERGSDVA SAQLPNFRHA LVVFGGLQGL
321EAG ADADPN LEVAEPSVLF DLYVNTCPGQ GSRTIRTEEA
361ILISLAALQP GLIQAGARHT
结构预测来自 AlphaFold DB（UniProt: Q5T280），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of SPOUT1:           Showing partial SNPs

Gene Expression

Gene Expression

Tissue expression of SPOUT1:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of SPOUT1 (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 SPOUT1:

Related microRNA

Related microRNA

microRNAs potentially regulating SPOUT1:     

Gene Interactions

Gene Interactions

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Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source

Related Publications

Related Publications

A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review.
Valle T, Damián A, Torres M, Méndez P, Márquez A, Cazalla M, Jiménez-Estrada JA, Rodríguez-Canó M, Gallego-Zazo N, Vásquez-Amell V, Miranda Alcaraz L, Mora-Gómez M, Ruiz Pérez VL, Nevado J, Tenorio-Castaño J, Morte B, Carracedo Á, Lapunzina P, Galán E Am J Med Genet A IF: 1.7 2026-08-00
Spadmiss with basal ganglia calcification and multilocus genetic disease: a novel phenotypic expansion.
Kachuei M, Eghdami S, Eyvaz-Ziaei S, Tavasoli A, Ghadipasha A Ann Med Surg (Lond) IF: 1.6 2026-08-00

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