GALNT9 (polypeptide N-acetylgalactosaminyltransferase 9)

Gene Basic Information

Gene Basic Information

symbol:
GALNT9
locus group:
protein-coding gene
location:
12q24.33
gene_family:
Polypeptide N-acetylgalactosaminyltransferases
alias symbol:
GALNAC-T9
alias name:
polypeptide GalNAc transferase 9
entrez id:
50614
ensembl gene id:
ENSG00000182870
ucsc gene id:
uc001ukc.5
refseq accession:
NM_001122636
hgnc_id:
HGNC:4131
approved reserved:
2000-03-29

Chromosome Location

Chromosome Location

12q24.33

Gene Summary

Gene Summary

GALNT9（多肽N-乙酰氨基半乳糖转移酶9）属于GALNT基因家族，该家族共有20个成员，负责催化蛋白质O-糖基化的第一步反应，即在丝氨酸或苏氨酸残基上添加N-乙酰氨基半乳糖（GalNAc）。GALNT家族成员的共性是它们都含有保守的糖基转移酶结构域，但各自具有不同的底物特异性和组织表达模式。GALNT9主要在睾丸、大脑和甲状腺等组织中表达，其表达产物通过O-糖基化修饰参与细胞粘附、信号转导和蛋白质稳定性调控等过程。GALNT9的突变可能导致糖基化异常，影响精子发生和神经系统功能，并与某些癌症如甲状腺癌和胶质母细胞瘤的发生发展相关。GALNT9过表达可能促进肿瘤细胞的迁移和侵袭，而降低表达则可能影响生殖系统和神经系统的正常功能。研究表明，GALNT9在精子发生过程中对精子蛋白质的糖基化修饰至关重要，其表达异常可能导致男性不育。此外，GALNT9还参与调控某些细胞表面受体的功能，如EGFR和Notch受体，进而影响细胞增殖和分化。在癌症中，GALNT9的表达水平变化可能通过改变肿瘤微环境或影响免疫逃逸来促进肿瘤进展。GALNT9与其他GALNT家族成员可能存在功能冗余，但其独特的表达模式和底物偏好使其在特定生理和病理过程中发挥不可替代的作用。

ChineseEnglish

This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM entry for GALNT9     Wikipedia entry for GALNT9

Gene Sequence

Gene Sequence

Nucleotide sequence of GALNT9:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MAVARKIRTL LTVNILVFVG IVLFSVYCRL QGRSQELVRI
41VSGDRRVRSR HAKVGTLGDR EAILQRLDHL EEVVYNQLNG
81 LAKPIGLVE GPGGLGQGGL AATLRDDGQE AEGKYEEYGY
121NAQLSDRISL DRSIPDYRPR KCRQMSYAQD LPQVSVVFIF
161V NEALSVIL RSVHSVVNHT PSQLLKEVIL VDDNSDNVEL
201KFNLDQYVNK RYPGLVKIVR NSRREGLIRA RLQGWKAATA
241PV VGFFDAH VEFNTGWAEP ALSRIREDRR RIVLPAIDNI
281KYSTFEVQQY ANAAHGYNWG LRCMYIIPPQ DWLDRGDESA
321PIR TPAMIG CSFVVDREYF GDIGLLDPGM EVYGGENVEL
361GMRVWQCGGS MEVLPCSRVA HIERTRKPYN NDIDYYAKRN
401ALRA AEVWM DDFKSHVYMA WNIPMSNPGV DFGDVSERLA
441LRQRLKCRSF KWYLENVYPE MRVYNNTLTY GEVRNSKASA
481YCLDQ GAED GDRAILYPCH GMSSQLVRYS ADGLLQLGPL
521GSTAFLPDSK CLVDDGTGRM PTLKKCEDVA RPTQRLWDFT
561QSGPIV SRA TGRCLEVEMS KDANFGLRLV VQRCSGQKWM
601IRNWIKHARH
结构预测来自 AlphaFold DB（UniProt: Q9HCQ5），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of GALNT9:           Showing partial SNPs
rs3935241       rs3935242       rs3935243       rs3935476       rs3935477       rs4074044       rs4074045       rs4074046       rs4074185       rs4077836       rs4077838       rs6598205       rs6598206       rs7297357       rs7310160       rs7485291       rs7485305      

Gene Expression

Gene Expression

Tissue expression of GALNT9:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
AAGTGGTACCTGGAGAACG
59
CTTTGCTGTTTCTCACCTCTC
59
ACAACAGTGACAACGTGGA
60
CTGTTGCGGACAATCTTCAC
60
CAAGTATGAGGAGTACGGC
57
ATCTGTCTGCACTTTCTGG
58
AAGTGGTACCTGGAGAACG
59
CTTTGCTGTTTCTCACCTCTC
59
CAAGTATGAGGAGTACGGC
57
ATCTGTCTGCACTTTCTGG
58
CAAGTATGAGGAGTACGGC
57
GATGTTTCCACTGTTGCTG
57
TACTTCGGAGACATTGGGC
60
CCTTCTGTTTCCCTCATGC
59
ATACATGGCTTAGAAGTGCAG
58
TCATTGACGAAGATGAAGACC
58
GAGAATGACCACAGTGCTC
58
CCTCCTGACATTGAGTTCCT
59
AAGTGGTACCTGGAGAACG
59
CTTTGCTGTTTCTCACCTCTC
59

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of GALNT9 (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 GALNT9:

GO ID
Protein
Source DB
GO:0000139
J3KNN1 (UniProtKB)
IEA
GO:0006486
J3KNN1 (UniProtKB)
IEA
GO:0016021
J3KNN1 (UniProtKB)
IEA
GO:0016757
J3KNN1 (UniProtKB)
IEA
GO:0030246
J3KNN1 (UniProtKB)
IEA
GO:0000139
Q9HCQ5 (UniProtKB)
TAS
GO:0004653
Q9HCQ5 (UniProtKB)
NAS
GO:0004653
Q9HCQ5 (UniProtKB)
TAS
GO:0006493
Q9HCQ5 (UniProtKB)
NAS
GO:0016021
Q9HCQ5 (UniProtKB)
IEA
GO:0016266
Q9HCQ5 (UniProtKB)
TAS
GO:0030246
Q9HCQ5 (UniProtKB)
IEA
GO:0046872
Q9HCQ5 (UniProtKB)
IEA

Related microRNA

Related microRNA

microRNAs potentially regulating GALNT9:     

Gene Interactions

Gene Interactions

String
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Neuroblastoma 0.000271442 1 0 BeFree
Central neuroblastoma 0.000271442 1 0 BeFree

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