Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9698
Gene name Gene Name - the full gene name approved by the HGNC.
Pumilio RNA binding family member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PUM1
Synonyms (NCBI Gene) Gene synonyms aliases
HSPUM, NEDMSF, PUMH, PUMH1, PUML1, SCA47
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDMSF, SCA47
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p35.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA bindin
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs771145682 T>A,C Likely-pathogenic Missense variant, coding sequence variant
rs1557539450 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016684 hsa-miR-423-3p Sequencing 20371350
MIRT019509 hsa-miR-151a-3p Sequencing 20371350
MIRT025121 hsa-miR-181a-5p Sequencing 20371350
MIRT031662 hsa-miR-16-5p Proteomics 18668040
MIRT032335 hsa-let-7b-5p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000932 Component P-body IDA 20818387
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IDA 26724866
GO:0003729 Function MRNA binding IBA 21873635
GO:0003730 Function MRNA 3'-UTR binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607204 14957 ENSG00000134644
Protein
UniProt ID Q14671
Protein name Pumilio homolog 1 (HsPUM) (Pumilio-1)
Protein function Sequence-specific RNA-binding protein that acts as a post-transcriptional repressor by binding the 3'-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5'-UGUANAUA-3', that is related to the Nanos Respo
PDB 1IB2 , 1M8W , 1M8X , 1M8Y , 1M8Z , 2YJY , 3BSB , 3BSX , 3Q0L , 3Q0M , 3Q0N , 3Q0O , 3Q0P , 5YKH , 5YKI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00806 PUF 852 886 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 889 921 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 924 957 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 960 992 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 996 1030 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 1032 1066 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 1068 1102 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 1112 1145 Pumilio-family RNA binding repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, heart, kidney, muscle, intestine and stomach. Not expressed in cerebellum, corpus callosum, caudate nucleus, hippocampus, medulla oblongata and putamen. Expressed in all fetal tissues tested. {ECO:0000269|PubMed:124
Sequence
MSVACVLKRKAVLWQDSFSPHLKHHPQEPANPNMPVVLTSGTGSQAQPQPAANQALAAGT
HSSPVPGSIGVAGRSQDDAMVDYFFQRQHGEQLGGGGSGGGGYNNSKHRWPTGDNIHAEH
QVRSMDELNHDFQALALEGRAMGEQLLPGKKFWETDESSKDGPKGIFLGDQWRDSAWGTS
DHSVSQPIMVQRRPGQSFHVNSEVNSVLSPRSESGGLGVSMVEYVLSSSPGDSCLRKGGF
GPRDADSDENDKGEKKNKGTFDGDKLGDLKEEGDVMDKTNGLPVQNGIDADVKDFSRTPG
NCQNSANEVDLLGPNQNGSEGLAQLTSTNGAKPVEDFSNMESQSVPLDPMEHVGMEPLQF
DYSGTQVPVDSAAATVGLFDYNSQQQLFQRPNALAVQQLTAAQQQQYALAAAHQPHIGLA
PAAFVPNPYIISAAPPGTDPYTAGLAAAATLGPAVVPHQYYGVTPWGVYPASLFQQQAAA
AAAATNSANQQTTPQAQQGQQQVLRGGASQRPLTPNQNQQGQQTDPLVAAAAVNSALAFG
QGLAAGMPGYPVLAPAAYYDQTGALVVNAGARNGLGAPVRLVAPAPVIISSSAAQAAVAA
AAASANGAAGGLAGTTNGPFRPLGTQQPQPQPQQQPNNNLASSSFYGNNSLNSNSQSSSL
FSQGSAQPANTSLGFGSSSSLGATLGSALGGFGTAVANSNTGSGSRRDSLTGSSDLYKRT
SSSLTPIGHSFYNGLSFSSSPGPVGMPLPSQGPGHSQTPPPSLSSHGSSSSLNLGGLTNG
SGRYISAAPGAEAKYRSASSASSLFSPSSTLFSSSRLRYGMSDVMPSGRSRLLEDFRNNR
YPNLQLREIAGHIMEFSQDQHGSRFIQLKLERATPAERQLVFNEILQAAYQLMVDVFGNY
VIQKFFEFGSLEQKLALAERI
RGHVLSLALQMYGCRVIQKALEFIPSDQQNEMVRELDGH
VLKCVKDQNGNHVVQKCIECVQPQSLQFIIDA
FKGQVFALSTHPYGCRVIQRILEHCLPD
QTLPILEELH
QHTEQLVQDQYGNYVIQHVLEHGRPEDKSKIVAEIRGNVLVLSQHKFASN
VVEKCVTHASRTERAVLIDEVC
TMNDGPHSALYTMMKDQYANYVVQKMIDVAEPGQRKIV
MHKIR
PHIATLRKYTYGKHILAKLEKYYMKNGVDLGPICGPPNGII
Sequence length 1186
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Spinocerebellar ataxia   Golgi Associated Vesicle Biogenesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886 31859446
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
31859446
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
31859446
Spinocerebellar ataxia SPINOCEREBELLAR ATAXIA 47 rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926
View all (203 more)
29474920
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Gout Gout GWAS
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abortion Habitual Associate 36439123
Breast Neoplasms Associate 18042273, 18211679, 27526934, 33522650
Carcinogenesis Associate 32316190
Carcinoma Non Small Cell Lung Associate 30229827, 34097560
Colorectal Neoplasms Associate 30755640
Endometrial Neoplasms Associate 32439920
Infertility Associate 29297114
Mental Disorders Associate 37549439
Neoplasm Metastasis Stimulate 37469018
Neoplasms Associate 18211679, 34097560, 34487971, 37469018