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PRMT7 protein arginine methyltransferase 7 [ Homo sapiens (human) ]

Gene ID: 54496, updated on 7-Oct-2018

Summary

Official Symbol
PRMT7provided by HGNC
Official Full Name
protein arginine methyltransferase 7provided by HGNC
Primary source
HGNC:HGNC:25557
See related
Ensembl:ENSG00000132600 MIM:610087; Vega:OTTHUMG00000137556
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SBIDDS
Summary
This gene encodes a member of the protein arginine N-methyltransferase family of proteins. The encoded enzyme transfers single methyl groups to arginine residues to generate monomethylarginines on histone proteins as well as other protein substrates. This enzyme plays a role in a wide range of biological processes, including neuronal differentiation, male germ line imprinting, small nuclear ribonucleoprotein biogenesis, and regulation of the Wnt signaling pathway. Mutations in this gene underlie multiple related syndromes in human patients characterized by intellectual disability, short stature and other features. The encoded protein may promote breast cancer cell invasion and metastasis in human patients. [provided by RefSeq, May 2017]
Expression
Ubiquitous expression in small intestine (RPKM 5.3), testis (RPKM 5.1) and 25 other tissues See more
Orthologs

Genomic context

See PRMT7 in Genome Data Viewer
Location:
16q22.1
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (68310951..68360876)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (68344877..68391169)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene phospholipase A2 group XV Neighboring gene solute carrier family 7 member 6 Neighboring gene RNA, U6 small nuclear 1262, pseudogene Neighboring gene solute carrier family 7 member 6 opposite strand Neighboring gene RNA, U4 small nuclear 30, pseudogene Neighboring gene sphingomyelin phosphodiesterase 3 Neighboring gene ribosomal protein L35a pseudogene 33 Neighboring gene uncharacterized LOC105371321

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Short stature, brachydactyly, intellectual developmental disability, and seizures
MedGen: C4310689 OMIM: 617157 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.
NHGRI GWA Catalog

Pathways from BioSystems

  • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
    Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
  • Chromatin organization, organism-specific biosystem (from REACTOME)
    Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
  • RMTs methylate histone arginines, organism-specific biosystem (from REACTOME)
    RMTs methylate histone arginines, organism-specific biosystemArginine methylation is a common post-translational modification; around 2% of arginine residues are methylated in rat liver nuclei (Boffa et al. 1977). Arginine can be methylated in 3 different ways...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10640, KIAA1933

Gene Ontology Provided by GOA

Process Evidence Code Pubs
DNA methylation involved in gamete generation ISS
Inferred from Sequence or Structural Similarity
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
histone H4-R3 methylation IEA
Inferred from Electronic Annotation
more info
 
histone arginine methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone arginine methylation ISS
Inferred from Sequence or Structural Similarity
more info
 
histone methylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-arginine methylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-arginine methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT peptidyl-arginine methylation, to asymmetrical-dimethyl arginine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-arginine methylation, to symmetrical-dimethyl arginine IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression by genetic imprinting ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of protein binding IC
Inferred by Curator
more info
PubMed 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spliceosomal snRNP assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
fibrillar center IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein arginine N-methyltransferase 7
Names
[Myelin basic protein]-arginine N-methyltransferase PRMT7
histone-arginine N-methyltransferase PRMT7
NP_001171753.1
NP_001276947.1
NP_001338072.1
NP_001338073.1
NP_061896.1
XP_011521414.1
XP_011521415.1
XP_011521417.1
XP_011521418.1
XP_011521423.1
XP_011521426.1
XP_011521427.1
XP_011521428.1
XP_011521430.1
XP_016878781.1
XP_016878784.1
XP_016878785.1
XP_016878786.1
XP_016878787.1
XP_016878788.1
XP_016878789.1
XP_016878790.1
XP_016878791.1
XP_016878792.1
XP_016878793.1
XP_016878794.1
XP_016878797.1
XP_016878798.1
XP_016878799.1
XP_016878800.1
XP_016878801.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054896.1 RefSeqGene

    Range
    4978..51293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184824.2NP_001171753.1  protein arginine N-methyltransferase 7 isoform 2

    See identical proteins and their annotated locations for NP_001171753.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks an exon in the 5' coding region, and its 3' terminal exon extends past a splice site that is used in variant 4, which results in a novel 3' coding region and 3' UTR compared to variant 4. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 4.
    Source sequence(s)
    AC020978, AK304605, CB140365, DA648148
    Consensus CDS
    CCDS54033.1
    UniProtKB/Swiss-Prot
    Q9NVM4
    Related
    ENSP00000414716.3, OTTHUMP00000254297, ENST00000449359.7
  2. NM_001290018.1NP_001276947.1  protein arginine N-methyltransferase 7 isoform 1

    See identical proteins and their annotated locations for NP_001276947.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and its 3' terminal exon extends past a splice site that is used in variant 4, which results in a novel 3' coding region and 3' UTR compared to variant 4. The encoded isoform (1) is shorter and has a distinct C-terminus compared to isoform 4. Both variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AC020978, AK056647, AK304605, CB140365
    Consensus CDS
    CCDS10866.1
    UniProtKB/Swiss-Prot
    Q9NVM4
    UniProtKB/TrEMBL
    A0A024R726
    Related
    ENSP00000343103.5, OTTHUMP00000174863, ENST00000339507.9, OTTHUMT00000268892
    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  3. NM_001351143.1NP_001338072.1  protein arginine N-methyltransferase 7 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (4).
    Source sequence(s)
    AC020978, AC099521
    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  4. NM_001351144.1NP_001338073.1  protein arginine N-methyltransferase 7 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses two alternate in-frame splice sites and its 3' terminal exon extends past a splice site that is used in variant 4, which results in a novel 3' coding region and 3' UTR compared to variant 4. The encoded isoform (5) is shorter and has a distinct C-terminus compared to isoform 4.
    Source sequence(s)
    AC020978, AC099521, CB140365
    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  5. NM_019023.3NP_061896.1  protein arginine N-methyltransferase 7 isoform 1

    See identical proteins and their annotated locations for NP_061896.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) includes a 3' terminal exon that extends past a splice site that is used in variant 4, which results in a novel 3' coding region and 3' UTR compared to variant 4. The encoded isoform (1) is shorter and has a distinct C-terminus compared to isoform 4. Both variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AC020978, AK001502, AK022739, CB140365, DA287041, DA648148
    Consensus CDS
    CCDS10866.1
    UniProtKB/Swiss-Prot
    Q9NVM4
    UniProtKB/TrEMBL
    A0A024R726
    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

RNA

  1. NR_147056.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two exons and uses two alternate splice sites compared to variant 4. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC020978, AC099521, CB140365
  2. NR_147057.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an alternate exon, lacks an exon, and uses two alternate splice sites compared to variant 4. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC020978, AC099521, CB140365
  3. NR_147058.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an exon and uses two alternate splice sites compared to variant 4. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC020978, AC099521, CB140365

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    68310951..68360876
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523116.3XP_011521418.1  protein arginine N-methyltransferase 7 isoform X2

    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  2. XM_011523112.3XP_011521414.1  protein arginine N-methyltransferase 7 isoform X1

    See identical proteins and their annotated locations for XP_011521414.1

    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  3. XM_017023312.2XP_016878801.1  protein arginine N-methyltransferase 7 isoform X18

  4. XM_017023296.2XP_016878785.1  protein arginine N-methyltransferase 7 isoform X4

    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  5. XM_011523113.3XP_011521415.1  protein arginine N-methyltransferase 7 isoform X1

    See identical proteins and their annotated locations for XP_011521415.1

    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  6. XM_017023298.2XP_016878787.1  protein arginine N-methyltransferase 7 isoform X6

    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  7. XM_017023301.2XP_016878790.1  protein arginine N-methyltransferase 7 isoform X10

    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  8. XM_017023300.2XP_016878789.1  protein arginine N-methyltransferase 7 isoform X9

    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  9. XM_017023297.2XP_016878786.1  protein arginine N-methyltransferase 7 isoform X5

  10. XM_017023299.2XP_016878788.1  protein arginine N-methyltransferase 7 isoform X7

  11. XM_017023304.2XP_016878793.1  protein arginine N-methyltransferase 7 isoform X13

    Related
    ENSP00000454776.1, OTTHUMP00000254302, ENST00000568975.5
    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  12. XM_017023308.1XP_016878797.1  protein arginine N-methyltransferase 7 isoform X15

    UniProtKB/TrEMBL
    A0A024R6Z2
  13. XM_017023311.2XP_016878800.1  protein arginine N-methyltransferase 7 isoform X17

  14. XM_017023303.2XP_016878792.1  protein arginine N-methyltransferase 7 isoform X12

  15. XM_011523124.3XP_011521426.1  protein arginine N-methyltransferase 7 isoform X11

    See identical proteins and their annotated locations for XP_011521426.1

  16. XM_017023295.2XP_016878784.1  protein arginine N-methyltransferase 7 isoform X3

    UniProtKB/Swiss-Prot
    Q9NVM4
    UniProtKB/TrEMBL
    A0A024R726
    Related
    ENSP00000409324.2, ENST00000441236.2
    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  17. XM_017023310.1XP_016878799.1  protein arginine N-methyltransferase 7 isoform X15

    UniProtKB/TrEMBL
    A0A024R6Z2
    Conserved Domains (1) summary
    PRK12467
    Location:227347
    PRK12467; peptide synthase; Provisional
  18. XM_017023292.2XP_016878781.1  protein arginine N-methyltransferase 7 isoform X2

    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  19. XM_011523115.3XP_011521417.1  protein arginine N-methyltransferase 7 isoform X1

    See identical proteins and their annotated locations for XP_011521417.1

    Conserved Domains (1) summary
    cl17173
    Location:37186
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  20. XM_017023302.2XP_016878791.1  protein arginine N-methyltransferase 7 isoform X12

  21. XM_011523125.3XP_011521427.1  protein arginine N-methyltransferase 7 isoform X11

    See identical proteins and their annotated locations for XP_011521427.1

    Conserved Domains (1) summary
    PRK12467
    Location:227347
    PRK12467; peptide synthase; Provisional
  22. XM_017023309.2XP_016878798.1  protein arginine N-methyltransferase 7 isoform X15

    UniProtKB/TrEMBL
    A0A024R6Z2
    Conserved Domains (1) summary
    PRK12467
    Location:227347
    PRK12467; peptide synthase; Provisional
  23. XM_011523126.3XP_011521428.1  protein arginine N-methyltransferase 7 isoform X11

    See identical proteins and their annotated locations for XP_011521428.1

    Conserved Domains (1) summary
    PRK12467
    Location:227347
    PRK12467; peptide synthase; Provisional
  24. XM_011523128.3XP_011521430.1  protein arginine N-methyltransferase 7 isoform X16

  25. XM_011523121.3XP_011521423.1  protein arginine N-methyltransferase 7 isoform X8

  26. XM_017023305.2XP_016878794.1  protein arginine N-methyltransferase 7 isoform X14

RNA

  1. XR_002957817.1 RNA Sequence

  2. XR_002957816.1 RNA Sequence

  3. XR_001751915.2 RNA Sequence

  4. XR_002957814.1 RNA Sequence

  5. XR_002957820.1 RNA Sequence

  6. XR_002957819.1 RNA Sequence

  7. XR_001751920.1 RNA Sequence

  8. XR_002957822.1 RNA Sequence

  9. XR_001751923.1 RNA Sequence

  10. XR_001751917.2 RNA Sequence

  11. XR_002957815.1 RNA Sequence

  12. XR_002957821.1 RNA Sequence

  13. XR_001751921.2 RNA Sequence

  14. XR_002957818.1 RNA Sequence

  15. XR_001751922.1 RNA Sequence

  16. XR_002957823.1 RNA Sequence

  17. XR_001751924.1 RNA Sequence

  18. XR_002957824.1 RNA Sequence

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