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SETD9 SET domain containing 9 [ Homo sapiens (human) ]

Gene ID: 133383, updated on 26-Oct-2022

Summary

Official Symbol
SETD9provided by HGNC
Official Full Name
SET domain containing 9provided by HGNC
Primary source
HGNC:HGNC:28508
See related
Ensembl:ENSG00000155542 AllianceGenome:HGNC:28508
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C5orf35
Summary
Predicted to enable lysine N-methyltransferase activity. Predicted to be involved in regulation of signal transduction by p53 class mediator. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 3.4), colon (RPKM 1.3) and 25 other tissues See more
Orthologs
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Genomic context

See SETD9 in Genome Data Viewer
Location:
5q11.2
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (56909260..56928900)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (57737511..57757157)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (56205087..56224727)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase 1 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC105378980 Neighboring gene MIER family member 3 Neighboring gene small nuclear ribonucleoprotein polypeptide B2 pseudogene Neighboring gene Sharpr-MPRA regulatory region 15622

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 Apr 4 07:08:55 2018

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC33648

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lysine N-methyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in methylation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
SET domain-containing protein 9

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001171990.3NP_001165461.1  SET domain-containing protein 9 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding region, compared to variant 1, these differences result in a frameshift. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC008937, AK309152
    Consensus CDS
    CCDS93713.1
    UniProtKB/Swiss-Prot
    Q8NE22
    Related
    ENSP00000486609.1, ENST00000628593.1
  2. NM_001323018.2NP_001309947.1  SET domain-containing protein 9 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC008937
    Conserved Domains (1) summary
    pfam00856
    Location:235268
    SET; SET domain
  3. NM_001323019.2NP_001309948.1  SET domain-containing protein 9 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC008937
  4. NM_001323020.2NP_001309949.1  SET domain-containing protein 9 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC008937
  5. NM_001323022.1NP_001309951.1  SET domain-containing protein 9 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC008937
  6. NM_153706.4NP_714917.2  SET domain-containing protein 9 isoform 1

    See identical proteins and their annotated locations for NP_714917.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC008937, BC036528
    Consensus CDS
    CCDS3972.1
    UniProtKB/Swiss-Prot
    F5H713, Q8NE22
    Related
    ENSP00000285947.2, ENST00000285947.5
    Conserved Domains (1) summary
    pfam00856
    Location:261294
    SET; SET domain

RNA

  1. NR_136555.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008937
  2. NR_136556.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008937
    Related
    ENST00000418299.5
  3. NR_136557.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008937
  4. NR_136558.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008937

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    56909260..56928900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248426.5XP_005248483.1  SET domain-containing protein 9 isoform X3

    Conserved Domains (1) summary
    pfam00856
    Location:117150
    SET; SET domain
  2. XM_011543140.4XP_011541442.1  SET domain-containing protein 9 isoform X2

    See identical proteins and their annotated locations for XP_011541442.1

    Conserved Domains (1) summary
    pfam00856
    Location:185218
    SET; SET domain
  3. XM_011543139.3XP_011541441.1  SET domain-containing protein 9 isoform X1

    Conserved Domains (1) summary
    pfam00856
    Location:229262
    SET; SET domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    57737511..57757157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)