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MSANTD3 Myb/SANT DNA binding domain containing 3 [ Homo sapiens (human) ]

Gene ID: 91283, updated on 5-Aug-2022

Summary

Official Symbol
MSANTD3provided by HGNC
Official Full Name
Myb/SANT DNA binding domain containing 3provided by HGNC
Primary source
HGNC:HGNC:23370
See related
Ensembl:ENSG00000066697 AllianceGenome:HGNC:23370
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
L8; C9orf30
Expression
Ubiquitous expression in gall bladder (RPKM 7.2), thyroid (RPKM 6.5) and 25 other tissues See more
Orthologs
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Genomic context

See MSANTD3 in Genome Data Viewer
Location:
9q31.1
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (100427143..100451734)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (112598812..112623397)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (103189425..103214016)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene inversin Neighboring gene testis expressed 10 Neighboring gene uncharacterized LOC105376177 Neighboring gene MSANTD3-TMEFF1 readthrough Neighboring gene Sharpr-MPRA regulatory region 7300 Neighboring gene uncharacterized LOC124902237

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34973, MGC17337

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
myb/SANT-like DNA-binding domain-containing protein 3
Names
Myb/SANT-like DNA-binding domain containing 3
UPF0439 protein C9orf30

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_001198805.2NP_001185734.1  myb/SANT-like DNA-binding domain-containing protein 3 isoform a

    See identical proteins and their annotated locations for NP_001185734.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
    Source sequence(s)
    AL353805, BI596498, BU620865, CN366267
    Consensus CDS
    CCDS6749.1
    UniProtKB/Swiss-Prot
    Q5T728, Q96H12
    UniProtKB/TrEMBL
    A0A024R171
    Related
    ENSP00000480622.1, ENST00000622639.4
    Conserved Domains (1) summary
    pfam13873
    Location:1087
    Myb_DNA-bind_5; Myb/SANT-like DNA-binding domain
  2. NM_001198806.2NP_001185735.1  myb/SANT-like DNA-binding domain-containing protein 3 isoform a

    See identical proteins and their annotated locations for NP_001185735.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
    Source sequence(s)
    AL353805, BM914752, BU620865
    Consensus CDS
    CCDS6749.1
    UniProtKB/Swiss-Prot
    Q5T728, Q96H12
    UniProtKB/TrEMBL
    A0A024R171
    Related
    ENSP00000480445.1, ENST00000613183.1
    Conserved Domains (1) summary
    pfam13873
    Location:1087
    Myb_DNA-bind_5; Myb/SANT-like DNA-binding domain
  3. NM_001198807.2NP_001185736.1  myb/SANT-like DNA-binding domain-containing protein 3 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) includes an additional exon that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a.
    Source sequence(s)
    AL353805, BI600290, BU620865, DR159535
    Consensus CDS
    CCDS56579.1
    UniProtKB/Swiss-Prot
    Q96H12
    Related
    ENSP00000364020.1, ENST00000374885.5
    Conserved Domains (1) summary
    pfam13873
    Location:1087
    Myb_DNA-bind_5; Myb/SANT-like DNA-binding domain
  4. NM_080655.3NP_542386.1  myb/SANT-like DNA-binding domain-containing protein 3 isoform a

    See identical proteins and their annotated locations for NP_542386.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1, 2 and 3 encode the same isoform (a).
    Source sequence(s)
    AL353805, BC008993, BU620865, DR159535
    Consensus CDS
    CCDS6749.1
    UniProtKB/Swiss-Prot
    Q5T728, Q96H12
    UniProtKB/TrEMBL
    A0A024R171
    Related
    ENSP00000378506.2, ENST00000395067.7
    Conserved Domains (1) summary
    pfam13873
    Location:1087
    Myb_DNA-bind_5; Myb/SANT-like DNA-binding domain

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    100427143..100451734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    112598812..112623397
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)