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MSANTD1 Myb/SANT DNA binding domain containing 1 [ Homo sapiens (human) ]

Gene ID: 345222, updated on 5-Mar-2024

Summary

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Official Symbol
MSANTD1provided by HGNC
Official Full Name
Myb/SANT DNA binding domain containing 1provided by HGNC
Primary source
HGNC:HGNC:33741
See related
Ensembl:ENSG00000188981 AllianceGenome:HGNC:33741
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
C4orf44
Summary
Predicted to be involved in positive regulation of transcription, DNA-templated. Predicted to be active in nuclear body. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 2.6), testis (RPKM 2.5) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See MSANTD1 in Genome Data Viewer
Location:
4p16.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (3244273..3256613)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (3243031..3255371)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (3246096..3258340)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15199 Neighboring gene huntingtin repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21217 Neighboring gene HTT antisense RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21218 Neighboring gene RNA, U7 small nuclear 33 pseudogene Neighboring gene huntingtin Neighboring gene ReSE screen-validated silencer GRCh37_chr4:3137138-3137317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15201 Neighboring gene Sharpr-MPRA regulatory region 10599 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3215178-3215678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3215679-3216179 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3239294-3239953 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:3239954-3240612 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:3248264-3248439 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3252404-3253300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3271939-3272476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3295537-3296122 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:3296907-3297102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3306185-3306834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3310051-3310769 Neighboring gene X antigen family member 3 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3319084-3319638 Neighboring gene regulator of G protein signaling 12 Neighboring gene ribosomal protein L7a pseudogene 29

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. CDK7/GRP78 signaling axis contributes to tumor growth and metastasis in osteosarcoma. Zhang T, et al. Oncogene, 2022 Sep. PMID 36042349
  2. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in positive regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in nuclear body IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
myb/SANT-like DNA-binding domain-containing protein 1
Names
Myb/SANT-like DNA-binding domain containing 1

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_001042690.2 → NP_001036155.1  myb/SANT-like DNA-binding domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001036155.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant encodes the longer isoform (1).
    Source sequence(s)
    AL390059, BC043530
    Consensus CDS
    CCDS47003.1
    UniProtKB/Swiss-Prot
    C9J6V0, Q6ZTZ1
    UniProtKB/TrEMBL
    D6RDG6
    Related
    ENSP00000411584.2, ENST00000438480.7
    Conserved Domains (1) summary
    pfam13837
    Location:44 → 125
    Myb_DNA-bind_4; Myb/SANT-like DNA-binding domain

  2. NM_001330620.2 → NP_001317549.1  myb/SANT-like DNA-binding domain-containing protein 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL390059, BC043530, BQ185297, BQ631148
    Consensus CDS
    CCDS82907.1
    UniProtKB/TrEMBL
    D6R9L8, D6RDG6
    Related
    ENSP00000423547.1, ENST00000507492.5
    Conserved Domains (1) summary
    pfam13837
    Location:31 → 112
    Myb_DNA-bind_4; Myb/SANT-like DNA-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    3244273..3256613
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047415655.1 → XP_047271611.1  myb/SANT-like DNA-binding domain-containing protein 1 isoform X2

  2. XM_011513467.4 → XP_011511769.1  myb/SANT-like DNA-binding domain-containing protein 1 isoform X1

    Conserved Domains (1) summary
    pfam13837
    Location:43 → 109
    Myb_DNA-bind_4; Myb/SANT-like DNA-binding domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    3243031..3255371
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349951.1 → XP_054205926.1  myb/SANT-like DNA-binding domain-containing protein 1 isoform X2

  2. XM_054349950.1 → XP_054205925.1  myb/SANT-like DNA-binding domain-containing protein 1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001012982.2: Suppressed sequence

    Description
    NM_001012982.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZTZ1.2 GenPept UniProtKB/Swiss-Prot:Q6ZTZ1

Gene LinkOut

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