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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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    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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