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    ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 136991, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ASZ1provided by HGNC
    Official Full Name
    ankyrin repeat, SAM and basic leucine zipper domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:1350
    See related
    Ensembl:ENSG00000154438 MIM:605797; AllianceGenome:HGNC:1350
    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
    ALP1; GASZ; Orf3; ANKL1; C7orf7; CT1.19
    Summary
    Predicted to be involved in male meiotic nuclear division; retrotransposon silencing; and spermatogenesis. Predicted to be located in cytoplasm. Predicted to be active in pi-body. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 8.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See ASZ1 in Genome Data Viewer
    Location:
    7q31.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (117363222..117427493, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118678562..118742828, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (117003276..117067547, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900596 Neighboring gene Wnt family member 2 Neighboring gene uncharacterized LOC105375467 Neighboring gene greater CFTR locus negative regulatory element CR15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:116962406-116962980 Neighboring gene greater CFTR locus negative regulatory element CR17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26546 Neighboring gene greater CFTR locus negative regulatory element CR18 Neighboring gene DNase I hypersensitive site -80 kb upstream of CFTR Neighboring gene CFTR -44 kb upstream enhancer Neighboring gene CFTR -35 kb upstream enhancer Neighboring gene uncharacterized LOC105375468 Neighboring gene ANKRD49 pseudogene 4 Neighboring gene DNase I hypersensitive site -20.9 kb upstream of CFTR Neighboring gene greater CFTR locus negative regulatory element NR9

    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. Tumour susceptibility gene 101 and the vacuolar protein sorting pathway are required for the release of hepatitis E virions. Nagashima S, et al. J Gen Virol, 2011 Dec. PMID 21880841
    2. Transcription-dependent spatial arrangements of CFTR and adjacent genes in human cell nuclei. Zink D, et al. J Cell Biol, 2004 Sep 13. PMID 15364959, Free PMC Article
    3. Identification of Gasz, an evolutionarily conserved gene expressed exclusively in germ cells and encoding a protein with four ankyrin repeats, a sterile-alpha motif, and a basic leucine zipper. Yan W, et al. Mol Endocrinol, 2002 Jun. PMID 12040005
    4. Mutational and functional analyses reveal that ST7 is a highly conserved tumor-suppressor gene on human chromosome 7q31. Zenklusen JC, et al. Nat Genet, 2001 Apr. PMID 11279520
    5. GASZ promotes germ cell derivation from embryonic stem cells. Wang Q, et al. Stem Cell Res, 2013 Sep. PMID 23816659

    See all (14) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
    EBI GWAS Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC26634

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male meiotic nuclear division ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulatory ncRNA-mediated gene silencing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in transposable element silencing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in pi-body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in pi-body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1
    Names
    ankyrin-like 1
    ankyrin-like protein 1
    germ cell-specific ankyrin, SAM and basic leucine zipper domain-containing protein

    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_001301821.2 → NP_001288750.1  ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001288750.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF461259, BC068488, BC144212, DB457846
      UniProtKB/TrEMBL
      Q49AP3
      Conserved Domains (4) summary
      cd09521
      Location:272 → 334
      SAM_ASZ1; SAM domain of ASZ1 subfamily
      cd00204
      Location:78 → 202
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:115 → 208
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:110 → 146
      ANK; ANK repeat [structural motif]

    2. NM_001301822.2 → NP_001288751.1  ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon compared to variant 1. It encodes isoform 3 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AF461259, BC068488, BC144207, DB457846
      UniProtKB/Swiss-Prot
      Q8WWH4
      Conserved Domains (1) summary
      cd09521
      Location:64 → 126
      SAM_ASZ1; SAM domain of ASZ1 subfamily

    3. NM_130768.3 → NP_570124.1  ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_570124.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF461259, DB457846
      Consensus CDS
      CCDS5772.1
      UniProtKB/Swiss-Prot
      A0AV27, A4D0V0, B7ZM20, Q8WWH4
      UniProtKB/TrEMBL
      Q49AP3
      Related
      ENSP00000284629.2, ENST00000284629.7
      Conserved Domains (3) summary
      cd09521
      Location:272 → 334
      SAM_ASZ1; SAM domain of ASZ1 subfamily
      cd00204
      Location:78 → 202
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:110 → 146
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      117363222..117427493 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      118678562..118742828 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_023315.1: Suppressed sequence

      Description
      NR_023315.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WWH4.1 GenPept UniProtKB/Swiss-Prot:Q8WWH4

    Gene LinkOut

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

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