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

Gene ID: 136991, updated on 5-Mar-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 gamete generation and piRNA metabolic process. Predicted to be located in cytoplasm. Predicted to be active in pi-body. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 8.9) See more
Orthologs
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Genomic context

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Location:
7q31.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (117363222..117427493, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118678562..118742828, complement)
105.20220307 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)

Genotypes

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 retrotransposon silencing ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in spermatogenesis 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_2023_10

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.

Chemical Information
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