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

Gene ID: 136991, updated on 1-Jun-2020

Summary

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
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
Expression
Restricted expression toward testis (RPKM 8.9) See more
Orthologs

Genomic context

See ASZ1 in Genome Data Viewer
Location:
7q31.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (117363222..117427493, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (117003276..117067577, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375467 Neighboring gene Wnt family member 2 Neighboring gene greater CFTR locus negative regulatory element CR15 Neighboring gene greater CFTR locus negative regulatory element CR17 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 ANKRD49 pseudogene 4

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

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26634

Gene Ontology Provided by GOA

Process Evidence Code Pubs
DNA methylation involved in gamete generation ISS
Inferred from Sequence or Structural Similarity
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
gene silencing by RNA IEA
Inferred from Electronic Annotation
more info
 
male meiotic nuclear division ISS
Inferred from Sequence or Structural Similarity
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
piRNA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
piRNA metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
pi-body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pi-body ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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)

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_001301821.2NP_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/Swiss-Prot
    Q8WWH4
    Conserved Domains (4) summary
    cd09521
    Location:272334
    SAM_ASZ1; SAM domain of ASZ1 subfamily
    cd00204
    Location:78202
    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:115208
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:110146
    ANK; ANK repeat [structural motif]
  2. NM_001301822.2NP_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:64126
    SAM_ASZ1; SAM domain of ASZ1 subfamily
  3. NM_130768.3NP_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
    Q8WWH4
    Related
    ENSP00000284629.2, ENST00000284629.7
    Conserved Domains (3) summary
    cd09521
    Location:272334
    SAM_ASZ1; SAM domain of ASZ1 subfamily
    cd00204
    Location:78202
    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:110146
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    117363222..117427493 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.
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