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ACTL9 actin like 9 [ Homo sapiens (human) ]

Gene ID: 284382, updated on 10-Dec-2024

Summary

Official Symbol
ACTL9provided by HGNC
Official Full Name
actin like 9provided by HGNC
Primary source
HGNC:HGNC:28494
See related
Ensembl:ENSG00000181786 MIM:619251; AllianceGenome:HGNC:28494
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
HSD21; SPGF53
Summary
Predicted to enable protein kinase binding activity. Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Involved in acrosome assembly and fertilization. Located in acrosomal vesicle; perinuclear theca; and sperm head. Implicated in spermatogenic failure 53. [provided by Alliance of Genome Resources, Dec 2024]
Orthologs
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Genomic context

See ACTL9 in Genome Data Viewer
Location:
19p13.2
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (8697400..8698795, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (8692998..8694393, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (8807750..8809145, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8649461-8650040 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:8651198-8651775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8656685-8657283 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 10 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:8674492-8674914 Neighboring gene Sharpr-MPRA regulatory region 9055 Neighboring gene NFIL3 like basic leucine zipper Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13924 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:8794921-8795103 Neighboring gene ribosomal protein L23a pseudogene 78 Neighboring gene olfactory receptor family 2 subfamily Z member 1 Neighboring gene zinc finger protein 558 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10036 Neighboring gene methyl-CpG binding domain protein 3 like 1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spermatogenic failure 53
MedGen: C5543253 OMIM: 619258 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.
EBI GWAS Catalog

Interactions

General gene information

Clone Names

  • MGC33407

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in acrosomal vesicle PubMed 
is_active_in actin cytoskeleton  
located_in perinuclear theca PubMed 
located_in sperm head PubMed 

General protein information

Preferred Names
actin-like protein 9
Names
testicular tissue protein Li 15
testicular tissue protein Li 9

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_178525.5NP_848620.3  actin-like protein 9

    See identical proteins and their annotated locations for NP_848620.3

    Status: VALIDATED

    Source sequence(s)
    AI798166, BC024028, HY011370, HY042660
    Consensus CDS
    CCDS12207.1
    UniProtKB/Swiss-Prot
    A8K893, Q6X960, Q8TC94
    UniProtKB/TrEMBL
    A0A140VJD5
    Related
    ENSP00000316674.3, ENST00000324436.5
    Conserved Domains (2) summary
    smart00268
    Location:49415
    ACTIN; Actin
    cl17037
    Location:49416
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    8697400..8698795 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    8692998..8694393 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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