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Hax1 HCLS1 associated X-1 [ Mus musculus (house mouse) ]

Gene ID: 23897, updated on 30-Mar-2024

Summary

Official Symbol
Hax1provided by MGI
Official Full Name
HCLS1 associated X-1provided by MGI
Primary source
MGI:MGI:1346319
See related
Ensembl:ENSMUSG00000027944 AllianceGenome:MGI:1346319
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
HAX-1; Hs1bp1; SIG-111; Silg111; mHAX-1s; HSP1BP-1
Summary
Predicted to enable interleukin-1 binding activity; protein N-terminus binding activity; and protein domain specific binding activity. Predicted to be involved in several processes, including positive regulation of intracellular signal transduction; positive regulation of protein phosphorylation; and regulation of actin cytoskeleton organization. Predicted to act upstream of or within cell surface receptor signaling pathway. Located in several cellular components, including actin cytoskeleton; lamellipodium; and sarcoplasmic reticulum. Is expressed in coelomic epithelium of testis; ovary; and testis mesenchyme. Human ortholog(s) of this gene implicated in severe congenital neutropenia 3. Orthologous to human HAX1 (HCLS1 associated protein X-1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 37.5), testis adult (RPKM 25.3) and 28 other tissues See more
Orthologs
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Genomic context

See Hax1 in Genome Data Viewer
Location:
3 F1; 3 39.19 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (89902753..89906023, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (89995446..89998716, complement)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene ATPase, class I, type 8B, member 2 Neighboring gene STARR-positive B cell enhancer ABC_E7921 Neighboring gene STARR-positive B cell enhancer ABC_E7922 Neighboring gene aquaporin 10, pseudogene Neighboring gene predicted gene, 24046 Neighboring gene STARR-positive B cell enhancer ABC_E4557 Neighboring gene predicted gene, 19710 Neighboring gene ubiquitin-associated protein 2-like Neighboring gene predicted gene, 24608

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables interleukin-1 binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding ISO
Inferred from Sequence Orthology
more info
 
enables signaling adaptor activity ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in apical plasma membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in clathrin-coated vesicle IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in clathrin-coated vesicle ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial intermembrane space ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial outer membrane ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in sarcoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in sarcoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in sarcoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
part_of transcription regulator complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
HCLS1-associated protein X-1
Names
HS1 binding protein
HS1-associated protein X-1
HS1-associating protein X-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_001282032.2NP_001268961.1  HCLS1-associated protein X-1 isoform 2

    See identical proteins and their annotated locations for NP_001268961.1

    Status: VALIDATED

    Source sequence(s)
    AC163616
    Consensus CDS
    CCDS79957.1
    UniProtKB/TrEMBL
    A0A0G2JE46, Q3UXX9, Q8R5I5
    Related
    ENSMUSP00000142627.2, ENSMUST00000197786.5
  2. NM_001310681.2NP_001297610.1  HCLS1-associated protein X-1 isoform 3

    See identical proteins and their annotated locations for NP_001297610.1

    Status: VALIDATED

    Source sequence(s)
    AC163616
    Consensus CDS
    CCDS79956.1
    UniProtKB/TrEMBL
    A0A0G2JFF9
  3. NM_001428785.1NP_001415714.1  HCLS1-associated protein X-1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC163616
  4. NM_001428786.1NP_001415715.1  HCLS1-associated protein X-1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC163616
  5. NM_001428787.1NP_001415716.1  HCLS1-associated protein X-1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC163616
  6. NM_011826.5NP_035956.1  HCLS1-associated protein X-1 isoform 1

    See identical proteins and their annotated locations for NP_035956.1

    Status: VALIDATED

    Source sequence(s)
    AC163616
    Consensus CDS
    CCDS17519.1
    UniProtKB/Swiss-Prot
    O35387, Q542F8
    UniProtKB/TrEMBL
    B9EJR4
    Related
    ENSMUSP00000078661.5, ENSMUST00000079724.9

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    89902753..89906023 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036163091.1XP_036018984.1  HCLS1-associated protein X-1 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JDP0
    Related
    ENSMUSP00000142445.2, ENSMUST00000197767.5
  2. XM_006501446.4XP_006501509.1  HCLS1-associated protein X-1 isoform X2

    UniProtKB/TrEMBL
    A0A0G2JFF9
  3. XM_036163092.1XP_036018985.1  HCLS1-associated protein X-1 isoform X3

  4. XM_017319570.3XP_017175059.1  HCLS1-associated protein X-1 isoform X2

    UniProtKB/TrEMBL
    A0A0G2JFF9
    Related
    ENSMUSP00000143155.2, ENSMUST00000198782.2