Ahnak AHNAK nucleoprotein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ahnakprovided by MGI
Official Full Name: AHNAK nucleoproteinprovided by MGI
Primary source: MGI:MGI:1316648
See related: Ensembl:ENSMUSG00000069833 AllianceGenome:MGI:1316648
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: DY6
Summary: Enables structural molecule activity conferring elasticity. Involved in regulation of RNA splicing. Located in costamere; cytosol; and nucleus. Is expressed in several structures, including alimentary system; cardiovascular system; egg cylinder; embryo ectoderm; and genitourinary system. Orthologous to human AHNAK (AHNAK nucleoprotein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in bladder adult (RPKM 56.2), lung adult (RPKM 31.1) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 6.04 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (8966640..9054299)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (8989284..9076935)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ahnak depletion accelerates liver regeneration by modulating the TGF-beta/Smad signaling pathway.
Title: Ahnak depletion accelerates liver regeneration by modulating the TGF-β/Smad signaling pathway.
Ahnak deficiency attenuates high-fat diet-induced fatty liver in mice through FGF21 induction.
Title: Ahnak deficiency attenuates high-fat diet-induced fatty liver in mice through FGF21 induction.
Proprotein convertase subtilisin/kexin Type 9 is required for Ahnak-mediated metastasis of melanoma into lung epithelial cells.
Title: Proprotein convertase subtilisin/kexin Type 9 is required for Ahnak-mediated metastasis of melanoma into lung epithelial cells.
Ahnak scaffolds p11/Anxa2 complex and L-type voltage-gated calcium channel and modulates depressive behavior.
Title: Ahnak scaffolds p11/Anxa2 complex and L-type voltage-gated calcium channel and modulates depressive behavior.
TGFbeta-Ahnak signaling axis regulates epithelial-mesenchymal transition during tumor metastasis.
Title: Ahnak promotes tumor metastasis through transforming growth factor-β-mediated epithelial-mesenchymal transition.
Immortalized Ahnak knock-out SVF cells showed lower level of Bmpr1alpha expression.
Title: Essential role of Ahnak in adipocyte differentiation leading to the transcriptional regulation of Bmpr1α expression.
Ahnak1 plays a protective role in vascular healing after wire injuries.
Title: Protective Function of Ahnak1 in Vascular Healing after Wire Injury.
Findings suggest an important role of AHNAK in the regulation of thermogenesis and lipolysis in white adipose tissue via beta-adrenergic signaling.
Title: AHNAK deficiency promotes browning and lipolysis in mice via increased responsiveness to β-adrenergic signalling.
AHNAK plays a crucial role in body fat accumulation by regulating adipose tissue development via interaction with the SMAD1 protein and can be involved in metabolic homeostasis
Title: Obesity Resistance and Enhanced Insulin Sensitivity in Ahnak-/- Mice Fed a High Fat Diet Are Related to Impaired Adipogenesis and Increased Energy Expenditure.
inhibition of Ahnak can promote generation of induced pluripotent stem cells (iPSC) via up-regulation of endogenous c-Myc.
Title: Regulation of c-Myc Expression by Ahnak Promotes Induced Pluripotent Stem Cell Generation.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

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

Targeted (5) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH140140 (e-PCR)
- UniSTS:222219

RH125575 (e-PCR)
- UniSTS:162389

AHNAK (e-PCR)
- UniSTS:71820

D1Bda59 (e-PCR)
- UniSTS:239812

AV091586 (e-PCR)
- UniSTS:181198

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables S100 protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity conferring elasticity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of plasma membrane repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of RNA splicing	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of RNA splicing	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in actin cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cell-cell contact zone	ISO Inferred from Sequence Orthology more info
located_in cell-cell contact zone	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cell-cell junction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in costamere	IBA Inferred from Biological aspect of Ancestor more info
located_in costamere	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in extracellular exosome	ISO Inferred from Sequence Orthology more info
colocalizes_with membrane raft	ISO Inferred from Sequence Orthology more info
colocalizes_with membrane raft	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of plasma membrane protein complex	EXP Inferred from Experiment more info	PubMed
part_of plasma membrane protein complex	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
located_in vesicle	ISO Inferred from Sequence Orthology more info
located_in vesicle	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: neuroblast differentiation-associated protein AHNAK

Names: desmoyokin

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)

NM_001039959.3 → NP_001035048.1 neuroblast differentiation-associated protein AHNAK isoform 3

See identical proteins and their annotated locations for NP_001035048.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the shortest transcript and encodes the shortest isoform (3).

Source sequence(s)

AC130819

Consensus CDS

CCDS50384.1

UniProtKB/TrEMBL

A0A494B8Y7, G5E8K8

Related

ENSMUSP00000090632.4, ENSMUST00000092955.11

Conserved Domains (1) summary

cl00117
Location:23 → 91

PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...
NM_001286518.2 → NP_001273447.1 neuroblast differentiation-associated protein AHNAK isoform 4

See identical proteins and their annotated locations for NP_001273447.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate exon that results in differences in its 3' UTR and 3' coding region, compared to variant 3. The encoded isoform (4) has a longer an distinct C--terminus, compared to isoform 3.

Source sequence(s)

AC130819

UniProtKB/TrEMBL

A0A494B8Y7, Q8R2L7

Related

ENSMUST00000237033.2

Conserved Domains (1) summary

cl00117
Location:23 → 91

PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...
NM_009643.3 → NP_033773.1 neuroblast differentiation-associated protein AHNAK isoform 1

See identical proteins and their annotated locations for NP_033773.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks part of the 3' coding region and uses an alternate 3'-terminal exon, compared to variant 3. The encoded isoform (1) has a longer and distinct C-terminus, compared to isoform 3.

Source sequence(s)

AC130819

Consensus CDS

CCDS29564.1

UniProtKB/TrEMBL

E9Q616

Related

ENSMUSP00000090633.3, ENSMUST00000092956.4

Conserved Domains (3) summary

COG2911
Location:4902 → 5412

TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]

pfam05109
Location:4591 → 4783

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

cl00117
Location:23 → 91

PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

RNA

NR_104460.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC130819

Related

ENSMUST00000237912.2

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

NC_000085.7 Reference GRCm39 C57BL/6J

Range

8966640..9054299

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006527256.5 → XP_006527319.1 neuroblast differentiation-associated protein AHNAK isoform X3

Conserved Domains (3) summary

COG2911
Location:2569 → 3079

TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]

pfam05109
Location:2258 → 2450

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

cl00117
Location:23 → 91

PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...
XM_017318272.2 → XP_017173761.1 neuroblast differentiation-associated protein AHNAK isoform X2

Conserved Domains (3) summary

COG2911
Location:3856 → 4366

TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]

pfam05109
Location:3545 → 3737

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

cl00117
Location:23 → 91

PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...
XM_006527253.5 → XP_006527316.1 neuroblast differentiation-associated protein AHNAK isoform X1

See identical proteins and their annotated locations for XP_006527316.1

UniProtKB/TrEMBL

E9Q616

Conserved Domains (3) summary

COG2911
Location:4902 → 5412

TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]

pfam05109
Location:4591 → 4783

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

cl00117
Location:23 → 91

PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

RNA

XR_877686.4 RNA Sequence
XR_004940166.1 RNA Sequence
XR_877685.4 RNA Sequence
XR_877684.4 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_175108.3: Suppressed sequence

Description

NM_175108.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.