ASB9 ankyrin repeat and SOCS box containing 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASB9provided by HGNC
Official Full Name: ankyrin repeat and SOCS box containing 9provided by HGNC
Primary source: HGNC:HGNC:17184
See related: Ensembl:ENSG00000102048 MIM:300890; AllianceGenome:HGNC:17184
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Expression: Biased expression in testis (RPKM 16.8), kidney (RPKM 5.8) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (15243987..15270467, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (14826046..14853350, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (15262109..15288589, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ubiquitin protein E3 ligase ASB9 suppresses proliferation and promotes apoptosis in human spermatogonial stem cell line by inducing HIF1AN degradation.
Title: Ubiquitin protein E3 ligase ASB9 suppresses proliferation and promotes apoptosis in human spermatogonial stem cell line by inducing HIF1AN degradation.
Structure and dynamics of the ASB9 CUL-RING E3 Ligase.
Title: Structure and dynamics of the ASB9 CUL-RING E3 Ligase.
Model of ASB9 in complex with its substrate, creatine kinase, reveals a mechanism for dynamic ubiquitin transfer.
Title: Model of the Ankyrin and SOCS Box Protein, ASB9, E3 Ligase Reveals a Mechanism for Dynamic Ubiquitin Transfer.
Molecular docking yielded a structural model consistent with all of the data that suggested the N-terminal residues of ASB9(1-252) may lie in one CK active site. This model was corroborated by enzymatic activity assays and mutational analysis.
Title: How the ankyrin and SOCS box protein, ASB9, binds to creatine kinase.
ASB9 is unstable alone but forms a stable ternary complex with EloBC that binds with high affinity to the Cullin 5 N-terminal domain.
Title: Multimeric complexes among ankyrin-repeat and SOCS-box protein 9 (ASB9), ElonginBC, and Cullin 5: insights into the structure and assembly of ECS-type Cullin-RING E3 ubiquitin ligases.
His103 and Phe107 in hASB9-2 are essential for binding to CKB.
Title: Crystal structure of Human ASB9-2 and substrate-recognition of CKB.
The results of the present study suggest that ASB9 is a useful prognostic marker for colorectal cancer
Title: Clinical significance of ASB9 in human colorectal cancer.
ASB9 interacts with the creatine kinase system and negatively regulates cell growth.
Title: ASB9 interacts with ubiquitous mitochondrial creatine kinase and inhibits mitochondrial function.
The purified ASB9-2 protein, the splice variant of ASB9 with only one ankyrin repeat domain, was crystallized and diffracted to 2.2A resolution.
Title: Crystallization and preliminary X-ray analysis of the splice variant of human ankyrin repeat and suppressor of cytokine signaling box protein 9 (hASB9-2).
The splice variant of hASB9, hASB9-2 protein, was cloned, overexpressed, and crystallized and the data showed that the cubic hASB9-2 crystal belongs to space group P4(3)32 with unit-cell parameters.
Title: Crystallization and preliminary X-ray analysis of the splice variant of human ankyrin repeat and suppressor of cytokine signaling box protein 9 (hASB9-2).

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102971 (e-PCR)
- UniSTS:97305

SHGC-145813 (e-PCR)
- UniSTS:174808

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 intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ankyrin repeat and SOCS box protein 9

Names: ASB-9; ankyrin repeat and suppressor of cytokine signaling box protein 9; testis tissue sperm-binding protein Li 57p

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.

Genomic

NG_016218.1 RefSeqGene

Range

5385..31481

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001031739.3 → NP_001026909.1 ankyrin repeat and SOCS box protein 9 isoform 1

See identical proteins and their annotated locations for NP_001026909.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

BC001244, BC013172, DA943920

Consensus CDS

CCDS35208.1

UniProtKB/Swiss-Prot

A8K8A5, Q96DX5, Q9BVF5, Q9NWS5, Q9Y4T3

UniProtKB/TrEMBL

A0A024RBW7

Related

ENSP00000369855.4, ENST00000380488.9

Conserved Domains (4) summary

cd00204
Location:63 → 187

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 ...

cd03728
Location:253 → 294

SOCS_ASB_9_11; SOCS (suppressors of cytokine signaling) box of ASB9 and 11 proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. The general function of the SOCS box is the recruitment of the ubiquitin-transferase system. ...

sd00045
Location:35 → 66

ANK; ANK repeat [structural motif]

cl26073
Location:147 → 235

Ank_2; Ankyrin repeats (3 copies)
NM_001168530.2 → NP_001162002.1 ankyrin repeat and SOCS box protein 9 isoform 3

See identical proteins and their annotated locations for NP_001162002.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses two alternate splice sites in the coding region, one of which results in a frameshift, compared to variant 1. The resulting protein (isoform 3) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

BC001244, DA943920

Consensus CDS

CCDS55372.1

Related

ENSP00000369850.3, ENST00000380483.7

Conserved Domains (4) summary

cd00204
Location:37 → 177

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:41 → 128

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:159 → 208

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:35 → 66

ANK; ANK repeat [structural motif]
NM_001168531.2 → NP_001162003.1 ankyrin repeat and SOCS box protein 9 isoform 2

See identical proteins and their annotated locations for NP_001162003.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1. Both variants 2 and 4 encode the same isoform (2).

Source sequence(s)

AK292270, BC001244

Consensus CDS

CCDS14163.1

UniProtKB/TrEMBL

Q7Z4A2

Related

ENSP00000438943.1, ENST00000546332.1

Conserved Domains (4) summary

cd00204
Location:63 → 187

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:73 → 163

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:37 → 89

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:35 → 66

ANK; ANK repeat [structural motif]
NM_024087.3 → NP_076992.1 ankyrin repeat and SOCS box protein 9 isoform 2

See identical proteins and their annotated locations for NP_076992.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1. Both variants 2 and 4 encode the same isoform (2).

Source sequence(s)

AK000643, BC001244, DA943920

Consensus CDS

CCDS14163.1

UniProtKB/TrEMBL

Q7Z4A2

Related

ENSP00000369852.3, ENST00000380485.7

Conserved Domains (4) summary

cd00204
Location:63 → 187

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:73 → 163

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:37 → 89

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:35 → 66

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

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

15243987..15270467 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017029284.2 → XP_016884773.1 ankyrin repeat and SOCS box protein 9 isoform X2
XM_017029283.2 → XP_016884772.1 ankyrin repeat and SOCS box protein 9 isoform X1
XM_047441842.1 → XP_047297798.1 ankyrin repeat and SOCS box protein 9 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

14826046..14853350 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054326512.1 → XP_054182487.1 ankyrin repeat and SOCS box protein 9 isoform X2
XM_054326511.1 → XP_054182486.1 ankyrin repeat and SOCS box protein 9 isoform X1
XM_054326513.1 → XP_054182488.1 ankyrin repeat and SOCS box protein 9 isoform X3