UBAC1 UBA domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBAC1provided by HGNC
Official Full Name: UBA domain containing 1provided by HGNC
Primary source: HGNC:HGNC:30221
See related: Ensembl:ENSG00000130560 MIM:608129; AllianceGenome:HGNC:30221
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: KPC2; GBDR1; UBADC1
Summary: Enables polyubiquitin modification-dependent protein binding activity and proteasome binding activity. Involved in protein maturation and protein ubiquitination. Located in Golgi apparatus; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 32.5), testis (RPKM 24.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (135932969..135961373, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (148160391..148188795, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (138824815..138853219, complement)

Chromosome 9 - NC_000009.12 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: 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?

UBAC1/KPC2 Regulates TLR3 Signaling in Human Keratinocytes through Functional Interaction with the CARD14/CARMA2sh-TANK Complex.
Title: UBAC1/KPC2 Regulates TLR3 Signaling in Human Keratinocytes through Functional Interaction with the CARD14/CARMA2sh-TANK Complex.
our experiments support that PPP1CB and KPC2 together inhibit the activity of HOXA2 by activating its nuclear export, but favored HOXA2 de-ubiquitination and stabilization thereby establishing a store of HOXA2 in the cytoplasm.
Title: HOXA2 activity regulation by cytoplasmic relocation, protein stabilization and post-translational modification.
AIRE interacts with multiple components of the transcription complex including a novel interaction with the UBA domain protein, GBDR1.
Title: AIRE recruits multiple transcriptional components to specific genomic regions through tethering to nuclear matrix.

Submit: New GeneRIF Correction

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

GDB:434012 (e-PCR)
- UniSTS:157204

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

SHGC-13536 (e-PCR)
- UniSTS:48009

D11S3114 (e-PCR)
- UniSTS:152207

GDB:335751 (e-PCR)
- UniSTS:156601

L17971 (e-PCR)
- UniSTS:43966

UBADC1_9106 (e-PCR)
- UniSTS:468160

A008Y26 (e-PCR)
- UniSTS:56549

D5S1597E (e-PCR)
- UniSTS:151019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables polyubiquitin modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables proteasome binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in 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 Golgi apparatus	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
part_of ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ubiquitin-associated domain-containing protein 1

Names: E3 ubiquitin-protein ligase subunit KPC2; Kip1 ubiquitination-promoting complex subunit 2; UBA domain-containing protein 1; glialblastoma cell differentiation-related protein 1; kip1 ubiquitination-promoting complex protein 2; putative glialblastoma cell differentiation-related protein; testicular secretory protein Li 64; ubiquitin associated domain containing 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)

NM_016172.3 → NP_057256.2 ubiquitin-associated domain-containing protein 1

See identical proteins and their annotated locations for NP_057256.2

Status: VALIDATED

Source sequence(s)

AL355574

Consensus CDS

CCDS35177.1

UniProtKB/Swiss-Prot

O75500, Q9BSL1, Q9UMW7

UniProtKB/TrEMBL

A0A140VK64

Related

ENSP00000360821.3, ENST00000371756.4

Conserved Domains (3) summary

smart00727
Location:353 → 392

STI1; Heat shock chaperonin-binding motif

cd14303
Location:195 → 232

UBA1_KPC2; UBA1 domain found in Kip1 ubiquitination-promoting complex protein 2 (KPC2) and similar proteins

cd14304
Location:290 → 327

UBA2_KPC2; UBA2 domain found in Kip1 ubiquitination-promoting complex protein 2 (KPC2) and similar proteins