Ubap1 MGI Mouse Gene Detail - MGI:2149543 - ubiquitin-associated protein 1

Symbol

Ubap1
Name

ubiquitin-associated protein 1
Synonyms

2700092A01Rik, NAG20

Feature Type

protein coding gene
IDs

MGI:2149543
NCBI Gene: 67123
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr4:41348996-41389766 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 21.43 cM, cytoband B1
Mapping Data

2 experiments

SNPs within 2kb

934 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2149543	protein coding gene	Chr4:41348996-41390525 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028159	protein coding gene	Chr4:39289981-39336150 (+)
A/J	MGP_AJ_G0028117	protein coding gene	Chr4:37797544-37839502 (+)
AKR/J	MGP_AKRJ_G0028080	protein coding gene	Chr4:38773215-38817096 (+)
BALB/cJ	MGP_BALBcJ_G0028129	protein coding gene	Chr4:38128212-38172350 (+)
C3H/HeJ	MGP_C3HHeJ_G0027857	protein coding gene	Chr4:39320735-39367856 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028570	protein coding gene	Chr4:40743462-40792918 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025911	protein coding gene	Chr4:35450259-35494155 (+)
CAST/EiJ	MGP_CASTEiJ_G0027313	protein coding gene	Chr4:38992815-39039383 (+)
CBA/J	MGP_CBAJ_G0027829	protein coding gene	Chr4:42137317-42185227 (+)
DBA/2J	MGP_DBA2J_G0027973	protein coding gene	Chr4:37717938-37763071 (+)
FVB/NJ	MGP_FVBNJ_G0027940	protein coding gene	Chr4:37050060-37092902 (+)
LP/J	MGP_LPJ_G0028081	protein coding gene	Chr4:39358979-39408526 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027973	protein coding gene	Chr4:45447885-45494032 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028629	protein coding gene	Chr4:38890360-38933663 (+)
PWK/PhJ	MGP_PWKPhJ_G0027032	protein coding gene	Chr4:37742471-37791594 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0026859	protein coding gene	Chr4:38615411-38661654 (+)
WSB/EiJ	MGP_WSBEiJ_G0027389	protein coding gene	Chr4:38869593-38916544 (+)

Human Ortholog

UBAP1, ubiquitin associated protein 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

UBAP1, ubiquitin associated protein 1
Synonyms

NAG20, SPG80, UAP, UBAP, UBAP-1
Links

HGNC:12461

NCBI Gene ID: 51271

neXtProt AC: NX_Q9NZ09

UniProt: Q9NZ09
Chr Location

9p13.3; chr9:34179005-34252523 (+) GRCh38

MGI Vertebrate Homology

Ubap1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: UBAP1
Gene Tree

Ubap1

Diseases

1 with Ubap1 mouse models; 1 with human UBAP1 associations

Human Disease

Mouse Models

hereditary spastic paraplegia 80

IDs

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

10 phenotypes from 2 alleles in 2 genetic backgrounds
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

37
Chemically and radiation induced

1
Endonuclease-mediated

4
Gene trapped

30
Targeted

2
Genomic Mutations

1 involving Ubap1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

47 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for an allele lacking the SOUBA domain exhibit prenatal lethality. Heterozygotes lacking the SOUBA domain develop progressive hindlimb dysfunction, loss of neurons in the spinal cord and model spastic paraplegia 80.

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All GO Annotations

17
GO References

5

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

11
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ubap1

ZFIN ubap1

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All Sequences

69
RefSeq

14
UniProt

3
CCDS

CCDS51140.1, CCDS71361.1

Ensembl

ENSMUSG00000028437 (Evidence)
NCBI Gene

67123

			Length	Strain/Species	Flank
genomic	67123	NCBI Gene Model \| MGI Sequence Detail	40771	C57BL/6J	± kb
transcript	NM_001355508	RefSeq \| MGI Sequence Detail	5554	C57BL/6
polypeptide	Q8BH48	UniProt \| EBI \| MGI Sequence Detail	502	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000016958 ubiquitin-associated protein 1

(term hierarchy)
InterPro Domains

IPR009060 UBA-like superfamily

IPR015940 Ubiquitin-associated domain

IPR038870 Ubiquitin-associated protein 1

IPR042575 Ubiquitin-associated protein 1, C-terminal

IPR049467 Ubiquitin-associated protein 1-like, UBA2 domain

IPR023340 UMA domain

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All nucleic 11

cDNA 11

Microarray probesets 6

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MGI:1914373

Summaries

All 41

Developmental Gene Expression 1

Diseases 1

Gene Ontology 5

Phenotypes 13
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:346057 Lu D, et al., ESCRT-I protein UBAP1 controls ventricular expansion and cortical neurogenesis via modulating adherens junctions of radial glial cells. Cell Rep. 2024 Feb 24;43(3):113818

TSS for Ubap1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr36861	Chr4:41348997-41349008 (+)	7 bp
Tssr36862	Chr4:41349028-41349064 (+)	50 bp
Tssr36863	Chr4:41349305-41349322 (+)	318 bp
Tssr36864	Chr4:41352609-41352615 (+)	3,616 bp
Tssr36865	Chr4:41355866-41355872 (+)	6,873 bp
Tssr36866	Chr4:41358885-41358899 (+)	9,896 bp
Tssr36867	Chr4:41369587-41369590 (+)	20,593 bp
Tssr36868	Chr4:41372318-41372320 (+)	23,323 bp
Tssr36869	Chr4:41379540-41379559 (+)	30,554 bp
Tssr36870	Chr4:41388025-41388041 (+)	39,037 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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