Hnrnpu MGI Mouse Gene Detail - MGI:1858195 - heterogeneous nuclear ribonucleoprotein U

Symbol

Hnrnpu
Name

heterogeneous nuclear ribonucleoprotein U
Synonyms

Hnrpu, scaffold attachment factor A, Sp120

Feature Type

protein coding gene
IDs

MGI:1858195
NCBI Gene: 51810
Gene Overview

MyGene.info: HNRNPU
Alliance

gene page
Transcription Start Sites

22 TSS

Sequence Map

Chr1:178321108-178337797 bp, - strand
From Ensembl annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 83.16 cM
Mapping Data

3 experiments

SNPs within 2kb

57 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1858195	protein coding gene	Chr1:178321108-178338891 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016855	protein coding gene	Chr1:184609947-184623453 (-)
A/J	MGP_AJ_G0016833	protein coding gene	Chr1:177184762-177198114 (-)
AKR/J	MGP_AKRJ_G0016799	protein coding gene	Chr1:182465589-182479029 (-)
BALB/cJ	MGP_BALBcJ_G0016791	protein coding gene	Chr1:177818361-177831815 (-)
C3H/HeJ	MGP_C3HHeJ_G0016616	protein coding gene	Chr1:183198912-183212366 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0017255	protein coding gene	Chr1:190614953-190628407 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014962	protein coding gene	Chr1:168194356-168207756 (-)
CAST/EiJ	MGP_CASTEiJ_G0016197	protein coding gene	Chr1:182483162-182497873 (-)
CBA/J	MGP_CBAJ_G0016590	protein coding gene	Chr1:197703333-197716786 (-)
DBA/2J	MGP_DBA2J_G0016696	protein coding gene	Chr1:176041851-176055305 (-)
FVB/NJ	MGP_FVBNJ_G0016692	protein coding gene	Chr1:174119515-174132969 (-)
LP/J	MGP_LPJ_G0016770	protein coding gene	Chr1:185886295-185899811 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016723	protein coding gene	Chr1:204877052-204892903 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017291	protein coding gene	Chr1:182180908-182194362 (-)
PWK/PhJ	MGP_PWKPhJ_G0015985	protein coding gene	Chr1:175095760-175109213 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015761	protein coding gene	Chr1:181134318-181149849 (-)
WSB/EiJ	MGP_WSBEiJ_G0016260	protein coding gene	Chr1:182403771-182417286 (-)

Human Ortholog

HNRNPU, heterogeneous nuclear ribonucleoprotein U

Vertebrate Orthologs

10

Human Ortholog

HNRNPU, heterogeneous nuclear ribonucleoprotein U
Orthology source: HomoloGene, HGNC
Synonyms

DEE54, EIEE54, GRIP120, hnRNP U, HNRNPU-AS1, HNRPU, pp120, SAFA, SAF-A, U21.1
Links

HGNC:5048

NCBI Gene ID: 3192

neXtProt AC: NX_Q00839

UniProt: Q00839
Chr Location

1q44; chr1:244842123-244864720 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 22991
1 human;1 mouse;1 rat;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: HNRNPU
Gene Tree

Hnrnpu

Diseases

1 with human HNRNPU associations

				Human Disease	Mouse Models
				developmental and epileptic encephalopathy 54 IDs developmental and epileptic encephalopathy 54 DOID:0080418 OMIM:617391

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

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Phenotype Summary

24 phenotypes from 2 alleles in 4 genetic backgrounds
1 phenotype from multigenic genotypes
3 images
7 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

7
Chemically induced (other)

2
Gene trapped

1
Targeted

4
Genomic Mutations

2 involving Hnrnpu
Incidental Mutations

Mutagenetix , CvDC
Find Mice (IMSR)

10 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a gene trap allele display embryonic lethality, delayed embryonic development, and failure of chorioallantoic fusion.

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All GO Annotations

144
GO References

15

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

658
Tissues

27
cDNA Data

35
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase hnrnpu

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Hnrnpu interacts with 345 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

96
RefSeq

11
UniProt

11
CCDS

CCDS35804.1

Ensembl

ENSMUSG00000039630 (Evidence)
NCBI Gene

51810

			Length	Strain/Species	Flank
genomic	ENSMUSG00000039630	Ensembl Gene Model \| MGI Sequence Detail	16690	C57BL/6J	± kb
transcript	ENSMUST00000037748	Ensembl \| MGI Sequence Detail	7640	Not Applicable
polypeptide	ENSMUSP00000047571	Ensembl \| MGI Sequence Detail	800	Not Applicable

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UniProt

11 Sequences
Protein Ontology

PR:000008673 heterogeneous nuclear ribonucleoprotein U

(term hierarchy)
InterPro Domains

IPR001870 B30.2/SPRY domain

IPR043136 B30.2/SPRY domain superfamily

IPR013320 Concanavalin A-like lectin/glucanase domain superfamily

IPR026745 Heterogeneous nuclear ribonucleoprotein U

IPR035778 Heterogeneous nuclear ribonucleoprotein U, SPRY domain

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR003034 SAP domain

IPR036361 SAP domain superfamily

IPR003877 SPRY domain

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All nucleic 36

cDNA 35

Primer pair 1

Microarray probesets 5

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MGI:2138082, MGI:2138186, MGI:2138396, MGI:2138400, MGI:2138619, MGI:2138718, MGI:2146028

Summaries

All 54

Developmental Gene Expression 6

Gene Ontology 15

Phenotypes 7
Earliest

J:151685 von Melchner H, et al., Selective disruption of genes expressed in totipotent embryonal stem cells. Genes Dev. 1992 Jun;6(6):919-27
Latest

J:257461 Lai B, et al., Haploinsufficiency of hnRNP U Changes Activity Pattern and Metabolic Rhythms. Am J Pathol. 2018 Jan;188(1):173-183

TSS for Hnrnpu:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr318	Chr1:178337804-178337816 (-)	-13 bp
Tssr15492	Chr1:178337774-178337794 (-)	13 bp
Tssr15491	Chr1:178337740-178337761 (-)	46 bp
Tssr15489	Chr1:178337673-178337694 (-)	113 bp
Tssr15483	Chr1:178336397-178336408 (-)	1,394 bp
Tssr15482	Chr1:178336145-178336164 (-)	1,642 bp
Tssr15481	Chr1:178336068-178336093 (-)	1,716 bp
Tssr15480	Chr1:178334555-178334565 (-)	3,237 bp
Tssr15479	Chr1:178333927-178333966 (-)	3,850 bp
Tssr15478	Chr1:178333640-178333651 (-)	4,151 bp
Tssr15477	Chr1:178333571-178333605 (-)	4,209 bp
Tssr15476	Chr1:178333026-178333040 (-)	4,764 bp
Tssr15475	Chr1:178332304-178332317 (-)	5,486 bp
Tssr15474	Chr1:178332234-178332296 (-)	5,532 bp
Tssr15473	Chr1:178332187-178332204 (-)	5,601 bp
Tssr15472	Chr1:178332121-178332140 (-)	5,666 bp
Tssr15471	Chr1:178331937-178331962 (-)	5,847 bp
Tssr15470	Chr1:178331456-178331478 (-)	6,330 bp
Tssr15469	Chr1:178331196-178331207 (-)	6,595 bp
Tssr15468	Chr1:178331122-178331137 (-)	6,667 bp
Tssr15467	Chr1:178329178-178329193 (-)	8,611 bp
Tssr15466	Chr1:178329056-178329068 (-)	8,735 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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