Hif1a MGI Mouse Gene Detail - MGI:106918 - hypoxia inducible factor 1, alpha subunit

Symbol

Hif1a
Name

hypoxia inducible factor 1, alpha subunit
Synonyms

bHLHe78, HIF-1alpha, HIF1alpha, MOP1

Feature Type

protein coding gene
IDs

MGI:106918
NCBI Gene: 15251
Alliance

gene page
Transcription Start Sites

39 TSS

Sequence Map

Chr12:73948186-73994304 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 31.99 cM
Mapping Data

9 experiments

SNPs within 2kb

857 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_106918	protein coding gene	Chr12:73948149-73994304 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019840	protein coding gene	Chr12:73853001-73890619 (+)
A/J	MGP_AJ_G0019798	protein coding gene	Chr12:71080122-71119567 (+)
AKR/J	MGP_AKRJ_G0019773	protein coding gene	Chr12:73221560-73261185 (+)
BALB/cJ	MGP_BALBcJ_G0019778	protein coding gene	Chr12:71559315-71598947 (+)
C3H/HeJ	MGP_C3HHeJ_G0019583	protein coding gene	Chr12:73687518-73726741 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020230	protein coding gene	Chr12:76126794-76167943 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017848	protein coding gene	Chr12:68519698-68559210 (+)
CAST/EiJ	MGP_CASTEiJ_G0019135	protein coding gene	Chr12:68468141-68507271 (+)
CBA/J	MGP_CBAJ_G0019553	protein coding gene	Chr12:79072334-79112047 (+)
DBA/2J	MGP_DBA2J_G0019669	protein coding gene	Chr12:70966729-71006860 (+)
FVB/NJ	MGP_FVBNJ_G0019656	protein coding gene	Chr12:69810835-69850277 (+)
LP/J	MGP_LPJ_G0019741	protein coding gene	Chr12:73854528-73900722 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019695	protein coding gene	Chr12:82153592-82193470 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020265	protein coding gene	Chr12:72717376-72756718 (+)
PWK/PhJ	MGP_PWKPhJ_G0018900	protein coding gene	Chr12:65293378-65331889 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018695	protein coding gene	Chr12:67158105-67203030 (+)
WSB/EiJ	MGP_WSBEiJ_G0019186	protein coding gene	Chr12:73313050-73353168 (+)

Human Ortholog

HIF1A, hypoxia inducible factor 1 subunit alpha

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HIF1A, hypoxia inducible factor 1 subunit alpha
Synonyms

bHLHe78, HIF1, HIF-1A, HIF-1-alpha, HIF1-ALPHA, HIF-1alpha, MOP1, PASD8
Links

HGNC:4910

NCBI Gene ID: 3091

neXtProt AC: NX_Q16665

UniProt: Q16665
Chr Location

14q23.2; chr14:61695513-61748259 (+) GRCh38

MGI Vertebrate Homology

Hif1a stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: HIF1A
Gene Tree

Hif1a

Diseases

2 with Hif1a mouse models; 4 with human HIF1A associations

Human Disease

Mouse Models

glycogen storage disease V

IDs

View 1 model

glycogen storage disease VII

IDs

View 1 model

lung non-small cell carcinoma

IDs

myocardial infarction

IDs

prostate cancer

IDs

type 2 diabetes mellitus

IDs

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

Mutations/Alleles

1 with disease annotations

References

3 with disease annotations

less

Phenotype Summary

177 phenotypes from 9 alleles in 21 genetic backgrounds
42 phenotypes from multigenic genotypes
558 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

29
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

10
Targeted

14
Genomic Mutations

1 involving Hif1a
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

50 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mutants die during embryonic development with severe cardiovascular malformations, neural tube defects, cephalic defects, reduced somite number and increased hypoxia.

less

All GO Annotations

238
GO References

61

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.

less

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

1133
Tissues

236
cDNA Data

26
Literature Summary

179

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA HIF1A

Xenbase hif1a

ZFIN hif1aa, hif1ab

less

All Sequences

69
RefSeq

12
UniProt

5
CCDS

CCDS25977.1, CCDS83968.1

Ensembl

ENSMUSG00000021109 (Evidence)
NCBI Gene

15251

			Length	Strain/Species	Flank
genomic	15251	NCBI Gene Model \| MGI Sequence Detail	46119	C57BL/6J	± kb
transcript	NM_001313919	RefSeq \| MGI Sequence Detail	4630	ZRU/MplStud
polypeptide	Q61221	UniProt \| EBI \| MGI Sequence Detail	836	Not Applicable

less

UniProt

5 Sequences
Protein Ontology

PR:000008555 hypoxia-inducible factor 1-alpha

(term hierarchy)
PDB

4ZPR
InterPro Domains

IPR036638 Helix-loop-helix DNA-binding domain superfamily

IPR014887 HIF-1 alpha, C-terminal transactivation domain

IPR001321 Hypoxia-inducible factor-1 alpha

IPR021537 Hypoxia-inducible factor, alpha subunit-like

IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain

IPR001610 PAC motif

IPR000014 PAS domain

IPR035965 PAS domain superfamily

IPR013767 PAS fold

IPR013655 PAS fold-3

less

All nucleic 68

Genomic 21

cDNA 31

Primer pair 12

Other 4

Microarray probesets 7

less

MGD-MRK-35379, MGI:2144750

Summaries

All 1062

Developmental Gene Expression 179

Diseases 3

Gene Ontology 61

Phenotypes 558
Earliest

J:12228 Obara N, et al., Expression of neural cell adhesion molecule (NCAM) during the first molar development in the mouse. Anat Embryol (Berl). 1993 Mar;187(3):209-19
Latest

J:357377 Ghosh R, et al., Sequestosome 1 (p62) mitigates hypoxia-induced cardiac dysfunction by stabilizing hypoxia-inducible factor 1alpha and nuclear factor erythroid 2-related factor 2. Cardiovasc Res. 2024 Apr 30;120(5):531-547

TSS for Hif1a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr113832	Chr12:73948093-73948098 (+)	-90 bp
Tssr113833	Chr12:73948122-73948139 (+)	-55 bp
Tssr113834	Chr12:73948144-73948165 (+)	-31 bp
Tssr113835	Chr12:73948176-73948193 (+)	-1 bp
Tssr113836	Chr12:73948209-73948216 (+)	27 bp
Tssr113837	Chr12:73949412-73949415 (+)	1,228 bp
Tssr113838	Chr12:73954733-73954744 (+)	6,553 bp
Tssr113839	Chr12:73954748-73954789 (+)	6,583 bp
Tssr113840	Chr12:73954829-73954840 (+)	6,649 bp
Tssr113841	Chr12:73954934-73954944 (+)	6,753 bp
Tssr113842	Chr12:73954959-73955010 (+)	6,799 bp
Tssr113843	Chr12:73955149-73955155 (+)	6,966 bp
Tssr113848	Chr12:73966120-73966130 (+)	17,939 bp
Tssr113849	Chr12:73969876-73969879 (+)	21,692 bp
Tssr113850	Chr12:73970013-73970024 (+)	21,833 bp
Tssr113851	Chr12:73974137-73974149 (+)	25,957 bp
Tssr113852	Chr12:73974186-73974197 (+)	26,006 bp
Tssr113853	Chr12:73974971-73974985 (+)	26,792 bp
Tssr113854	Chr12:73977473-73977485 (+)	29,293 bp
Tssr113855	Chr12:73978334-73978345 (+)	30,154 bp
Tssr113856	Chr12:73982974-73982997 (+)	34,800 bp
Tssr113857	Chr12:73984433-73984445 (+)	36,253 bp
Tssr113858	Chr12:73984490-73984506 (+)	36,312 bp
Tssr113859	Chr12:73987318-73987348 (+)	39,147 bp
Tssr113860	Chr12:73987357-73987369 (+)	39,177 bp
Tssr113861	Chr12:73988470-73988512 (+)	40,305 bp
Tssr113862	Chr12:73988528-73988556 (+)	40,356 bp
Tssr113863	Chr12:73988564-73988583 (+)	40,388 bp
Tssr113864	Chr12:73988598-73988605 (+)	40,416 bp
Tssr113865	Chr12:73988743-73988770 (+)	40,571 bp
Tssr113866	Chr12:73988822-73988839 (+)	40,645 bp
Tssr113867	Chr12:73989029-73989040 (+)	40,849 bp
Tssr113868	Chr12:73992434-73992448 (+)	44,255 bp
Tssr113869	Chr12:73992457-73992490 (+)	44,288 bp
Tssr113870	Chr12:73992536-73992560 (+)	44,362 bp
Tssr113871	Chr12:73992561-73992581 (+)	44,385 bp
Tssr113872	Chr12:73992804-73992822 (+)	44,627 bp
Tssr113873	Chr12:73993057-73993074 (+)	44,880 bp
Tssr113874	Chr12:73993085-73993102 (+)	44,908 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24