P4htm MGI Mouse Gene Detail - MGI:1921693 - prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)

Symbol

P4htm
Name

prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
Synonyms

4933406E20Rik, P4h-tm

Feature Type

protein coding gene
IDs

MGI:1921693
NCBI Gene: 74443
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr9:108456061-108474866 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 59.52 cM
Mapping Data

2 experiments

SNPs within 2kb

506 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1921693	protein coding gene	Chr9:108456025-108475482 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0035308	protein coding gene	Chr9:110546225-110566654 (-)
A/J	MGP_AJ_G0035287	protein coding gene	Chr9:106495090-106513054 (-)
AKR/J	MGP_AKRJ_G0035219	protein coding gene	Chr9:109164184-109188094 (-)
BALB/cJ	MGP_BALBcJ_G0035281	protein coding gene	Chr9:106190554-106210545 (-)
C3H/HeJ	MGP_C3HHeJ_G0034991	protein coding gene	Chr9:109565532-109585491 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0035801	protein coding gene	Chr9:113560911-113580443 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032699	protein coding gene	Chr9:103923279-103942447 (-)
CAST/EiJ	MGP_CASTEiJ_G0034302	protein coding gene	Chr9:109523529-109546888 (-)
CBA/J	MGP_CBAJ_G0034959	protein coding gene	Chr9:117567097-117586653 (-)
DBA/2J	MGP_DBA2J_G0035120	protein coding gene	Chr9:105954055-105972162 (-)
FVB/NJ	MGP_FVBNJ_G0035068	protein coding gene	Chr9:104715722-104737751 (-)
LP/J	MGP_LPJ_G0035196	protein coding gene	Chr9:110740802-110760970 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035107	protein coding gene	Chr9:119139207-119159690 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035822	protein coding gene	Chr9:109442979-109462855 (-)
PWK/PhJ	MGP_PWKPhJ_G0034009	protein coding gene	Chr9:106279535-106298500 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0033844	protein coding gene	Chr9:109505667-109526254 (-)
WSB/EiJ	MGP_WSBEiJ_G0034423	protein coding gene	Chr9:109324716-109345172 (-)

Human Ortholog

P4HTM, prolyl 4-hydroxylase, transmembrane

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

P4HTM, prolyl 4-hydroxylase, transmembrane
Synonyms

EGLN4, HIDEA, HIFPH4, P4H-TM, PH-4, PH4, PHD4
Links

HGNC:28858

NCBI Gene ID: 54681

neXtProt AC: NX_Q9NXG6

UniProt: Q9NXG6
Chr Location

3p21.31; chr3:48989889-49007153 (+) GRCh38

MGI Vertebrate Homology

P4htm stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: P4HTM
Gene Tree

P4htm

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
3 phenotypes from multigenic genotypes
9 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

67
Gene trapped

63
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

71 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a gene trap allele exhibit decreased body weight, normal erythropoiesis, and cardioprotection after ischemia-reperfusion injury.

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All GO Annotations

11
GO References

8

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

709
Tissues

3
cDNA Data

13
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase p4htm

ZFIN p4htmb

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All Sequences

50
RefSeq

7
UniProt

4
CCDS

CCDS23533.1

Ensembl

ENSMUSG00000006675 (Evidence)
NCBI Gene

74443

			Length	Strain/Species	Flank
genomic	ENSMUSG00000006675	Ensembl Gene Model \| MGI Sequence Detail	18806	C57BL/6J	± kb
transcript	ENSMUST00000006853	Ensembl \| MGI Sequence Detail	1841	Not Applicable
polypeptide	ENSMUSP00000006853	Ensembl \| MGI Sequence Detail	503	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000012200 transmembrane prolyl 4-hydroxylase

(term hierarchy)
EC

1.14.11.29
InterPro Domains

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR005123 Oxoglutarate/iron-dependent dioxygenase

IPR045054 Prolyl 4-hydroxylase

IPR006620 Prolyl 4-hydroxylase, alpha subunit

IPR044862 Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain
GlyGen

Q8BG58 4 sites, 6 N-linked glycans (2 sites), 1 O-linked glycan (1 site)

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All nucleic 14

cDNA 13

Primer pair 1

Microarray probesets 4

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MGI:2143159, MGI:2143365

Summaries

All 35

Developmental Gene Expression 1

Gene Ontology 8

Phenotypes 9
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:313923 Byts N, et al., Transmembrane Prolyl 4-Hydroxylase is a Novel Regulator of Calcium Signaling in Astrocytes. eNeuro. 2021 Jan-Feb;8(1):ENEURO.0253-20.2020

TSS for P4htm:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr91544	Chr9:108474757-108474803 (-)	86 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 12/10/2024 MGI 6.24