Pank1 MGI Mouse Gene Detail - MGI:1922985

Symbol

Pank1
Name

pantothenate kinase 1
Synonyms

4632412I06Rik, 5430426F23Rik, Pank1, Pank1a, Pank1b

Feature Type

protein coding gene
IDs

MGI:1922985
NCBI Gene: 75735
Gene Overview

MyGene.info: PANK1
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr19:34806940-34879455 bp, - strand
From Ensembl annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 29.79 cM, cytoband G1-G3
Mapping Data

4 experiments

SNPs within 2kb

478 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1922985	protein coding gene	Chr19:34806935-34879593 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025066	protein coding gene	Chr19:33585877-33657573 (-)
A/J	MGP_AJ_G0025042	protein coding gene	Chr19:31953395-32022596 (-)
AKR/J	MGP_AKRJ_G0025010	protein coding gene	Chr19:33061948-33132180 (-)
BALB/cJ	MGP_BALBcJ_G0025040	protein coding gene	Chr19:32074757-32144012 (-)
C3H/HeJ	MGP_C3HHeJ_G0024799	protein coding gene	Chr19:33136249-33209915 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025481	protein coding gene	Chr19:34586387-34657724 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022899	protein coding gene	Chr19:31368718-31435776 (-)
CAST/EiJ	MGP_CASTEiJ_G0024266	protein coding gene	Chr19:32888140-32961131 (-)
CBA/J	MGP_CBAJ_G0024776	protein coding gene	Chr19:36176862-36267368 (-)
DBA/2J	MGP_DBA2J_G0024908	protein coding gene	Chr19:31854603-31923009 (-)
FVB/NJ	MGP_FVBNJ_G0024869	protein coding gene	Chr19:31682520-31749869 (-)
LP/J	MGP_LPJ_G0024994	protein coding gene	Chr19:33699063-33771381 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024900	protein coding gene	Chr19:35963021-36035251 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025539	protein coding gene	Chr19:33137641-33205701 (-)
PWK/PhJ	MGP_PWKPhJ_G0024018	protein coding gene	Chr19:31673056-31742995 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023818	protein coding gene	Chr19:32001106-32075475 (-)
WSB/EiJ	MGP_WSBEiJ_G0024333	protein coding gene	Chr19:33211627-33281418 (-)

Human Ortholog

PANK1, pantothenate kinase 1

Vertebrate Orthologs

8

Human Ortholog

PANK1, pantothenate kinase 1
Orthology source: HomoloGene, HGNC
Synonyms

PANK
Links

HGNC:8598

NCBI Gene ID: 53354

neXtProt AC: NX_Q8TE04

UniProt: Q8TE04
Chr Location

10q23.31; chr10:89579497-89645572 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 56979
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: PANK1
Protein SuperFamily

pantothenate kinase, acetyl-CoA regulated, stand-alone type
Gene Tree

Pank1

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Phenotype Summary

14 phenotypes from 1 allele in 2 genetic backgrounds
19 phenotypes from multigenic genotypes
3 images
8 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

24
Gene trapped

23
Targeted

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

18 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutant has increased body weight, polyphagia, decreased serum triglyceride and glucose levels after fasting.

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All GO Annotations

24
GO References

11

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

172
Tissues

104
cDNA Data

9
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pank1

ZFIN pank1a, pank1b

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Pank1 interacts with 251 markers (Mir10a, Mir10b, Mir16-1, ...) View All

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All Sequences

49
RefSeq

8
UniProt

3
CCDS

CCDS37966.1, CCDS50424.1

Ensembl

ENSMUSG00000033610 (Evidence)
NCBI Gene

75735

			Length	Strain/Species	Flank
genomic	ENSMUSG00000033610	Ensembl Gene Model \| MGI Sequence Detail	72516	C57BL/6J	± kb
transcript	ENSMUST00000036584	Ensembl \| MGI Sequence Detail	7414	Not Applicable
polypeptide	ENSMUSP00000043562	Ensembl \| MGI Sequence Detail	548	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000012255 pantothenate kinase 1

(term hierarchy)
EC

2.7.1.33
InterPro Domains

IPR004567 Type II pantothenate kinase

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All nucleic 12

Genomic 1

cDNA 11

Microarray probesets 10

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MGI:1925512

Summaries

All 42

Developmental Gene Expression 4

Gene Ontology 11

Phenotypes 8
Earliest

J:74934 Rock CO, et al., Pantothenate kinase regulation of the intracellular concentration of coenzyme A. J Biol Chem. 2000 Jan 14;275(2):1377-83
Latest

J:228074 Zano SP, et al., Correction of a genetic deficiency in pantothenate kinase 1 using phosphopantothenate replacement therapy. Mol Genet Metab. 2015 Dec;116(4):281-8

TSS for Pank1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr159025	Chr19:34879452-34879465 (-)	-4 bp
Tssr159024	Chr19:34879332-34879398 (-)	90 bp
Tssr159023	Chr19:34879288-34879313 (-)	154 bp
Tssr159022	Chr19:34879247-34879268 (-)	197 bp
Tssr159021	Chr19:34879221-34879230 (-)	229 bp
Tssr159020	Chr19:34879201-34879212 (-)	248 bp
Tssr159019	Chr19:34879178-34879194 (-)	269 bp
Tssr159018	Chr19:34877880-34877923 (-)	1,553 bp
Tssr159017	Chr19:34877843-34877861 (-)	1,603 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 & Copyright Notice Send questions and comments to User Support.	last database update 10/15/2019 MGI 6.14