Pmel MGI Mouse Gene Detail - MGI:98301

Symbol

Pmel
Name

premelanosome protein
Synonyms

D10H12S53E, D12S53Eh, gp100, gp87, Pmel17, Si

Feature Type

protein coding gene
IDs

MGI:98301
NCBI Gene: 20431
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr10:128540064-128556107 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 77.13 cM
Mapping Data

10 experiments

SNPs within 2kb

420 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_98301	protein coding gene	Chr10:128531757-128556107 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017879	protein coding gene	Chr10:132475339-132492884 (+)
A/J	MGP_AJ_G0017854	protein coding gene	Chr10:127156098-127172615 (+)
AKR/J	MGP_AKRJ_G0017817	protein coding gene	Chr10:130872067-130887786 (+)
BALB/cJ	MGP_BALBcJ_G0017818	protein coding gene	Chr10:127522910-127537280 (+)
C3H/HeJ	MGP_C3HHeJ_G0017641	protein coding gene	Chr10:131043256-131057949 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018273	protein coding gene	Chr10:136948645-136966849 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015951	protein coding gene	Chr10:121071168-121085352 (+)
CAST/EiJ	MGP_CASTEiJ_G0017202	protein coding gene	Chr10:131763638-131780311 (+)
CBA/J	MGP_CBAJ_G0017611	protein coding gene	Chr10:142540694-142559932 (+)
DBA/2J	MGP_DBA2J_G0017717	protein coding gene	Chr10:126217917-126232041 (+)
FVB/NJ	MGP_FVBNJ_G0017712	protein coding gene	Chr10:125140988-125155634 (+)
LP/J	MGP_LPJ_G0017791	protein coding gene	Chr10:133065569-133082596 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017740	protein coding gene	Chr10:145103345-145122157 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018313	protein coding gene	Chr10:130978206-130993077 (+)
PWK/PhJ	MGP_PWKPhJ_G0016987	protein coding gene	Chr10:126471942-126489005 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016776	protein coding gene	Chr10:130090002-130107500 (+)
WSB/EiJ	MGP_WSBEiJ_G0017261	protein coding gene	Chr10:131200146-131215794 (+)

Human Ortholog

PMEL, premelanosome protein

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PMEL, premelanosome protein
Synonyms

D12S53E, gp100, HMB-45, HMB45, ME20, ME20-M, ME20M, P1, P100, PMEL17, SI, SIL, SILV
Links

HGNC:10880

NCBI Gene ID: 6490

neXtProt AC: NX_P40967

UniProt: P40967
Chr Location

12q13.2; chr12:55954105-55973317 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: PMEL
Gene Tree

Pmel

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Phenotype Summary

13 phenotypes from 3 alleles in 4 genetic backgrounds
2 images
31 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
Endonuclease-mediated

2
Gene trapped

27
Spontaneous

1
Targeted

7
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

38 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

This mutation affects the viability of melanoblasts, resulting in random occurrence of white, partially white or gray hairs, and fully pigmented hairs that together display as varying intensities of silvering.

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All GO Annotations

25
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

1027
Tissues

115
cDNA Data

9
Literature Summary

20

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pmel

ZFIN pmela, pmelb

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All Sequences

75
RefSeq

8
UniProt

4
CCDS

CCDS36091.1

Ensembl

ENSMUSG00000025359 (Evidence)
NCBI Gene

20431

			Length	Strain/Species	Flank
genomic	ENSMUSG00000025359	Ensembl Gene Model \| MGI Sequence Detail	16044	C57BL/6J	± kb
transcript	ENSMUST00000054125	Ensembl \| MGI Sequence Detail	2130	Not Applicable
polypeptide	ENSMUSP00000051869	Ensembl \| MGI Sequence Detail	626	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000014874 melanocyte protein Pmel 17

(term hierarchy)
InterPro Domains

IPR013783 Immunoglobulin-like fold

IPR046846 PKAT, KLD domain

IPR045219 PKD- and KLD-Associated Transmembrane

IPR022409 PKD/Chitinase domain

IPR000601 PKD domain

IPR035986 PKD domain superfamily
GlyGen

Q60696 4 sites, 1 N-linked glycan (1 site)

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All nucleic 16

Genomic 1

cDNA 10

Primer pair 1

Other 4

Microarray probesets 4

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MGD-MRK-14408, MGD-MRK-2463, MGD-MRK-3358, MGI:88707

Summaries

All 95

Developmental Gene Expression 20

Gene Ontology 8

Phenotypes 31
Earliest

J:13051 Dunn LC, et al., The silver mouse, a recessive color variation. J Hered. 1930;21(12):495-498
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Pmel:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr3400	Chr10:128540049-128540055 (+)	-12 bp
Tssr96436	Chr10:128541043-128541078 (+)	997 bp
Tssr96437	Chr10:128542120-128542133 (+)	2,063 bp
Tssr96438	Chr10:128556003-128556014 (+)	15,945 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