Pmel (premelanosome protein) - Rat Genome Database

Name: Pmel
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: Pmel (premelanosome protein) Ictidomys tridecemlineatus

Analyze

Symbol:

Pmel

Name:

premelanosome protein

RGD ID:

12671302

Description:

ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN melanin biosynthetic process (ortholog); ASSOCIATED WITH coat/hair pigmentation trait (ortholog); genetic disease (ortholog); melanoma (ortholog); FOUND IN cis-Golgi network membrane (inferred); endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

melanocyte protein PMEL

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Homo sapiens (human):	PMEL (premelanosome protein)	NCBI	Ortholog
Mus musculus (house mouse):	Pmel (premelanosome protein)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Rattus norvegicus (Norway rat):	Pmel (premelanosome protein)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chinchilla lanigera (long-tailed chinchilla):	Pmel (premelanosome protein)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Pan paniscus (bonobo/pygmy chimpanzee):	PMEL (premelanosome protein)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Canis lupus familiaris (dog):	PMEL (premelanosome protein)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Sus scrofa (pig):	PMEL (premelanosome protein)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chlorocebus sabaeus (green monkey):	PMEL (premelanosome protein)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Heterocephalus glaber (naked mole-rat):	Pmel (premelanosome protein)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	58,491,116 - 58,502,171 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936646	365,809 - 379,130 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936646	368,064 - 379,085 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Experimental Data Annotations Click to see Annotation Detail View

Vertebrate Trait

Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
coat/hair pigmentation trait		ISO	PMEL (Canis lupus familiaris)	9068941	Coat colour and merle	OMIA	PMID:12580795 more ...

Disease Annotations Click to see Annotation Detail View

genetic disease (ISO)

melanoma (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

melanin biosynthetic process (IEA,ISO)

melanosome organization (IEA)

positive regulation of melanin biosynthetic process (IEA)

Cellular Component

cis-Golgi network membrane (IEA)

endoplasmic reticulum (IEA)

endoplasmic reticulum membrane (IEA)

extracellular exosome (IEA)

Golgi apparatus (IEA)

melanosome (IEA)

melanosome membrane (IEA)

membrane (IEA)

multivesicular body membrane (IEA)

multivesicular body, internal vesicle (IEA)

Molecular Function

identical protein binding (IEA)

protein binding (ISO)

Experimental Data Annotations Click to see Annotation Detail View

Vertebrate Trait

coat/hair pigmentation trait (ISO)

References

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

Pmel
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	58,491,116 - 58,502,171 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936646	365,809 - 379,130 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936646	368,064 - 379,085 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PMEL
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	55,954,105 - 55,966,709 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	55,954,105 - 55,973,317 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	56,347,889 - 56,360,493 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	54,634,156 - 54,646,093 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	54,634,156 - 54,646,093	NCBI
Celera	12	56,000,543 - 56,012,534 (-)	NCBI		Celera
Cytogenetic Map	12	q13.2	NCBI
HuRef	12	53,386,917 - 53,399,406 (-)	NCBI		HuRef
CHM1_1	12	56,315,023 - 56,327,629 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	55,921,167 - 55,933,772 (-)	NCBI		T2T-CHM13v2.0

Pmel
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	128,531,757 - 128,555,993 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	128,540,064 - 128,556,107 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	128,695,888 - 128,720,238 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	128,704,195 - 128,720,238 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	128,143,314 - 128,157,294 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	128,109,207 - 128,123,073 (+)	NCBI		MGSCv36	mm8
Celera	10	131,098,390 - 131,112,396 (+)	NCBI		Celera
Cytogenetic Map	10	D3	NCBI
cM Map	10	77.13	NCBI

Pmel
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	1,721,948 - 1,733,248 (+)	NCBI		GRCr8
mRatBN7.2	7	1,138,202 - 1,148,735 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	1,138,586 - 1,148,746 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	7	3,133,347 - 3,143,827 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	3,133,506 - 3,143,911 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	3,105,316 - 3,116,614 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	2,007,882 - 2,018,998 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	2,008,881 - 2,018,859 (+)	NCBI
Celera	7	1,008,541 - 1,019,007 (+)	NCBI		Celera
Cytogenetic Map	7	q11	NCBI

Pmel
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955458	3,544,961 - 3,554,619 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955458	3,544,855 - 3,555,453 (-)	NCBI	ChiLan1.0	ChiLan1.0

PMEL
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	10	38,363,001 - 38,374,882 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	38,359,773 - 38,371,654 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	32,946,951 - 32,958,205 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	33,196,656 - 33,207,610 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	33,196,040 - 33,207,610 (+)	Ensembl	panpan1.1		panPan2

PMEL
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	292,595 - 327,618 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	292,597 - 300,098 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	354,530 - 362,031 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	299,404 - 334,246 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	299,405 - 306,904 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	277,211 - 284,717 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	519,995 - 527,495 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	644,259 - 651,766 (-)	NCBI		UU_Cfam_GSD_1.0

PMEL
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	21,355,619 - 21,364,987 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	21,355,611 - 21,365,609 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

PMEL
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	11	51,892,131 - 51,905,073 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	51,887,730 - 51,904,324 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	194,082,197 - 194,095,017 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pmel
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624802	12,083,090 - 12,092,767 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624802	12,073,932 - 12,092,885 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005335604	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010000004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSSTOT00000000293 ⟹ ENSSTOP00000000262

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936646	365,809 - 379,130 (-)	Ensembl

RefSeq Acc Id:

XM_005335604 ⟹ XP_005335661

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404945	58,491,116 - 58,502,171 (+)	NCBI
SpeTri2.0	NW_004936646	368,064 - 379,085 (-)	NCBI

Sequence:

show sequence

CCCCAGCGCCTTTGGTTGCTGAAGGGAAGAACAGGATGGATGTGGTGCTGAGAAGGTGCTTTCT
CCATTTGTGTGTGCTAAGTGCTCTGTTGGCTGTGGGGGCCACAGAAGGACCCAGAAACCAGGAC
TGGCTTGGAGTCTTGAGGCAGCTCAGAACAAATGCCTGGAACAGACAGCTGTATCCAGAGTGGA
CAGAAGTTCAGAGGCCTGACTGCTGGAAAGGTGGCCAGGTGTCCCTGGAGCTCAGTAATGATGG
GCCTACACTGATTGGTGCAAATACCTCCTTCTCTATTGCCCTGCACTTCCCTGAAAGCCAAAAG
GTACTGCCAGATGGGCAGGTTATCTGGGCCAACAACACCATCATCAATGGGAGTCAGGTGTGGG
GAGGAGAACCAGTGTATCCCCAGGAACCTGACAATGCTTGCATCTTCCCTGATGGTGGACCCTG
CCCATCTGGCCCTTGGTCTCAAAGAAGAAGATTTGTTTATGTCTGGAAGACCTGGGGCCAATAC
TGGCAAGTCTTGGGGGGTCCAGTGTCCAGGCTGAGTATTGGGACAGAACAGGCAATGCTGGGCA
CACACACCATGGAAGTGACTGTCTACCATCACCGTGGATCCCAGAGCTACGTGCCCCTTGCTCG
CTCCAGCTCAGCCTTCACCATTACTGACCAGGTACCTTTCTCTGTGAGCGTGTCGCAACTACAA
GCCTTGGATGGAGGGAACAAACACTTCCTGAGGAAGCAACCTCTGACCTTTTCTCTTCAGCTCC
ATGACCCCAGTGGCTATTTGAAGGGGGCTGACCTCTCTTATACATGGAACTTTGGAGATGGTAC
TGGGACTCTGATCTCTCGGGCACTTGTGGTCACTCATACATACCTGGAGTCTGGCCCCGTCACT
GCTCAGGTGGTGCTGCAGGCTGCCATTCCTCTTACCTCCTGTGGCTCTTCCCCACTTCCAGCCA
CAACAGATGGGAATATGTCAACTGCAGAGGTTCCTAGCACCACAGTTGGGCAAGTGCCTACTGC
AGAAGTTATAGGTACTACACCCAATCAGGTACCAACTACAGAGCCATCTGGAACCACAGCTGTG
CATGTGCAAACCACAGAAGTCATAAATATCACATCTGTACAAATGCCAACTGCAGAGGGAACAA
GTACTACACTGCAGCAGCTACCAACCTCAGAGGTCATAGATACCACATTTGCAGAGGTGTCAAC
TACAGAGGTTATAGATACTACACCTGTAAAGATGCCAACTGCAGAGCCCTCTACAGAGGTGACA
ACTATAGAGTTGGTGGAGACCACAGCTGAAAAGATACCGACTCCTGAGCCTGAGGGTCCAGATG
CTAGCCCATTCATGTCTACAGAAGGTATTACAGGGTCCCTGAGCCCTCCGCTGGATGGCACAGA
TACCTTAATGCTGGTGAAGAGACAAGTCCCCTTGGATTGTGTTCTATATCGATATGGTTCCTAT
TCTCTCACTCTGGATATTGTCCAGGGCATTGAGAATGCTGAGATCCTGCAGGCCGTGCCATCCA
GTGAAGGGGATGCATTTGAGTTGACTGTGTCCTGTCAAGGCGGGCTGCCCAAGGAAGCTTGTTT
GGATATTTCATCACCAGGGTGCCAGCCTCCAGCCCAACGTCTGTGCCAGCCTGTGCCACCAAGT
CCAGCCTGCCAGGTGGTTCTGCACCAGGTACTAAAGGGCGGCTCAGGGACCTACTGCCTCAATG
TGTCCTTGGCTGATGCCAACAGCCTGGCAGTGGCCAGCACCCAGCTTATCATGCCTGGTCAAGA
AGCAGGCCTTGGGCAGGTTCCCCTGCTTGTGGGTATCTTGCTAGTGTTGATGGCTGTGGTCCTT
GCATCTCTGATATATAGGCGCAGATTTATGAAGCAGGGCTCAGCTCTCTCCATTTCCCAGCTGC
CACACAGTAGCACTCACTGGCTACGTCTGCCCAGGGTCCTCCGTGCTTGCCCCACTGGTGAGAA
CAGTCCACTTCTCAGTGGGCAGCAGGTCTGAGTACTCTCATATGATGATATGATTCTCCTGGGG
TTGACAGGAATGCCTGTCTTTTCTGTAGTCTTTCCTTGGAGACCACCATTACCTGAAATAAATA
CTTGGAACTTGG

hide sequence

Protein Sequences


Protein RefSeqs	XP_005335661	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000000262.3
GenBank Protein	KAG3291663	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

XP_005335661 ⟸ XM_005335604

- UniProtKB:

I3LWB8 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MDVVLRRCFLHLCVLSALLAVGATEGPRNQDWLGVLRQLRTNAWNRQLYPEWTEVQRPDCWKGG
QVSLELSNDGPTLIGANTSFSIALHFPESQKVLPDGQVIWANNTIINGSQVWGGEPVYPQEPDN
ACIFPDGGPCPSGPWSQRRRFVYVWKTWGQYWQVLGGPVSRLSIGTEQAMLGTHTMEVTVYHHR
GSQSYVPLARSSSAFTITDQVPFSVSVSQLQALDGGNKHFLRKQPLTFSLQLHDPSGYLKGADL
SYTWNFGDGTGTLISRALVVTHTYLESGPVTAQVVLQAAIPLTSCGSSPLPATTDGNMSTAEVP
STTVGQVPTAEVIGTTPNQVPTTEPSGTTAVHVQTTEVINITSVQMPTAEGTSTTLQQLPTSEV
IDTTFAEVSTTEVIDTTPVKMPTAEPSTEVTTIELVETTAEKIPTPEPEGPDASPFMSTEGITG
SLSPPLDGTDTLMLVKRQVPLDCVLYRYGSYSLTLDIVQGIENAEILQAVPSSEGDAFELTVSC
QGGLPKEACLDISSPGCQPPAQRLCQPVPPSPACQVVLHQVLKGGSGTYCLNVSLADANSLAVA
STQLIMPGQEAGLGQVPLLVGILLVLMAVVLASLIYRRRFMKQGSALSISQLPHSSTHWLRLPR
VLRACPTGENSPLLSGQQV

hide sequence

RefSeq Acc Id:

ENSSTOP00000000262 ⟸ ENSSTOT00000000293

Protein Domains

PKD

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000000295	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000000293.3	UniProtKB/TrEMBL
Gene3D-CATH	2.60.40.10	UniProtKB/TrEMBL
InterPro	Ig-like_fold	UniProtKB/TrEMBL
	PKAT	UniProtKB/TrEMBL
	PKAT_KLD	UniProtKB/TrEMBL
	PKD/Chitinase_dom	UniProtKB/TrEMBL
	PKD_dom	UniProtKB/TrEMBL
	PKD_dom_sf	UniProtKB/TrEMBL
NCBI Gene	Pmel	ENTREZGENE
PANTHER	MELANOCYTE PROTEIN PMEL	UniProtKB/TrEMBL
	PTHR11861	UniProtKB/TrEMBL
Pfam	PKAT_KLD	UniProtKB/TrEMBL
	PKD	UniProtKB/TrEMBL
PROSITE	PKD	UniProtKB/TrEMBL
SMART	PKD	UniProtKB/TrEMBL
Superfamily-SCOP	SSF49299	UniProtKB/TrEMBL
UniProt	I3LWB8	ENTREZGENE, UniProtKB/TrEMBL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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