IMGT Repertoire (RPI)

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IMGT RPI entry from gene to protein for Homo sapiens MPZ

Citing IMGT RPI entry for MPZ

Duprat, E. et al. IMGT standardization for alleles and mutations of the V-LIKE-DOMAINs and C-LIKE-DOMAINs of the immunoglobulin superfamily, Recent Research Developments in Human Genetics, 2, 111-136 (2004)

with permission from Research Signpost

IMGT gene name and definition

IMGT gene name: Homo sapiens MPZ
IMGT gene definition: Homo sapiens Myelin protein zero (charcot-Marie-tooth neuropathy 1B)

Chromosomal localization

Chromosome: 1
Chromosomal localization: 1q22

Gene exon/intron organization

Legend:

Length of the exons and introns are in base pairs.
Colors are according to IMGT Color menu for regions and domains

Number of alleles: 4

IMGT reference alleles

Allele names	Gene functionality	IMGT reference sequences
Allele names	Gene functionality	Exons	Accession numbers	Molecule type
MPZ*01	F	EX1-6	D14720 [1]	gDNA
MPZ*02	F	EX1-6	AL592295	gDNA (1)
MPZ*03	F	EX1-6	L24893 [2]	gDNA (2) splicing B
MPZ*04	F	EX1-6	Z31718 [3]	gDNA (3) splicing B

IMGT reference sequences (in FASTA format) for the allele(s): MPZ*01 to MPZ*04

Nucleotide sequence in FASTA format with gaps according to the IMGT unique numbering
Amino acid sequence in FASTA format with gaps according to the IMGT unique numbering
Nucleotide sequence in FASTA format without gaps
Amino acid sequence in FASTA format without gaps

Other sequences from the literature

Allele names	Gene functionality	IMGT reference sequences			Partiality
Allele names	Gene functionality	Exons	Accession numbers	Molecule type	Partiality
MPZ*01	F	EX1-3	S66705	cDNA (5) splicing B	Partial
MPZ*02	F	EX1-6	BC006491	cDNA
		EX1-6	BT006165	cDNA
		EX1-5	U10018	gDNA splicing B (4)	Partial
		EX1-6	NM_000530	cDNA
MPZ*03	F	EX1-6	D10537	cDNA

Corresponding protein database accession numbers

Allele Name	Accession numbers		Number of amino acids	Protein isoform
Allele Name	Nucleotide databases	Protein databases	Number of amino acids	Protein isoform
MPZ*01	D14720		258 aa	1
MPZ*02	AL592295	Q5VTH4	258 aa	1
MPZ*02	NM_000530	NP_000521	258 aa	1
MPZ*03	L24893	P25189	248 aa	2
MPZ*04	Z31718	Q14902	251 aa	2

IMGT notes:

(1) V-LIKE-DOMAIN [D] is encoded by EX2 and EX3
(2) In EX3 [D] 92a>g (257a>g) in V-LIKE-DOMAIN, numbering according to IMGT unique numbering for V-DOMAIN and V-LIKE-DOMAIN.
(3) Utilizes an alternate start codon 30 nt downstream. In EX2 [D] 149a>g (138.3a>g) and in EX3 [D] 84c>t (252t>c) and 132t>c (297c>t) in V-LIKE-DOMAIN, numbering according to IMGT unique numbering for V-LIKE-DOMAIN.
(4) Utilizes an alternate start codon 30 nt downstream. In EX6 insertion of 2 nt at position 15 (15^16>ins^gc) which most probably arise by sequence error ot typing error. This insertion lead to the frame shift.
(5) Partial. No EX1.
(6) Splicing B. In EX2[D] at position 108 deletion of 3 nt (109-111ctc>del#); 37I>del#. This most probably result from sequencing error or typing error.

IMGT references:

[1] Hayasaka K. et al., Biochem. Biophys.res. Commun.180, 515-518 (1991). PMID:1719967
[2] Pham Dinh D. et al., Hum. Mol. Genet.2, 2051-2054 (1993). PMID:7509228
[3] Rautenstrauss B. et al., Hum. Mol. Genet.3, 1701-1702 (1994). PMID:7530550

Genomic sequence

Coding region sequence

The coding region (CODING-REGION) sequence starts from INIT-CODON (or its encoded amino acid) to STOP-CODON (not included).
The nucleotide sequence is extracted from cDNA (c) sequences and/or is built by artificial exon joining from genomic DNA (g) sequences. The amino acid sequence is the translation of the nucleotide sequence.

MPZ*01: D14720(g)

Nucleotide sequence

1        atgctccggg cccctgcccc tgccccagct atggctcctg gggctccctc atccagcccc

61       agccctatcc tggctgtgct gctcttctct tctttggtgc tgtccccggc ccaggccatc

121      gtggtttaca ccgacaggga ggtccatggt gctgtgggct cccgggtgac cctgcactgc

181      tccttctggt ccagtgagtg ggtctcagat gacatctcct tcacctggcg ctaccagccc

241      gaaggaggca gagatgccat ttcgatcttc cactatgcca agggacaacc ctacattgac

301      gaggtgggga ccttcaaaga gcgcatccag tgggtagggg accctcgctg gaaggatggc

361      tccattgtca tacacaacct agactacagt gacaatggca cgttcacttg tgacgtcaaa

421      aaccctccag acatagtggg caagacctct caggtcacgc tgtatgtctt tgaaaaagtg

481      ccaactaggt acggggtcgt tctgggagct gtgatcgggg gtgtcctcgg ggtggtgctg

541      ttgctgctgc tgcttttcta cgtggttcgg tactgctggc tacgcaggca ggcggccctg

601      cagaggaggc tcagtgctat ggagaagggg aaattgcaca agccaggaaa ggacgcgtcg

661      aagcgcgggc ggcagacgcc agtgctgtat gcaatgctgg accacagcag aagcaccaaa

721      gctgtcagtg agaagaaggc caaggggctg ggggagtctc gcaaggataa gaaatag

Nucleotide sequence in FASTA format (without gaps) MPZ*01

Amino acid sequence

1        MLRAPAPAPA MAPGAPSSSP SPILAVLLFS SLVLSPAQAI VVYTDREVHG AVGSRVTLHC

61       SFWSSEWVSD DISFTWRYQP EGGRDAISIF HYAKGQPYID EVGTFKERIQ WVGDPRWKDG

121      SIVIHNLDYS DNGTFTCDVK NPPDIVGKTS QVTLYVFEKV PTRYGVVLGA VIGGVLGVVL

181      LLLLLFYVVR YCWLRRQAAL QRRLSAMEKG KLHKPGKDAS KRGRQTPVLY AMLDHSRSTK

241      AVSEKKAKGL GESRKDKK*

Amino acid sequence in FASTA format (without gap) MPZ*01

Legend:

Colors are according to IMGT Color menu for regions and domains
Nucleotide and amino acid letters (in bold) in purple, green or blue are according to IMGT Color menu for splicing types.

IMGT links

IMGT Repertoire

Chromosomal localization:
Alignment of alleles:
Protein displays: V-LIKE-DOMAINs
IMGT Collier de perles: V-LIKE-DOMAIN on one layer, V-LIKE-DOMAIN on two layers

IMGT databases

IMGT/3Dstructure-DB: 1neu

External links

Genome databases

Entrez Gene: 4359
GENATLAS: MPZ
GeneCards: GC01M158087
GDB: MPZ
OMIM: 159440

Sequence databases

EMBL: D10537, D14720, L24893, L24894, S66705, BT006765, BC006491, U10018
GenBank: D10537, D14720, L24893, L24894, S66705, BT006765, BC006491, U10018
DDBJ: D10537, D14720, L24893, L24894, S66705, BT006765, BC006491, U10018
Swiss-Prot: P25189, Q5VTH4
TrEMBL:
NCBI: NM_000530, NP_000521

Structure databases

PDB: 1NEU