SMPX cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	SMPX
Entrez Gene ID	23676
Full Name	small muscle protein, X-linked
Synonyms	DFN6,DFNX4
General protein information	Preferred Names small muscle protein, X-linked Names small muscular protein deafness, X-linked 6, sensorineural stretch-responsive skeletal muscle protein
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: X Map Location: Xp22.12
Summary	This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011].
Disorder MIM:	300066

mRNA and Protein(s)

mRNA	Protein	Name
NM_014332.3	NP_055147.1	small muscular protein
NM_014332.2	NP_055147.1	small muscular protein

Pathways from BioSystems

Homologies

Bos taurus (cattle)	SMPX	NP_001032715.1
Rattus norvegicus (Norway rat)	Smpx	NP_445847.1
Homo sapiens (human)	SMPX	NP_055147.1
Mus musculus (house mouse)	Smpx	NP_001239520.1
Xenopus tropicalis (tropical clawed frog)	smpx	NP_001072253.1
Gallus gallus (chicken)	SMPX	XP_003640562.1
Danio rerio (zebrafish)	smpx	NP_001002185.1
Pan troglodytes (chimpanzee)	SMPX	XP_001142063.2
	SMPX	XP_001086790.2
Canis lupus familiaris (dog)	SMPX	XP_854567.1

Gene Ontology
Bibliography

Related articles in PubMed

A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.
Niu Z, Yan D, Bressler S, Mei L, Feng Y, Liu X
International journal of pediatric otorhinolaryngology10447-50(2018 Jan)

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.
Niu Z, Feng Y, Mei L, Sun J, Wang X, Wang J, Hu Z, Dong Y, Chen H, He C, Liu Y, Cai X, Liu X, Jiang L
PloS one12(5)e0178384(2017)

X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.
Stanton SG, Griffin A, Stockley TL, Brown C, Young TL, Benteau T, Abdelfatah N
American journal of audiology23(2)190-200(2014 Jun)

Overexpression of SMPX in adult skeletal muscle does not change skeletal muscle fiber type or size.
Eftest?l E, Alver TN, Gundersen K, Bruusgaard JC
PloS one9(6)e99232(2014)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

A novel frameshift mutation in SMPX.
Title: A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

Audiological, medical, and family histories were collected and family members interviewed to compare hearing thresholds and case histories between cases with mutations in SMPX versus POU3F4.
Title: X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.

SMPX is localized predominantly in repetitive double stripes flanking the Z-disc, and not present in nuclei.
Title: Overexpression of SMPX in adult skeletal muscle does not change skeletal muscle fiber type or size.

Data indicate founder mutation in exon 3 (c.99delC) of SMPX that cosegregates in two Newfoundland families.
Title: A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.

Demonstrate phenotypic heterogeneity in large family with an X-linked pattern of inherited sensorineural hearing impairment with SMPX mutations.
Title: Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.

The following SMPX gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the SMPX cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu27416	NM_014332.3 Latest version!	Homo sapiens small muscle protein X-linked (SMPX), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
View Old Accession Versions >>
OHu27416	NM_014332.2	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
Hide Old Accession Versions >>

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

SMPX ( NM_014332.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_055147.1 Homo sapiens small muscle protein X-linked (SMPX), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu27416
Clone ID Related Accession (Same CDS sequence)	NM_014332.3 , NM_014332.2
Accession Version	NM_014332.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 267bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-10-01
Organism	Homo sapiens(human)
Product	small muscular protein
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK312134.1 and AF129505.1. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_014332.2. Transcript Variant: This variant (1) represents the predominant transcript and is protein-coding. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.207562.1, SRR5189655.18294.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145245, SAMEA2146982 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000379494.4/ ENSP00000368808.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGAATATGT CGAAACAGCC AGTTTCCAAT GTTAGAGCCA TCCAGGCAAA TATCAATATT 
CCAATGGGAG CCTTTCGGCC AGGAGCAGGT CAACCCCCCA GAAGAAAAGA ATGTACTCCT 
GAAGTGGAGG AGGGTGTTCC TCCCACCTCG GATGAGGAGA AGAAGCCAAT TCCAGGAGCG 
AAGAAACTTC CAGGACCTGC AGTCAATCTA TCGGAAATCC AGAATATTAA AAGTGAACTA 
AAATATGTCC CCAAAGCTGA ACAGTAG

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_055147.1
CDS	188..454
Translation	MNMSKQPVSNVRAIQANINIPMGAFRPGAGQPPRRKECTPEVEEGVPPTSDEEKKPIPGAKKLPGPAVNLSEIQNIKSELKYVPKAEQ

Target ORF information:

RefSeq Version	NM_014332.3
Organism	Homo sapiens(human)
Definition	Homo sapiens small muscle protein X-linked (SMPX), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_014332.3

ORF Insert Sequence:

ATGAATATGT CGAAACAGCC AGTTTCCAAT GTTAGAGCCA TCCAGGCAAA TATCAATATT 
CCAATGGGAG CCTTTCGGCC AGGAGCAGGT CAACCCCCCA GAAGAAAAGA ATGTACTCCT 
GAAGTGGAGG AGGGTGTTCC TCCCACCTCG GATGAGGAGA AGAAGCCAAT TCCAGGAGCG 
AAGAAACTTC CAGGACCTGC AGTCAATCTA TCGGAAATCC AGAATATTAA AAGTGAACTA 
AAATATGTCC CCAAAGCTGA ACAGTAG

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

SMPX ( NM_014332.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_055147.1 Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu27416
Clone ID Related Accession (Same CDS sequence)	NM_014332.3 , NM_014332.2
Accession Version	NM_014332.2	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 267bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2017-10-02
Organism	Homo sapiens(human)
Product	small muscular protein
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK312134.1, AF129505.1 and BM674432.1. This sequence is a reference standard in the RefSeqGene project. On Dec 14, 2011 this sequence version replaced NM_014332.1. Transcript Variant: This variant (1) represents the predominant transcript and is protein-coding. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR279862.5717.1, AF129505.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145245, SAMEA2146982 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGAATATGT CGAAACAGCC AGTTTCCAAT GTTAGAGCCA TCCAGGCAAA TATCAATATT 
CCAATGGGAG CCTTTCGGCC AGGAGCAGGT CAACCCCCCA GAAGAAAAGA ATGTACTCCT 
GAAGTGGAGG AGGGTGTTCC TCCCACCTCG GATGAGGAGA AGAAGCCAAT TCCAGGAGCG 
AAGAAACTTC CAGGACCTGC AGTCAATCTA TCGGAAATCC AGAATATTAA AAGTGAACTA 
AAATATGTCC CCAAAGCTGA ACAGTAG

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_055147.1
CDS	232..498
Translation	MNMSKQPVSNVRAIQANINIPMGAFRPGAGQPPRRKECTPEVEEGVPPTSDEEKKPIPGAKKLPGPAVNLSEIQNIKSELKYVPKAEQ

Target ORF information:

RefSeq Version	NM_014332.2
Organism	Homo sapiens(human)
Definition	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_014332.2

ORF Insert Sequence:

ATGAATATGT CGAAACAGCC AGTTTCCAAT GTTAGAGCCA TCCAGGCAAA TATCAATATT 
CCAATGGGAG CCTTTCGGCC AGGAGCAGGT CAACCCCCCA GAAGAAAAGA ATGTACTCCT 
GAAGTGGAGG AGGGTGTTCC TCCCACCTCG GATGAGGAGA AGAAGCCAAT TCCAGGAGCG 
AAGAAACTTC CAGGACCTGC AGTCAATCTA TCGGAAATCC AGAATATTAA AAGTGAACTA 
AAATATGTCC CCAAAGCTGA ACAGTAG

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.
International journal of pediatric otorhinolaryngology10447-50(2018 Jan)
Niu Z,Yan D,Bressler S,Mei L,Feng Y,Liu X

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.
PloS one12(5)e0178384(2017)
Niu Z,Feng Y,Mei L,Sun J,Wang X,Wang J,Hu Z,Dong Y,Chen H,He C,Liu Y,Cai X,Liu X,Jiang L

X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.
American journal of audiology23(2)190-200(2014 Jun)
Stanton SG,Griffin A,Stockley TL,Brown C,Young TL,Benteau T,Abdelfatah N

Overexpression of SMPX in adult skeletal muscle does not change skeletal muscle fiber type or size.
PloS one9(6)e99232(2014)
Eftest?l E,Alver TN,Gundersen K,Bruusgaard JC

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SMPX cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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