TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAFAZZINprovided by HGNC
Official Full Name: tafazzin, phospholipid-lysophospholipid transacylaseprovided by HGNC
Primary source: HGNC:HGNC:11577
See related: Ensembl:ENSG00000102125 MIM:300394; AllianceGenome:HGNC:11577
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EFE; TAZ; BTHS; EFE2; G4.5; Taz1; CMD3A; LVNCX
Summary: This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]
Annotation information: Note: TAZ (GeneID 6901) and WWTR1 (GeneID 25937) loci share the TAZ symbol/alias in common. TAZ is a widely used alternative name for the transcriptional coactivator with PDZ-binding motif (WWTR1) conflicting with the official symbol for tafazzin (TAZ). [19 Jun 2012]
Expression: Ubiquitous expression in bone marrow (RPKM 11.6), spleen (RPKM 10.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (154411539..154421726)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (152648045..152658233)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (153639875..153650065)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TAZ upregulates MIR-224 to inhibit oxidative stress response in multiple myeloma.
Title: TAZ upregulates MIR-224 to inhibit oxidative stress response in multiple myeloma.
Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome.
Title: Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome.
N-oleoylethanolamide treatment of lymphoblasts deficient in Tafazzin improves cell growth and mitochondrial morphology and dynamics.
Title: N-oleoylethanolamide treatment of lymphoblasts deficient in Tafazzin improves cell growth and mitochondrial morphology and dynamics.
miR125a5p reverses epithelialmesenchymal transition and restores drug sensitivity by negatively regulating TAFAZZIN signaling in breast cancer.
Title: miR‑125a‑5p reverses epithelial‑mesenchymal transition and restores drug sensitivity by negatively regulating TAFAZZIN signaling in breast cancer.
Diverse mitochondrial abnormalities in a new cellular model of TAFFAZZIN deficiency are remediated by cardiolipin-interacting small molecules.
Title: Diverse mitochondrial abnormalities in a new cellular model of TAFFAZZIN deficiency are remediated by cardiolipin-interacting small molecules.
Tafazzin Mutation Affecting Cardiolipin Leads to Increased Mitochondrial Superoxide Anions and Mitophagy Inhibition in Barth Syndrome.
Title: Tafazzin Mutation Affecting Cardiolipin Leads to Increased Mitochondrial Superoxide Anions and Mitophagy Inhibition in Barth Syndrome.
The Function of Tafazzin, a Mitochondrial Phospholipid-Lysophospholipid Acyltransferase.
Title: The Function of Tafazzin, a Mitochondrial Phospholipid-Lysophospholipid Acyltransferase.
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Title: Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Truncated TEAD-binding protein of TAZ inhibits glioma survival through the induction of apoptosis and repression of epithelial-mesenchymal transition.
Title: Truncated TEAD-binding protein of TAZ inhibits glioma survival through the induction of apoptosis and repression of epithelial-mesenchymal transition.
This study demonstrated that overexpression of TAZ caused by downregulation of miR-125b promoted resistance of glioma cells to TRAIL. MiR-125b/TAZ axis may represent a potential strategy to reverse the TRAIL in glioma.
Title: Downregulation of miR-125b promotes resistance of glioma cells to TRAIL through overexpression of Tafazzin which is a mitochondrial protein.

Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
3-Methylglutaconic aciduria type 2 MedGen: C0574083 OMIM: 302060 GeneReviews: Dilated Cardiomyopathy Overview, Barth Syndrome	Compare labs
Primary dilated cardiomyopathy MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD07224 (e-PCR)
- UniSTS:288281

ECD01292 (e-PCR)
- UniSTS:282398

REN89462 (e-PCR)
- UniSTS:414260

REN89463 (e-PCR)
- UniSTS:414261

REN89464 (e-PCR)
- UniSTS:414262

REN89465 (e-PCR)
- UniSTS:414263

REN89466 (e-PCR)
- UniSTS:414264

REN89467 (e-PCR)
- UniSTS:414265

REN89468 (e-PCR)
- UniSTS:414266

REN89469 (e-PCR)
- UniSTS:414267

REN89470 (e-PCR)
- UniSTS:414268

REN89471 (e-PCR)
- UniSTS:414269

REN89472 (e-PCR)
- UniSTS:414270

REN89473 (e-PCR)
- UniSTS:414271

REN89474 (e-PCR)
- UniSTS:414272

REN89475 (e-PCR)
- UniSTS:414273

REN89476 (e-PCR)
- UniSTS:414274

REN89477 (e-PCR)
- UniSTS:414275

REN89478 (e-PCR)
- UniSTS:414276

REN89479 (e-PCR)
- UniSTS:414277

REN89480 (e-PCR)
- UniSTS:414278

REN89481 (e-PCR)
- UniSTS:414279

REN89482 (e-PCR)
- UniSTS:414280

REN89483 (e-PCR)
- UniSTS:414281

REN89484 (e-PCR)
- UniSTS:414282

REN89485 (e-PCR)
- UniSTS:414283

REN89486 (e-PCR)
- UniSTS:414284

REN89487 (e-PCR)
- UniSTS:414285

REN89488 (e-PCR)
- UniSTS:414286

REN89489 (e-PCR)
- UniSTS:414287

REN89490 (e-PCR)
- UniSTS:414288

REN89491 (e-PCR)
- UniSTS:414289

REN89492 (e-PCR)
- UniSTS:414290

REN89493 (e-PCR)
- UniSTS:414291

REN89494 (e-PCR)
- UniSTS:414292

REN89495 (e-PCR)
- UniSTS:414293

REN89496 (e-PCR)
- UniSTS:414294

REN89497 (e-PCR)
- UniSTS:414295

REN89498 (e-PCR)
- UniSTS:414296

REN89499 (e-PCR)
- UniSTS:414297

REN89500 (e-PCR)
- UniSTS:414298

REN89501 (e-PCR)
- UniSTS:414299

REN89502 (e-PCR)
- UniSTS:414300

REN89503 (e-PCR)
- UniSTS:414301

REN89504 (e-PCR)
- UniSTS:414302

REN89505 (e-PCR)
- UniSTS:414303

REN89506 (e-PCR)
- UniSTS:414304

REN89507 (e-PCR)
- UniSTS:414305

REN89508 (e-PCR)
- UniSTS:414306

REN89509 (e-PCR)
- UniSTS:414307

SGC32232 (e-PCR)
- UniSTS:2433

G54832 (e-PCR)
- UniSTS:117915

DXS7010E (e-PCR)
- UniSTS:53404

GDB:548776 (e-PCR)
- UniSTS:157598

ECD07887 (e-PCR)
- UniSTS:288937

DXS7068 (e-PCR)
- UniSTS:99754

G65814 (e-PCR)
- UniSTS:166828

G65811 (e-PCR)
- UniSTS:166830

ECD06610 (e-PCR)
- UniSTS:287670

ECD04044 (e-PCR)
- UniSTS:285123

ECD17423 (e-PCR)
- UniSTS:298436

ECD05101 (e-PCR)
- UniSTS:286167

ECD20550 (e-PCR)
- UniSTS:301550

ECD03579 (e-PCR)
- UniSTS:284660

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	TAS Traceable Author Statement more info
enables 1-acylglycerophosphocholine O-acyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 1-acylglycerophosphocholine O-acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables 1-acylglycerophosphocholine O-acyltransferase activity	TAS Traceable Author Statement more info
enables O-acyltransferase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiolipin acyl-chain remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiolipin acyl-chain remodeling	TAS Traceable Author Statement more info	PubMed
involved_in cardiolipin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiolipin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cardiolipin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cristae formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner mitochondrial membrane organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial ATP synthesis coupled electron transport	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial respiratory chain complex I assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ATP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cardiolipin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatocyte division	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
is_active_in mitochondrial membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IC Inferred by Curator more info	PubMed
is_active_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: tafazzin

Names: protein G4.5

NP_000107.1

EC 2.3.1.-

NP_001290394.1

EC 2.3.1.-

NP_001397627.1

EC 2.3.1.-

NP_851828.1

EC 2.3.1.-

NP_851829.1

EC 2.3.1.-

NP_851830.1

EC 2.3.1.-

XP_006724899.1

EC 2.3.1.-

XP_006724900.1

EC 2.3.1.-

XP_006724902.1

EC 2.3.1.-

XP_011529491.1

EC 2.3.1.-

XP_011529493.1

EC 2.3.1.-

XP_016885250.1

EC 2.3.1.-

XP_016885252.1

EC 2.3.1.-

XP_016885253.1

EC 2.3.1.-

XP_047298363.1

EC 2.3.1.-

XP_047298364.1

EC 2.3.1.-

XP_054183621.1

EC 2.3.1.-

XP_054183622.1

EC 2.3.1.-

XP_054183623.1

EC 2.3.1.-

XP_054183624.1

EC 2.3.1.-

XP_054183625.1

EC 2.3.1.-

XP_054183626.1

EC 2.3.1.-

XP_054183627.1

EC 2.3.1.-

XP_054183628.1

EC 2.3.1.-

XP_054183629.1

EC 2.3.1.-

XP_054183630.1

EC 2.3.1.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009634.2 RefSeqGene

Range

5005..15192

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_131

mRNA and Protein(s)

NM_000116.5 → NP_000107.1 tafazzin isoform 1

See identical proteins and their annotated locations for NP_000107.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the major isoform (1).

Source sequence(s)

AL531401, BC005062, X92762

Consensus CDS

CCDS14748.1

UniProtKB/TrEMBL

A0A0S2Z4K0, A0A494C004

Related

ENSP00000469981.1, ENST00000601016.6

Conserved Domains (1) summary

cd07989
Location:34 → 271

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
NM_001303465.2 → NP_001290394.1 tafazzin isoform 5

See identical proteins and their annotated locations for NP_001290394.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate in-frame splice junction in the 5' coding region and lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting isoform (5) contains an alternate segment near the N-terminus and lacks an alternate segment near the C-terminus compared to isoform 1.

Source sequence(s)

AL531401, BC005062, DB192394, DQ884408, X92762

Consensus CDS

CCDS94701.1

UniProtKB/TrEMBL

A0A087X0T0, A0A494C004, A6XNE1

Related

ENSP00000483636.2, ENST00000616020.5

Conserved Domains (1) summary

cd07989
Location:56 → 275

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
NM_001410698.1 → NP_001397627.1 tafazzin isoform 6

Status: REVIEWED

Source sequence(s)

AC244090, AC245140

Consensus CDS

CCDS94702.1

UniProtKB/TrEMBL

A0A499FJ53

Related

ENSP00000419854.3, ENST00000475699.6
NM_181311.4 → NP_851828.1 tafazzin isoform 2

See identical proteins and their annotated locations for NP_851828.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) compared to isoform 1.

Source sequence(s)

AL531401, AY231461, BC005062, DB192394, X92762

Consensus CDS

CCDS14749.1

UniProtKB/Swiss-Prot

A3KQT2, D3DWX2, Q16635, Q5HY43, Q5HY44, Q5HY45, Q5HY48, Q86XQ6, Q86XQ7, Q86XQ8, Q86XQ9, Q86XR0

UniProtKB/TrEMBL

A0A0S2Z4E6, A0A494C004

Related

ENSP00000481037.1, ENST00000612460.5

Conserved Domains (1) summary

cd07989
Location:34 → 241

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
NM_181312.4 → NP_851829.1 tafazzin isoform 3

See identical proteins and their annotated locations for NP_851829.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (3) compared to isoform 1.

Source sequence(s)

AL531401, AY231462, BC005062, DB192394, X92762

Consensus CDS

CCDS14750.1

UniProtKB/TrEMBL

A0A0S2Z4K9, A0A494C004

Related

ENSP00000482070.2, ENST00000612012.5

Conserved Domains (1) summary

cd07989
Location:34 → 257

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
NM_181313.4 → NP_851830.1 tafazzin isoform 4

See identical proteins and their annotated locations for NP_851830.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two in-frame coding exons compared to variant 1, resulting in a shorter isoform (4) compared to isoform 1.

Source sequence(s)

AL531401, AY231463, BC005062, DB192394, X92762

Consensus CDS

CCDS35450.1

UniProtKB/TrEMBL

A0A0S2Z4F4, F6Y2X3

Related

ENSP00000478154.1, ENST00000613002.4

Conserved Domains (1) summary

cd07989
Location:34 → 227

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

RNA

NR_024048.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) uses an alternate donor splice site at one of the coding exons, and is also lacking an internal coding exon compared to variant 1. This results in premature translation termination rendering this transcript susceptible to NMD. This variant has transcript support, but is not expected to encode a viable protein product.

Source sequence(s)

AL531401, BC005062

Related

ENST00000615986.4

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

154411539..154421726

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006724836.2 → XP_006724899.1 tafazzin isoform X1

UniProtKB/TrEMBL

A0A494C004

Related

ENSP00000498858.1, ENST00000652390.1

Conserved Domains (1) summary

cd07989
Location:56 → 289

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
XM_006724837.2 → XP_006724900.1 tafazzin isoform X2

UniProtKB/TrEMBL

F6Y2X3

Related

ENSP00000358791.4, ENST00000369776.8

Conserved Domains (2) summary

COG0204
Location:60 → 294

PlsC; 1-acyl-sn-glycerol-3-phosphate acyltransferase [Lipid transport and metabolism]

pfam01553
Location:59 → 169

Acyltransferase; Acyltransferase
XM_006724839.2 → XP_006724902.1 tafazzin isoform X4

UniProtKB/TrEMBL

F6Y2X3

Conserved Domains (1) summary

cd07989
Location:56 → 245

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
XM_011531189.2 → XP_011529491.1 tafazzin isoform X5

Conserved Domains (1) summary

cl17185
Location:59 → 142

LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis
XM_017029761.2 → XP_016885250.1 tafazzin isoform X3

UniProtKB/TrEMBL

F6Y2X3
XM_017029763.2 → XP_016885252.1 tafazzin isoform X7
XM_047442407.1 → XP_047298363.1 tafazzin isoform X6

UniProtKB/TrEMBL

A0A494C0C5

Related

ENSP00000498464.1, ENST00000652358.1
XM_047442408.1 → XP_047298364.1 tafazzin isoform X10
XM_011531191.3 → XP_011529493.1 tafazzin isoform X8

UniProtKB/TrEMBL

A0A494C0V5

Related

ENSP00000498734.1, ENST00000652354.1

Conserved Domains (1) summary

cd07989
Location:58 → 179

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
XM_017029764.2 → XP_016885253.1 tafazzin isoform X9

UniProtKB/TrEMBL

A0A494C0V5

Conserved Domains (1) summary

cd07989
Location:57 → 178

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

152648045..152658233

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054327646.1 → XP_054183621.1 tafazzin isoform X1
XM_054327647.1 → XP_054183622.1 tafazzin isoform X2
XM_054327649.1 → XP_054183624.1 tafazzin isoform X4
XM_054327650.1 → XP_054183625.1 tafazzin isoform X5
XM_054327648.1 → XP_054183623.1 tafazzin isoform X3
XM_054327652.1 → XP_054183627.1 tafazzin isoform X7
XM_054327651.1 → XP_054183626.1 tafazzin isoform X6

UniProtKB/TrEMBL

A0A494C0C5
XM_054327655.1 → XP_054183630.1 tafazzin isoform X10
XM_054327653.1 → XP_054183628.1 tafazzin isoform X8
XM_054327654.1 → XP_054183629.1 tafazzin isoform X9

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_181314.1: Suppressed sequence

Description

NM_181314.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.