ANK1 ankyrin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANK1provided by HGNC
Official Full Name: ankyrin 1provided by HGNC
Primary source: HGNC:HGNC:492
See related: Ensembl:ENSG00000029534 MIM:612641; AllianceGenome:HGNC:492
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: ANK; SPH1; SPH2; ankyrin-1
Summary: Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]
Expression: Biased expression in bone marrow (RPKM 23.4) and heart (RPKM 5.1) See more
Orthologs: mouse all
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Genomic context

Location:: 8p11.21

Exon count:: 46

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (41653225..41896741, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (41926848..42170259, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (41510744..41754259, complement)

Chromosome 8 - NC_000008.11 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
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?

Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans.
Title: Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans.
Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.
Title: Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.
De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing.
Title: De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing.
A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family.
Title: A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family.
Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients.
Title: Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients.
The SNP rs516946 Interacted in the Association of MetS with Dietary Iron among Chinese Males but Not Females.
Title: The SNP rs516946 Interacted in the Association of MetS with Dietary Iron among Chinese Males but Not Females.
Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.
Title: Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.
Human ankyrins and their contribution to disease biology: An update.
Title: Human ankyrins and their contribution to disease biology: An update.
A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.
Title: A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.
Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report.
Title: Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report.

Submit: New GeneRIF Correction See all GeneRIFs (59)

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
Hereditary spherocytosis type 1 MedGen: C2674218 OMIM: 182900 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of lung function decline in adults with and without asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	Ankyrin binds to the N-terminal region (residues 132-241) of the CA domain of HIV-1 Gag. Ankyrin decreases expression of Gag in HIV-1-infected SupT1 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH121660 (e-PCR)
- UniSTS:134400

RH69660 (e-PCR)
- UniSTS:24338

SHGC-144984 (e-PCR)
- UniSTS:174354

D8S2039 (e-PCR)
- UniSTS:21269

STS-W88737 (e-PCR)
- UniSTS:47155

NoName (e-PCR)
- UniSTS:483649

D8S2329 (e-PCR)
- UniSTS:31321

D8S311 (e-PCR)
- UniSTS:147808

D8S329 (e-PCR)
- UniSTS:51309

G19345 (e-PCR)
- UniSTS:83323

SHGC-12309 (e-PCR)
- UniSTS:21118

RH91316 (e-PCR)
- UniSTS:91775

GDB:178523 (e-PCR)
- UniSTS:66432

SHGC-132081 (e-PCR)
- UniSTS:170634

G59696 (e-PCR)
- UniSTS:136850

D8S311 (e-PCR)
- UniSTS:50106

RH46517 (e-PCR)
- UniSTS:48571

D8S2070 (e-PCR)
- UniSTS:78046

WI-11722 (e-PCR)
- UniSTS:80368

RH45454 (e-PCR)
- UniSTS:57074

RH79857 (e-PCR)
- UniSTS:87028

G43516 (e-PCR)
- UniSTS:94973

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytoskeletal anchor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytoskeletal anchor activity	IDA Inferred from Direct Assay more info	PubMed
enables cytoskeletal anchor activity	TAS Traceable Author Statement more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables enzyme binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
enables spectrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables spectrin binding	IDA Inferred from Direct Assay more info	PubMed
enables spectrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables spectrin binding	NAS Non-traceable Author Statement more info	PubMed
enables structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed
enables structural molecule activity	NAS Non-traceable Author Statement more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cytoskeleton organization	NAS Non-traceable Author Statement more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IDA Inferred from Direct Assay more info	PubMed
involved_in exocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in maintenance of epithelial cell apical/basal polarity	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of organelle organization	IEA Inferred from Electronic Annotation more info
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in M band	IEA Inferred from Electronic Annotation more info
located_in Z disc	IEA Inferred from Electronic Annotation more info
part_of ankyrin-1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in axolemma	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info
located_in sarcoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in spectrin-associated cytoskeleton	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ankyrin-1

Names: ANK-1; ankyrin 1, erythrocytic; ankyrin-R; erythrocyte ankyrin

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_012820.2 RefSeqGene

Range

104141..248538

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000037.4 → NP_000028.3 ankyrin-1 isoform 3

See identical proteins and their annotated locations for NP_000028.3

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate segment in the 3' coding region, which includes a stop codon, compared to variant 1. The resulting isoform (3) has a distinct and one aa shorter C-terminus, compared to isoform 1.

Source sequence(s)

AB209418, AC113133, M28880, N63745, X16609

Consensus CDS

CCDS6121.1

UniProtKB/Swiss-Prot

P16157

Related

ENSP00000289734.8, ENST00000289734.13

Conserved Domains (10) summary

smart00218
Location:911 → 1015

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

smart00248
Location:601 → 630

ANK; ankyrin repeats

COG0666
Location:341 → 554

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00204
Location:365 → 490

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd08805
Location:1401 → 1484

Death_ank1; Death domain of Ankyrin-1

pfam00023
Location:337 → 367

Ank; Ankyrin repeat

pfam12796
Location:639 → 730

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:14 → 65

Ank_4; Ankyrin repeats (many copies)

pfam13857
Location:720 → 774

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:403 → 434

ANK; ANK repeat [structural motif]
NM_001142445.2 → NP_001135917.1 ankyrin-1 isoform 10

Status: REVIEWED

Description

Transcript Variant: This variant (10) lacks multiple 5' exons, but has an alternate 5' exon which includes an AUG start codon, compared to variant 1. The resulting isoform (10) has a much shorter and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AC113133, BC014467, N63745

Consensus CDS

CCDS55227.1

UniProtKB/Swiss-Prot

P16157

Related

ENSP00000430368.1, ENST00000522543.6
NM_001142446.2 → NP_001135918.1 ankyrin-1 isoform 9

Status: REVIEWED

Description

Transcript Variant: This variant (9) has an alternate upstream 5' exon, which includes an AUG start codon, and has an additional exon in the middle region, but lacks a segment in the 3' coding region, compared to variant 1. The reading frame is not affected and the resulting isoform (9) is the longest, which has a distinct N-terminus and an internal additional segment as well as lacks a segment in the C-terminal region, compared to isoform 1.

Source sequence(s)

AB209418, AC027702, AC113133, N63745, X16609

Consensus CDS

CCDS47849.1

UniProtKB/Swiss-Prot

P16157

Related

ENSP00000265709.8, ENST00000265709.14

Conserved Domains (10) summary

smart00218
Location:952 → 1056

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

smart00248
Location:634 → 663

ANK; ankyrin repeats

COG0666
Location:374 → 587

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00204
Location:398 → 523

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd08805
Location:1442 → 1525

Death_ank1; Death domain of Ankyrin-1

pfam00023
Location:370 → 400

Ank; Ankyrin repeat

pfam12796
Location:672 → 763

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:47 → 98

Ank_4; Ankyrin repeats (many copies)

pfam13857
Location:753 → 807

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:436 → 467

ANK; ANK repeat [structural motif]
NM_020475.3 → NP_065208.2 ankyrin-1 isoform 4

See identical proteins and their annotated locations for NP_065208.2

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an in-frame segment in the 3' coding region, compared to variant 1. The resulting isoform (4) is therefore shorter than isoform 1.

Source sequence(s)

AA404587, AB209418, AC113133, M28880, N63745, X16609

UniProtKB/Swiss-Prot

P16157

Conserved Domains (10) summary

smart00218
Location:911 → 1015

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

smart00248
Location:601 → 630

ANK; ankyrin repeats

COG0666
Location:341 → 554

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00204
Location:365 → 490

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd08805
Location:1401 → 1484

Death_ank1; Death domain of Ankyrin-1

pfam00023
Location:337 → 367

Ank; Ankyrin repeat

pfam12796
Location:639 → 730

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:14 → 65

Ank_4; Ankyrin repeats (many copies)

pfam13857
Location:720 → 774

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:403 → 434

ANK; ANK repeat [structural motif]
NM_020476.3 → NP_065209.2 ankyrin-1 isoform 1

See identical proteins and their annotated locations for NP_065209.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1, also referred to as isoform 2.1.

Source sequence(s)

AB209418, AC113133, M28880, N63745, X16609

Consensus CDS

CCDS6119.1

UniProtKB/Swiss-Prot

A0PJN8, A6NJ23, E5RFL7, O43400, P16157, Q13768, Q53ER1, Q59FP2, Q8N604, Q99407

Related

ENSP00000339620.4, ENST00000347528.8

Conserved Domains (10) summary

smart00218
Location:911 → 1015

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

smart00248
Location:601 → 630

ANK; ankyrin repeats

COG0666
Location:341 → 554

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00204
Location:365 → 490

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd08805
Location:1401 → 1484

Death_ank1; Death domain of Ankyrin-1

pfam00023
Location:337 → 367

Ank; Ankyrin repeat

pfam12796
Location:639 → 730

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:14 → 65

Ank_4; Ankyrin repeats (many copies)

pfam13857
Location:720 → 774

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:403 → 434

ANK; ANK repeat [structural motif]
NM_020477.3 → NP_065210.2 ankyrin-1 isoform 2

See identical proteins and their annotated locations for NP_065210.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame segment near to the 3' coding region, compared to variant 1. The resulting isoform (2, also referred to as isoform 2.2) is therefore shorter than isoform 1.

Source sequence(s)

AB209418, AC113133, AK126647, M28880, N63745, X16609

UniProtKB/Swiss-Prot

P16157

UniProtKB/TrEMBL

B3KX39

Conserved Domains (10) summary

smart00218
Location:911 → 1015

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

smart00248
Location:601 → 630

ANK; ankyrin repeats

COG0666
Location:341 → 554

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00204
Location:365 → 490

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd08805
Location:1401 → 1484

Death_ank1; Death domain of Ankyrin-1

pfam00023
Location:337 → 367

Ank; Ankyrin repeat

pfam12796
Location:639 → 730

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:14 → 65

Ank_4; Ankyrin repeats (many copies)

pfam13857
Location:720 → 774

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:403 → 434

ANK; ANK repeat [structural motif]
NM_020478.5 → NP_065211.2 ankyrin-1 isoform 5

See identical proteins and their annotated locations for NP_065211.2

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks multiple 5' exons, but has an alternate 5' exon, which includes an AUG start codon, and it also has an alternate segment in the 3' coding region, which includes a stop codon, compared to variant 1. The resulting isoform (5, also referred to as Ank 1.5 and sAnk1) has a much shorter and distinct N-terminus and also has a distinct C-terminus, compared to isoform 1. This small isoform binds to the C-terminus of obscurin, a giant protein surrounding the contractile apparatus in striated muscle, and the binding may be essential for the proper alignment of the network sarcoplasmic reticulum.

Source sequence(s)

AC113133, AK223578, BC014467, N63745

Consensus CDS

CCDS6122.1

UniProtKB/Swiss-Prot

P16157

Related

ENSP00000319123.8, ENST00000314214.12
NM_020480.5 → NP_065213.2 ankyrin-1 isoform 7

See identical proteins and their annotated locations for NP_065213.2

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks multiple 5' exons and an in-frame coding exon in the 3' region, but has an alternate 5' exon which includes an AUG start codon, compared to variant 1. The resulting isoform (7) has a much shorter and distinct N-terminus, and lacks a segment in the C-terminal region, compared to isoform 1.

Source sequence(s)

AC113133, BC014467, BC117121, N63745

Consensus CDS

CCDS6120.1

UniProtKB/TrEMBL

C9JN86

Related

ENSP00000297744.5, ENST00000348036.8

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

41653225..41896741 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

41926848..42170259 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_020479.2: Suppressed sequence

Description

NM_020479.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_020481.2: Suppressed sequence

Description

NM_020481.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.