ANKRD17 ankyrin repeat domain 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANKRD17provided by HGNC
Official Full Name: ankyrin repeat domain 17provided by HGNC
Primary source: HGNC:HGNC:23575
See related: Ensembl:ENSG00000132466 MIM:615929; AllianceGenome:HGNC:23575
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: CAGS; GTAR; MASK2; NY-BR-16
Summary: The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repeats, and the other with 10 ankyrin repeats. It also contains a nuclear export signal, nuclear localization signal, and a cyclin-binding RXL motif. Localization of this protein to the nucleus has been shown experimentally, and interactions between this protein and cyclin-dependent kinase 2 have been observed. It has been suggested that this protein plays a role in both DNA replication and in both anti-viral and anti-bacterial innate immune pathways. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Expression: Ubiquitous expression in brain (RPKM 8.6), thyroid (RPKM 8.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q13.3

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (73073376..73258798, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (76416991..76602444, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (73939093..74124515, complement)

Chromosome 4 - NC_000004.12 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?

CircANKRD17 promotes glycolysis by inhibiting miR-143 in breast cancer cells.
Title: CircANKRD17 promotes glycolysis by inhibiting miR-143 in breast cancer cells.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Title: Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
A novel function for Ankrd17 in Nod1 and Nod2 mediated anti-bacterial innate immune pathways.
Title: A role for the Ankyrin repeat containing protein Ankrd17 in Nod1- and Nod2-mediated inflammatory responses.
The results indicated that ankrd17 is a positive regulator of the RIG-I signaling pathway. Ankrd17 enhanced the interaction of RIG-I and MDA5 with VISA; the ankyrin repeat domain of ankrd17 is required for its interaction with RIG-I.
Title: Ankrd17 positively regulates RIG-I-like receptor (RLR)-mediated immune signaling.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.
there are overlapping reading frames in the mouse and human genes for 4E-BP3 and MASK
Title: Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK.

Submit: New GeneRIF Correction

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
Chopra-Amiel-Gordon syndrome MedGen: C5561975 OMIM: 619504 GeneReviews: ANKRD17-Related Neurodevelopmental Syndrome	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2023-04-11) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-04-11) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of ankyrin repeat domain 17 (ANKRD17) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr is identified to have a physical interaction with ankyrin repeat domain 17 (ANKRD17) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	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

G34499 (e-PCR)
- UniSTS:50180

G34305 (e-PCR)
- UniSTS:70938

SHGC4-1565 (e-PCR)
- UniSTS:36391

D4S2838 (e-PCR)
- UniSTS:81738

RH127459 (e-PCR)
- UniSTS:210769

RH35831 (e-PCR)
- UniSTS:25427

G34416 (e-PCR)
- UniSTS:12379

SGC38257 (e-PCR)
- UniSTS:33908

WI-16604 (e-PCR)
- UniSTS:62589

SHGC-24711 (e-PCR)
- UniSTS:73860

SGC33720 (e-PCR)
- UniSTS:25246

SHGC-67820 (e-PCR)
- UniSTS:30625

WI-11060 (e-PCR)
- UniSTS:16299

D4S844 (e-PCR)
- UniSTS:20161

D4S872 (e-PCR)
- UniSTS:42445

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood vessel maturation	IEA Inferred from Electronic Annotation more info
involved_in defense response to bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of smooth muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of MDA-5 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of RIG-I signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in male germ cell nucleus	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ankyrin repeat domain-containing protein 17

Names: gene trap ankyrin repeat protein; serologically defined breast cancer antigen NY-BR-16

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.

mRNA and Protein(s)

NM_001286771.3 → NP_001273700.1 ankyrin repeat domain-containing protein 17 isoform c

See identical proteins and their annotated locations for NP_001273700.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant a. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AC053527, AC095053, AC105757

Consensus CDS

CCDS68721.1

UniProtKB/TrEMBL

H0YM23

Related

ENSP00000427151.2, ENST00000509867.6

Conserved Domains (9) summary

PHA03095
Location:984 → 1290

PHA03095; ankyrin-like protein; Provisional

PHA03247
Location:1912 → 2344

PHA03247; large tegument protein UL36; Provisional

sd00045
Location:322 → 351

ANK; ANK repeat [structural motif]

pfam13637
Location:1207 → 1260

Ank_4; Ankyrin repeats (many copies)

pfam03154
Location:2011 → 2221

Atrophin-1; Atrophin-1 family

pfam03938
Location:681 → 780

OmpH; Outer membrane protein (OmpH-like)

pfam12796
Location:455 → 546

Ank_2; Ankyrin repeats (3 copies)

cd22502
Location:1613 → 1683

KH-I_ANKRD17; type I K homology (KH) RNA-binding domain found in ankyrin repeat domain-containing protein 17 (ANKRD17) and similar proteins

cl39094
Location:962 → 1000

Ank_2; Ankyrin repeats (3 copies)
NM_015574.2 → NP_056389.1 ankyrin repeat domain-containing protein 17 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the central coding region codon compared to variant a. The encoded isoform (d) is one amino acid shorter than isoform a.

Source sequence(s)

AC053527, AC095053, AC105757

UniProtKB/TrEMBL

H0YM23

Related

ENSP00000453434.1, ENST00000558247.5

Conserved Domains (10) summary

TIGR02926
Location:805 → 881

AhaH; ATP synthase archaeal, H subunit

smart00248
Location:1081 → 1109

ANK; ankyrin repeats

COG0195
Location:1719 → 1766

NusA; Transcription antitermination factor NusA, contains S1 and KH domains [Transcription]

COG0666
Location:1045 → 1271

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00105
Location:1726 → 1788

KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...

cd00204
Location:396 → 520

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 ...

pfam03938
Location:794 → 893

OmpH; Outer membrane protein (OmpH-like)

pfam12796
Location:305 → 394

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:403 → 454

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:435 → 464

ANK; ANK repeat [structural motif]
NM_032217.5 → NP_115593.3 ankyrin repeat domain-containing protein 17 isoform a

See identical proteins and their annotated locations for NP_115593.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AC053527, AC095053, AC105757

Consensus CDS

CCDS34004.1

UniProtKB/Swiss-Prot

E7EUV3, G5E964, O75179, Q6PJ85, Q6PK85, Q6PKA2, Q86XI3, Q8NDR5, Q96I86, Q9H288, Q9H6J9

UniProtKB/TrEMBL

H0YM23

Related

ENSP00000351416.4, ENST00000358602.9

Conserved Domains (10) summary

TIGR02926
Location:805 → 881

AhaH; ATP synthase archaeal, H subunit

smart00248
Location:1082 → 1110

ANK; ankyrin repeats

COG0195
Location:1720 → 1767

NusA; Transcription antitermination factor NusA, contains S1 and KH domains [Transcription]

COG0666
Location:1046 → 1272

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00105
Location:1727 → 1789

KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...

cd00204
Location:396 → 520

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 ...

pfam03938
Location:794 → 893

OmpH; Outer membrane protein (OmpH-like)

pfam12796
Location:305 → 394

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:403 → 454

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:435 → 464

ANK; ANK repeat [structural motif]
NM_198889.3 → NP_942592.1 ankyrin repeat domain-containing protein 17 isoform b

See identical proteins and their annotated locations for NP_942592.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter than isoform a.

Source sequence(s)

AC053527, AC095053, AC105757

Consensus CDS

CCDS34003.1

UniProtKB/TrEMBL

H0YM23

Related

ENSP00000332265.6, ENST00000330838.10

Conserved Domains (7) summary

COG0195
Location:1469 → 1516

NusA; Transcription antitermination factor NusA, contains S1 and KH domains [Transcription]

COG0666
Location:795 → 1021

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00105
Location:1476 → 1538

KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...

cd00204
Location:396 → 520

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 ...

pfam12796
Location:305 → 394

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:403 → 454

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:435 → 464

ANK; ANK repeat [structural motif]

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_000004.12 Reference GRCh38.p14 Primary Assembly

Range

73073376..73258798 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005265671.5 → XP_005265728.1 ankyrin repeat domain-containing protein 17 isoform X6

UniProtKB/TrEMBL

H0YM23

Conserved Domains (7) summary

COG0195
Location:1468 → 1515

NusA; Transcription antitermination factor NusA, contains S1 and KH domains [Transcription]

COG0666
Location:794 → 1020

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00105
Location:1475 → 1537

KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...

cd00204
Location:396 → 520

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 ...

pfam12796
Location:305 → 394

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:403 → 454

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:435 → 464

ANK; ANK repeat [structural motif]
XM_047450038.1 → XP_047305994.1 ankyrin repeat domain-containing protein 17 isoform X1
XM_047450039.1 → XP_047305995.1 ankyrin repeat domain-containing protein 17 isoform X3
XM_017008013.2 → XP_016863502.1 ankyrin repeat domain-containing protein 17 isoform X8

UniProtKB/TrEMBL

H0YM23
XM_017008012.2 → XP_016863501.1 ankyrin repeat domain-containing protein 17 isoform X7

UniProtKB/TrEMBL

H0YM23
XM_017008011.2 → XP_016863500.1 ankyrin repeat domain-containing protein 17 isoform X2

UniProtKB/TrEMBL

H0YM23
XM_047450041.1 → XP_047305997.1 ankyrin repeat domain-containing protein 17 isoform X5
XM_047450040.1 → XP_047305996.1 ankyrin repeat domain-containing protein 17 isoform X4
XM_047450046.1 → XP_047306002.1 ankyrin repeat domain-containing protein 17 isoform X17
XM_047450045.1 → XP_047306001.1 ankyrin repeat domain-containing protein 17 isoform X16
XM_047450042.1 → XP_047305998.1 ankyrin repeat domain-containing protein 17 isoform X10
XM_005265672.5 → XP_005265729.1 ankyrin repeat domain-containing protein 17 isoform X9

UniProtKB/TrEMBL

B4DTP3

Conserved Domains (7) summary

smart00248
Location:1082 → 1110

ANK; ankyrin repeats

COG0666
Location:1046 → 1272

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00204
Location:396 → 520

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 ...

pfam12796
Location:305 → 394

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:403 → 454

Ank_4; Ankyrin repeats (many copies)

pfam14942
Location:805 → 882

Muted; Organelle biogenesis, Muted-like protein

sd00045
Location:435 → 464

ANK; ANK repeat [structural motif]
XM_047450043.1 → XP_047305999.1 ankyrin repeat domain-containing protein 17 isoform X13
XM_047450047.1 → XP_047306003.1 ankyrin repeat domain-containing protein 17 isoform X19
XM_017008016.3 → XP_016863505.1 ankyrin repeat domain-containing protein 17 isoform X18
XM_017008014.3 → XP_016863503.1 ankyrin repeat domain-containing protein 17 isoform X12

UniProtKB/TrEMBL

B4DTP3
XM_005265673.5 → XP_005265730.1 ankyrin repeat domain-containing protein 17 isoform X11

UniProtKB/TrEMBL

B4DTP3

Conserved Domains (7) summary

smart00248
Location:1082 → 1110

ANK; ankyrin repeats

COG0666
Location:1046 → 1272

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00204
Location:396 → 520

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 ...

pfam12796
Location:305 → 394

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:403 → 454

Ank_4; Ankyrin repeats (many copies)

pfam14942
Location:805 → 882

Muted; Organelle biogenesis, Muted-like protein

sd00045
Location:435 → 464

ANK; ANK repeat [structural motif]
XM_047450048.1 → XP_047306004.1 ankyrin repeat domain-containing protein 17 isoform X21
XM_017008017.2 → XP_016863506.1 ankyrin repeat domain-containing protein 17 isoform X20
XM_047450044.1 → XP_047306000.1 ankyrin repeat domain-containing protein 17 isoform X15
XM_017008015.2 → XP_016863504.1 ankyrin repeat domain-containing protein 17 isoform X14

UniProtKB/TrEMBL

B4DTP3

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

76416991..76602444 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054349636.1 → XP_054205611.1 ankyrin repeat domain-containing protein 17 isoform X6
XM_054349631.1 → XP_054205606.1 ankyrin repeat domain-containing protein 17 isoform X1
XM_054349633.1 → XP_054205608.1 ankyrin repeat domain-containing protein 17 isoform X3
XM_054349638.1 → XP_054205613.1 ankyrin repeat domain-containing protein 17 isoform X8
XM_054349637.1 → XP_054205612.1 ankyrin repeat domain-containing protein 17 isoform X7
XM_054349632.1 → XP_054205607.1 ankyrin repeat domain-containing protein 17 isoform X2
XM_054349635.1 → XP_054205610.1 ankyrin repeat domain-containing protein 17 isoform X5
XM_054349634.1 → XP_054205609.1 ankyrin repeat domain-containing protein 17 isoform X4
XM_054349647.1 → XP_054205622.1 ankyrin repeat domain-containing protein 17 isoform X17
XM_054349646.1 → XP_054205621.1 ankyrin repeat domain-containing protein 17 isoform X16
XM_054349640.1 → XP_054205615.1 ankyrin repeat domain-containing protein 17 isoform X10
XM_054349639.1 → XP_054205614.1 ankyrin repeat domain-containing protein 17 isoform X9
XM_054349643.1 → XP_054205618.1 ankyrin repeat domain-containing protein 17 isoform X13
XM_054349649.1 → XP_054205624.1 ankyrin repeat domain-containing protein 17 isoform X19
XM_054349648.1 → XP_054205623.1 ankyrin repeat domain-containing protein 17 isoform X18
XM_054349642.1 → XP_054205617.1 ankyrin repeat domain-containing protein 17 isoform X12
XM_054349641.1 → XP_054205616.1 ankyrin repeat domain-containing protein 17 isoform X11
XM_054349651.1 → XP_054205626.1 ankyrin repeat domain-containing protein 17 isoform X21
XM_054349650.1 → XP_054205625.1 ankyrin repeat domain-containing protein 17 isoform X20
XM_054349645.1 → XP_054205620.1 ankyrin repeat domain-containing protein 17 isoform X15
XM_054349644.1 → XP_054205619.1 ankyrin repeat domain-containing protein 17 isoform X14