ANKRD54 ankyrin repeat domain 54 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANKRD54provided by HGNC
Official Full Name: ankyrin repeat domain 54provided by HGNC
Primary source: HGNC:HGNC:25185
See related: Ensembl:ENSG00000100124 MIM:613383; AllianceGenome:HGNC:25185
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LIAR
Summary: Predicted to enable protein kinase regulator activity. Predicted to be involved in positive regulation of erythrocyte differentiation and regulation of intracellular signal transduction. Predicted to act upstream of or within nucleocytoplasmic transport and regulation of protein kinase activity. Predicted to be located in midbody. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 9.1), ovary (RPKM 5.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (37830855..37849341, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (38292487..38310946, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (38226862..38245348, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

the results show that the interaction between BTK and ANKRD54 is highly selective, since it was also identified in a screen using human SH3-domainome. A novel finding is that BTK not only binds to ANKRD54, but stands out as the preferred interactor, being highly dominant over all other human SH3-domains.
Title: ANKRD54 preferentially selects Bruton's Tyrosine Kinase (BTK) from a Human Src-Homology 3 (SH3) domain library.
Liar is the first protein identified that specifically influences the nucleocytoplasmic shuttling of Btk and Txk and belongs to a rare group of known proteins carrying out this activity in a Crm1-dependent manner.
Title: Regulation of nucleocytoplasmic shuttling of Bruton's tyrosine kinase (Btk) through a novel SH3-dependent interaction with ankyrin repeat domain 54 (ANKRD54).

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

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

A006R14 (e-PCR)
- UniSTS:63554

G28411 (e-PCR)
- UniSTS:62275

HSC1OE012 (e-PCR)
- UniSTS:67061

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in nucleocytoplasmic transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of erythrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of intracellular signal transduction	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in midbody	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: ankyrin repeat domain-containing protein 54

Names: lyn-interacting ankyrin repeat protein

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_001349853.2 → NP_001336782.1 ankyrin repeat domain-containing protein 54 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (5) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. Then encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.

Source sequence(s)

BC014641, Z97630

Conserved Domains (3) summary

PLN03192
Location:89 → 235

PLN03192; Voltage-dependent potassium channel; Provisional

sd00045
Location:77 → 108

ANK; ANK repeat [structural motif]

pfam12796
Location:53 → 141

Ank_2; Ankyrin repeats (3 copies)
NM_001363839.1 → NP_001350768.1 ankyrin repeat domain-containing protein 54 isoform 3

Status: VALIDATED

Source sequence(s)

BX368923, DB449700, R59897, Z97630

Consensus CDS

CCDS87023.1

UniProtKB/TrEMBL

B5MCX7

Related

ENSP00000384392.1, ENST00000406423.5

Conserved Domains (3) summary

PLN03192
Location:34 → 180

PLN03192; Voltage-dependent potassium channel; Provisional

PHA03095
Location:9 → 96

PHA03095; ankyrin-like protein; Provisional

sd00045
Location:22 → 53

ANK; ANK repeat [structural motif]
NM_138797.4 → NP_620152.1 ankyrin repeat domain-containing protein 54 isoform 1

See identical proteins and their annotated locations for NP_620152.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer isoform (1).

Source sequence(s)

BC014641, BC066909, HY007929

Consensus CDS

CCDS13959.1

UniProtKB/Swiss-Prot

Q6NXT1, Q6ZSB1, Q9UGV1

UniProtKB/TrEMBL

D3YTC9

Related

ENSP00000215941.4, ENST00000215941.9

Conserved Domains (3) summary

cd00204
Location:118 → 232

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:118 → 206

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:142 → 173

ANK; ANK repeat [structural motif]

RNA

NR_036556.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate 5' splice junction at a coding exon compared to variant 1, that causes a frameshift. An upstream overlapping ORF with a strong Kozak consensus sequence makes it unlikely that this variant is translated.

Source sequence(s)

BC014641, BC066909, HY007929
NR_146279.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate 5' splice junction at a coding exon compared to variant 1, that causes a frameshift. An upstream overlapping ORF with a strong Kozak consensus sequence makes it unlikely that this variant is translated.

Source sequence(s)

BC014641, BC066909, CX870766, HY007929
NR_146280.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses several alternate 5' splice junction at coding exons compared to variant 1, that cause a frameshift. An upstream overlapping ORF with a strong Kozak consensus sequence makes it unlikely that this variant is translated.

Source sequence(s)

BC014641, BC066909, HY007929

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_000022.11 Reference GRCh38.p14 Primary Assembly

Range

37830855..37849341 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441138.1 → XP_047297094.1 ankyrin repeat domain-containing protein 54 isoform X2
XM_011529877.3 → XP_011528179.1 ankyrin repeat domain-containing protein 54 isoform X1

Conserved Domains (2) summary

cd00204
Location:118 → 276

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:118 → 174

Ank_2; Ankyrin repeats (3 copies)
XM_047441141.1 → XP_047297097.1 ankyrin repeat domain-containing protein 54 isoform X6
XM_011529882.3 → XP_011528184.1 ankyrin repeat domain-containing protein 54 isoform X7

UniProtKB/TrEMBL

F8WB76

Related

ENSP00000385180.2, ENST00000407117.6

Conserved Domains (3) summary

cd00204
Location:41 → 112

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 ...

pfam13857
Location:42 → 96

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:55 → 86

ANK; ANK repeat [structural motif]
XM_006724136.2 → XP_006724199.1 ankyrin repeat domain-containing protein 54 isoform X4

Conserved Domains (1) summary

cl02529
Location:102 → 139

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 ...
XM_047441140.1 → XP_047297096.1 ankyrin repeat domain-containing protein 54 isoform X5
XM_047441139.1 → XP_047297095.1 ankyrin repeat domain-containing protein 54 isoform X3

Related

ENSP00000387507.1, ENST00000434930.1

RNA

XR_007067958.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

38292487..38310946 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325100.1 → XP_054181075.1 ankyrin repeat domain-containing protein 54 isoform X2
XM_054325099.1 → XP_054181074.1 ankyrin repeat domain-containing protein 54 isoform X1
XM_054325104.1 → XP_054181079.1 ankyrin repeat domain-containing protein 54 isoform X6
XM_054325105.1 → XP_054181080.1 ankyrin repeat domain-containing protein 54 isoform X7
XM_054325102.1 → XP_054181077.1 ankyrin repeat domain-containing protein 54 isoform X4
XM_054325103.1 → XP_054181078.1 ankyrin repeat domain-containing protein 54 isoform X5
XM_054325101.1 → XP_054181076.1 ankyrin repeat domain-containing protein 54 isoform X3