AK6 adenylate kinase 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AK6provided by HGNC
Official Full Name: adenylate kinase 6provided by HGNC
Primary source: HGNC:HGNC:49151
See related: Ensembl:ENSG00000085231 MIM:619357; AllianceGenome:HGNC:49151
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: CIP; CINAP; AD-004; hCINAP; CGI-137
Summary: This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Expression: Ubiquitous expression in testis (RPKM 18.6), adrenal (RPKM 17.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (69350984..69369824, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (70176769..70195609, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (68646811..68665651, complement)

Chromosome 5 - NC_000005.10 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 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?

Human adenylate kinase 6 regulates WNK1 (with no lysine kinase-1) phosphorylation states and affects ion homeostasis in NT2 cells.
Title: Human adenylate kinase 6 regulates WNK1 (with no lysine kinase-1) phosphorylation states and affects ion homeostasis in NT2 cells.
Unique structural features of the adenylate kinase hCINAP/AK6 and its multifaceted functions in carcinogenesis and tumor progression.
Title: Unique structural features of the adenylate kinase hCINAP/AK6 and its multifaceted functions in carcinogenesis and tumor progression.
hCINAP is potentially a direct target gene of HIF-1 and is required for hypoxia-induced EMT and apoptosis in cervical cancer cells.
Title: hCINAP is potentially a direct target gene of HIF-1 and is required for hypoxia-induced EMT and apoptosis in cervical cancer cells.
The mRNA and protein expressions of AK1, AK6 and AK7 are significantly down-regulated in the sperm of asthenospermia patients, which may be closely related with reduced sperm motility.
Title: [Expressions of the adenylate kinase family in asthenospermia].
These results provide mechanistic insight into the function of hCINAP during the DNA-damage response and its role in acute myelocytic leukemia resistance to therapy.
Title: hCINAP regulates the DNA-damage response and mediates the resistance of acute myelocytic leukemia cells to therapy.
hCINAP determines self-renewal of colorectal cancer stem cells by facilitating LDHA phosphorylation.
Title: Adenylate kinase hCINAP determines self-renewal of colorectal cancer stem cells by facilitating LDHA phosphorylation.
purification and X ray crystal structure
Title: Protein preparation, crystallization and preliminary X-ray analysis of human adrenal gland protein AD-004.
hCINAP is a novel coilin-interacting protein encoded by a transcript from the transcription factor TAFIID32 locus
Title: Characterization of hCINAP, a novel coilin-interacting protein encoded by a transcript from the transcription factor TAFIID32 locus.

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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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables adenylate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables adenylate kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables nucleoside monophosphate kinase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in nucleobase-containing small molecule interconversion	TAS Traceable Author Statement more info
involved_in nucleoside monophosphate phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in rRNA processing	IEA Inferred from Electronic Annotation more info
involved_in ribosomal small subunit biogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	HDA more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
NOT located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: adenylate kinase isoenzyme 6

Names: ATP-AMP transphosphorylase 6; adrenal gland protein AD-004; coilin interacting nuclear ATPase protein; coilin interacting protein; sperm protein HTL-T-97p

NP_001015891.1

EC 2.7.4.3

NP_057367.1

EC 2.7.4.3

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_001015891.2 → NP_001015891.1 adenylate kinase isoenzyme 6 isoform c

See identical proteins and their annotated locations for NP_001015891.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform b.

Source sequence(s)

AC145132, BC007349, BX117839

Consensus CDS

CCDS43324.1

UniProtKB/Swiss-Prot

Q9Y3D8

Related

ENSP00000370197.3, ENST00000380818.7

Conserved Domains (1) summary

COG1936
Location:7 → 167

Fap7; Broad-specificity NMP kinase [Nucleotide transport and metabolism]
NM_016283.5 → NP_057367.1 adenylate kinase isoenzyme 6 isoform b

See identical proteins and their annotated locations for NP_057367.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) encodes the longer isoform (b).

Source sequence(s)

AC145132, AF151895, BC007426

Consensus CDS

CCDS4001.1

UniProtKB/Swiss-Prot

A8MSZ6, Q5F2S9, Q9Y3D8

UniProtKB/TrEMBL

D6RDH4

Related

ENSP00000370201.4, ENST00000380822.9

Conserved Domains (1) summary

COG1936
Location:4 → 170

Fap7; Broad-specificity NMP kinase [Nucleotide transport and metabolism]