ANXA6 annexin A6 [Homo sapiens] - Gene

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Summary

Official Symbol: ANXA6provided by HGNC
Official Full Name: annexin A6provided by HGNC
Primary source: HGNC:544
See related: Ensembl:ENSG00000197043; HPRD:00231; MIM:114070; Vega:OTTHUMG00000164179
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: ANX6; CBP68
Summary: Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]

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Genomic context

Location :: 5q33.1

Sequence :: Chromosome: 5; NC_000005.9 (150480267..150537443, complement)

See ANXA6 in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

the regulation of cell surface receptors by annexin A6 may be facilitated by its unique structure that allows recruitment of interaction partners and simultaneously bridging specialized membrane domains with cortical actin surrounding activated receptors
Title: Annexin A6 is an organizer of membrane microdomains to regulate receptor localization and signalling.
AnxA6 is a novel receptor that mediates the endocytosis of bovine beta-glucuronidase.
Title: Annexin VI is a mannose-6-phosphate-independent endocytic receptor for bovine β-glucuronidase.
In addition to regulating cholesterol and caveolin distribution, AnxA6 acts as a scaffold/targeting protein for several signaling proteins.
Title: Annexin A6-Linking Ca(2+) signaling with cholesterol transport.
reduced AnxA6 expression contributes to breast cancer progression by promoting the loss of functional cell-cell and/or cell-ECM contacts and anchorage-independent cell proliferation
Title: Annexin A6 contributes to the invasiveness of breast carcinoma cells by influencing the organization and localization of functional focal adhesions.
In the presence of calcium, AnxA6 re-located to the fractions enriched in detergent-resistant microdomains only in the Niemann-Pick type C disease cells, suggestive of AnxA6 participation in organization of these microdomains.
Title: Annexin A6 is recruited into lipid rafts of Niemann-Pick type C disease fibroblasts in a Ca2+-dependent manner.
High ANXA6 expression in the cytoplasm is associated with uterine cervix carcinogenesis.
Title: Differential expression of ANXA6, HSP27, PRDX2, NCF2, and TPM4 during uterine cervix carcinogenesis: diagnostic and prognostic value.
Data suggests that the hydroxyl group of cholesterol and Trp 343 are involved in AnxA6-membrane interactions.
Title: Interaction of annexin A6 with cholesterol rich membranes is pH-dependent and mediated by the sterol OH.
AnxA6 may participate in formation of cholesterol-rich platforms on LE and therefore may contribute to the pathology of the NPC disease.
Title: Cholesterol as a factor regulating intracellular localization of annexin A6 in Niemann-Pick type C human skin fibroblasts.
results implicate annexin A6 in the actin-dependent regulation of Ca(2+) entry, with consequences for the rates of cell proliferation
Title: Plasma membrane-associated annexin A6 reduces Ca2+ entry by stabilizing the cortical actin cytoskeleton.
Annexin A6 is highly abundant in monocytes of obese and type 2 diabetic individuals.
Title: Annexin A6 is highly abundant in monocytes of obese and type 2 diabetic individuals and is downregulated by adiponectin in vitro.

Submit: New GeneRIF Correction See all (25)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001146.1	NP_001868.2	CR2	BIND	PubMed	p68 interacts with CR2.
NP_001146.1	NP_002881.1	RASA1	BIND	PubMed	Annexin VI interacts with GAP.
P08133	P01023	A2M	HPRD	PubMed
P08133	Q6P1J9	CDC73	HPRD	PubMed
P08133	P20023	CR2	HPRD	PubMed
P08133	P20936	RASA1	HPRD	PubMed
P08133	P23297	S100A1	HPRD	PubMed
P08133	P04271	S100B	HPRD	PubMed
P08133	P55327	TPD52	HPRD	PubMed
BioGRID:106806	BioGRID:107358	CD4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106806	BioGRID:122724	CDC73	BioGRID	PubMed	Two-hybrid
BioGRID:106806	BioGRID:107771	CR2	BioGRID	PubMed	Reconstituted Complex
BioGRID:106806	BioGRID:109268	H2AFX	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106806	BioGRID:111856	RASA1	BioGRID	PubMed	Far Western; Reconstituted Complex
BioGRID:106806	BioGRID:247705	Rasa1	BioGRID	PubMed	Reconstituted Complex
BioGRID:106806	BioGRID:112179	S100A1	BioGRID	PubMed	Reconstituted Complex
BioGRID:106806	BioGRID:112193	S100B	BioGRID	PubMed	Reconstituted Complex
BioGRID:106806	BioGRID:112937	TJP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106806	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
	NP_057864.1	tax	BIND	PubMed	Tax interacts with Annexin VI.

Function	Evidence Code	Pubs
calcium ion binding	IEA Inferred from Electronic Annotation more info
calcium-dependent phospholipid binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
calcium ion transport	IEA Inferred from Electronic Annotation more info
regulation of muscle contraction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
apical plasma membrane	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
melanosome	IEA Inferred from Electronic Annotation more info
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
protein complex	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: annexin A6

Names: annexin A6; p68; p70; CPB-II; annexin-6; calelectrin; lipocortin VI; calphobindin II; calphobindin-II; chromobindin-20; annexin VI (p68); 67 kDa calelectrin; calcium-binding protein p68

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NCBI Reference Sequences (RefSeq)

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_001155.4 → NP_001146.2 annexin A6 isoform 1

Status: REVIEWED

Description

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

Source sequence(s)

AC008641, AI566871, BC017046, DC411634

Consensus CDS

CCDS47315.1

UniProtKB/Swiss-Prot

P08133

Related

ENSP00000346550, OTTHUMP00000226119, ENST00000354546, OTTHUMT00000377668

Conserved Domains (1) summary

cl02574
Location:439 – 504
Blast Score: 249

Annexin; Annexin
NM_001193544.1 → NP_001180473.1 annexin A6 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC008641, AI566871, AK303078, BM904172, Y00097

Consensus CDS

CCDS54941.1

UniProtKB/TrEMBL

B7Z8A7

UniProtKB/TrEMBL

E9PGK1

UniProtKB/Swiss-Prot

P08133

Related

ENSP00000430517, OTTHUMP00000226120, ENST00000523714, OTTHUMT00000377669

Conserved Domains (1) summary

cl02574
Location:407 – 472
Blast Score: 248

Annexin; Annexin

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p5 Primary Assembly

Range

150480267..150537443, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

145626078..145683049, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_004033.2: Suppressed sequence

Description

NM_004033.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC008641.7 (94681..151780)	None
genomic	CH471062.2	EAW61684.1
		EAW61685.1
		EAW61686.1
		EAW61687.1
genomic	X77673.1	None
mRNA	AI566871.1	None
mRNA	AK126836.1	BAC86715.1
mRNA	AK130077.1	BAC85290.1
mRNA	AK290672.1	BAF83361.1
mRNA	AK298582.1	BAH12818.1
mRNA	AK303078.1	BAH13893.1
mRNA	BC017046.1	AAH17046.1
mRNA	BM904172.1	None
mRNA	BQ924484.1	None
mRNA	D00510.1	BAA00400.1
mRNA	DC411634.1	None
mRNA	J03578.1	AAA35656.1
mRNA	Y00097.1	CAA68286.1
other-genetic	DQ891610.2	ABM82536.1
other-genetic	EU176589.1	ABW03390.1