ANXA8L1 annexin A8 like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANXA8L1provided by HGNC
Official Full Name: annexin A8 like 1provided by HGNC
Primary source: HGNC:HGNC:23334
See related: Ensembl:ENSG00000264230
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: ANXA8; ANXA8L2; VAC-beta; bA145E20.2
Summary: This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Apr 2014]
Annotation information: Note: There are multiple copies of ANXA8-like sequences on human chromosome 10q11. In June, 2007, the locations were re-named to correspond to the order defined by the Human Gene Nomenclature Committee (HGNC). [08 Apr 2014]
Expression: Biased expression in skin (RPKM 202.2), esophagus (RPKM 129.0) and 3 other tissues See more
Orthologs: all
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Genomic context

Location:: 10q11.22

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (46375776..46391778)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (47261818..47277820)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (47157989..47173994, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Claudin 18 and annexin A8 are frequently highly overexpressed in infiltrating ductal adenocarcinomas.
Title: New markers of pancreatic cancer identified through differential gene expression analyses: claudin 18 and annexin A8.

Submit: New GeneRIF Correction

Phenotypes

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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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Clone Names

FLJ32754, FLJ39396, FLJ54151, FLJ94196, FLJ97130, KIAA0187, MGC10405

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calcium-dependent phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylserine binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in endosomal transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in endosome organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
is_active_in vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: annexin A8-like protein 1

Names: annexin A8-like protein 2; annexin A8L2; annexin VIII; annexin-8; vascular anticoagulant-beta

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_001098845.3 → NP_001092315.2 annexin A8-like protein 1 isoform 1

See identical proteins and their annotated locations for NP_001092315.2

Status: VALIDATED

Description

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

Source sequence(s)

AC244230, AK313626

Consensus CDS

CCDS73098.1

UniProtKB/Swiss-Prot

A0A0B4J2D4, B2R939, Q53FY2, Q5VT78, Q5VT79, Q96H89

UniProtKB/TrEMBL

A0A075B752

Related

ENSP00000480221.1, ENST00000619162.5

Conserved Domains (1) summary

pfam00191
Location:26 → 90

Annexin
NM_001278923.2 → NP_001265852.1 annexin A8-like protein 1 isoform 3

See identical proteins and their annotated locations for NP_001265852.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two alternate exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AC244230, AK300191

Consensus CDS

CCDS73099.1

UniProtKB/TrEMBL

A0A075B765, B4DTF2

Related

ENSP00000484310.1, ENST00000611655.1

Conserved Domains (1) summary

pfam00191
Location:26 → 90

Annexin; Annexin
NM_001278924.2 → NP_001265853.1 annexin A8-like protein 1 isoform 2

See identical proteins and their annotated locations for NP_001265853.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks three alternate exons and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC244230

Consensus CDS

CCDS73097.1

UniProtKB/TrEMBL

A0A075B765

Related

ENSP00000483608.1, ENST00000622769.4

Conserved Domains (2) summary

smart00335
Location:76 → 128

ANX; Annexin repeats

pfam00191
Location:206 → 271

Annexin; Annexin

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_000010.11 Reference GRCh38.p14 Primary Assembly

Range

46375776..46391778

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

47261818..47277820

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001039801.1: Suppressed sequence

Description

NM_001039801.1: This RefSeq was permanently suppressed because currently there is marginal support for the transcript but not for the protein.
NM_001630.2: Suppressed sequence

Description

NM_001630.2: This RefSeq was permanently suppressed because it is a redundant RefSeq for this annexin family member.