CALML6 calmodulin like 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CALML6provided by HGNC
Official Full Name: calmodulin like 6provided by HGNC
Primary source: HGNC:HGNC:24193
See related: Ensembl:ENSG00000169885 MIM:610171; AllianceGenome:HGNC:24193
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: CAGLP
Summary: Predicted to enable calcium ion binding activity and enzyme regulator activity. Predicted to be involved in microtubule cytoskeleton organization. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 1p36.33

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (1915260..1917296)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (1348173..1351716)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (1846699..1848735)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

EP4-induced mitochondrial localization and cell migration mediated by CALML6 in human oral squamous cell carcinoma.
Title: EP4-induced mitochondrial localization and cell migration mediated by CALML6 in human oral squamous cell carcinoma.
The EF-hand protein calmodulin-like 6 (CALML6) directly bound to the phosphorylated serine-rich (SR) region of IRF3 and impaired its dimerization and nuclear translocation.
Title: The EF-Hand Protein CALML6 Suppresses Antiviral Innate Immunity by Impairing IRF3 Dimerization.
a novel human gene, CAGLP (calglandulin-like protein) was predicted, and subsequently isolated from human skeleton muscle
Title: Cloning and characterization of human CAGLP gene encoding a novel EF-hand protein.

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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 calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in microtubule cytoskeleton 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
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: calmodulin-like protein 6

Names: EF-hand protein; calglandulin-like 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_001330313.2 → NP_001317242.1 calmodulin-like protein 6 isoform 2

Status: VALIDATED

Description

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

Source sequence(s)

AL109917

Consensus CDS

CCDS81255.1

UniProtKB/TrEMBL

B1AKR1

Related

ENSP00000367867.3, ENST00000378604.3
NM_138705.4 → NP_619650.2 calmodulin-like protein 6 isoform 1

See identical proteins and their annotated locations for NP_619650.2

Status: VALIDATED

Description

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

Source sequence(s)

AF490905, AL109917

Consensus CDS

CCDS30566.1

UniProtKB/Swiss-Prot

A2A2M3, Q6Q2C4, Q8TD86

Related

ENSP00000304643.3, ENST00000307786.8

Conserved Domains (2) summary

PTZ00184
Location:26 → 173

PTZ00184; calmodulin; Provisional

cd00051
Location:111 → 173

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

1915260..1917296

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005244729.4 → XP_005244786.2 calmodulin-like protein 6 isoform X1

Conserved Domains (2) summary

PTZ00184
Location:48 → 195

PTZ00184; calmodulin; Provisional

cd00051
Location:133 → 195

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...