Efcab7 EF-hand calcium binding domain 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Efcab7provided by MGI
Official Full Name: EF-hand calcium binding domain 7provided by MGI
Primary source: MGI:MGI:2385199
See related: Ensembl:ENSMUSG00000073791 AllianceGenome:MGI:2385199
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA1799
Summary: Predicted to enable calcium ion binding activity. Involved in several processes, including positive regulation of protein localization; positive regulation of transcription by RNA polymerase II; and protein localization to motile cilium. Located in ciliary membrane and cytoplasmic side of plasma membrane. Part of plasma membrane protein complex. Is expressed in skin. Orthologous to human EFCAB7 (EF-hand calcium binding domain 7). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E11.5 (RPKM 2.9), testis adult (RPKM 2.1) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C6; 4 45.71 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (99717440..99769985)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (99829445..99912788)

Chromosome 4 - NC_000070.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of protein import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to ciliary membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein localization to ciliary membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to motile cilium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in ciliary membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of plasma membrane protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of plasma membrane protein complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: EF-hand calcium-binding domain-containing protein 7

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_145549.2 → NP_663524.1 EF-hand calcium-binding domain-containing protein 7

See identical proteins and their annotated locations for NP_663524.1

Status: VALIDATED

Source sequence(s)

BX324127, CR536609, CU326395, MF597759

UniProtKB/Swiss-Prot

Q3UQS0, Q5DTU8, Q8VDY4

Related

ENSMUSP00000118989.4, ENSMUST00000136874.4

Conserved Domains (2) summary

COG5126
Location:55 → 168

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cl08302
Location:407 → 467

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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

99717440..99769985

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164002.1 → XP_036019895.1 EF-hand calcium-binding domain-containing protein 7 isoform X1

Conserved Domains (2) summary

COG5126
Location:92 → 205

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cl08302
Location:444 → 504

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 ...
XM_036164007.1 → XP_036019900.1 EF-hand calcium-binding domain-containing protein 7 isoform X3

Conserved Domains (2) summary

COG5126
Location:92 → 205

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cl08302
Location:360 → 420

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 ...
XM_036164006.1 → XP_036019899.1 EF-hand calcium-binding domain-containing protein 7 isoform X2

UniProtKB/Swiss-Prot

Q3UQS0, Q5DTU8, Q8VDY4

Related

ENSMUSP00000159398.2, ENSMUST00000239516.1

Conserved Domains (2) summary

COG5126
Location:55 → 168

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cl08302
Location:407 → 467

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 ...
XM_036164003.1 → XP_036019896.1 EF-hand calcium-binding domain-containing protein 7 isoform X2

UniProtKB/Swiss-Prot

Q3UQS0, Q5DTU8, Q8VDY4

Conserved Domains (2) summary

COG5126
Location:55 → 168

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cl08302
Location:407 → 467

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 ...
XM_036164004.1 → XP_036019897.1 EF-hand calcium-binding domain-containing protein 7 isoform X2

UniProtKB/Swiss-Prot

Q3UQS0, Q5DTU8, Q8VDY4

Conserved Domains (2) summary

COG5126
Location:55 → 168

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cl08302
Location:407 → 467

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 ...
XM_036164008.1 → XP_036019901.1 EF-hand calcium-binding domain-containing protein 7 isoform X4

UniProtKB/TrEMBL

A2CEK1, Q2M1K0

Conserved Domains (1) summary

cl08302
Location:270 → 330

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 ...
XM_036164005.1 → XP_036019898.1 EF-hand calcium-binding domain-containing protein 7 isoform X2

UniProtKB/Swiss-Prot

Q3UQS0, Q5DTU8, Q8VDY4

Conserved Domains (2) summary

COG5126
Location:55 → 168

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cl08302
Location:407 → 467

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 ...
XM_036164009.1 → XP_036019902.1 EF-hand calcium-binding domain-containing protein 7 isoform X4

UniProtKB/TrEMBL

A2CEK1, Q2M1K0

Conserved Domains (1) summary

cl08302
Location:270 → 330

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 ...
XM_036164010.1 → XP_036019903.1 EF-hand calcium-binding domain-containing protein 7 isoform X4

UniProtKB/TrEMBL

A2CEK1, Q2M1K0

Conserved Domains (1) summary

cl08302
Location:270 → 330

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 ...