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EFCAB9 EF-hand calcium binding domain 9 [ Homo sapiens (human) ]

Gene ID: 285588, updated on 5-Mar-2024

Summary

Official Symbol
EFCAB9provided by HGNC
Official Full Name
EF-hand calcium binding domain 9provided by HGNC
Primary source
HGNC:HGNC:34530
See related
Ensembl:ENSG00000214360 MIM:618520; AllianceGenome:HGNC:34530
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
Summary
This gene encodes a protein with a C-terminal EF-hand calcium-binding domain similar to that found in penta-EF-hand (PEF) protein family members. The EF-hand is a helix-loop-helix structure with a canonical twelve-residue sequence that coordinates a calcium molecule with pentagonal bipyramidal symmetry. [provided by RefSeq, Jul 2017]
Expression
Biased expression in testis (RPKM 2.8), spleen (RPKM 2.1) and 12 other tissues See more
Orthologs
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Genomic context

See EFCAB9 in Genome Data Viewer
Location:
5q35.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (172194172..172203454)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (172734472..172743747)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (171621176..171630458)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene F-box and WD repeat domain containing 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171349530-171350030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171350031-171350531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171370553-171371052 Neighboring gene Sharpr-MPRA regulatory region 1765 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:171407408-171407976 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171410187-171410959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171433526-171434153 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171435409-171436036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171481332-171482159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171482181-171482682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171482683-171483182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23620 Neighboring gene serine/threonine kinase 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171528850-171529636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171542101-171542601 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171571210-171571710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23624 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:171578576-171578751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171591501-171592480 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:171602275-171602501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23625 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171606399-171607102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23629 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171615213-171615988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23632 Neighboring gene ubiquitin domain containing 2 Neighboring gene small nucleolar RNA SNORA57 Neighboring gene KLF3 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Related articles in PubMed

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables calcium ion sensor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables calcium ion sensor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in flagellated sperm motility IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sperm capacitation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in sperm capacitation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
part_of CatSper complex ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in sperm principal piece IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in sperm principal piece ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
EF-hand calcium-binding domain-containing protein 9

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)

  1. NM_001171183.2NP_001164654.1  EF-hand calcium-binding domain-containing protein 9

    See identical proteins and their annotated locations for NP_001164654.1

    Status: REVIEWED

    Source sequence(s)
    AC024561, AI024830, CN445899
    Consensus CDS
    CCDS54946.1
    UniProtKB/Swiss-Prot
    A8MZ26
    Related
    ENSP00000381247.4, ENST00000398186.5
    Conserved Domains (2) summary
    pfam13499
    Location:108162
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:110161
    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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    172194172..172203454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    172734472..172743747
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)