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EFCAB3 EF-hand calcium binding domain 3 [ Homo sapiens (human) ]

Gene ID: 146779, updated on 11-Jun-2021

Summary

Official Symbol
EFCAB3provided by HGNC
Official Full Name
EF-hand calcium binding domain 3provided by HGNC
Primary source
HGNC:HGNC:26379
See related
Ensembl:ENSG00000172421
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
Expression
Restricted expression toward testis (RPKM 2.1) See more
Orthologs
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Genomic context

See EFCAB3 in Genome Data Viewer
Location:
17q23.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (62370218..62416480)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (60447579..60493841)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L36a pseudogene 47 Neighboring gene uncharacterized LOC105371936 Neighboring gene uncharacterized LOC105371854 Neighboring gene RNA, U7 small nuclear 52 pseudogene Neighboring gene ribosomal protein lateral stalk subunit P2 pseudogene 5 Neighboring gene ribosomal protein S23 pseudogene 7 Neighboring gene methyltransferase 2A, methylcytidine Neighboring gene uncharacterized LOC112268200 Neighboring gene uncharacterized LOC112268201

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25818, MGC126801, MGC126827

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
EF-hand calcium-binding domain-containing protein 3

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_001144933.2NP_001138405.1  EF-hand calcium-binding domain-containing protein 3 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC008026, AI218847, AK098684, EG327376
    Consensus CDS
    CCDS45751.1
    UniProtKB/Swiss-Prot
    Q8N7B9
    Related
    ENSP00000403932.2, ENST00000450662.7
    Conserved Domains (1) summary
    pfam13833
    Location:115167
    EF-hand_8; EF-hand domain pair
  2. NM_173503.4NP_775774.1  EF-hand calcium-binding domain-containing protein 3 isoform b

    See identical proteins and their annotated locations for NP_775774.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks three exons in the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (b) with a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AC008026, AI218847, AK098684
    Consensus CDS
    CCDS11632.1
    UniProtKB/Swiss-Prot
    Q8N7B9
    Related
    ENSP00000302649.3, ENST00000305286.8
    Conserved Domains (1) summary
    pfam13833
    Location:63115
    EF-hand_8; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    62370218..62416480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524380.1XP_011522682.1  EF-hand calcium-binding domain-containing protein 3 isoform X2

    See identical proteins and their annotated locations for XP_011522682.1

    UniProtKB/Swiss-Prot
    Q8N7B9
    Conserved Domains (1) summary
    pfam13833
    Location:63115
    EF-hand_8; EF-hand domain pair
  2. XM_011524381.2XP_011522683.2  EF-hand calcium-binding domain-containing protein 3 isoform X1

    Conserved Domains (1) summary
    pfam13833
    Location:85136
    EF-hand_8; EF-hand domain pair
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