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    NECAB1 N-terminal EF-hand calcium binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 64168, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NECAB1provided by HGNC
    Official Full Name
    N-terminal EF-hand calcium binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:20983
    See related
    Ensembl:ENSG00000123119 AllianceGenome:HGNC:20983
    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
    EFCBP1; STIP-1
    Summary
    Enables identical protein binding activity. Predicted to be involved in regulation of amyloid precursor protein biosynthetic process. Predicted to act upstream of or within blastocyst hatching. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 31.1), testis (RPKM 8.9) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NECAB1 in Genome Data Viewer
    Location:
    8q21.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (90791775..90959393)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (91916601..92084316)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (91804003..91971621)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27613 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19352 Neighboring gene translation initiation factor IF-2 Neighboring gene transmembrane protein 64 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:91678635-91679135 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:91695833-91696820 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:91696821-91697808 Neighboring gene uncharacterized LOC105375633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:91713257-91713757 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:91712756-91713256 Neighboring gene uncharacterized LOC105375635 Neighboring gene uncharacterized LOC105375634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19354 Neighboring gene chromosome 8 open reading frame 88 Neighboring gene phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19355 Neighboring gene OTUD6B antisense RNA 1 (head to head)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. EFCBP1/NECAB1, a brain-specifically expressed gene with highest abundance in temporal lobe, encodes a protein containing EF-hand and antibiotic biosynthesis monooxygenase domains. Wu H, et al. DNA Seq, 2007 Feb. PMID 17364817
    2. Comparative anatomical distribution of neuronal calcium-binding protein (NECAB) 1 and -2 in rodent and human spinal cord. Zhang MD, et al. Brain Struct Funct, 2016 Sep. PMID 26843217
    3. NECABs: a family of neuronal Ca(2+)-binding proteins with an unusual domain structure and a restricted expression pattern. Sugita S, et al. Neuroscience, 2002. PMID 12044471
    4. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article
    5. Alterations in the brain interactome of the intrinsically disordered N-terminal domain of the cellular prion protein (PrPC) in Alzheimer's disease. Ulbrich S, et al. PLoS One, 2018. PMID 29791485, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blastocyst hatching IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of amyloid precursor protein biosynthetic process 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 cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    N-terminal EF-hand calcium-binding protein 1
    Names
    EF-hand calcium-binding protein 1
    neuronal calcium binding protein
    neuronal calcium-binding protein 1
    synaptotagmin interacting protein 1

    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_022351.5 → NP_071746.1  N-terminal EF-hand calcium-binding protein 1

      See identical proteins and their annotated locations for NP_071746.1

      Status: VALIDATED

      Source sequence(s)
      AF414126
      Consensus CDS
      CCDS47889.1
      UniProtKB/Swiss-Prot
      Q6NUS7, Q8N987, Q96AZ7, Q9HBW8
      Related
      ENSP00000387380.2, ENST00000417640.7
      Conserved Domains (3) summary
      pfam03992
      Location:254 → 325
      ABM; Antibiotic biosynthesis monooxygenase
      pfam13499
      Location:33 → 89
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:31 → 87
      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

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      90791775..90959393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517213.3 → XP_011515515.1  N-terminal EF-hand calcium-binding protein 1 isoform X1

      Conserved Domains (3) summary
      pfam03992
      Location:254 → 315
      ABM; Antibiotic biosynthesis monooxygenase
      pfam13499
      Location:33 → 89
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:31 → 87
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      91916601..92084316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360981.1 → XP_054216956.1  N-terminal EF-hand calcium-binding protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N987.1 GenPept UniProtKB/Swiss-Prot:Q8N987

    Gene LinkOut

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