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    FABP7 fatty acid binding protein 7 [ Homo sapiens (human) ]

    Gene ID: 2173, updated on 17-Sep-2024

    Summary

    Official Symbol
    FABP7provided by HGNC
    Official Full Name
    fatty acid binding protein 7provided by HGNC
    Primary source
    HGNC:HGNC:3562
    See related
    Ensembl:ENSG00000164434 MIM:602965; AllianceGenome:HGNC:3562
    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
    Also known as
    MRG; BLBP; FABPB; B-FABP
    Summary
    The gene encodes a small, highly conserved cytoplasmic protein that bind long-chain fatty acids and other hydrophobic ligands. The encoded protein is important in the establishment of the radial glial fiber in the developing brain. Alternative splicing and promoter usage results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in brain (RPKM 8.9) and skin (RPKM 0.4) See more
    Orthologs
    NEW
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    Genomic context

    See FABP7 in Genome Data Viewer
    Location:
    6q22.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (122749201..122784074)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (123937487..123972367)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (123070346..123105219)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cAMP-dependent protein kinase inhibitor beta Neighboring gene uncharacterized LOC124901391 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:122884400-122884937 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:122884938-122885474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:122932197-122932842 Neighboring gene MPRA-validated peak6076 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:123017072-123018271 Neighboring gene MPRA-validated peak6077 silencer Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:123076853-123077432 Neighboring gene RNA, 7SL, cytoplasmic 564, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:123110213-123110714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:123110715-123111214 Neighboring gene Sharpr-MPRA regulatory region 4155 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89596 Neighboring gene Sharpr-MPRA regulatory region 10347 Neighboring gene sphingomyelin phosphodiesterase acid like 3A Neighboring gene MPRA-validated peak6080 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:123141927-123142470 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:123142471-123143014 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:123165703-123166295 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:123166296-123166889 Neighboring gene ATP synthase membrane subunit g pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • DKFZp547J2313

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables fatty acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables lipid binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fatty acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    fatty acid-binding protein, brain
    Names
    brain lipid-binding protein
    brain-type fatty acid-binding protein
    hypothetical protein DKFZp547J2313
    mammary-derived growth inhibitor-related

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_050619.1 RefSeqGene

      Range
      35516..39874
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001319039.2NP_001305968.1  fatty acid-binding protein, brain isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      AL512688, AL645811, BI860090
      Consensus CDS
      CCDS83121.1
      UniProtKB/Swiss-Prot
      O15540
      Related
      ENSP00000348931.4, ENST00000356535.4
      Conserved Domains (1) summary
      pfam00061
      Location:8117
      Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family
    2. NM_001319041.2NP_001305970.1  fatty acid-binding protein, brain isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) retains two alternate segments compared to variant 1, resulting in a distinct 3' coding region and 3' UTR. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB208815, AL645811, BI860090, BU736791, BX461253
      UniProtKB/TrEMBL
      Q59HE4
      Conserved Domains (1) summary
      cl10502
      Location:282
      lipocalin_FABP; lipocalin/cytosolic fatty acid-binding protein family
    3. NM_001319042.2NP_001305971.1  fatty acid-binding protein, brain isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1. The 5' end of this transcript contains long terminal repeat (LTR) sequence and initiates from an LTR promoter. (PMID: 25114248)
      Source sequence(s)
      AW156936, KM111186
      UniProtKB/TrEMBL
      A0A077H155
      Conserved Domains (1) summary
      pfam00061
      Location:21128
      Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family
    4. NM_001446.5NP_001437.1  fatty acid-binding protein, brain isoform 1

      See identical proteins and their annotated locations for NP_001437.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AW156936, BC012299
      Consensus CDS
      CCDS5127.1
      UniProtKB/Swiss-Prot
      B2R4L1, O14951, O15540, Q6IAU7, Q9H047
      Related
      ENSP00000357429.3, ENST00000368444.8
      Conserved Domains (1) summary
      pfam00061
      Location:8132
      Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      122749201..122784074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      123937487..123972367
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)