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

Gene ID: 2173, updated on 5-Mar-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
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Genomic context

Location:
6q22.31
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (122749201..122784074)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (123937487..123972367)
105.20220307 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
  • 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)

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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.

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_2023_10

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)