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GRIFIN galectin-related inter-fiber protein [ Homo sapiens (human) ]

Gene ID: 402635, updated on 11-Apr-2024

Summary

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Official Symbol
GRIFINprovided by HGNC
Official Full Name
galectin-related inter-fiber proteinprovided by HGNC
Primary source
HGNC:HGNC:4577
See related
Ensembl:ENSG00000275572 MIM:619187; AllianceGenome:HGNC:4577
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
Summary
Predicted to enable carbohydrate binding activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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Location:
7p22.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2474728..2476398, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (2588113..2589784, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2514363..2516032, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr7.493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17871 Neighboring gene NGRN pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25532 Neighboring gene carbohydrate sulfotransferase 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2471770-2472662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2472663-2473554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2482261-2482761 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2488098-2488281 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2490871-2491526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2491527-2492180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2510727-2511330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2513557-2514102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17873 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2518193-2518788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2526820-2527704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2534319-2535080 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2538982-2539948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2539949-2540914 Neighboring gene uncharacterized LOC107986759 Neighboring gene nonconserved acetylation island sequence 106 enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2562611-2563123 Neighboring gene LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Neighboring gene microRNA 4648

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. A comparative gene expression profile of the whole eye from human, mouse, and guinea pig. Zhou X, et al. Mol Vis, 2007 Nov 28. PMID 18087242
  2. Transcriptomics Analysis of Lens from Patients with Posterior Subcapsular Congenital Cataract. Lin X, et al. Genes (Basel), 2021 Nov 27. PMID 34946854, Free PMC Article
  3. Interactions between small heat shock protein alpha-crystallin and galectin-related interfiber protein (GRIFIN) in the ocular lens. Barton KA, et al. Biochemistry, 2009 May 12. PMID 19296714, Free PMC Article
  4. GRIFIN, a novel lens-specific protein related to the galectin family. Ogden AT, et al. J Biol Chem, 1998 Oct 30. PMID 9786891
  5. Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. Steinmann K, et al. Am J Hum Genet, 2007 Dec. PMID 17999360, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Transcriptomics Analysis of Lens from Patients with Posterior Subcapsular Congenital Cataract.
    Title: Transcriptomics Analysis of Lens from Patients with Posterior Subcapsular Congenital Cataract.
Submit: New GeneRIF Correction

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)

Genotypes

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
grifin
Names
putative grifin

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_001394787.1 → NP_001381716.1  grifin

    Status: VALIDATED

    Source sequence(s)
    AC004840, KF459637
    Consensus CDS
    CCDS94046.1
    UniProtKB/Swiss-Prot
    A0A087WXP5, A4D1Z8
    Related
    ENSP00000481185.1, ENST00000614228.2
    Conserved Domains (1) summary
    smart00908
    Location:11 → 131
    Gal-bind_lectin; Galactoside-binding lectin

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    2474728..2476398 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    2588113..2589784 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_032051.2: Suppressed sequence

    Description
    NG_032051.2: This RefSeq was permanently suppressed because it is now thought that this gene is a transcribed pseudogene.

  2. NM_001291784.1: Suppressed sequence

    Description
    NM_001291784.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A4D1Z8.4 GenPept UniProtKB/Swiss-Prot:A4D1Z8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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Research Materials
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