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LRRC75A leucine rich repeat containing 75A [ Homo sapiens (human) ]

Gene ID: 388341, updated on 3-Apr-2024

Summary

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Official Symbol
LRRC75Aprovided by HGNC
Official Full Name
leucine rich repeat containing 75Aprovided by HGNC
Primary source
HGNC:HGNC:32403
See related
Ensembl:ENSG00000181350 AllianceGenome:HGNC:32403
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
FAM211A; C17orf76
Summary
Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in urinary bladder (RPKM 22.4), thyroid (RPKM 17.1) and 21 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
17p11.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (16441577..16492193, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (16343882..16394482, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (16344891..16395507, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16342605-16343506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16347109-16348008 Neighboring gene small nucleolar RNA, C/D box 49A Neighboring gene small nucleolar RNA host gene 29 Neighboring gene small nucleolar RNA, C/D box 65 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16351973-16352474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16352475-16352974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16359695-16360196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16360197-16360696 Neighboring gene Sharpr-MPRA regulatory regions 7543 and 3494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16369025-16369816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16379787-16380698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16380699-16381609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16386369-16387185 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16387442-16388368 Neighboring gene uncharacterized LOC124903936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16389294-16390219 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16390220-16391144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8225 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8227 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:16400945-16401445 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:16419598-16420797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11767 Neighboring gene uncharacterized LOC124903940 Neighboring gene uncharacterized LOC124903941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11768 Neighboring gene uncharacterized LOC105371554

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. Single-Cell RNA-Seq Reveals LRRC75A-Expressing Cell Population Involved in VEGF Secretion of Multipotent Mesenchymal Stromal/Stem Cells Under Ischemia. Miura T, et al. Stem Cells Transl Med, 2023 Jun 15. PMID 37263619, Free PMC Article
  2. Identification and analysis of intermediate size noncoding RNAs in the human fetal brain. Yan D, et al. PLoS One, 2011. PMID 21789175, Free PMC Article
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Single-Cell RNA-Seq Reveals LRRC75A-Expressing Cell Population Involved in VEGF Secretion of Multipotent Mesenchymal Stromal/Stem Cells Under Ischemia.
    Title: Single-Cell RNA-Seq Reveals LRRC75A-Expressing Cell Population Involved in VEGF Secretion of Multipotent Mesenchymal Stromal/Stem Cells Under Ischemia.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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

Clone Names

  • FLJ35696

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
leucine-rich repeat-containing protein 75A
Names
family with sequence similarity 211, member A
leucine-rich repeat-containing protein C17orf76
leucine-rich repeat-containing protein FAM211A

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_001113567.3 → NP_001107039.1  leucine-rich repeat-containing protein 75A isoform 1

    See identical proteins and their annotated locations for NP_001107039.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC093484, AC127540, AI298465, BC144381, DB460063
    Consensus CDS
    CCDS45620.1
    UniProtKB/Swiss-Prot
    Q8NAA5
    UniProtKB/TrEMBL
    B7ZMA3
    Related
    ENSP00000419502.1, ENST00000470794.2
    Conserved Domains (2) summary
    cd00116
    Location:169 → 265
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00031
    Location:193 → 216
    LRR_1; leucine-rich repeat [structural motif]

  2. NM_207387.4 → NP_997270.2  leucine-rich repeat-containing protein 75A isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region which results in a frameshift and premature stop codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC093484, AC127540, AI298465, AK093015, DB460063
    Consensus CDS
    CCDS11178.2
    UniProtKB/Swiss-Prot
    Q8NAA5
    Related
    ENSP00000386504.3, ENST00000409083.7

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    16441577..16492193 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024620.2 → XP_016880109.1  leucine-rich repeat-containing protein 75A isoform X2

    UniProtKB/TrEMBL
    B7ZMA3

  2. XM_047435961.1 → XP_047291917.1  leucine-rich repeat-containing protein 75A isoform X3

  3. XM_017024619.2 → XP_016880108.1  leucine-rich repeat-containing protein 75A isoform X1

  4. XM_047435962.1 → XP_047291918.1  leucine-rich repeat-containing protein 75A isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    16343882..16394482 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316035.1 → XP_054172010.1  leucine-rich repeat-containing protein 75A isoform X5

  2. XM_054316033.1 → XP_054172008.1  leucine-rich repeat-containing protein 75A isoform X2

  3. XM_054316034.1 → XP_054172009.1  leucine-rich repeat-containing protein 75A isoform X3

  4. XM_054316032.1 → XP_054172007.1  leucine-rich repeat-containing protein 75A isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NAA5.2 GenPept UniProtKB/Swiss-Prot:Q8NAA5

Gene LinkOut

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